CFTR (CF transmembrane conductance regulator)

Gene

• Entrez ID: 1080
• Gene name: CF transmembrane conductance regulator
• Gene symbol: CFTR
• Synonyms (NCBI Gene): ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1
• Chromosome: 7
• Chromosome location: 7q31.2
• Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800073	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs1800074	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1800076	G>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, not-provided, benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800077	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs1800079	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800086	C>G,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800097	G>A,C	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs1800098	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800100	C>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800103	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic, benign	Missense variant, coding sequence variant
rs1800104	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs1800110	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800111	G>C	Uncertain-significance, pathogenic, risk-factor, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800112	T>C	Pathogenic, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs1800114	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800118	A>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs1800120	G>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs1800121	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs1800123	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800135	C>A,G,T	Benign-likely-benign, benign, likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs4148725	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs11971167	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, drug-response	Coding sequence variant, missense variant
rs34911792	T>G	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs35396083	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs35516286	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic, benign	Missense variant, coding sequence variant
rs36210737	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs74467662	A>C,G	Pathogenic	Intron variant
rs74503330	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs74597325	C>G,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs74767530	C>T	Pathogenic	Stop gained, coding sequence variant
rs75039782	C>G,T	Drug-response, pathogenic	Intron variant
rs75053309	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs75096551	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs75115087	A>T	Pathogenic	Stop gained, coding sequence variant
rs75389940	A>G	Pathogenic	Missense variant, coding sequence variant
rs75527207	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs75528968	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs75541969	G>C	Drug-response, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs75549581	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs75763344	G>A,C,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs75789129	A>G	Likely-benign, benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant
rs75961395	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs76151804	A>G	Pathogenic	Intron variant
rs76371115	A>C,G,T	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant
rs76554633	C>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs76649725	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs76713772	G>A	Pathogenic	Splice acceptor variant
rs76879328	C>A	Pathogenic	Missense variant, coding sequence variant
rs77010898	G>A,C	Uncertain-significance, drug-response, pathogenic	Missense variant, stop gained, coding sequence variant
rs77035409	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs77188391	G>A,T	Pathogenic	Splice donor variant
rs77284892	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs77409459	C>T	Pathogenic	Missense variant, coding sequence variant
rs77834169	C>A,G,T	Uncertain-significance, drug-response, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs77902683	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs77932196	G>A,C,T	Likely-pathogenic, drug-response, pathogenic	Missense variant, coding sequence variant
rs78194216	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs78440224	G>A	Pathogenic	Intron variant
rs78655421	G>A,C,T	Not-provided, drug-response, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs78756941	G>T	Pathogenic	Splice donor variant
rs78769542	G>A,C	Not-provided, drug-response, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs78802634	G>A	Pathogenic	Stop gained, coding sequence variant
rs78984783	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs79031340	G>T	Pathogenic	Stop gained, coding sequence variant
rs79633941	C>T	Pathogenic	Stop gained, coding sequence variant
rs79635528	A>C,G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs79660178	T>A	Pathogenic	Stop gained, coding sequence variant
rs79688066	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs79850223	C>T	Pathogenic	Stop gained, coding sequence variant
rs80034486	C>G	Pathogenic	Missense variant, coding sequence variant
rs80055610	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs80224560	G>A	Pathogenic	Intron variant
rs80282562	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs113857788	G>C,T	Uncertain-significance, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113993958	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance, drug-response, not-provided	Missense variant, coding sequence variant
rs113993959	G>A,T	Drug-response, pathogenic	Missense variant, coding sequence variant, stop gained
rs115545701	C>T	Uncertain-significance, drug-response, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908746	AA>-,A,AAA,AAAA	Pathogenic	Coding sequence variant, frameshift variant
rs121908748	G>A,C,T	Pathogenic	Splice donor variant
rs121908749	C>T	Pathogenic	Coding sequence variant, stop gained
rs121908750	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908751	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121908752	T>G	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908753	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908755	G>A,T	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908757	A>C	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908758	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121908759	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121908760	C>T	Pathogenic	Coding sequence variant, stop gained
rs121908761	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs121908763	C>G	Pathogenic	Coding sequence variant, stop gained
rs121908764	G>A	Pathogenic	Coding sequence variant, stop gained
rs121908765	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121908766	C>A,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs121908767	ATAGTG>-	Pathogenic-likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs121908768	TCT>-	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs121908769	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908770	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908771	T>-,TT	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs121908772	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908773	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908774	C>-	Pathogenic	Coding sequence variant, stop gained
rs121908777	TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA>-,TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA	Pathogenic-likely-pathogenic	Inframe deletion, coding sequence variant, inframe insertion
rs121908779	CTCAAAACT>A	Pathogenic	Coding sequence variant, frameshift variant
rs121908780	GAAATTCAATCCT>AGAAA	Pathogenic	Coding sequence variant, frameshift variant
rs121908781	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs121908782	CCAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs121908784	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908788	->G	Pathogenic	Coding sequence variant, stop gained
rs121908789	->T	Pathogenic	Coding sequence variant, frameshift variant
rs121908791	G>A	Pathogenic	Splice donor variant
rs121908792	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs121908793	G>A,T	Pathogenic	Splice acceptor variant
rs121908794	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs121908796	G>A,T	Pathogenic	Intron variant
rs121908797	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs121908798	TAT>G,T	Pathogenic	Stop gained, coding sequence variant, frameshift variant
rs121908799	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs121908800	T>A,C,G	Pathogenic, not-provided	Splice donor variant
rs121908801	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908802	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908803	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121908804	GAGAATGATGATGAAGTACAGG>-	Pathogenic	Splice donor variant, coding sequence variant
rs121908808	->T	Pathogenic	Coding sequence variant, frameshift variant
rs121908810	C>T	Pathogenic	Coding sequence variant, stop gained
rs121908811	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908812	T>-	Pathogenic	Coding sequence variant, stop gained
rs121909005	T>A,C,G	Drug-response, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121909006	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs121909008	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909010	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909011	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909012	C>T	Pathogenic	Coding sequence variant, stop gained
rs121909013	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121909015	G>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909016	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909018	G>T	Pathogenic	Coding sequence variant, stop gained
rs121909019	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909020	G>A,C	Drug-response, uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909021	C>T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121909023	A>T	Pathogenic	Coding sequence variant, stop gained
rs121909025	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909026	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs121909028	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909031	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909033	A>T	Pathogenic	Missense variant, coding sequence variant
rs121909034	C>A,T	Benign-likely-benign, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, stop gained
rs121909035	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909036	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121909037	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909040	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121909041	T>A,C	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121909042	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs121909043	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs121909045	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121909046	A>G	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121909047	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs138025486	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs138634146	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138642693	T>C	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs139304906	T>C	Pathogenic	Missense variant, coding sequence variant
rs139379077	C>G	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs139468767	T>C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139729994	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs140455771	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs140502196	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs141033578	C>G,T	Drug-response, likely-pathogenic, uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs141158996	G>A,T	Pathogenic	Splice donor variant
rs141482808	T>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141723617	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142394380	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs142773283	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142920240	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143486492	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs143570767	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs144055758	A>G	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs144476686	T>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144781064	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs145449046	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs145483167	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs145540754	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145877746	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs146521846	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs146795445	T>C	Pathogenic	Splice donor variant
rs146804928	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs148519623	T>G	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs148783445	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149790377	T>A	Pathogenic	Coding sequence variant, stop gained
rs150157202	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs150212784	T>C,G	Drug-response, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150683293	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs151020603	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs151048781	G>A,C	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs151235408	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs185028612	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant
rs186045772	T>A	Drug-response, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs191456345	A>G	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs193922497	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922498	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs193922501	C>T	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922503	G>A,T	Pathogenic	Intron variant
rs193922504	T>C	Pathogenic	Missense variant, coding sequence variant
rs193922505	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922509	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922510	->T	Pathogenic	Coding sequence variant, frameshift variant
rs193922511	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922514	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs193922515	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs193922516	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922519	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922520	G>A	Pathogenic	Intron variant
rs193922521	->TAT	Likely-pathogenic	Inframe insertion, coding sequence variant
rs193922523	->AGGG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922524	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922525	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs193922526	T>C	Likely-pathogenic	Splice donor variant
rs193922528	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922529	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922532	C>G	Pathogenic	Coding sequence variant, stop gained
rs193922533	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922730	A>C,G	Pathogenic	Splice acceptor variant
rs193922732	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs199630678	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199791061	G>A	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs200321110	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs200337193	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs200901072	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200955612	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201124247	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201386642	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201591901	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201716473	A>G	Likely-benign, uncertain-significance, benign-likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs201978662	G>A	Pathogenic	Missense variant, coding sequence variant
rs202179988	C>T	Likely-pathogenic, pathogenic, uncertain-significance, drug-response	Missense variant, coding sequence variant
rs267606722	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606723	G>A,T	Pathogenic, drug-response, not-provided	Missense variant, coding sequence variant
rs367850319	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs368505753	C>T	Pathogenic, drug-response	Missense variant, coding sequence variant
rs369521395	C>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs371315549	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs372227120	G>A,T	Pathogenic	Splice donor variant
rs373885282	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs374013084	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs374705585	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs374946172	C>T	Pathogenic	Coding sequence variant, stop gained
rs375661578	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs375845215	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs377447726	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs377729736	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant
rs386134230	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387906359	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs387906360	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs387906361	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906362	A>G	Pathogenic	Intron variant
rs387906363	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906364	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906365	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906366	->CTATG	Pathogenic	Frameshift variant, coding sequence variant
rs387906367	TGATTGATTTAC>-	Pathogenic	Intron variant
rs387906368	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906369	G>A	Pathogenic	Splice acceptor variant
rs387906370	->C	Pathogenic	Frameshift variant, coding sequence variant
rs387906371	AATAGCTATGTTTAGTTT>-	Pathogenic	Inframe deletion, coding sequence variant
rs387906373	ATTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906374	A>G	Pathogenic	Intron variant
rs387906375	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906376	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906377	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906378	->TCAA	Pathogenic	Frameshift variant, coding sequence variant
rs387906379	->T	Pathogenic	Coding sequence variant, stop gained
rs387906380	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508136	CGAGAGACCATGCAGAGGTCGCC>-	Pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs397508137	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397508138	->G	Pathogenic	Frameshift variant, coding sequence variant
rs397508139	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs397508140	->ATTCACCACCAT	Pathogenic	Coding sequence variant, inframe insertion
rs397508141	TTGTCAGACATATACCAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs397508144	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508146	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508148	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508154	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508158	G>A,C,T	Pathogenic, not-provided	Splice donor variant
rs397508161	A>G	Pathogenic	Intron variant
rs397508168	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508173	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508217	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508229	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397508233	A>G	Pathogenic	Splice acceptor variant
rs397508243	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397508244	->T	Pathogenic	Intron variant
rs397508246	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508247	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508249	G>A	Pathogenic	Splice acceptor variant
rs397508250	A>C,G	Pathogenic	Splice acceptor variant
rs397508251	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508253	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508256	G>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant, stop gained
rs397508257	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508258	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508261	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs397508263	G>A,C	Pathogenic	Splice donor variant
rs397508266	A>G	Pathogenic	Intron variant
rs397508267	A>C	Pathogenic	Missense variant, coding sequence variant
rs397508269	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508270	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508272	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508273	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397508274	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508276	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508277	A>G	Pathogenic	Missense variant, coding sequence variant
rs397508278	T>A,C	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508279	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508288	A>C,G	Pathogenic, drug-response	Missense variant, coding sequence variant
rs397508290	->T	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508294	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508295	TAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508296	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508298	A>C,G,T	Pathogenic, uncertain-significance	Intron variant
rs397508300	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508303	AAAACTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508306	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508308	C>G,T	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508310	A>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508316	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508323	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508324	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508325	AACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508327	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs397508328	A>G	Pathogenic	Missense variant, initiator codon variant
rs397508331	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508333	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397508334	->C	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508336	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508339	->G	Pathogenic	Frameshift variant, coding sequence variant
rs397508341	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs397508342	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397508343	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508344	AA>GT	Pathogenic	Coding sequence variant, stop gained
rs397508346	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508350	T>G	Pathogenic	Coding sequence variant, stop gained
rs397508353	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508354	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508355	GATACTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508356	CTCGCATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508357	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508360	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs397508364	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508365	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508371	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508375	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508378	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508381	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508382	A>T	Pathogenic	Coding sequence variant, stop gained
rs397508386	A>C,G	Likely-pathogenic	Splice acceptor variant
rs397508387	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508388	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508389	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, stop gained
rs397508391	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508393	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508394	C>A	Pathogenic	Coding sequence variant, stop gained
rs397508395	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508399	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508400	AATTTGGTGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508404	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs397508405	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508412	T>A,C,G	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508413	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508414	->A	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant
rs397508416	G>C,T	Pathogenic	Splice acceptor variant
rs397508419	G>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs397508422	C>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508426	A>C,G	Pathogenic	Splice acceptor variant
rs397508431	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs397508435	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs397508436	A>G	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508441	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508442	C>T	Pathogenic, drug-response	Missense variant, coding sequence variant
rs397508444	A>G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs397508445	ACATTCTGTTCTTCAAGCACCTATGTCAACCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508447	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508451	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508453	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508455	T>C,G	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs397508458	G>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs397508461	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508462	A>C,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508463	T>A	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508464	A>C,G	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs397508467	C>T	Pathogenic	Missense variant, coding sequence variant
rs397508468	G>T	Pathogenic	Missense variant, coding sequence variant
rs397508470	G>A	Pathogenic	Splice acceptor variant
rs397508472	AATT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs397508476	T>A,C,G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, initiator codon variant
rs397508477	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508479	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397508480	C>A	Pathogenic	Missense variant, coding sequence variant
rs397508482	G>-	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs397508486	->A	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508488	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508490	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508493	TAGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508496	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508498	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508499	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508500	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508503	G>A,T	Pathogenic, not-provided	Splice donor variant
rs397508505	GG>-	Pathogenic	Splice donor variant, coding sequence variant
rs397508506	G>A	Likely-pathogenic	Splice acceptor variant
rs397508510	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs397508513	A>C	Drug-response, not-provided	Missense variant, coding sequence variant
rs397508514	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508516	GCTTCCTA>-	Pathogenic, not-provided	Coding sequence variant, stop gained
rs397508517	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508518	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508520	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508522	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508524	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508525	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508528	T>A,C	Pathogenic-likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508531	T>C,G	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508532	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508533	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs397508535	A>C	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs397508536	A>T	Pathogenic	Coding sequence variant, stop gained
rs397508537	C>A	Conflicting-interpretations-of-pathogenicity, pathogenic, drug-response	Missense variant, coding sequence variant
rs397508538	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508541	C>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508544	T>A,C	Pathogenic	Splice donor variant
rs397508552	AC>GTA	Pathogenic	Frameshift variant, coding sequence variant
rs397508555	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397508556	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508557	TGA>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs397508559	->AGTA	Pathogenic	Frameshift variant, coding sequence variant
rs397508561	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508567	T>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508569	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508571	G>A,C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs397508572	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508573	C>T	Pathogenic	Missense variant, coding sequence variant
rs397508575	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508578	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397508579	A>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508581	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs397508587	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508588	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397508589	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508595	A>G	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs397508596	T>C,G	Pathogenic	Intron variant
rs397508598	T>G	Pathogenic	Missense variant, coding sequence variant
rs397508600	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs397508601	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs397508602	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs397508604	T>G	Pathogenic	Coding sequence variant, stop gained
rs397508609	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508613	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508615	C>G,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397508616	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508621	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508624	G>A	Pathogenic	Splice acceptor variant
rs397508630	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508633	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397508635	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508636	A>C,T	Likely-pathogenic, pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508637	A>-,AA	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508643	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508645	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397508650	T>A,G	Likely-pathogenic, pathogenic	Splice donor variant
rs397508652	C>G	Pathogenic	Intron variant
rs397508653	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508657	G>A,T	Pathogenic, not-provided	Missense variant, initiator codon variant
rs397508658	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508661	G>-,GGGGG	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508662	CTAAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508666	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508668	TGTT>AA	Pathogenic	Frameshift variant, coding sequence variant
rs397508669	->T	Pathogenic	Coding sequence variant, stop gained
rs397508671	CTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508672	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508673	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508674	T>A,C,G	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs397508675	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508678	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs397508683	C>A,G,T	Likely-pathogenic, not-provided	Synonymous variant, coding sequence variant, stop gained
rs397508684	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508685	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508686	->TAC	Pathogenic	Coding sequence variant, inframe insertion
rs397508689	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508693	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508695	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs397508699	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508700	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397508701	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508702	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508705	A>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397508706	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508707	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508708	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508709	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs397508714	T>-,TT,TTT	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508716	G>A,T	Likely-pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant, stop gained
rs397508718	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs397508721	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508727	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397508729	T>A,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508732	T>C,G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397508734	G>A,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397508736	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508740	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508744	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397508746	G>T	Pathogenic	Splice donor variant
rs397508750	TAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508755	C>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs397508758	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508759	G>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant, stop gained
rs397508761	A>C,G,T	Pathogenic, not-provided	Intron variant
rs397508762	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508763	G>T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508764	A>G	Pathogenic	Missense variant, coding sequence variant
rs397508766	T>A,C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508767	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508771	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508775	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508777	T>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs397508778	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508781	T>A	Pathogenic	Coding sequence variant, stop gained
rs397508782	T>G	Pathogenic	Missense variant, coding sequence variant
rs397508783	T>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508791	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs397508794	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508796	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508799	C>A	Pathogenic	Coding sequence variant, stop gained
rs397508804	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508805	CTTAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508808	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508809	GAAT>-	Pathogenic, not-provided	Intron variant
rs397508811	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508815	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508816	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508820	T>A	Pathogenic	Coding sequence variant, stop gained
rs397508824	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397515498	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs533959068	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant
rs556880586	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs672601314	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs672601315	T>A,C	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs672601316	G>T	Pathogenic	Coding sequence variant, stop gained
rs672601317	G>A	Pathogenic	Coding sequence variant, stop gained
rs727504712	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs746418935	->A	Pathogenic	Coding sequence variant, frameshift variant
rs747754623	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs750558115	G>A	Pathogenic	Splice donor variant
rs750559671	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs754392413	TATGGAAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs755416052	A>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs758147990	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs759202870	A>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs759762840	TTT>-,TT,TTTT	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant
rs761669740	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs762844777	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs763843966	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs768963919	->T	Pathogenic	Coding sequence variant, frameshift variant
rs769693190	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs773739166	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant
rs774643457	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs779177972	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs780546355	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, splice donor variant
rs786204693	A>-,AA	Pathogenic	Coding sequence variant, stop gained, frameshift variant
rs796065332	AAATGATTGAAAA>TG	Pathogenic	Coding sequence variant, frameshift variant
rs797045156	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045159	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045160	G>A	Pathogenic	Splice acceptor variant
rs797045162	->C	Pathogenic	Coding sequence variant, frameshift variant
rs878854021	T>-	Uncertain-significance, pathogenic, likely-benign	Intron variant
rs886042527	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs895394181	A>G	Uncertain-significance, pathogenic	Intron variant
rs984281283	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1039221071	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057516216	T>C	Likely-pathogenic	Splice donor variant
rs1057516232	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516236	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516387	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516415	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516457	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516609	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516619	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516646	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516970	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517032	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517068	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1057517276	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517342	->TACA	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517404	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060503164	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs1199914684	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1204521684	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1290078234	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1299250440	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1317756653	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1330431481	G>A,C,T	Pathogenic	Splice donor variant
rs1351058559	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1381239923	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1408746819	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1457520634	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1470125842	G>A	Pathogenic	Splice donor variant
rs1481564133	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554375870	->T	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1554379846	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554379887	TTAGTTTGATTTAT>-	Pathogenic	Coding sequence variant, stop gained
rs1554379899	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380311	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380465	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380497	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554380515	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554380789	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380828	A>C,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1554381596	A>G	Likely-pathogenic	Splice acceptor variant
rs1554388867	A>G	Pathogenic-likely-pathogenic	Intron variant
rs1554389062	T>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Splice donor variant
rs1554389241	G>A	Likely-pathogenic	Splice acceptor variant
rs1554389296	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554389346	A>-,AA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554389411	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554389486	->CGAA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554389836	G>A	Pathogenic	Splice donor variant
rs1554390859	A>G	Pathogenic	Splice acceptor variant
rs1554390864	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554390866	->A	Pathogenic	Splice donor variant
rs1554390958	A>G	Pathogenic	Splice acceptor variant
rs1554391033	ACCACT>TCAGA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554391454	TCTTAATAGATTCTCCAAAGATATAGCAATTTTGGAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554391489	CATCCAGGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1554391491	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554392027	GTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1554392248	CAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTA	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554392282	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554392798	G>A	Likely-pathogenic	Splice donor variant
rs1554392800	->T	Pathogenic, likely-pathogenic	Splice donor variant
rs1554392801	G>A	Pathogenic	Intron variant
rs1554396384	A>G	Likely-pathogenic	Splice acceptor variant
rs1554396393	->T	Pathogenic	Coding sequence variant, stop gained
rs1554397497	->CCTA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397515	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397527	TGGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554397593	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397750	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397769	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397772	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1562876396	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562876459	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1562882675	CTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1562882755	ATCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562884046	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562889180	AAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGAAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant
rs1562889382	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562890223	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562891084	AGACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562892108	AACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACAG>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1562892293	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1562892359	->TATGA	Pathogenic	Coding sequence variant, frameshift variant
rs1562892387	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562906265	ACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant
rs1562907186	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1562907232	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562907260	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1562907873	G>T	Pathogenic	Coding sequence variant, stop gained
rs1562907896	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1562908889	AGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant
rs1562908997	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562911661	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1562911739	CTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562914028	TTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAG>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1562914072	CTATAGCAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1562914082	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562914107	T>G	Pathogenic	Coding sequence variant, stop gained
rs1562914200	C>A	Pathogenic	Coding sequence variant, stop gained
rs1562914641	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562914838	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1562919371	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562923164	T>A	Pathogenic	Coding sequence variant, stop gained
rs1562923253	T>A	Pathogenic	Coding sequence variant, missense variant
rs1562928854	TGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTA	Pathogenic	Splice acceptor variant, intron variant, splice donor variant, coding sequence variant
rs1562928927	T>-	Pathogenic	Coding sequence variant, stop gained
rs1562928997	G>A	Pathogenic	Splice donor variant
rs1562929196	G>A	Likely-pathogenic	Intron variant
rs1562929573	TCTTCCGGCAAGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562929633	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562929636	TGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTTAGAGAGCAGCATAAATGTTGACATGGGACATTTGCT>-	Likely-pathogenic	Terminator codon variant, 3 prime UTR variant, inframe indel, stop lost
rs1584764596	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584776308	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584776437	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584784850	TGTA>-	Pathogenic	Intron variant, splice acceptor variant
rs1584785072	TCCTACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584785196	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs1584786373	T>G	Pathogenic	Intron variant
rs1584786454	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1584786892	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584787119	T>C	Likely-pathogenic	Splice donor variant
rs1584787657	C>GCTGGGAAGAT	Pathogenic	Coding sequence variant, frameshift variant
rs1584787716	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584787782	T>G	Pathogenic	Stop gained, coding sequence variant
rs1584789180	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584789226	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584789267	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584789514	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584810167	->TA	Pathogenic	Stop gained, coding sequence variant
rs1584812217	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs1584812361	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584812425	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584812646	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584812696	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584812777	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584812778	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584813819	T>G	Pathogenic	Stop gained, coding sequence variant
rs1584817344	->TG	Pathogenic	Coding sequence variant, frameshift variant
rs1584819340	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584821306	A>T	Pathogenic	Intron variant
rs1584822237	->TTTTAAGCTTAAAAGG	Pathogenic	Coding sequence variant, frameshift variant
rs1584822486	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1584824301	T>C	Pathogenic	Splice donor variant
rs1584829874	ACAGCATTGTGCAGTGCTGCTCATAGTAGAAATAAAT>-	Pathogenic	Intron variant
rs1584830149	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs1584830154	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs1584836927	->ATCAG	Pathogenic	Coding sequence variant, frameshift variant
rs1584837090	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584837173	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584848754	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584848901	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584849005	G>A	Pathogenic	Intron variant
rs1584850172	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1584850283	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007361	hsa-miR-433-3p	Luciferase reporter assay	23555973
MIRT007363	hsa-miR-509-3p	Luciferase reporter assay	23555973
MIRT017834	hsa-miR-335-5p	Microarray	18185580
MIRT021816	hsa-miR-132-3p	Microarray	17612493
MIRT054057	hsa-miR-101-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23226399
MIRT054058	hsa-miR-144-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23226399
MIRT438886	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438885	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438884	hsa-miR-494-3p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438886	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438885	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438884	hsa-miR-494-3p	Luciferase reporter assay, qRT-PCR	23436935
MIRT735248	hsa-miR-1246	Luciferase reporter assay, Western blotting, qRT-PCR	33420548
MIRT017834	hsa-miR-335-5p	Western blotting, RNA-seq, qRT-PCR	33530577
MIRT735248	hsa-miR-1246	Luciferase reporter assay, Western blotting, qRT-PCR	33420548
MIRT737518	hsa-miR-106b-3p	Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	33036232
MIRT438886	hsa-miR-145-5p	Luciferase reporter assay	32059764
MIRT438885	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR	32059764
MIRT438886	hsa-miR-145-5p	RNA-seq, qRT-PCR	32260566
MIRT735248	hsa-miR-1246	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, RNA-seq	35216222
MIRT888030	hsa-miR-1273e	CLIP-seq
MIRT888031	hsa-miR-1827	CLIP-seq
MIRT888032	hsa-miR-200b	CLIP-seq
MIRT888033	hsa-miR-200c	CLIP-seq
MIRT888034	hsa-miR-362-5p	CLIP-seq
MIRT888035	hsa-miR-3978	CLIP-seq
MIRT888036	hsa-miR-429	CLIP-seq
MIRT888037	hsa-miR-4303	CLIP-seq
MIRT888038	hsa-miR-4307	CLIP-seq
MIRT888039	hsa-miR-4310	CLIP-seq
MIRT888040	hsa-miR-4536	CLIP-seq
MIRT888041	hsa-miR-4649-3p	CLIP-seq
MIRT888042	hsa-miR-4760-3p	CLIP-seq
MIRT888043	hsa-miR-4762-3p	CLIP-seq
MIRT888044	hsa-miR-4793-5p	CLIP-seq
MIRT888045	hsa-miR-494	CLIP-seq
MIRT888046	hsa-miR-500b	CLIP-seq
MIRT888047	hsa-miR-576-5p	CLIP-seq
MIRT888048	hsa-miR-630	CLIP-seq
MIRT1963233	hsa-miR-3154	CLIP-seq
MIRT1963234	hsa-miR-3182	CLIP-seq
MIRT1963235	hsa-miR-3190	CLIP-seq
MIRT1963236	hsa-miR-3977	CLIP-seq
MIRT888035	hsa-miR-3978	CLIP-seq
MIRT1963237	hsa-miR-4254	CLIP-seq
MIRT1963238	hsa-miR-4282	CLIP-seq
MIRT1963239	hsa-miR-4633-3p	CLIP-seq
MIRT1963240	hsa-miR-4719	CLIP-seq
MIRT1963241	hsa-miR-513b	CLIP-seq
MIRT1963242	hsa-miR-619	CLIP-seq
MIRT1963233	hsa-miR-3154	CLIP-seq
MIRT2199720	hsa-miR-3163	CLIP-seq
MIRT1963234	hsa-miR-3182	CLIP-seq
MIRT1963235	hsa-miR-3190	CLIP-seq
MIRT1963236	hsa-miR-3977	CLIP-seq
MIRT888035	hsa-miR-3978	CLIP-seq
MIRT1963237	hsa-miR-4254	CLIP-seq
MIRT1963238	hsa-miR-4282	CLIP-seq
MIRT1963239	hsa-miR-4633-3p	CLIP-seq
MIRT1963240	hsa-miR-4719	CLIP-seq
MIRT2199721	hsa-miR-4778-3p	CLIP-seq
MIRT1963241	hsa-miR-513b	CLIP-seq
MIRT1963242	hsa-miR-619	CLIP-seq
MIRT1963240	hsa-miR-4719	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF1	Activation	10075672
CDX2	Activation	22671145
CUX1	Unknown	10075672
FOXA1	Repression	24440874
FOXA2	Repression	24440874
FOXI1	Repression	20972246
NFE2L2	Activation	20309604
NFE2L2	Repression	20309604
NFKB1	Activation	11114294
RELA	Activation	11114294
SP1	Unknown	16877677
SP3	Unknown	16877677
SRF	Unknown	16170155
STAT1	Activation	19061877
STAT1	Repression	19061877
TFAP2A	Unknown	10652362
USF2	Unknown	23560079
YY1	Activation	10652351;20309604
YY1	Unknown	16170155;23560079

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005254	Function	Chloride channel activity	IDA	11524016, 11707463, 15010471, 18570918, 19019741, 22178883
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	IMP	19621064, 24885604
GO:0005254	Function	Chloride channel activity	TAS	9931011
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	IBA
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	IEA
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	IMP	8910473
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	NAS	11707463
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	TAS	10581360
GO:0005515	Function	Protein binding	IPI	9671706, 9792704, 11707463, 12369822, 12471024, 14679199, 15247260, 16203867, 16546175, 16901789, 17110338, 17244609, 18555783, 19289574, 19465887, 19878303, 20658517, 21455491, 21884936, 22038833, 22121115, 22178883, 22768251, 23818989, 25661196, 25712891, 26618866, 27092946, 28360
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	2475911
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	18570918
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	19398555
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11707463
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	24885604
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11524016, 15010471, 21884936, 22178883, 24885604, 28067262, 28130590
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	11707463
GO:0005886	Component	Plasma membrane	TAS
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006833	Process	Water transport	IBA
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0009986	Component	Cell surface	IDA	20658517
GO:0010008	Component	Endosome membrane	TAS
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	15010471, 19019741
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	ISS
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015108	Function	Chloride transmembrane transporter activity	TAS
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	IDA	15010471, 19019741
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IDA	8910473
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	12801959, 15247260, 18570918, 20658517, 28130590, 32487539
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IMP	19621064
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	8910473, 11524016
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017081	Function	Chloride channel regulator activity	TAS
GO:0019869	Function	Chloride channel inhibitor activity	IDA	22178883
GO:0019899	Function	Enzyme binding	IPI	19398555
GO:0030165	Function	PDZ domain binding	IDA	11707463
GO:0030301	Process	Cholesterol transport	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031901	Component	Early endosome membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	17462998
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	21884936, 28067262
GO:0035377	Process	Transepithelial water transport	IMP	19621064
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0045921	Process	Positive regulation of exocytosis	IEA
GO:0048240	Process	Sperm capacitation	IEA
GO:0048240	Process	Sperm capacitation	ISS
GO:0050891	Process	Multicellular organismal-level water homeostasis	IMP	19621064
GO:0051087	Function	Protein-folding chaperone binding	IPI	16207813
GO:0051454	Process	Intracellular pH elevation	IEA
GO:0051454	Process	Intracellular pH elevation	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055037	Component	Recycling endosome	IDA	18570918
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060081	Process	Membrane hyperpolarization	ISS
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070175	Process	Positive regulation of enamel mineralization	IEA
GO:0070175	Process	Positive regulation of enamel mineralization	ISS
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0071889	Function	14-3-3 protein binding	EXP	26888287
GO:0071889	Function	14-3-3 protein binding	IMP	26888287
GO:0071889	Function	14-3-3 protein binding	IPI	26888287
GO:0097186	Process	Amelogenesis	IEA
GO:0097186	Process	Amelogenesis	ISS
GO:0098660	Process	Inorganic ion transmembrane transport	IEA
GO:0106138	Function	Sec61 translocon complex binding	IDA	9792704
GO:0140359	Function	ABC-type transporter activity	IBA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	11524016, 11707463, 19019741
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IMP	19621064, 24885604
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902943	Process	Positive regulation of voltage-gated chloride channel activity	IDA	22006324
GO:1904322	Process	Cellular response to forskolin	IDA	15010471, 19621064

Other IDs

• MIM: 602421
• HGNC: 1884
• e!Ensembl: ENSG00000001626

Protein

• UniProt ID: P13569
• Protein name: Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)
• Protein function: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:115240
• PDB: 1XMI, 1XMJ, 2BBO, 2BBS, 2BBT, 2LOB, 2PZE, 2PZF, 2PZG, 3GD7, 3ISW, 4WZ6, 5D2D, 5D3E, 5D3F, 5TF7, 5TF8, 5TFA, 5TFB, 5TFC, 5TFD, 5TFF, 5TFG, 5TFI, 5TFJ, 5TGK, 5UAK, 6GJQ, 6GJS, 6GJU, 6GK4, 6GKD, 6HEP, 6MSM, 6O1V, 6O2P, 6UK1, 6WBS, 6ZE1, 7QI1, 7SV7, 7SVD, 7SVR, 8EIG, 8EIO, 8EIQ, 8EJ1, 8FZQ, 8GLS, 8UBR, 8V7Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	81 → 350	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	441 → 576	ABC transporter	Domain
  PF14396	CFTR_R	639 → 849	Cystic fibrosis TM conductance regulator (CFTR), regulator domain	Domain
  PF00664	ABC_membrane	862 → 1147	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1227 → 1374	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed:15716351, PubMed:22207244). Detected in pancreatic intercalated ducts in the exocri
• Sequence:

  MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE
  LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA
  IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL
  VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
  GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
  YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT
  WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK
  TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
  KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV
  LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
  ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS
  ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
  MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG
  QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI
  PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
  NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
  MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV
  PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK
  ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM
  STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
  DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL
  LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
  EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT
  YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
  ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

• Sequence length: 1480

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Pathogenic	rs121908776	RCV001813963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bronchiectasis with or without elevated sweat chloride 1	Likely pathogenic; Pathogenic	rs397508233, rs2485109599, rs2116226496, rs2115882158, rs376008630, rs2116166806, rs2115903565, rs2115903081, rs2115937855, rs2485020199, rs1798849948, rs767232138, rs2485014145, rs1660096953, rs2485171208, rs672601314, rs73715573, rs193922504, rs2484928957, rs1792456337, rs397508734, rs786204693, rs397508189, rs755416052, rs148122007, rs2484928848, rs2485146476, rs113993960, rs121908745, rs77101217, rs113993958, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121909005, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs387906360, rs387906361, rs80034486, rs74767530, rs121909011, rs121908776, rs121909012, rs121909013, rs75961395, rs79850223, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909019, rs143570767, rs78194216, rs75528968, rs75039782, rs121908748, rs141158996, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs121908752, rs77409459, rs78802634, rs121909031, rs121908753, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs74503330, rs121908775, rs121909043, rs387906379, rs121908784, rs121908769, rs121909047, rs387906369, rs2485185956, rs397508263, rs2485122171, rs1284763505, rs2485020586, rs1792647486, rs2485030497, rs2485026765, rs2485065477, rs2485129063, rs2484968022, rs2485185464, rs573808767, rs2485130591, rs2485110650, rs1324592887, rs2485122205, rs2485134017, rs2485121970, rs2485009815, rs2485065290, rs2485146583, rs1359327577, rs2484975247, rs2485171110, rs775628795, rs75096551, rs2485109325, rs2485159817, rs2485046318, rs2485016873, rs2485104134, rs2485110962, rs397508746, rs2485171217, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs1554391489, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922520, rs193922525, rs193922532, rs1554392023, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs121908761, rs77284892, rs121908757, rs121908779, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs36210737, rs766063304, rs758900656, rs141482808, rs1290078234, rs756219310, rs1554390958, rs762844777, rs750559671, rs533959068, rs1554389062, rs1554389486, rs121908749, rs121908763, rs121908792, rs121908794, rs121908796, rs77834169, rs80282562, rs121908772, rs121908768, rs79031340, rs1330431481, rs193922730, rs397508498, rs779177972, rs1562928997, rs1562908997, rs1562894926, rs1562876459, rs756206533, rs1584785196, rs397508137, rs397508139, rs397508144, rs121908774, rs397508150, rs397508152, rs397508158, rs73215912, rs397508165, rs397508168, rs397508173, rs397508192, rs397508195, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508221, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508256, rs397508261, rs397508266, rs397508269, rs397508272, rs397508273, rs397508276, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs121908780, rs368505753, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508346, rs397508348, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508378, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs1584786454, rs1584789226, rs1584848754, rs397508412, rs397508413, rs121908791, rs121909034, rs149790377, rs397508426, rs397508431, rs397508441, rs397508442, rs397508451, rs397508461, rs397508464, rs397508470, rs397508476, rs397508479, rs397508482, rs397508496, rs397508499, rs397508506, rs397508509, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508531, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508571, rs397508572, rs397508587, rs121908765, rs397508588, rs397508595, rs397508596, rs267606723, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs387906373, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508668, rs397508673, rs397508680, rs397508686, rs76371115, rs397508695, rs397508702, rs372227120, rs397508706, rs397508712, rs397508715, rs397508716, rs374705585, rs397508718, rs397508721, rs397508731, rs397508732, rs397508736, rs397508740, rs397508744, rs121908771, rs397508758, rs397508759, rs397508761, rs78440224, rs121908793, rs121908802, rs397508767, rs121908803, rs397508777, rs397508778, rs397508783, rs397508784, rs397508791, rs397508796, rs397508797, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs397515498, rs1299250440, rs1584837090, rs1584764596, rs1584787716, rs1584812425, rs1584821736, rs1189377616, rs1792671655, rs1799425190	RCV003473863 RCV005036837 RCV003469682 RCV005038252 RCV003474017 RCV004571100 RCV003475202 RCV003475230 RCV003475191 RCV003475323 RCV003475324 RCV004572120 RCV004572121 RCV004572122 RCV005032221 RCV005031654 RCV005359333 RCV004572231 RCV004572268 RCV004572246 RCV005032244 RCV004567369 RCV002492691 RCV003474898 RCV003475487 RCV003475430 RCV003465886 RCV002490332 RCV002496293 RCV002496294 RCV003473000 RCV000763151 RCV002504761 RCV000763569 RCV002496295 RCV002504762 RCV005042002 RCV000763572 RCV002496296 RCV000763573 RCV002490333 RCV000763574 RCV000763575 RCV002476941 RCV003473011 RCV003473012 RCV004566689 RCV004566690 RCV000763161 RCV003473014 RCV003466826 RCV003473015 RCV002504763 RCV000763567 RCV003473018 RCV003473019 RCV003473020 RCV002490334 RCV000763158 RCV005031409 RCV002490335 RCV003473023 RCV003466827 RCV003473024 RCV003473025 RCV003473026 RCV003473027 RCV003466828 RCV002496297 RCV002496298 RCV003473029 RCV003473030 RCV000763159 RCV002496300 RCV003466829 RCV005031413 RCV003473032 RCV003473033 RCV003473034 RCV004566691 RCV003473035 RCV003473036 RCV004566692 RCV000763156 RCV003473038 RCV000763581 RCV003473040 RCV000763568 RCV003473042 RCV003473043 RCV003473044 RCV003466831 RCV004566693 RCV003466832 RCV002496301 RCV003473045 RCV003473047 RCV003473048 RCV002496302 RCV003473050 RCV003466022 RCV005036705 RCV003475911 RCV004572930 RCV004572938 RCV003475677 RCV003475678 RCV003475679 RCV003475680 RCV003475681 RCV003475682 RCV003475686 RCV003475687 RCV003475689 RCV003475692 RCV003475693 RCV003475694 RCV003475695 RCV003475698 RCV003475699 RCV003468373 RCV003468374 RCV003468375 RCV003468376 RCV003468377 RCV003468379 RCV003475668 RCV003475669 RCV003475672 RCV004574071 RCV000763580 RCV004575624 RCV004575625 RCV004575626 RCV004575627 RCV004575629 RCV004575630 RCV004575631 RCV004575632 RCV003475952 RCV003475957 RCV003475944 RCV003475967 RCV003475960 RCV003475949 RCV004567876 RCV003470326 RCV003476096 RCV003476204 RCV005044759 RCV000763570 RCV003473124 RCV002477011 RCV003473126 RCV003473127 RCV003473128 RCV002477012 RCV003473130 RCV003473131 RCV000763578 RCV003473132 RCV003473133 RCV003473134 RCV003473135 RCV003473136 RCV003473137 RCV003466876 RCV003473138 RCV002482911 RCV003473143 RCV003473144 RCV002496446 RCV002477013 RCV003473146 RCV005034082 RCV003473238 RCV002490440 RCV000763152 RCV003473240 RCV000763579 RCV003473242 RCV000763157 RCV000763147 RCV003466883 RCV003473245 RCV003465285 RCV003471913 RCV004568237 RCV003471915 RCV003471912 RCV003471916 RCV003465284 RCV003471914 RCV003471917 RCV002496491 RCV004568305 RCV003471939 RCV003471942 RCV003471943 RCV003471940 RCV004568313 RCV002493108 RCV003472175 RCV003472096 RCV002485561 RCV004568572 RCV003472086 RCV003473290 RCV003473291 RCV000763148 RCV003473293 RCV003473294 RCV000763150 RCV000763153 RCV003473297 RCV005031484 RCV003473299 RCV003472268 RCV003465677 RCV003472279 RCV003472277 RCV004569422 RCV003472317 RCV005047044 RCV005036112 RCV003472322 RCV005036116 RCV003473519 RCV004566862 RCV003473440 RCV002496707 RCV003473442 RCV003475329 RCV003473443 RCV003473444 RCV003473445 RCV003466898 RCV003473446 RCV003473447 RCV003473450 RCV005031487 RCV003473451 RCV003473452 RCV003473454 RCV003473455 RCV003473456 RCV005031488 RCV003473457 RCV004566863 RCV004566864 RCV004566865 RCV003466899 RCV003473459 RCV004566866 RCV003473461 RCV003473462 RCV000763576 RCV005031490 RCV003473463 RCV004566867 RCV003473464 RCV002496710 RCV003466900 RCV003473466 RCV003466901 RCV003473467 RCV004566869 RCV005042130 RCV003473468 RCV003466902 RCV003473469 RCV002490611 RCV005031495 RCV003473471 RCV002496711 RCV003473473 RCV003473474 RCV003466903 RCV003473475 RCV003473476 RCV005042133 RCV005042135 RCV003473477 RCV003473478 RCV003473480 RCV003473481 RCV003473482 RCV005042136 RCV004566871 RCV004566872 RCV002496712 RCV003475696 RCV002477155 RCV004575628 RCV005031498 RCV004566873 RCV005031499 RCV003473489 RCV004569799 RCV005036239 RCV005047128 RCV005042137 RCV003473490 RCV003466905 RCV002490612 RCV003474549 RCV003474550 RCV004566874 RCV003474551 RCV003474552 RCV003474553 RCV003474554 RCV003474556 RCV003474557 RCV000763149 RCV002490613 RCV003474562 RCV002477157 RCV003474564 RCV003474565 RCV003466907 RCV004566875 RCV005031505 RCV003474567 RCV005042143 RCV004566876 RCV003466908 RCV003466909 RCV005031508 RCV003474573 RCV005031510 RCV004566877 RCV003474574 RCV004566878 RCV003474577 RCV003474580 RCV003466911 RCV005031512 RCV003474581 RCV003474582 RCV003474583 RCV005031513 RCV003474585 RCV005042146 RCV003474586 RCV003466912 RCV000763160 RCV003474588 RCV003474589 RCV003474590 RCV003474591 RCV003474592 RCV003474593 RCV005031516 RCV003474595 RCV003474596 RCV004566879 RCV004566880 RCV003474598 RCV005031520 RCV003466913 RCV003474599 RCV004566881 RCV003474600 RCV003466914 RCV005042147 RCV003474601 RCV002504944 RCV003474602 RCV003475690 RCV003474603 RCV002496714 RCV002477161 RCV003883127 RCV004566884 RCV005042148 RCV003474604 RCV004566885 RCV005042149 RCV003474606 RCV003474607 RCV003474608 RCV005031527 RCV005031528 RCV000763154 RCV003474609 RCV003474610 RCV003466917 RCV000763155 RCV004566886 RCV003474612 RCV003474613 RCV000763566 RCV002477162 RCV004566887 RCV003474616 RCV003474617 RCV003474620 RCV004566888 RCV004566889 RCV003474622 RCV003474623 RCV003474624 RCV003474625 RCV002496744 RCV004569847 RCV003467573 RCV003473559 RCV005036276 RCV004569855 RCV004570114 RCV003473719 RCV004570403 RCV003473765 RCV004570640 RCV005040108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bronchiectasis with or without elevated sweat chloride 1, modifier of	Pathogenic	rs113993960	RCV000007524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs73715573	RCV005888511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CFTR-related disorder	Likely pathogenic; Pathogenic	rs397508233, rs1799421850, rs376008630, rs2116129596, rs2116032687, rs2116069671, rs749836021, rs2485020199, rs1798849948, rs786204693, rs397508189, rs755416052, rs797045160, rs397508416, rs397508533, rs797045159, rs113993960, rs121908745, rs77101217, rs113993958, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121909005, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs77010898, rs387906360, rs387906361, rs80034486, rs74767530, rs121909011, rs121908776, rs121909012, rs121909013, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909017, rs121909019, rs143570767, rs78194216, rs75528968, rs75039782, rs77902683, rs121908748, rs141158996, rs387906369, rs121909025, rs121909026, rs121908751, rs121908750, rs746418935, rs121908752, rs77409459, rs78802634, rs121908753, rs76554633, rs75115087, rs79633941, rs121909036, rs121908761, rs121908764, rs75389940, rs74503330, rs121908775, rs387906378, rs121909043, rs121908784, rs121908769, rs121909047, rs397508263, rs2485046547, rs387906379, rs75096551, rs1057517342, rs1057517068, rs780546355, rs121908782, rs397508709, rs1060503164, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs1554389296, rs121908812, rs121908746, rs386134230, rs121908797, rs144055758, rs76151804, rs78984783, rs193922520, rs193922521, rs193922525, rs193922532, rs797045156, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs77284892, rs121908757, rs121908779, rs79660178, rs397508762, rs397508294, rs397508163, rs121908785, rs797045162, rs397508355, rs397508405, rs397508669, rs397508693, rs36210737, rs766063304, rs121908771, rs773739166, rs141482808, rs1290078234, rs1554390859, rs367934560, rs762844777, rs1554389346, rs533959068, rs1554389062, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs77834169, rs80282562, rs121908772, rs121908768, rs79031340, rs397508426, rs1562908997, rs750558115, rs397508136, rs397508137, rs397508138, rs397508139, rs121908774, rs397508158, rs397508168, rs397508171, rs397508173, rs397508174, rs397508175, rs397508176, rs397508179, rs397508183, rs397508190, rs397508192, rs397508200, rs397508201, rs397508203, rs397508205, rs397508211, rs397508213, rs397508216, rs397508221, rs397508223, rs397508225, rs397508227, rs397508230, rs397508243, rs121908800, rs397508247, rs397508249, rs397508250, rs397508251, rs397508256, rs397508257, rs397508261, rs397508266, rs397508269, rs397508272, rs397508274, rs397508276, rs397508279, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508303, rs397508306, rs397508308, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508323, rs121908780, rs397508325, rs397508327, rs397508328, rs368505753, rs397508331, rs397508334, rs397508336, rs397508339, rs121908760, rs397508343, rs397508346, rs397508347, rs397508350, rs397508353, rs397508354, rs121908810, rs397508365, rs397508360, rs374946172, rs145449046, rs397508377, rs397508378, rs397508380, rs397508387, rs397508389, rs397508393, rs397508394, rs397508399, rs397508404, rs397508412, rs397508413, rs121908791, rs121909034, rs149790377, rs397508431, rs397508435, rs397508441, rs397508442, rs397508445, rs397508447, rs397508451, rs397508453, rs397508461, rs397508462, rs397508464, rs397508467, rs397508470, rs193922515, rs397508476, rs397508477, rs121908781, rs397508486, rs397508490, rs397508496, rs397508499, rs397508500, rs397508505, rs397508509, rs397508510, rs142394380, rs139304906, rs397508532, rs397508535, rs397508536, rs397508538, rs397508541, rs146521846, rs397508549, rs397508557, rs397508560, rs397508561, rs139729994, rs397508570, rs397508571, rs397508579, rs397508587, rs121908765, rs397508588, rs397508589, rs397508595, rs267606723, rs397508600, rs397508602, rs397508604, rs397508609, rs397508613, rs146795445, rs387906373, rs397508630, rs121908808, rs397508633, rs397508636, rs397508637, rs397508645, rs397508658, rs397508662, rs397508668, rs397508672, rs397508684, rs397508685, rs397508701, rs397508702, rs372227120, rs397508706, rs397508714, rs374705585, rs121908770, rs397508734, rs397508735, rs397508736, rs397508746, rs397508750, rs397508759, rs397508761, rs78440224, rs121908793, rs121908802, rs397508764, rs397508765, rs397508767, rs121908803, rs397508775, rs397508777, rs397508778, rs397508782, rs397508783, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508824, rs397515498, rs1584812217, rs1584786892, rs769693190, rs1584812778, rs1584813819, rs1584850172, rs1584786373, rs1805177, rs1584821306, rs1189377616, rs1792031758, rs1209386423, rs1793108213, rs1792100143, rs1792051187	RCV001831037 RCV001831198 RCV004536271 RCV001836476 RCV005607034 RCV005607020 RCV002281603 RCV002281605 RCV002281606 RCV001027912 RCV001826867 RCV001835700 RCV001828015 RCV001833133 RCV001828014 RCV001833134 RCV001831519 RCV001826426 RCV001835623 RCV001009392 RCV001009478 RCV001831520 RCV001826427 RCV001027893 RCV001831521 RCV001009533 RCV001826428 RCV001831522 RCV001826538 RCV001009367 RCV001831524 RCV001831525 RCV001826429 RCV001831526 RCV001831527 RCV001826430 RCV002228015 RCV001831528 RCV001009522 RCV001831530 RCV001831531 RCV001826431 RCV001826432 RCV001831532 RCV001831533 RCV001831534 RCV001831535 RCV001826433 RCV001826434 RCV001831536 RCV001826435 RCV001826436 RCV001831537 RCV002228016 RCV004734502 RCV001831538 RCV001831540 RCV001831541 RCV001826437 RCV001009390 RCV001831542 RCV001027908 RCV001826439 RCV001831544 RCV001826440 RCV001826441 RCV001009395 RCV001009366 RCV001831546 RCV001826442 RCV001009515 RCV001009388 RCV001009472 RCV001027902 RCV001826444 RCV001826445 RCV001826446 RCV001831549 RCV001831550 RCV001009514 RCV001831552 RCV001831553 RCV001826447 RCV001826448 RCV001826449 RCV001826450 RCV001831554 RCV001835625 RCV001826451 RCV001833367 RCV004577962 RCV005608978 RCV001027899 RCV001833494 RCV001833493 RCV001833491 RCV001828369 RCV001009393 RCV001828481 RCV001009542 RCV001826510 RCV001831607 RCV002284179 RCV001826511 RCV001835637 RCV001027915 RCV001826512 RCV002228059 RCV001831609 RCV001009474 RCV001009368 RCV001831611 RCV004724756 RCV005606636 RCV001826515 RCV001831612 RCV001834714 RCV001826528 RCV001826529 RCV001027898 RCV001826530 RCV001009372 RCV001826531 RCV001831621 RCV001826532 RCV001826533 RCV001027891 RCV001831622 RCV001829608 RCV001834826 RCV001834824 RCV001829609 RCV001835856 RCV001834823 RCV001829610 RCV001829611 RCV001834825 RCV001831623 RCV001829620 RCV001829626 RCV005606678 RCV002281577 RCV004530643 RCV001834985 RCV001830445 RCV001829871 RCV001829843 RCV004535680 RCV001830459 RCV001831710 RCV001831711 RCV001831712 RCV001826602 RCV001027892 RCV004537158 RCV001009394 RCV001831713 RCV001831714 RCV004734591 RCV001826604 RCV001825502 RCV001825531 RCV001830671 RCV004724786 RCV002281547 RCV001826606 RCV001826607 RCV001027900 RCV001027907 RCV001831718 RCV001831719 RCV001027911 RCV001831720 RCV001831721 RCV001831722 RCV001826608 RCV001831724 RCV001009516 RCV001835653 RCV001831726 RCV001826609 RCV001009519 RCV001009537 RCV001831727 RCV001831728 RCV001009387 RCV001826612 RCV002281548 RCV001826613 RCV001009541 RCV001826614 RCV001831730 RCV001835654 RCV001826615 RCV001831731 RCV001826616 RCV001826617 RCV001009517 RCV001826618 RCV001009396 RCV001826619 RCV004537225 RCV001826620 RCV001027897 RCV001831732 RCV004537226 RCV001831734 RCV001826622 RCV001009511 RCV001831736 RCV001826624 RCV001831737 RCV001835656 RCV001826625 RCV005606640 RCV002228155 RCV001826626 RCV001027890 RCV001009373 RCV001009540 RCV001009543 RCV002228156 RCV001009371 RCV004734604 RCV001831739 RCV001831740 RCV004528258 RCV001831741 RCV001831742 RCV001826627 RCV001826628 RCV001831743 RCV001009523 RCV001826629 RCV001826630 RCV001826631 RCV001826632 RCV001826633 RCV005606511 RCV001831744 RCV001835658 RCV001831745 RCV001831746 RCV001831747 RCV001826634 RCV001826635 RCV001826636 RCV001831749 RCV001831750 RCV001826637 RCV001826638 RCV001826639 RCV001826640 RCV001009528 RCV001027906 RCV001009508 RCV001826643 RCV001835659 RCV001826644 RCV001835660 RCV001009512 RCV001831754 RCV001831755 RCV001831756 RCV001826648 RCV001831758 RCV001009364 RCV001826649 RCV001831759 RCV001831760 RCV001826650 RCV001831761 RCV001009520 RCV001831762 RCV001009535 RCV001831764 RCV001831765 RCV001826652 RCV001831766 RCV001835662 RCV001826653 RCV001831768 RCV005606641 RCV001831769 RCV001835663 RCV001826656 RCV001835664 RCV001826657 RCV001826659 RCV001831770 RCV001826661 RCV001009509 RCV002281550 RCV001831772 RCV001826662 RCV001831774 RCV001009499 RCV002281551 RCV001832867 RCV001009521 RCV001826664 RCV001826665 RCV001009370 RCV001831775 RCV002281553 RCV002281554 RCV001835665 RCV001831776 RCV001009526 RCV001009531 RCV001826669 RCV001826670 RCV001831779 RCV002281555 RCV001826671 RCV001826672 RCV002228161 RCV001826673 RCV001831780 RCV001831781 RCV001826675 RCV001826676 RCV001831783 RCV001009506 RCV001831785 RCV001826677 RCV001831786 RCV002228162 RCV001826678 RCV004537231 RCV001826679 RCV001826680 RCV001826681 RCV001826682 RCV001826683 RCV001826684 RCV001831791 RCV001826685 RCV001826686 RCV001009479 RCV001826687 RCV001831793 RCV001826689 RCV001826690 RCV001831794 RCV001826691 RCV001826692 RCV001826694 RCV001831795 RCV001009385 RCV001831796 RCV001835666 RCV001831798 RCV001831799 RCV005606642 RCV001831800 RCV001835667 RCV001831801 RCV001027905 RCV001826695 RCV001826696 RCV001009386 RCV002281557 RCV001831802 RCV001831803 RCV001826699 RCV001826700 RCV001831806 RCV001009369 RCV001826701 RCV001831807 RCV001831811 RCV001827168 RCV001009510 RCV001009507 RCV001009530 RCV001009527 RCV001009529 RCV001009480 RCV001009492 RCV001009524 RCV001009397 RCV001833737 RCV001828595 RCV005606786 RCV004538530 RCV001836252 RCV005606793 RCV001830072	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholangiocarcinoma	Likely pathogenic; Pathogenic	rs73715573	RCV005888515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs2484929014	RCV005931842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bilateral aplasia of vas deferens from CFTR mutation	Likely pathogenic; Pathogenic	rs2485109599, rs2115882158, rs2485014145, rs1660096953, rs2485171208, rs672601314, rs73715573, rs397508734, rs397508189, rs755416052, rs113993960, rs121908745, rs77101217, rs113993958, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121909005, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs267606722, rs121909008, rs77010898, rs387906360, rs80034486, rs74767530, rs121909011, rs121909012, rs75961395, rs79850223, rs387906364, rs121908788, rs77646904, rs121909017, rs121909019, rs143570767, rs78194216, rs75039782, rs121908748, rs141158996, rs746418935, rs121908751, rs79282516, rs121908752, rs77409459, rs78802634, rs121908753, rs75115087, rs79633941, rs121909036, rs121908775, rs121909043, rs121908784, rs121908769, rs121909047, rs2485185956, rs75096551, rs397508746, rs780546355, rs1057516457, rs775663783, rs1554391033, rs1554391489, rs193922500, rs121908805, rs139573311, rs193922501, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922510, rs386134230, rs121908797, rs144055758, rs76151804, rs78984783, rs193922520, rs193922525, rs193922532, rs1554392023, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs121908761, rs77284892, rs121908757, rs121908779, rs121908785, rs397508405, rs36210737, rs1554381605, rs766063304, rs758900656, rs141482808, rs762844777, rs750559671, rs1351058559, rs1554389062, rs1554390864, rs1554389486, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs77834169, rs80282562, rs121908772, rs121908768, rs79031340, rs367934560, rs397508498, rs397508533, rs1562894926, rs756206533, rs397508139, rs397508144, rs397508158, rs73215912, rs397508179, rs397508192, rs397508195, rs397508196, rs397508200, rs397508203, rs397508211, rs397508221, rs121908800, rs397508256, rs397508266, rs397508269, rs397508276, rs397508285, rs397508290, rs397508295, rs397508296, rs397508300, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs121908780, rs368505753, rs397508331, rs397508333, rs121908760, rs397508346, rs397508348, rs121908810, rs374946172, rs145449046, rs397508378, rs397508380, rs397508387, rs397508389, rs397508399, rs1584789226, rs1584848754, rs397508412, rs121908791, rs149790377, rs397508442, rs397508464, rs397508470, rs193922515, rs397508476, rs397508480, rs397508499, rs397508509, rs142394380, rs397508516, rs139304906, rs397508531, rs397508535, rs146521846, rs139729994, rs397508571, rs397508587, rs397508588, rs267606723, rs397508604, rs397508609, rs387906373, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508668, rs397508695, rs397508702, rs372227120, rs397508715, rs397508716, rs374705585, rs397508718, rs397508731, rs397508732, rs397508736, rs397508744, rs121908771, rs397508758, rs397508759, rs397508761, rs78440224, rs121908793, rs121908802, rs121908803, rs397508778, rs397508783, rs397508824, rs397515498, rs1584776308, rs1584776437, rs1584812217, rs1584837090, rs1584787716, rs1584793368, rs1799425190	RCV005036837 RCV005038252 RCV005032219 RCV005032220 RCV005032221 RCV005031654 RCV000155471 RCV005032244 RCV002492691 RCV001004496 RCV001004459 RCV001004458 RCV001004456 RCV001004427 RCV000007529 RCV001004251 RCV000763569 RCV001004462 RCV001004262 RCV001004266 RCV000763572 RCV001004465 RCV000763573 RCV001004269 RCV000763574 RCV000763575 RCV001004261 RCV001004502 RCV001004480 RCV001004485 RCV000763161 RCV001004249 RCV001004513 RCV001004500 RCV000763567 RCV001004481 RCV001004234 RCV000763158 RCV005031409 RCV002490335 RCV001004460 RCV001004455 RCV001004299 RCV001004510 RCV001004298 RCV000763159 RCV001004273 RCV001004252 RCV005031413 RCV001004250 RCV001004471 RCV001004423 RCV001004453 RCV000763156 RCV005042006 RCV000763581 RCV000763568 RCV001004470 RCV005042007 RCV001004297 RCV002496301 RCV001004310 RCV001004505 RCV001004235 RCV001004265 RCV005036705 RCV000763580 RCV005038717 RCV000590394 RCV001004497 RCV001004514 RCV001004454 RCV001004487 RCV005044759 RCV000763570 RCV001004451 RCV001004452 RCV001004225 RCV005031458 RCV001004267 RCV005042090 RCV001004281 RCV000763578 RCV001004283 RCV001004421 RCV001004488 RCV001004490 RCV001004284 RCV001004290 RCV001004294 RCV001004501 RCV001004503 RCV002477013 RCV001004239 RCV005034082 RCV001004289 RCV001004282 RCV000763152 RCV001004437 RCV000763579 RCV001004507 RCV000763157 RCV000763147 RCV001004464 RCV001004279 RCV001004257 RCV005034147 RCV001004494 RCV001004256 RCV005044871 RCV001004450 RCV001004436 RCV002493108 RCV001004309 RCV001004241 RCV002485561 RCV001004483 RCV005046867 RCV001004232 RCV002490585 RCV000763148 RCV001004264 RCV001004425 RCV001004274 RCV000763150 RCV000763153 RCV005031483 RCV001004242 RCV001004245 RCV001004259 RCV001004292 RCV001004306 RCV005047044 RCV005036112 RCV005036116 RCV001004247 RCV001004248 RCV001004255 RCV001192399 RCV001004258 RCV001004445 RCV005031487 RCV001004448 RCV001004449 RCV002288549 RCV005042128 RCV005031488 RCV004795979 RCV001004228 RCV000763576 RCV005031490 RCV001004268 RCV005237478 RCV002496710 RCV005031492 RCV001004271 RCV005042129 RCV001004272 RCV005042130 RCV005042131 RCV005031494 RCV001004275 RCV001004276 RCV005031495 RCV001004280 RCV001004231 RCV002483054 RCV004795980 RCV001004468 RCV005042133 RCV005042135 RCV001004473 RCV001004474 RCV001004475 RCV001004478 RCV002477155 RCV005031498 RCV001004479 RCV005031499 RCV005036239 RCV005047128 RCV005042137 RCV005042138 RCV002490612 RCV001004486 RCV001004489 RCV000763149 RCV002490613 RCV001004286 RCV002477157 RCV001004287 RCV001004291 RCV005031505 RCV005042143 RCV001004296 RCV001004426 RCV001004303 RCV005031510 RCV001004493 RCV005031511 RCV005042145 RCV005031512 RCV005357374 RCV003483455 RCV005031513 RCV005042146 RCV000763160 RCV001004506 RCV001004429 RCV005031516 RCV001004511 RCV001004226 RCV001004512 RCV005031518 RCV005031519 RCV001004515 RCV005042147 RCV005031521 RCV002504944 RCV001004307 RCV005031522 RCV002496714 RCV001004311 RCV003883127 RCV005042148 RCV005031524 RCV001004433 RCV005042149 RCV005031526 RCV001004434 RCV005031527 RCV005031528 RCV000763154 RCV001004438 RCV001004439 RCV001004440 RCV000763155 RCV001004442 RCV000763566 RCV001004237 RCV001004244 RCV001004477 RCV001004230 RCV001004233 RCV001004278 RCV001004508 RCV005036276 RCV004796349 RCV005040108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic fibrosis	Likely pathogenic; Pathogenic	rs397508233, rs2116635157, rs1799421850, rs397508528, rs2116166586, rs2116669950, rs78756941, rs774433839, rs2485109599, rs2116039575, rs1183937142, rs2116226496, rs771259493, rs2115882158, rs2116033063, rs2116678523, rs376008630, rs2116129596, rs1798854379, rs2116166806, rs1791967656, rs2116062196, rs75527207, rs749854099, rs2115903565, rs2115937867, rs2116069700, rs2116678722, rs2116032687, rs2116683702, rs1584784895, rs2116226651, rs2116031354, rs749963273, rs2116062284, rs2116085331, rs2116166673, rs2115903081, rs2116670123, rs2116032944, rs2116166758, rs2116084282, rs1346705436, rs2116069671, rs2116675185, rs869249241, rs2116017718, rs2116683801, rs2115937855, rs121908800, rs2115938731, rs2116030992, rs2116676645, rs2116129829, rs749836021, rs2485020199, rs1798849948, rs2485134077, rs1798962805, rs2485109603, rs2485026344, rs2485121072, rs2485065991, rs2485121950, rs2485045971, rs397508224, rs2485104048, rs397508287, rs2485109059, rs767232138, rs2485109541, rs397508532, rs142540482, rs149790377, rs2485146192, rs2485130252, rs2485130569, rs2485133921, rs2485133957, rs2485146025, rs397508570, rs2485146410, rs765549490, rs121908808, rs2116220618, rs1798379068, rs2485181698, rs397508177, rs397508714, rs2485014145, rs367850319, rs2484968079, rs2485020029, rs1660096953, rs2485026699, rs2485171208, rs2485107275, rs755986694, rs2485110556, rs2484975271, rs2485128924, rs775628795, rs2485121830, rs2485045872, rs2485027177, rs2485009015, rs2485030335, rs397508407, rs672601317, rs672601316, rs672601315, rs672601314, rs73715573, rs2485181747, rs2485014160, rs397508215, rs2485133934, rs2485026524, rs2485109352, rs2485122195, rs2485110638, rs2485109080, rs2485065495, rs2485107405, rs193922504, rs2485130688, rs2485104368, rs2485110332, rs2485146248, rs1235118844, rs2485065899, rs2485009798, rs2485109280, rs2485014422, rs2485130236, rs2485159928, rs2485146150, rs2485109141, rs2485159953, rs2485020207, rs2485110441, rs2485146298, rs397508255, rs2485125382, rs1286786026, rs2485122452, rs2485014481, rs2485008844, rs121908752, rs2485009643, rs2485146231, rs2485181753, rs2485159964, rs2484928957, rs1792456337, rs1274368655, rs1487240954, rs397508734, rs2484929014, rs1584793368, rs2485014544, rs2484968388, rs2485109117, rs2485046325, rs752572716, rs397508267, rs2485114027, rs2485109512, rs2485110559, rs2485113849, rs2485122435, rs786204693, rs397508189, rs755416052, rs1554389015, rs148122007, rs2485181593, rs2485026839, rs769879940, rs797045160, rs797045161, rs387906359, rs397508416, rs397508533, rs797045159, rs2485110261, rs2484968431, rs2485026493, rs2484928848, rs2485185679, rs2485109277, rs2485130541, rs2484975614, rs2484968069, rs2485146476, rs75528968, rs2485026665, rs1030725225, rs2485109867, rs2485046140, rs2485104125, rs1165501753, rs2485146310, rs113993960, rs121908745, rs77101217, rs113993958, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121909005, rs121908758, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs121909009, rs121909010, rs387906360, rs387906361, rs80034486, rs74767530, rs387906362, rs121909011, rs121908776, rs121909012, rs121909013, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909018, rs121909019, rs143570767, rs387906366, rs78194216, rs75039782, rs77902683, rs121908748, rs387906367, rs121909023, rs141158996, rs121908766, rs387906369, rs387906370, rs121909025, rs121909026, rs121908751, rs121908750, rs121909028, rs746418935, rs79282516, rs387906371, rs121909041, rs77409459, rs78802634, rs121909031, rs121908753, rs76554633, rs121909033, rs75115087, rs79633941, rs121908773, rs121909036, rs121909037, rs79635528, rs121908761, rs121908764, rs387906375, rs75389940, rs74503330, rs121909042, rs121908775, rs387906376, rs387906377, rs387906378, rs121909043, rs1797973431, rs387906379, rs121908784, rs121908769, rs121909045, rs387906380, rs267606723, rs121909047, rs2485065803, rs397508756, rs2485017487, rs2485026683, rs3034796, rs2485185956, rs886042527, rs2485185627, rs397508263, rs1792676538, rs2485110074, rs2485122177, rs2485107328, rs2485019997, rs2485129118, rs2485030489, rs2485046547, rs2485110649, rs2485014572, rs1215272332, rs2484931786, rs2485185751, rs1284763505, rs2485109483, rs2485009200, rs1236277028, rs2485181726, rs2484968425, rs397508228, rs1584790302, rs1792647486, rs2484968022, rs1324592887, rs2485121970, rs2485065290, rs2485146562, rs2485020167, rs2485110958, rs2485030309, rs2485125404, rs2485110841, rs35396083, rs2485130293, rs2485020327, rs2485027155, rs397508176, rs1562907979, rs397508601, rs2485122173, rs151048781, rs2485008786, rs2485045880, rs2485181807, rs2485109124, rs1470125842, rs2485159948, rs2484975661, rs2485130667, rs2485185648, rs2484928875, rs2485107323, rs2485130489, rs2485030408, rs2484975593, rs2484928867, rs397508537, rs2485181943, rs397508581, rs2485027257, rs75096551, rs2485109724, rs397508746, rs2485159925, rs2485146017, rs2485122178, rs2485129172, rs1057516232, rs1057517342, rs1057516646, rs1057516619, rs1057516387, rs1057516236, rs1057517276, rs1057517068, rs1057517032, rs1057516415, rs780546355, rs1057516970, rs1057516609, rs121908782, rs1057517404, rs754392413, rs1057516457, rs397508683, rs1800135, rs397508709, rs1060503164, rs775663783, rs1554391033, rs1554391489, rs763843966, rs193922498, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922509, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922519, rs193922520, rs193922521, rs193922523, rs193922524, rs193922525, rs193922526, rs193922528, rs193922532, rs797045156, rs1554392023, rs121908767, rs77188391, rs80224560, rs121908789, rs77284892, rs121908757, rs121908779, rs79660178, rs397508762, rs397508294, rs1554379887, rs1554380497, rs397508163, rs121908785, rs1235397597, rs797045162, rs397508355, rs397508405, rs768963919, rs1554392800, rs1554392801, rs1554396393, rs375661578, rs397508669, rs1554397527, rs397508693, rs36210737, rs1554381605, rs766063304, rs758900656, rs121908771, rs773739166, rs1554379899, rs141482808, rs1554380789, rs1290078234, rs1554396384, rs756219310, rs1554390958, rs1554389836, rs1554398510, rs1801178, rs1554390859, rs1554379846, rs397508718, rs1554380311, rs1199914684, rs367934560, rs121908794, rs1554389241, rs762844777, rs750559671, rs1554381596, rs1554388867, rs397508490, rs1554389346, rs397508386, rs1554380465, rs397508650, rs200955612, rs1554397593, rs1554397769, rs1554380828, rs533959068, rs1554384343, rs1351058559, rs1554389062, rs1554390864, rs397508491, rs1554392282, rs1554392798, rs1554397750, rs984281283, rs1554389486, rs1554391454, rs1554391491, rs1554397497, rs1562895066, rs121908803, rs121908749, rs121908763, rs121908792, rs121908801, rs121908796, rs77834169, rs80282562, rs121908772, rs121908768, rs79031340, rs78909279, rs1562928927, rs1330431481, rs1317756653, rs397508476, rs1562876396, rs1562882755, rs397508256, rs1562884046, rs397508426, rs397508522, rs1562889382, rs1562890223, rs193922730, rs1562891084, rs1204521684, rs1562892359, rs1562892387, rs397508158, rs1562892823, rs1562892895, rs397508222, rs1562898465, rs1562898471, rs1562898496, rs1562898510, rs1562907260, rs1562907873, rs397508341, rs397508381, rs1562911661, rs1562911739, rs1562914082, rs1562914107, rs397508498, rs1562914200, rs1562914641, rs779177972, rs1562914838, rs397508544, rs1562919371, rs1562923164, rs397508602, rs193922732, rs397508661, rs1562928997, rs1562929633, rs1562929636, rs1562895104, rs1562907232, rs1562907896, rs1562908997, rs1562894926, rs750558115, rs1562876459, rs1562895128, rs756206533, rs1481564133, rs1562914072, rs1562923253, rs1562889180, rs1562894928, rs1562906265, rs1562908889, rs1562928854, rs1584789514, rs1584785196, rs1584793546, rs1301983423, rs1408746819, rs1584787119, rs397508136, rs397508137, rs397508138, rs397508139, rs397508140, rs397508141, rs397508144, rs121908774, rs397508146, rs397508148, rs397508150, rs397508152, rs73215912, rs397508162, rs397508165, rs397508168, rs397508169, rs397508171, rs397508173, rs397508174, rs397508175, rs397508178, rs397508179, rs397508181, rs397508182, rs397508183, rs397508184, rs397508186, rs1800074, rs397508190, rs397508192, rs397508195, rs397508196, rs151020603, rs397508197, rs397508198, rs397508200, rs397508201, rs397508203, rs397508204, rs397508205, rs397508207, rs397508208, rs397508209, rs397508211, rs397508213, rs397508214, rs397508216, rs397508217, rs397508221, rs397508223, rs397508225, rs397508227, rs397508229, rs397508230, rs397508231, rs397508243, rs397508244, rs397508246, rs397508247, rs397508249, rs397508250, rs397508251, rs397508252, rs397508253, rs397508257, rs397508258, rs397508261, rs397508266, rs397508269, rs397508272, rs397508273, rs397508274, rs397508276, rs397508277, rs397508278, rs397508279, rs397508283, rs397508285, rs397508289, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508302, rs397508303, rs397508306, rs397508307, rs397508308, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508320, rs397508323, rs121908780, rs121908809, rs397508324, rs397508325, rs397508327, rs397508328, rs368505753, rs397508331, rs397508333, rs397508334, rs397508336, rs397508339, rs121908760, rs397508343, rs397508344, rs397508345, rs397508346, rs397508348, rs397508350, rs397508351, rs397508353, rs397508354, rs397508356, rs121908810, rs397508364, rs397508365, rs397508360, rs397508368, rs374946172, rs397508371, rs145449046, rs397508372, rs397508376, rs397508377, rs397508378, rs397508379, rs397508380, rs397508382, rs397508387, rs397508388, rs397508389, rs397508391, rs397508393, rs397508394, rs397508399, rs397508400, rs1584784850, rs397508401, rs1584786454, rs1584789226, rs1584793633, rs1584848754, rs397508404, rs397508412, rs397508413, rs121908791, rs121909034, rs397508431, rs397508433, rs397508435, rs397508441, rs397508442, rs397508445, rs397508447, rs397508451, rs397508453, rs397508458, rs397508461, rs397508462, rs397508464, rs397508466, rs397508467, rs397508470, rs1562914028, rs397508472, rs397508475, rs397508477, rs397508479, rs397508480, rs397508482, rs397508484, rs121908781, rs397508486, rs1554392027, rs397508493, rs397508496, rs397508499, rs397508500, rs397508503, rs397508505, rs397508506, rs397508509, rs397508510, rs142394380, rs397508514, rs397508516, rs78769542, rs397508517, rs397508518, rs139304906, rs121908798, rs397508524, rs397508525, rs1554392248, rs397508529, rs397508531, rs397508534, rs397508535, rs397508536, rs397508538, rs397508541, rs146521846, rs397508547, rs397508549, rs397508552, rs397508555, rs397508557, rs397508558, rs397508559, rs397508560, rs397508561, rs139729994, rs397508571, rs397508572, rs397508573, rs397508575, rs397508578, rs397508579, rs397508580, rs397508582, rs397508587, rs121908765, rs397508588, rs397508589, rs397508595, rs144781064, rs1554395323, rs397508596, rs397508598, rs397508599, rs397508600, rs397508604, rs397508609, rs397508612, rs397508613, rs397508614, rs397508615, rs397508616, rs397508620, rs146795445, rs397508624, rs387906373, rs397508630, rs397508633, rs397508635, rs397508636, rs397508637, rs397508643, rs397508645, rs397508653, rs397508654, rs397508657, rs397508658, rs397508662, rs397508667, rs397508668, rs397508671, rs397508672, rs397508673, rs397508675, rs397508678, rs397508680, rs397508684, rs397508685, rs397508686, rs397508689, rs76371115, rs397508695, rs397508696, rs397508701, rs397508702, rs372227120, rs397508706, rs397508707, rs397508710, rs397508712, rs397508715, rs397508716, rs374705585, rs121908770, rs397508720, rs397508721, rs397508729, rs397508731, rs397508732, rs397508735, rs397508736, rs397508737, rs397508740, rs397508744, rs397508750, rs1562882675, rs397508758, rs397508759, rs397508760, rs397508761, rs78440224, rs121908793, rs121908802, rs397508764, rs397508765, rs397508767, rs397508768, rs397508771, rs397508775, rs397508777, rs397508778, rs397508781, rs397508782, rs397508783, rs397508784, rs397508791, rs397508794, rs397508796, rs397508797, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508816, rs397508819, rs397508820, rs397508824, rs397515498, rs1584789180, rs1584787782, rs1584798316, rs397508699, rs1584850283, rs1299250440, rs377447726, rs1584776308, rs1584776437, rs1584812217, rs1584837090, rs1584764596, rs1584785072, rs1584786892, rs769693190, rs1584787657, rs1584787716, rs397508811, rs1584789267, rs1584793451, rs1584810167, rs1381239923, rs1584812361, rs1584812425, rs1584812646, rs1584812696, rs1584812777, rs1584812778, rs1584813819, rs1584817344, rs1584819340, rs1584822237, rs1584830149, rs1584830154, rs1584837173, rs397508666, rs1584848901, rs1805177, rs1584821306, rs1584824301, rs1798858347, rs1792366769, rs1792456313, rs1798467599, rs1584821736, rs1189377616, rs1792031758, rs1799022949, rs1792671655, rs1792936385, rs1209386423, rs1799061745, rs1799216615, rs1792307406, rs1793108213, rs397508456, rs397508421, rs1800082, rs1554380515, rs1798959540, rs1296578005, rs1799418948, rs200626971, rs1799425190, rs55928397, rs1792033327, rs1792036190, rs1792036942, rs1792049376, rs1457971953, rs1792100143, rs1792246412, rs150020260, rs759116351, rs1792935619, rs1793110279, rs751098333, rs1792051187, rs1258481099, rs1793342111	RCV001328347 RCV001353372 RCV001360246 RCV001376130 RCV001376841 RCV001381447 RCV001381418 RCV001386721 RCV003486505 RCV001381092 RCV004526380 RCV001382735 RCV002284491 RCV001532983 RCV001543674 RCV001731140 RCV001731141 RCV001731143 RCV001797884 RCV001869458 RCV002359261 RCV001804239 RCV001806434 RCV001807991 RCV001825067 RCV002004527 RCV002037621 RCV001994554 RCV001900464 RCV001955699 RCV001940556 RCV001869888 RCV002002450 RCV001926736 RCV002014750 RCV001911317 RCV001920657 RCV001879275 RCV001951073 RCV001946879 RCV001956074 RCV001906033 RCV001899823 RCV001975250 RCV001952113 RCV001949559 RCV001915620 RCV001962451 RCV002007760 RCV001957737 RCV000144411 RCV002222979 RCV002223050 RCV002238574 RCV004047373 RCV002281603 RCV002281605 RCV002281606 RCV002282768 RCV002282791 RCV002281856 RCV002284239 RCV002284240 RCV002284242 RCV002284249 RCV002284516 RCV002284519 RCV002284522 RCV002284524 RCV002284525 RCV002284531 RCV002284532 RCV002284533 RCV002284534 RCV002284537 RCV002284539 RCV002284540 RCV002284541 RCV002284542 RCV002284543 RCV002284544 RCV002284547 RCV002284548 RCV002284550 RCV002284551 RCV002284552 RCV002284553 RCV002284558 RCV002284570 RCV002284578 RCV002284579 RCV002284581 RCV002284583 RCV002284584 RCV002284585 RCV002284589 RCV002284591 RCV002284593 RCV002284594 RCV002284595 RCV002284597 RCV002284598 RCV002284599 RCV002284601 RCV002284602 RCV002284603 RCV002284604 RCV002284607 RCV002287799 RCV000149425 RCV000149424 RCV000149422 RCV000149421 RCV000155471 RCV002306461 RCV002306602 RCV002306679 RCV002309578 RCV002309637 RCV002309639 RCV002309659 RCV002309666 RCV002309672 RCV002309700 RCV002309719 RCV002310012 RCV002307871 RCV002308209 RCV002308267 RCV002308301 RCV002308314 RCV002308344 RCV002309050 RCV002309160 RCV002309252 RCV002309263 RCV002309363 RCV002309425 RCV002309482 RCV002306846 RCV002306900 RCV002307080 RCV002307104 RCV002307177 RCV002307279 RCV002310300 RCV002310453 RCV002310465 RCV002310510 RCV002310574 RCV002310580 RCV002459458 RCV002321185 RCV002353097 RCV002375661 RCV002452132 RCV002457056 RCV002351181 RCV002357689 RCV002340655 RCV002344592 RCV002353423 RCV002351724 RCV002391801 RCV002405632 RCV002410094 RCV002385620 RCV002408036 RCV002414535 RCV002426287 RCV002426289 RCV002411017 RCV002457668 RCV002433336 RCV002437839 RCV000169503 RCV000169333 RCV000169111 RCV003062136 RCV003062138 RCV003079749 RCV002616239 RCV002635335 RCV000191004 RCV000191006 RCV000190991 RCV000190990 RCV000191002 RCV000191001 RCV002823680 RCV002815314 RCV002825769 RCV002837689 RCV002861908 RCV002863204 RCV002885052 RCV002876893 RCV002899299 RCV002999563 RCV003014044 RCV003028212 RCV003008465 RCV003041898 RCV003024309 RCV003043432 RCV003024642 RCV003064134 RCV000007523 RCV000007525 RCV000007526 RCV000007527 RCV000007528 RCV000007530 RCV000007531 RCV000007532 RCV000007533 RCV000007534 RCV000007535 RCV000007536 RCV000007537 RCV000056350 RCV000007539 RCV000007540 RCV000007542 RCV000007543 RCV000007544 RCV000007545 RCV000007547 RCV000007548 RCV000007549 RCV000007552 RCV000007553 RCV000007554 RCV000007555 RCV000007556 RCV000007557 RCV000007558 RCV000007559 RCV000007560 RCV000007561 RCV000007562 RCV000007563 RCV000007564 RCV000007565 RCV000007566 RCV000007567 RCV000007569 RCV000007570 RCV000007571 RCV000007572 RCV000007573 RCV000007574 RCV000007575 RCV000007576 RCV000007577 RCV000007578 RCV000007580 RCV000007581 RCV000007582 RCV000007583 RCV000007586 RCV000007587 RCV000007588 RCV000007590 RCV000007591 RCV000007594 RCV000007595 RCV000007596 RCV000007597 RCV000007598 RCV000007599 RCV000007600 RCV000007601 RCV000007602 RCV000007603 RCV000007604 RCV000007605 RCV000007606 RCV000007607 RCV000007608 RCV000007611 RCV000007613 RCV000007614 RCV000007615 RCV000007618 RCV000007619 RCV000007622 RCV000007623 RCV000007624 RCV000007625 RCV000007627 RCV000007629 RCV000007630 RCV000007631 RCV001009514 RCV000007633 RCV000007634 RCV000007636 RCV000007638 RCV000007639 RCV000007640 RCV000007641 RCV000007642 RCV000007643 RCV000590108 RCV000007647 RCV000007652 RCV000007653 RCV000007654 RCV000007657 RCV000007658 RCV000577733 RCV001004265 RCV003150893 RCV003151967 RCV003151968 RCV003151969 RCV003151971 RCV003151972 RCV001824720 RCV003230920 RCV000757843 RCV003239286 RCV000384098 RCV003296525 RCV003317759 RCV003317760 RCV003317762 RCV003317763 RCV003507500 RCV003324374 RCV003324381 RCV003328538 RCV003328542 RCV003328544 RCV003328546 RCV003328547 RCV003333944 RCV003340768 RCV003388339 RCV003388432 RCV003388688 RCV003388807 RCV003389119 RCV003445298 RCV003445365 RCV005806770 RCV005323449 RCV004701075 RCV005323450 RCV003618088 RCV005100263 RCV003448872 RCV003479848 RCV003479849 RCV003508002 RCV003507626 RCV003508336 RCV003508268 RCV003508628 RCV003508566 RCV003506817 RCV003506854 RCV003508839 RCV003508840 RCV003508842 RCV003507139 RCV003507873 RCV003507866 RCV003618295 RCV003618440 RCV003618455 RCV003618423 RCV003618566 RCV003618557 RCV003618657 RCV003617512 RCV003617398 RCV003617521 RCV003617593 RCV003617572 RCV003617632 RCV003617661 RCV003617753 RCV003619059 RCV003871884 RCV003989933 RCV003989043 RCV004018233 RCV004518532 RCV000007645 RCV004547364 RCV005038717 RCV004577116 RCV004587663 RCV004587762 RCV004587945 RCV004586428 RCV000411729 RCV000411442 RCV000411056 RCV000410831 RCV000410404 RCV000409393 RCV000410071 RCV000410112 RCV000411629 RCV000409306 RCV000412107 RCV000411144 RCV000409745 RCV000410780 RCV000411279 RCV000409738 RCV000412356 RCV000409462 RCV000411114 RCV000410790 RCV000412126 RCV000410428 RCV000410620 RCV000119251 RCV000465662 RCV001004454 RCV001009453 RCV003317246 RCV001844181 RCV000029470 RCV000029474 RCV000029475 RCV000029476 RCV000029477 RCV000029481 RCV000029483 RCV000029485 RCV000029489 RCV000029491 RCV000029492 RCV000029493 RCV000029501 RCV000029503 RCV000029504 RCV000046718 RCV000029510 RCV000029512 RCV000029513 RCV000029516 RCV000029519 RCV000029523 RCV000029526 RCV000029528 RCV000029530 RCV000029532 RCV000029534 RCV000029535 RCV000029536 RCV000029539 RCV000029541 RCV000029545 RCV000551959 RCV000536207 RCV000046775 RCV000043563 RCV000043565 RCV000043566 RCV000043564 RCV000046980 RCV000056379 RCV000056355 RCV000043664 RCV000046508 RCV000056385 RCV000576462 RCV000046458 RCV000576514 RCV000576798 RCV000056341 RCV000046247 RCV000576433 RCV000576753 RCV000191011 RCV000576375 RCV000046631 RCV000576856 RCV000576486 RCV000576693 RCV000190999 RCV000576660 RCV000047069 RCV000576801 RCV000047100 RCV000032712 RCV000583796 RCV000586160 RCV001003496 RCV000589412 RCV000587955 RCV000590773 RCV001004436 RCV000586650 RCV000587438 RCV000589248 RCV001226278 RCV000757832 RCV005407784 RCV000625819 RCV000630461 RCV000630456 RCV000667127 RCV000670963 RCV000668461 RCV000670132 RCV000670033 RCV000664670 RCV000669783 RCV000671794 RCV000667014 RCV000674872 RCV000669585 RCV000672576 RCV000669903 RCV000668886 RCV000667367 RCV000669781 RCV000674440 RCV000670493 RCV000666972 RCV000666949 RCV000670985 RCV000669479 RCV000665947 RCV000668284 RCV000672662 RCV000671423 RCV000670583 RCV000673591 RCV000673789 RCV000665519 RCV000667426 RCV000674906 RCV000666552 RCV000673744 RCV000668339 RCV000667360 RCV000671213 RCV000666274 RCV000674995 RCV000664926 RCV000678263 RCV000706499 RCV000056362 RCV000056383 RCV000056370 RCV000056352 RCV000046792 RCV000046468 RCV000056382 RCV000056394 RCV000047258 RCV000047290 RCV000056402 RCV004767035 RCV000799970 RCV002442558 RCV000757847 RCV000757833 RCV000757818 RCV000757824 RCV000757827 RCV000757830 RCV000757813 RCV000757788 RCV000757817 RCV000757846 RCV000757848 RCV000757810 RCV000757849 RCV000757850 RCV000757786 RCV000757804 RCV000757819 RCV000757820 RCV000757821 RCV000757822 RCV000757852 RCV000757790 RCV000757791 RCV000757825 RCV000757826 RCV000757793 RCV000757828 RCV000757795 RCV000757805 RCV000757806 RCV000757807 RCV000757831 RCV000757801 RCV000757814 RCV000757808 RCV000757834 RCV000757881 RCV000757835 RCV000757836 RCV000757837 RCV000757800 RCV000757838 RCV000757839 RCV000757815 RCV000757840 RCV000757841 RCV000757796 RCV000757851 RCV000757842 RCV000757845 RCV000757809 RCV000757799 RCV000757798 RCV002533831 RCV000761422 RCV000780129 RCV003323722 RCV001273247 RCV002535668 RCV001009420 RCV000785636 RCV000785638 RCV000785640 RCV000785629 RCV000785631 RCV000785635 RCV000785764 RCV000785762 RCV000785770 RCV000785763 RCV000785773 RCV000790623 RCV000822777 RCV000820702 RCV000791632 RCV000821361 RCV000799947 RCV000046190 RCV000577441 RCV000046194 RCV000056337 RCV001009438 RCV000577512 RCV001004248 RCV000046204 RCV000576945 RCV001009439 RCV002284592 RCV000577797 RCV000056340 RCV000577091 RCV000577124 RCV000577293 RCV000665109 RCV000056342 RCV001009434 RCV000577174 RCV000046255 RCV000056343 RCV000056344 RCV000056345 RCV000577812 RCV000577449 RCV000576959 RCV001004258 RCV000577391 RCV000577770 RCV000046266 RCV001953573 RCV000785637 RCV000577104 RCV000577769 RCV000046278 RCV000577746 RCV000046285 RCV000046286 RCV001007592 RCV001009443 RCV000056347 RCV000046291 RCV000056348 RCV000577569 RCV000577177 RCV000046300 RCV002394265 RCV004767041 RCV000577552 RCV000056349 RCV001009387 RCV000577263 RCV000576357 RCV000046319 RCV000577075 RCV000577239 RCV000757811 RCV001009541 RCV000046342 RCV000577289 RCV000576560 RCV001377419 RCV001009440 RCV000577663 RCV000046367 RCV000577757 RCV000576651 RCV000577099 RCV000577584 RCV001009430 RCV000046380 RCV000046382 RCV001009517 RCV000046387 RCV000577566 RCV000757812 RCV000046399 RCV000577016 RCV001009429 RCV000046407 RCV000046411 RCV000046417 RCV000576677 RCV000577631 RCV000577088 RCV000577294 RCV000577563 RCV000046430 RCV000576635 RCV000577252 RCV000046434 RCV000577599 RCV000577826 RCV000046437 RCV000577818 RCV000577317 RCV000577540 RCV000577130 RCV000576840 RCV000056353 RCV000046463 RCV000046464 RCV000757829 RCV000056354 RCV000577703 RCV000757803 RCV001004272 RCV000577024 RCV002284248 RCV000046477 RCV001009373 RCV000577395 RCV000665515 RCV000046486 RCV000577469 RCV000577180 RCV000577786 RCV000046494 RCV000577750 RCV000577206 RCV000577807 RCV000577648 RCV000046511 RCV000577042 RCV000577201 RCV000046515 RCV000577577 RCV000056356 RCV000056357 RCV000046523 RCV000046525 RCV001009523 RCV000577677 RCV000046532 RCV000801495 RCV001009461 RCV000056359 RCV000576466 RCV001009462 RCV000577719 RCV000785630 RCV001214837 RCV000056360 RCV000577223 RCV000056361 RCV001009459 RCV001009455 RCV000056363 RCV001009458 RCV000577388 RCV000046577 RCV001009468 RCV001922461 RCV000046582 RCV000577054 RCV000046586 RCV000577817 RCV001993398 RCV000576941 RCV000577213 RCV000056365 RCV004701076 RCV000577810 RCV000577412 RCV000056366 RCV001009465 RCV001009446 RCV001009466 RCV001009448 RCV000056367 RCV000046615 RCV000577243 RCV000056368 RCV000046624 RCV000855422 RCV000576912 RCV000855423 RCV000855424 RCV000855425 RCV000855426 RCV000855427 RCV001009508 RCV000577222 RCV000576641 RCV000577561 RCV000046644 RCV000576558 RCV001009452 RCV000056369 RCV000046665 RCV000046670 RCV000664921 RCV001009450 RCV000577517 RCV000046684 RCV000576969 RCV000056371 RCV000046696 RCV000056372 RCV000046704 RCV000056373 RCV000046710 RCV000056374 RCV000576989 RCV000056375 RCV000577309 RCV000763149 RCV004800082 RCV000577122 RCV002490613 RCV000046741 RCV000785760 RCV000046747 RCV000577236 RCV000577491 RCV000046751 RCV000046752 RCV000577028 RCV000577175 RCV000046758 RCV000577461 RCV000577781 RCV000046765 RCV000576952 RCV000577371 RCV000576984 RCV001009407 RCV000046781 RCV000577654 RCV000046784 RCV000576454 RCV001009408 RCV000046791 RCV000664999 RCV001382997 RCV000046801 RCV000046807 RCV000577785 RCV000577502 RCV000577722 RCV000577823 RCV000577217 RCV001009404 RCV000577220 RCV000056377 RCV000056378 RCV000577588 RCV000577738 RCV002002562 RCV000577345 RCV000577052 RCV003508841 RCV000577522 RCV000046855 RCV000576929 RCV002284600 RCV000577192 RCV000785632 RCV000046861 RCV000056381 RCV000577688 RCV000577360 RCV005200642 RCV001731142 RCV001009406 RCV000577123 RCV001009521 RCV000576944 RCV000757816 RCV001389828 RCV000576362 RCV000046899 RCV000577266 RCV000577691 RCV000785634 RCV000577354 RCV000577078 RCV000670642 RCV000577567 RCV000577295 RCV000577595 RCV000577604 RCV001193676 RCV001852981 RCV002284587 RCV000046933 RCV000056384 RCV001009399 RCV000577418 RCV000577425 RCV001009400 RCV000576505 RCV000576710 RCV000576946 RCV000046958 RCV000577207 RCV001387159 RCV000056386 RCV000668850 RCV000577065 RCV000046973 RCV000577044 RCV000577251 RCV000577787 RCV000577107 RCV000577368 RCV000577632 RCV000577082 RCV000577232 RCV000576323 RCV000577716 RCV000047015 RCV000047016 RCV000047018 RCV000577151 RCV000577001 RCV000577150 RCV000047026 RCV000577524 RCV000577670 RCV000047036 RCV000577173 RCV000576921 RCV000577015 RCV000757844 RCV000047055 RCV000785642 RCV002284250 RCV000056390 RCV000577216 RCV000047072 RCV001009425 RCV000047076 RCV000757787 RCV000577744 RCV000047087 RCV000047088 RCV000577362 RCV001009422 RCV000577519 RCV000577674 RCV001009423 RCV000577074 RCV000047110 RCV000047111 RCV000576317 RCV001004307 RCV000056391 RCV000047120 RCV000577255 RCV004823160 RCV000577158 RCV000577183 RCV000577497 RCV000047135 RCV000056392 RCV000577096 RCV000577704 RCV000577102 RCV000577278 RCV000757854 RCV000577437 RCV000577754 RCV000672764 RCV000577657 RCV000576939 RCV000577076 RCV000047170 RCV000576848 RCV000047175 RCV000577574 RCV000047179 RCV000056393 RCV000047188 RCV000785759 RCV000577568 RCV000577109 RCV000763154 RCV001379902 RCV000056396 RCV000056397 RCV000577168 RCV000056398 RCV000056399 RCV000577325 RCV000577485 RCV001009409 RCV000577170 RCV000056400 RCV001272230 RCV000576668 RCV000577306 RCV000056401 RCV000577626 RCV000047234 RCV000047235 RCV002281557 RCV000047246 RCV000047247 RCV000577335 RCV000577762 RCV000047257 RCV000577538 RCV000047263 RCV000047272 RCV001009416 RCV000577560 RCV000577040 RCV001009412 RCV000576978 RCV001009414 RCV000047303 RCV000056364 RCV001062588 RCV003989613 RCV000987958 RCV000987962 RCV000987966 RCV000987968 RCV002284454 RCV001056339 RCV001004230 RCV001004233 RCV001004278 RCV001004508 RCV001009447 RCV001009424 RCV001009510 RCV001009507 RCV001009417 RCV001009418 RCV001009411 RCV001009413 RCV001009442 RCV001009444 RCV001009433 RCV001009530 RCV001009432 RCV001009460 RCV001009457 RCV001009467 RCV001009464 RCV001009527 RCV001009529 RCV001009449 RCV001009445 RCV001009405 RCV001009401 RCV001009402 RCV001009419 RCV001009427 RCV001009428 RCV001009431 RCV001009435 RCV001009524 RCV001009397 RCV001009403 RCV001380567 RCV001064386 RCV001039049 RCV001058685 RCV001038806 RCV001069654 RCV001048093 RCV001174678 RCV001192431 RCV001193104 RCV001215678 RCV001215372 RCV001213927 RCV001236737 RCV001238236 RCV001250526 RCV001250572 RCV001250517 RCV001250570 RCV001260358 RCV001260428 RCV001261552 RCV001264350 RCV001264351 RCV001264352 RCV001264353 RCV001264354 RCV001264355 RCV001264356 RCV001264357 RCV001263575 RCV001263576 RCV001263577 RCV001263578 RCV001263579 RCV001263580 RCV001263581 RCV001263582 RCV001263867 RCV001263868 RCV001263869 RCV001263870 RCV001263871 RCV001263872 RCV001269212 RCV004526104 RCV001290579	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic fibrosis diagnostic test	Pathogenic; Likely pathogenic	rs113993960, rs77101217, rs113993959, rs77010898, rs80034486, rs75961395, rs75528968, rs77932196, rs121908769, rs75096551, rs193922504, rs77284892, rs397508158, rs397508200, rs397508276, rs397508296, rs121908760, rs374946172, rs397508378, rs149790377, rs397508442, rs397508447	RCV005865162 RCV005865163 RCV005865164 RCV005865165 RCV005865166 RCV005865167 RCV005865168 RCV005865169 RCV005865171 RCV005865170 RCV005865194 RCV005865199 RCV005865212 RCV005865213 RCV005865214 RCV005865215 RCV005865216 RCV005865218 RCV005865219 RCV005865221 RCV005865222 RCV005865223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Duodenal stenosis	Pathogenic	rs113993960	RCV000626692	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs73715573	RCV005888508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pancreatic carcinoma	Likely pathogenic; Pathogenic	rs73715573, rs78756941	RCV005888512 RCV005888843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs397508198	RCV005890346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs1554382608	RCV004541575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary pancreatitis	Likely pathogenic; Pathogenic	rs2485109599, rs2115882158, rs121909042, rs80282562, rs2115902766, rs2115903582, rs2116032755, rs1792307406, rs2116085156, rs2116129829, rs2485014145, rs1660096953, rs2485171208, rs672601314, rs73715573, rs397508734, rs397508189, rs2485181593, rs797045159, rs113993960, rs121908745, rs77101217, rs113993958, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121909005, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs267606722, rs121909008, rs77010898, rs387906360, rs80034486, rs74767530, rs121909011, rs121909013, rs75961395, rs79850223, rs387906364, rs121908788, rs121909017, rs121909019, rs143570767, rs78194216, rs75039782, rs121908748, rs141158996, rs387906369, rs121908752, rs121909041, rs77409459, rs78802634, rs121908753, rs79633941, rs121908775, rs121909043, rs121908784, rs121908769, rs3034796, rs2485185956, rs75096551, rs397508746, rs1060503164, rs1554382608, rs1554391489, rs193922500, rs121908805, rs139573311, rs193922501, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs386134230, rs144055758, rs76151804, rs193922520, rs193922525, rs1554392023, rs78756941, rs80224560, rs121908761, rs77284892, rs121908757, rs397508405, rs36210737, rs766063304, rs141482808, rs762844777, rs1554389062, rs1554389486, rs121908749, rs121908763, rs121908792, rs121908796, rs77834169, rs121908772, rs121908768, rs79031340, rs1330431481, rs1562898489, rs1562894926, rs756206533, rs397508144, rs121908774, rs73215912, rs397508195, rs397508198, rs397508211, rs397508221, rs397508266, rs397508269, rs397508276, rs397508290, rs397508295, rs397508296, rs397508300, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs368505753, rs397508331, rs397508333, rs397508346, rs397508348, rs374946172, rs397508378, rs397508380, rs397508387, rs397508399, rs1584789226, rs1584848754, rs397508412, rs121908791, rs121909034, rs397508442, rs397508464, rs397508470, rs397508476, rs397508499, rs397508509, rs139304906, rs397508531, rs146521846, rs139729994, rs397508571, rs397508587, rs397508588, rs267606723, rs397508609, rs387906373, rs121908808, rs397508637, rs397508658, rs397508668, rs397508695, rs397508702, rs372227120, rs397508706, rs397508715, rs397508716, rs374705585, rs397508718, rs397508731, rs397508732, rs397508736, rs397508744, rs397508758, rs397508759, rs397508761, rs121908793, rs121908802, rs121908803, rs397508778, rs397508783, rs397515498, rs1584787716, rs1799425190	RCV005036837 RCV005038252 RCV002248991 RCV002249341 RCV002249343 RCV002249344 RCV002249347 RCV002249348 RCV002249349 RCV002249350 RCV005032219 RCV005032220 RCV005032221 RCV005031654 RCV005431500 RCV005032244 RCV002492691 RCV004765665 RCV002247617 RCV000119038 RCV002496293 RCV002496294 RCV002247259 RCV000763151 RCV002504761 RCV000763569 RCV002496295 RCV002504762 RCV005042002 RCV000119041 RCV002247260 RCV000763573 RCV002490333 RCV000119040 RCV000763575 RCV002476941 RCV005031406 RCV005042003 RCV005031407 RCV000763161 RCV005031408 RCV002255995 RCV002504763 RCV000763567 RCV002247261 RCV002490334 RCV000763158 RCV005031409 RCV002490335 RCV000763571 RCV002496297 RCV002496298 RCV002496299 RCV000763159 RCV002496300 RCV005031412 RCV005031413 RCV003996079 RCV005042005 RCV000763156 RCV002247264 RCV005042006 RCV000763581 RCV000763568 RCV005042007 RCV002496301 RCV005031414 RCV005031416 RCV002496302 RCV001195832 RCV005036705 RCV000763580 RCV005038717 RCV003230503 RCV004526692 RCV005044759 RCV000763570 RCV005042089 RCV002477011 RCV005031456 RCV005031458 RCV002477012 RCV005042090 RCV005031459 RCV000763578 RCV005031460 RCV005042091 RCV005042092 RCV002482911 RCV002496446 RCV002247398 RCV005034082 RCV002490440 RCV000763152 RCV000763579 RCV000763157 RCV000763147 RCV002247407 RCV002248790 RCV005034147 RCV002496491 RCV005044871 RCV005034155 RCV002493108 RCV002485561 RCV005046867 RCV005031482 RCV002490585 RCV000763148 RCV004795959 RCV000763150 RCV000763153 RCV005031483 RCV005031484 RCV005042122 RCV005431909 RCV002249345 RCV005047044 RCV005036112 RCV005036116 RCV002496707 RCV003221797 RCV005229866 RCV005031487 RCV001197496 RCV005042128 RCV005031488 RCV000763576 RCV005031490 RCV005031491 RCV002496710 RCV005031492 RCV005031493 RCV005042129 RCV005042130 RCV005042131 RCV005031494 RCV005042132 RCV002490611 RCV005031495 RCV002247433 RCV002483054 RCV004795980 RCV005042133 RCV005042135 RCV005042136 RCV002496712 RCV002477155 RCV001197557 RCV005031499 RCV005036239 RCV005047128 RCV005042137 RCV005042138 RCV002490612 RCV002256032 RCV005031500 RCV000763149 RCV002490613 RCV002477157 RCV005031505 RCV005042143 RCV005031508 RCV005031510 RCV005031511 RCV005042145 RCV005031512 RCV003483455 RCV005031513 RCV005042146 RCV000763160 RCV005031514 RCV005031516 RCV005031517 RCV005031518 RCV005031519 RCV005031520 RCV005042147 RCV005031521 RCV002504944 RCV002247438 RCV005031522 RCV002496714 RCV002247439 RCV003883127 RCV005042148 RCV005031524 RCV005042149 RCV005031526 RCV005031527 RCV005031528 RCV000763154 RCV005394277 RCV002490616 RCV000763155 RCV005031529 RCV000763566 RCV002477162 RCV002496744 RCV005036276 RCV005040108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ivacaftor / lumacaftor response - Efficacy	Pathogenic	rs113993960	RCV001787370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ivacaftor / tezacaftor response - Efficacy	Pathogenic	rs113993960	RCV001787371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ivacaftor response - Efficacy	Pathogenic	rs113993958, rs78655421, rs74551128, rs121908755, rs121909005, rs75527207, rs121909013, rs121908752, rs121909041, rs121908753, rs74503330, rs193922525, rs121908757, rs77834169, rs80282562, rs397508256, rs368505753, rs397508442, rs267606723, rs397508759	RCV000660769 RCV000417156 RCV000660853 RCV000211264 RCV000211129 RCV000211289 RCV000211256 RCV000660772 RCV001787320 RCV000660773 RCV000211301 RCV000211255 RCV000211346 RCV003227627 RCV000211246 RCV000660826 RCV000660821 RCV000660828 RCV000211150 RCV000660831	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs73715573	RCV005888516	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Likely pathogenic; Pathogenic	rs73715573	RCV005888513	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs73715573	RCV005888509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma-pancreatic cancer syndrome	Pathogenic	rs121908761	RCV006249567	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs73715573	RCV005888510	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obstructive azoospermia	Pathogenic; Likely pathogenic	rs747139295, rs113993960, rs78655421, rs121909016, rs121908805, rs144055758, rs397508761	RCV001648515 RCV001642198 RCV001642199 RCV001642201 RCV001642234 RCV001642235 RCV001646982	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	Pathogenic; Likely pathogenic	rs78655421, rs397508558	RCV004018585 RCV004018953	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent pancreatitis	Pathogenic	rs113993960	RCV000626693	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic; Likely pathogenic	rs78655421, rs121909043, rs80224560	RCV005646759 RCV005430922 RCV005416027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs73715573, rs397508230	RCV005888514 RCV005890347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure, Y-linked, 2	Pathogenic	rs80034486	RCV002287325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sweat chloride elevation without cystic fibrosis	Likely pathogenic; Pathogenic	rs121909043	RCV000007644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs73715573	RCV005888517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the pancreas	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HEREDITARY CHRONIC PANCREATITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AZOOSPERMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIECTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLEDOCHAL CYST	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic pancreatitis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic sinusitis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital bilateral absence of vas deferens	Conflicting classifications of pathogenicity; drug response	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL BILATERAL APLASIA OF VAS DEFERENS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal cystic hygroma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BRONCHIECTASIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung disease, non-specific	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	drug response	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis 14	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PANCREATITIS, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS, PULMONARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SINUSITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	21844753, 25869325		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	28445932, 31541940		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	12218938, 12422349, 14576497, 15238770, 19844201, 26100556, 27086061, 30132293, 31088717, 31611131, 31799301		★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	BEFREE	12825076, 16193325, 17575549, 18360295, 19844201, 20950468, 23416327, 31268981, 31420175, 31799301		★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	ORPHANET_DG	25003218, 25383785		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	12939655		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16799633, 17932045		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21585618, 30852378		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	27527254		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	30358020		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30384810		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	14688470, 16799633, 19885835, 25003218, 9756374		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	12939655		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	22697347		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	7531792		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30580531		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	30580531	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	33357513	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23462326, 31191661		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aquagenic palmoplantar keratoderma	Aquagenic Palmoplantar Keratoderma	Orphanet			★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	31683989, 34934215	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10445602, 25310716	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	20597081		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	23582645		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10571949, 11354633, 16212675, 16678395, 16678503, 18757309, 20298391, 20879059, 21999194, 22324837, 22332135, 22533779, 22664493, 24440239, 27714410, 30268379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	15665983, 16212675, 22324837, 22332135, 26526220, 34086689, 35451201, 35933722	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	36199823	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29247329		★☆☆☆☆ Found in Text Mining only
Autoimmune Pancreatitis	Autoimmune pancreatitis	Pubtator	20080093, 25869325	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Hereditary Pancreatitis	Pancreatitis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	CTD_human_DG	18988797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	BEFREE	10341008, 11466205, 11756355, 12801574, 12919133, 14998938, 18616886, 20021716, 21679131, 22709980, 28384194, 31672438, 8671256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	CTD_human_DG	10856487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	Pubtator	10856487, 11756355, 12801574, 17572159, 21976147, 25386751, 26277102, 32757986, 32930103, 33095972, 37489040, 37510311, 37540677, 37895049, 38114870, 38254935	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36259570	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	11788091, 31820482		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	27527254		★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	28751295	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	30358741, 34392560	Associate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary hyperplasia	Biliary hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22529986		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	24060979, 27709245		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33258950	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	30843951	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26328275, 31721358, 8616723, 9761117		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37175647, 40641097	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	16678395		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	10445602, 10773783, 11354633, 11420207, 12123489, 12940920, 15126740, 15151509, 18507830, 20167849, 21837768, 25797027, 26526220, 27709245, 28068001, 29132121, 31842871, 7543317, 9272738, 9507393, 9921909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	Pubtator	10445602, 16678503, 18507830, 21658649, 22201161, 23555973, 24225052, 25049054, 25310716, 25797027, 26526220, 30033373, 30279124, 31842871, 32398304, 32948498, 35627274, 36828084, 36982273	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchitis	Bronchitis	BEFREE	15104594, 17137500, 21329791, 22332135, 28923049		★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	Pubtator	22332135	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis Chronic	Bronchitis	Pubtator	15463907, 22768130, 32398304	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	10503135, 15126740, 16497995, 21990373, 31477092, 7532152, 9921909		★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	15665983	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15526362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	10437775	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22529986		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11322483, 20116881, 21585618, 30384810		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27034411, 32113160	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21496124	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28314540		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	38062767	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	30498130, 30737369, 30874543, 30898172, 30981209, 31321000		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	30898172	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29761302		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22366595, 23640294		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervix carcinoma	Cervix carcinoma	BEFREE	22366595, 23640294		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	16678395, 20879059		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	22696060		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12184527		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangitis	Cholangitis	BEFREE	10094942		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	29807875	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	LHGDN	12783301, 17719926, 17719933, 18992954		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst	Choledochal Cyst	CTD_human_DG	18988797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choledochal Cyst	Choledochal Cyst	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choledochal Cyst, Type I	Choledochal Cyst	CTD_human_DG	18988797		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type II	Choledochal Cyst	CTD_human_DG	18988797		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type III	Choledochal Cyst	CTD_human_DG	18988797		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type IV	Choledochal Cyst	CTD_human_DG	18988797		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type V	Choledochal Cyst	CTD_human_DG	18988797		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	35627274	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	18955805	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	9934970		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	7543684		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	16678503	Associate	★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	15771606, 17517257, 21727111, 22753926		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	11354633, 15463907, 18652532, 20298391, 21135173, 21329791, 23226399, 24755862, 24925916, 27115950, 27561233, 27585394, 27714410, 28006950, 28592822, 29130366, 29132121, 29321495, 29540993, 29750581, 29849907, 31477092, 31541117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18652532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic sinusitis	Sinusitis	BEFREE	11773581, 11813900, 15126740, 22186243, 27860385, 28597597, 31050570		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	12142464	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	32240833, 34663162	Associate	★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	35915048	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27298017	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16540796		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12181169, 35733095	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10089213, 12349828, 1717947, 21140215, 24373847, 7543684		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	7523390	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14688470, 26751771, 31636470		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24373847, 30985981, 36253274, 36812239, 37175647, 37296477	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduct Disorder	Conduct disorder	Pubtator	35471184	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	18685558, 20512161	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35922154	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	11119745, 22340520		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	11119745		★☆☆☆☆ Found in Text Mining only
Congenital absence of lung	Congenital lung agenesis	BEFREE	26709821		★☆☆☆☆ Found in Text Mining only
Congenital absence of vas deferens	Absent vas deferens	BEFREE	10341008, 10875853, 10923036, 11101688, 11466205, 11471192, 11756355, 15333598, 16379540, 17413420, 19181743, 20021716, 22103471, 22148899, 22340520, 24958810, 26277102, 30811104, 31672438, 31709488, 7542209, 8627844, 8796848, 8825494		★☆☆☆☆ Found in Text Mining only
Congenital absence of vas deferens	Absent vas deferens	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	12475673, 27488005, 8627844		★☆☆☆☆ Found in Text Mining only
Congenital bilateral aplasia of vas deferens	Congenital bilateral absence of vas deferens	Pubtator	10099982, 10762539, 11119745, 11756355, 12801574, 14685937, 15287992, 15482777, 15705389, 15870673, 16272798, 16581722, 16778595, 17127107, 17314234, 17398169, 17413420, 17662673, 17673436, 17823699, 17975025, 18703181, 18755906, 18796364, 19092444, 20532200, 20657600, 20717170, 20972246, 21658649, 21976147, 22148899, 22483971, 22842702, 23555973, 24559724, 25042876, 25386751, 26277102, 27476656, 27488005, 28196530, 29986553, 30450785, 30811104, 31709488, 31845523, 31872980, 32020786, 32539862, 32757986, 32930103, 32951344, 33095972, 34145097, 34510807, 34755701, 35119551, 37489040, 37510311, 38003474, 38284450, 39356031, 7529962, 7539210, 7739684, 8697849, 9591500, 9678705	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15823847		★☆☆☆☆ Found in Text Mining only
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	BEFREE	26694899		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	35627274	Associate	★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	22992393		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	18326723		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12349828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21378990		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	19652440, 27298017, 35816621, 36842446, 39756424	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	36662267	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	11025834, 27860385, 29193105, 31050570		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	17206681		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20510657, 22436048	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	22709980		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	33095972	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	12355171		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	9261986		★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	10325907, 11147574, 19603002, 20504917, 22312017, 24925916, 25453871, 27732613, 28853905, 34404863, 35190293, 37087300	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10050655, 10100991, 10101000, 10160212, 10195071, 10195826, 10200050, 10207162, 10228112, 10230924, 10325907, 10330420, 10340929, 10376575, 10378526, 10386624, 10392242, 10401194, 10419506, 10444722, 10454765, 10456926, 10459902, 10464626, 10466626, 10476227, 10482622, 10503604, 10526657, 10539904, 10567629, 10576193, 10581360, 10587528, 10601093, 10609658, 10612489, 10636451, 10649490, 10652351, 10656877, 10657937, 10671057, 10687897, 10712334, 10720935, 10751364, 10762539, 10764788, 10766763, 10773783, 10775641, 10798353, 10834512, 10836331, 10853862, 10872417, 10898717, 10918483, 10923036, 10925568, 10950058, 10958769, 10970817, 10970832, 11001491, 11014859, 11025834, 11055897, 11069835, 11100963, 11104661, 11110839, 11115444, 11118444, 11121762, 11155209, 11158459, 11168024, 11208524, 11228252, 11242048, 11287314, 11298840, 11307750, 11322483, 11358378, 11388756, 11390189, 11397325, 11403205, 11420207, 11438995, 11443282, 11462248, 11472107, 11485629, 11487480, 11491166, 11495691, 11509829, 11580305, 11589722, 11591888, 11694004, 11706320, 11713441, 11713719, 11733566, 11739639, 11753361, 11756355, 11773581, 11774129, 11786964, 11788089, 11788090, 11788092, 11802244, 11804193, 11823525, 11854474, 11932230, 11945068, 11978765, 11984593, 12000363, 12001283, 12007216, 12032730, 12070134, 12079272, 12080183, 12083969, 12109214, 12116247, 12120234, 12124743, 12127423, 12161441, 12167682, 12189717, 12200467, 12215837, 12226741, 12231476, 12241542, 12349828, 12386452, 12394343, 12397022, 12403695, 12409506, 12464670, 12475759, 12483292, 12503104, 12531063, 12554626, 12651880, 12677168, 12767731, 12770774, 12783301, 12783613, 1281034, 12820707, 12825202, 1283149, 12832418, 1284534, 1284535, 1284538, 1284539, 1284642, 1285365, 12865275, 12874665, 12885347, 12913074, 12919133, 12930913, 12940920, 12952861, 12955726, 1301197, 1370488, 1370653, 1370807, 1371114, 1371263, 1372253, 1372891, 1373908, 1375156, 1375186, 1376016, 1376017, 1376182, 1376297, 1377820, 1378801, 1379210, 1379473, 1380129, 1380483, 1380486, 1380673, 1381723, 1382222, 1384582, 14515130, 14527202, 14534336, 14534402, 14551163, 14555458, 14569807, 14605249, 14623323, 14632577, 14662004, 14688350, 14696845, 14699484, 14701827, 14729871, 14747162, 14757935, 14760158, 14762183, 15024729, 15028554, 15070876, 15084222, 15088804, 15097853, 15105504, 15126691, 15141088, 15148387, 15151509, 15163550, 15173476, 15181619, 15300780, 15334505, 15357563, 1536179, 15365999, 15367921, 15371903, 15371905, 15371908, 15447951, 15454960, 1545831, 15463806, 15463861, 15463893, 15463906, 15463921, 15463934, 15463935, 15463936, 15469408, 15480987, 15482777, 15490240, 15507460, 15516474, 15564131, 15573389, 15612029, 15614862, 15615854, 15618584, 15661927, 15668502, 15672947, 15673927, 15677769, 15694001, 15698945, 15698946, 15699697, 15705292, 15716623, 15719171, 15738290, 15741992, 15746099, 15758625, 15771606, 15772171, 15776432, 15784035, 15790988, 15829248, 15841482, 15868140, 15870673, 15880796, 15891431, 15893109, 15897385, 15905293, 15915083, 15936089, 15964250, 15987793, 15994263, 15996905, 16001392, 16014420, 16049310, 16051214, 16078047, 16084692, 16114821, 16124861, 16127463, 16134171, 16137181, 16144754, 16182665, 16182667, 16185859, 16189704, 16193325, 16202788, 16207846, 16281647, 16284361, 16311240, 16379540, 16384879, 16423550, 16435054, 16436643, 16436646, 16443646, 16454991, 16455659, 16463024, 16464259, 16472140, 16540752, 16541275, 16541975, 16543719, 16554808, 16596947, 16628629, 16637013, 16690975, 16691490, 16713399, 16714368, 16715841, 16763370, 16787252, 16832834, 16837250, 16857845, 16870510, 16883063, 1691449, 16931591, 1695717, 16963320, 1698126, 16987934, 1699127, 1699669, 17003555, 17015492, 17017989, 17018149, 17020473, 17022692, 17030173, 17033796, 17036051, 17048214, 17053783, 1705554, 17082494, 1709842, 17098482, 17098864, 17099022, 1710599, 1712752, 1712898, 1713683, 17137500, 1715311, 17158822, 1716180, 1716244, 1717363, 1717947, 1718277, 1718974, 17194447, 17197571, 1719763, 17204267, 17206681, 1721624, 1722027, 1722350, 17234733, 17242497, 1726721, 17287432, 17289674, 17324393, 17331079, 17337503, 17339840, 17353351, 17382898, 17394390, 17394391, 17394637, 17400751, 17443603, 17481968, 17495464, 17502391, 17502834, 17510306, 17517257, 17531547, 17532368, 17534127, 17560176, 17562499, 17573123, 17579582, 17584036, 17594397, 17594398, 17603939, 17627383, 17632692, 17637798, 17652219, 17654517, 17662673, 17825628, 17827250, 17869070, 17913705, 17932045, 17948127, 17975025, 17985657, 17989361, 18047735, 18056267, 18064359, 18080175, 18178635, 18184109, 18234567, 18243066, 18262467, 18272502, 18280224, 18285607, 18294702, 18325992, 18336667, 18388933, 18388934, 18397707, 18424453, 18456578, 18467194, 18487356, 18493878, 18498235, 18506640, 18556774, 18563170, 18600482, 18639722, 18647844, 18657606, 18658148, 18685558, 18703403, 18722008, 18757309, 18769032, 18769034, 18778196, 18782298, 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29246444, 29251738, 29251932, 29255267, 29262343, 29263106, 29264936, 29275953, 29279204, 29281691, 29282053, 29286300, 29289532, 29298718, 29314745, 29316712, 29320887, 29327948, 29333001, 29342367, 29351441, 29351448, 29351449, 29360847, 29402832, 29403380, 29411041, 29415893, 29415993, 29427548, 29444099, 29449653, 29461009, 29467332, 29467455, 29486923, 29488691, 29503157, 29515516, 29520692, 29524019, 29531530, 29533733, 29538046, 29540993, 29549268, 29554588, 29569753, 29580110, 29589582, 29624923, 29635781, 29653946, 29694855, 29703608, 29709203, 29722564, 29731717, 29732561, 29743276, 29750581, 29750923, 29752334, 29754957, 29781578, 29782810, 29805046, 29849907, 29855230, 29860639, 29864241, 29875161, 29877096, 29886024, 29895311, 29903467, 29903751, 29910178, 29914989, 29924966, 29933897, 29933921, 29934203, 29969945, 29986884, 29997283, 29999593, 30006147, 30006345, 30021582, 30029855, 30046002, 30061653, 30062693, 30063324, 30063865, 30063867, 30069046, 30070364, 30071276, 30073878, 30077689, 30089726, 30089827, 30101632, 30107029, 30111276, 30118352, 30120123, 30124524, 30129380, 30130412, 30131695, 30133731, 30134826, 30136610, 30139657, 30152192, 30152709, 30158080, 30158635, 30165523, 30166324, 30168731, 30171436, 30177416, 30185452, 30188751, 30232781, 30241412, 30266876, 30268148, 30269055, 30278331, 30279124, 30281975, 30282831, 30282922, 30289627, 30296588, 30297908, 30306206, 30327603, 30334692, 30334693, 30340955, 30341603, 30349480, 30359078, 30359614, 30366849, 30381911, 30384810, 30389601, 30405068, 30408177, 30416443, 30419605, 30427731, 30444886, 30459277, 30459435, 30467074, 30472785, 30485852, 30488522, 30504720, 30507207, 30521551, 30529125, 30538635, 30540818, 30546102, 30549259, 30554331, 30558651, 30563749, 30573241, 30577776, 30580531, 30584312, 30585791, 30596737, 30598261, 30618777, 30633378, 30639531, 30640865, 30643021, 30662403, 30668920, 30670178, 30686767, 30704755, 30726326, 30728389, 30737168, 30737369, 30738013, 30738802, 30742493, 30753450, 30759393, 30760291, 30761000, 30763667, 30774592, 30813645, 30816976, 30825185, 30827333, 30836009, 30848661, 30851139, 30852378, 30873022, 30874543, 30879989, 30888834, 30898088, 30913015, 30915480, 30918110, 30918114, 30921517, 30929526, 30938940, 30956155, 30956978, 30962536, 30967347, 30969810, 30975115, 30985981, 30992452, 30995102, 30996306, 31006073, 31012285, 31014000, 31019198, 31027466, 31031161, 31046783, 31048413, 31053538, 31056441, 31076617, 31094240, 31102574, 31107611, 31118044, 31118097, 31136843, 31140758, 31143125, 31145101, 31147302, 31148213, 31164398, 31169041, 31173911, 31176886, 31182369, 31184507, 31187952, 31189070, 31199594, 31201318, 31205003, 31221859, 31227724, 31251792, 31251978, 31259557, 31262295, 31268981, 31270372, 31296159, 31298435, 31300729, 31311920, 31321000, 31324722, 31327045, 31331863, 31332440, 31339488, 31341024, 31344409, 31344706, 31351782, 31383454, 31391319, 31401006, 31413336, 31416774, 31423445, 31428093, 31456498, 31473565, 31477092, 31494805, 31501051, 31507425, 31508974, 31530195, 31532390, 31551433, 31563560, 31570318, 31580490, 31581148, 31585024, 31590401, 31596601, 31604026, 31606405, 31626570, 31640630, 31645438, 31657788, 31658342, 31659727, 31659728, 31659730, 31661636, 31665830, 31674704, 31676345, 31678009, 31679154, 31679858, 31679946, 31680043, 31683989, 31692517, 31697873, 31698802, 31715086, 31715088, 31715091, 31728230, 31729878, 31732698, 31734115, 31734731, 31740403, 31749908, 31759907, 31776420, 31782915, 31784217, 31784874, 31787574, 31799301, 31803183, 31808782, 31813753, 31815786, 31839569, 31845523, 7494409, 7504271, 7504645, 7505692, 7505767, 7506096, 7510983, 7511023, 7512993, 7513291, 7513292, 7513695, 7514569, 7516305, 7517144, 7517189, 7517265, 7517653, 7517672, 7519885, 7521937, 7522211, 7524914, 7524915, 7525450, 7526932, 7527271, 7527588, 7529319, 7529962, 7530494, 7531792, 7532150, 7533605, 7533606, 7533607, 7533608, 7533609, 7534226, 7534353, 7535746, 7538376, 7539001, 7539210, 7540133, 7541273, 7541511, 7542031, 7542223, 7542778, 7543317, 7543385, 7544439, 7544788, 7544810, 7545869, 7548271, 7551394, 7553864, 7560099, 7584951, 7678008, 7678316, 7679117, 7680322, 7680525, 7680526, 7680769, 7681548, 7682196, 7682896, 7682954, 7683197, 7684640, 7684641, 7687986, 7689007, 7689009, 7689062, 7689896, 7691187, 7691344, 7691345, 7691415, 7693946, 7739684, 7914197, 7948134, 7948135, 8081388, 8117058, 8145780, 8163293, 8222279, 8473422, 8522333, 8527477, 8530001, 8535440, 8541845, 8590731, 8597960, 8617884, 8622979, 8662892, 8663008, 8671256, 8675672, 8707304, 8707306, 8707873, 8744024, 8747512, 8750017, 8755664, 8794344, 8796848, 8796909, 8800923, 8825494, 8844211, 8854094, 8865181, 8876538, 8886838, 8889582, 8908499, 8910333, 8918588, 8933333, 8956039, 8986438, 9023366, 9039981, 9100367, 9101293, 9130164, 9135733, 9135734, 9138152, 9147111, 9150159, 9150719, 9155717, 9156806, 9187372, 9191467, 9212168, 9239681, 9254853, 9254864, 9259194, 9261986, 9287144, 9294121, 9305991, 9363078, 9366560, 9375855, 9380706, 9401110, 9429141, 9439669, 9449379, 9472784, 9476862, 9482579, 9499426, 9507393, 9511927, 9511933, 9511934, 9521595, 9542966, 9551612, 9554753, 9565413, 9590360, 9614386, 9623690, 9649572, 9650098, 9654209, 9694152, 9725921, 9725922, 9727805, 9756374, 9759548, 9759549, 9761117, 9765431, 9781011, 9788722, 9799593, 9811935, 9856513, 9921909, 9922380, 9922383, 9972102		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic Fibrosis	UNIPROT_DG	10094564, 11242048, 12167682, 12394343, 12529365, 1284466, 1284468, 1284529, 1284530, 1284548, 1379210, 15528182, 15716351, 16822950, 1695717, 1699669, 17098864, 1710600, 1712898, 17182731, 20008117, 20150177, 20691141, 21884936, 2236053, 25330774, 26846474, 27241308, 28001373, 28067262, 28087700, 7504969, 7505694, 7513296, 7517264, 7520022, 7522211, 7524909, 7524913, 7525450, 7537150, 7541273, 7541510, 7543567, 7544319, 7581407, 7606851, 7680525, 7683628, 7683954, 8081395, 8406518, 8522333, 8723693, 8723695, 8800923, 8829633, 8910473, 8956039, 9101301, 9222768, 9375855, 9401006, 9443874, 9452048, 9452054, 9452073, 9482579, 9521595, 9554753, 9736778, 9804160, 9921909		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic Fibrosis	CLINVAR_DG	10103316, 10225950, 10341008, 10362539, 10388469, 10401194, 10425036, 10425081, 10439967, 10453741, 10515411, 10517260, 10562297, 10562541, 10653141, 10653145, 10719683, 10762539, 10764788, 10777364, 10777368, 10782933, 10794365, 10798368, 10834512, 10852925, 10875853, 10909845, 10922396, 10923036, 10925568, 10980579, 10993719, 11005149, 11069835, 11101688, 11137998, 11158459, 11168024, 11171377, 11180668, 11242048, 11278813, 11280952, 11379874, 11388756, 11427889, 11446424, 11448786, 11462247, 11471192, 11491162, 11491164, 11504857, 11668613, 11729110, 11737931, 11788090, 11810271, 11823443, 11883825, 11938353, 11938439, 12000363, 12007216, 12070264, 12089190, 12120234, 12133923, 12167682, 12172395, 12215837, 12357328, 12394343, 12394352, 12397022, 12439892, 12454843, 12521276, 12544470, 12651858, 12679372, 12752573, 12767731, 12815607, 12825076, 1283148, 1283149, 12833420, 12843337, 1284466, 1284477, 1284530, 1284531, 1284534, 1284538, 1284539, 1284541, 1284542, 1284639, 12865275, 12874665, 12919146, 12938099, 12940920, 12952861, 1370365, 1371265, 1373934, 1376016, 1376017, 1379210, 1379211, 1379413, 1380943, 1381146, 1381723, 1382316, 14623323, 14685937, 15008989, 15017334, 15025720, 15074370, 15084222, 15088804, 15121783, 15130785, 15141088, 15176679, 15181619, 15246977, 15287992, 15300780, 15333598, 15365999, 15371902, 15371903, 15371907, 15371908, 15463906, 15480987, 15482777, 15520400, 15638824, 15698945, 15698946, 15744829, 15758663, 15772171, 15776432, 15853950, 15858154, 15948195, 16020494, 16049310, 16051530, 16132229, 16137181, 16187186, 16189704, 16202790, 16240056, 16244288, 16263954, 16436643, 16436646, 16478680, 16488363, 16493442, 16596947, 16678503, 16778407, 16784904, 16801189, 16840743, 16931591, 1695717, 16963320, 16980811, 17003641, 17015492, 17035430, 17095337, 1709778, 1710600, 1712898, 17137500, 17206681, 1721624, 1722350, 1723056, 17235394, 17314234, 17329263, 17331079, 17413420, 17449517, 17481968, 17495464, 17539902, 17572159, 17594397, 17594398, 17662673, 17673962, 17716958, 17718859, 17825628, 17850636, 17968998, 18178635, 18195584, 18230692, 18306312, 18373402, 18449561, 18456578, 18467194, 18597042, 18687795, 18769034, 18782298, 18788470, 18955805, 1903761, 19092437, 19202204, 19236881, 19265749, 19318035, 19318346, 19359498, 19369536, 19406970, 1944451, 19447078, 19457724, 19540513, 19625452, 19652440, 19724303, 19734299, 19833837, 19893581, 19897426, 1990834, 19910674, 1998343, 20021716, 20031113, 20059485, 20100616, 20110398, 20144563, 20351101, 20381036, 20435887, 20448091, 20460946, 20510657, 20522854, 20616359, 20657600, 20659818, 20714932, 20797923, 20920895, 20932301, 20932506, 20949073, 21097845, 21184098, 21317048, 21416780, 21429822, 21474639, 21514289, 21520337, 21538969, 21679131, 21716075, 21779199, 21783433, 21796730, 21811577, 21909392, 21931512, 21983161, 22020151, 22043142, 2210768, 22138447, 22210114, 22293084, 22299590, 22311127, 22326559, 2236053, 22362925, 22395041, 22423042, 22438829, 22439019, 22442927, 22483971, 22490504, 22504961, 22608296, 22627569, 22658665, 22768251, 22859523, 22973227, 22975760, 23055971, 23065710, 23082198, 23089694, 23168765, 23276700, 23302613, 23381846, 23420618, 2344617, 23466340, 23670503, 23687349, 23727931, 23751316, 23810505, 23857699, 23883480, 23891399, 23924900, 23933162, 23951356, 23974870, 24019231, 24066763, 24129438, 24388274, 24434749, 24440181, 24440239, 24525081, 24559724, 24586523, 24633926, 24696795, 24697796, 2475911, 24784896, 24816901, 25024266, 25066652, 25087612, 25122143, 25192979, 25304080, 25308578, 25443471, 25492507, 25525159, 25569440, 25580864, 25583415, 25636364, 25674778, 2570460, 25735457, 25799511, 25824381, 25826586, 25869325, 25900089, 25910067, 25963003, 26014425, 26098992, 26146130, 26160248, 26208274, 26348465, 26471113, 26500004, 26574590, 26631874, 26651825, 26708955, 26826884, 26864378, 26990548, 27022295, 27049043, 27086061, 27131402, 27145507, 27171515, 27264265, 27717243, 27738188, 28544683, 28546993, 28603918, 28771972, 28957316, 29178639, 29497617, 29805046, 30046002, 30146269, 30726326, 7472820, 7477025, 7493947, 7504969, 7504970, 7505689, 7505693, 7506096, 7508414, 7509232, 7509683, 7512860, 7513293, 7515303, 7516234, 7516305, 7518409, 7520798, 7521710, 7521937, 7522211, 7522329, 7524913, 7525450, 7526927, 7527269, 7529962, 7530553, 7534040, 7534226, 7538127, 7539080, 7541274, 7541510, 7542778, 7543317, 7543385, 7544319, 7544320, 7544788, 7550243, 7551394, 7573058, 7581407, 7599637, 7606851, 7668304, 7680525, 7680769, 7682196, 7683628, 7683952, 7684644, 7684646, 7686577, 7689013, 7689898, 7691344, 7691345, 7691352, 7692051, 7739684, 7757078, 8213163, 8406518, 8477260, 8528204, 8535440, 8605891, 8662892, 8663008, 8680406, 8698344, 8702904, 8707304, 8707306, 8825927, 8844211, 8844213, 8910333, 8947061, 8956039, 8968585, 9003508, 9043501, 9067754, 9099843, 9101301, 9135274, 9150159, 9239681, 9254864, 9259194, 9259197, 9272157, 9298826, 9305991, 9379898, 9429141, 9435322, 9439669, 9443874, 9482579, 9499426, 9507391, 9521595, 9550361, 9557894, 9620832, 9683582, 9725922, 9736778, 9788722, 9806422, 9822639, 9853928, 9920885, 9950364, 9950763		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic fibrosis	Pubtator	10195071, 10325907, 10330420, 10437775, 10491455, 10498856, 10503604, 10545523, 10567629, 10652351, 10656877, 10657593, 10762539, 10817792, 10836331, 10853862, 10879737, 10993719, 11104661, 11113843, 11118444, 11147574, 11242048, 11309505, 11337375, 11341998, 11388756, 11397325, 11407896, 11491164, 11591888, 11717455, 11733566, 11756355, 11809765, 11872746, 11924117, 12070134, 12080183, 12095312, 12167682, 12231476, 12394343, 12506110, 12578973, 1281385, 1284540, 12865275, 1370301, 1370365, 1371114, 1372005, 1372253, 1372891, 1373934, 1375156, 1376016, 1376017, 1377276, 1379413, 1379414, 1381442, 1382222, 1384321, 14534336, 14632577, 14681029, 14685937, 14762183, 14993601, 15084222, 15287992, 15371903, 15371905, 15463893, 15463898, 15463906, 15463936, 15482777, 15489228, 15489534, 15528182, 15615854, 15618584, 15645646, 15647273, 15665983, 15698945, 15698946, 15703296, 15705796, 15716351, 15716623, 15738290, 15771606, 15858154, 15870673, 15905150, 15915083, 15956032, 15963954, 15964250, 15964894, 15987793, 15994263, 16049310, 16051530, 16203733, 16243854, 16266832, 16272798, 16275171, 16361706, 16399952, 16412743, 16426904, 16435054, 16436643, 16436646, 16464259, 16478680, 16481896, 16614352, 16621797, 16678395, 16690975, 16778407, 16778595, 16784904, 1682496, 16830219, 16837250, 16857349, 16870510, 16901789, 16920886, 16922501, 16923725, 16931591, 16963320, 16980811, 1698126, 16990428, 17018149, 17030173, 1705554, 1709778, 1711224, 17127107, 1713683, 1713921, 17158822, 1717947, 1718974, 1720926, 1721624, 17218617, 17242497, 17290305, 17314234, 17328035, 17339840, 17394637, 17413420, 17475917, 17481968, 17531547, 17541014, 17544945, 17572159, 1757966, 17603939, 17662673, 17685853, 17716958, 17761461, 17766193, 17823699, 17932045, 17951164, 17975025, 18022401, 18064359, 18178635, 18234567, 18243066, 18280224, 18344710, 18397707, 18424453, 18455968, 18467194, 18490773, 18499536, 18507830, 18535191, 18556774, 18628981, 18639722, 18769032, 18788728, 18796364, 18797695, 18815075, 18817817, 18832460, 18845244, 18938114, 18955805, 19017867, 19126627, 19144995, 19166122, 19277125, 19363120, 19399182, 19431193, 19436330, 19443567, 19457724, 19481507, 19490541, 19502387, 19603002, 19621064, 19625452, 19645745, 19652440, 19654104, 19662435, 19710401, 19724303, 19759008, 19774621, 19808659, 19837660, 19885835, 19897426, 1990834, 19909502, 19914443, 19954980, 20028935, 20031113, 20051989, 20052365, 20052366, 20089831, 20098842, 20147297, 20190016, 20347403, 20393308, 20504917, 20510657, 20512161, 20657600, 20667826, 20675369, 20687163, 20696241, 20706124, 20717170, 20797923, 20812883, 20837493, 20847077, 20861014, 20870018, 20875776, 20880762, 20927127, 20932301, 20949073, 20950468, 20952391, 20952496, 21036675, 21083385, 21097845, 21220929, 21228336, 21233271, 21263071, 21282106, 21296036, 21317048, 21329479, 21383017, 21388895, 21407263, 21429822, 21496124, 21507732, 21544602, 21548936, 21602569, 21642448, 21658649, 21708986, 21727111, 21731057, 21753184, 21779199, 21783433, 21811577, 21825083, 21826241, 21852204, 21873556, 21909392, 21917531, 21976147, 21976485, 21983161, 21983488, 21996038, 21998193, 22020151, 22034590, 22047557, 22119790, 22137130, 22148899, 22209734, 22281182, 22302635, 22312017, 22315512, 22326559, 22383668, 22384920, 22395041, 22396015, 22407040, 22430190, 22442149, 22466961, 22468138, 22496330, 22505710, 22573477, 22591852, 22627569, 22675668, 22675793, 22768130, 22821996, 22842702, 22860029, 22879944, 22892532, 22950544, 22960984, 22964850, 22973054, 22992393, 22998936, 23071149, 23073314, 23082198, 23089694, 23104983, 23144343, 23164641, 23209179, 23261175, 23316065, 23316740, 23343370, 23361109, 23401342, 23457168, 23470247, 23483918, 23504457, 23537407, 23555973, 23572023, 23587593, 23590265, 23613805, 23628510, 23632450, 23656801, 23670503, 23671668, 23688510, 23732645, 23757359, 23758905, 23810505, 23857699, 23865422, 23896725, 23922647, 23924900, 23933162, 23949358, 23952705, 23974870, 23977124, 24098711, 24105369, 24129438, 24204751, 24225052, 24274930, 24277965, 24310628, 24357848, 24440181, 24520399, 24535988, 24550193, 24586461, 24586495, 24593045, 24598717, 24621136, 24623386, 24669817, 24733844, 24796242, 24818864, 24829907, 24859760, 24894806, 24925916, 24927234, 24934256, 24945658, 25033378, 25042876, 25049054, 25066652, 25083918, 25101886, 25101887, 25120007, 25122143, 25169789, 25176415, 25178872, 25191759, 25208115, 25268501, 25300456, 25304080, 25363320, 25384981, 25386751, 25425629, 25443471, 25452003, 25453871, 25479583, 25481366, 25489051, 25503271, 25557623, 25569440, 25583415, 25592785, 25631877, 25636364, 25660278, 25661196, 25667564, 25674778, 25688174, 25698453, 25714715, 25735457, 25758640, 25769931, 25772471, 25822311, 25824995, 25853698, 25880441, 25910067, 25956447, 25981758, 25993078, 26006199, 26014425, 26018799, 26047640, 26070913, 26075213, 26087176, 26092729, 26115671, 26133785, 26135562, 26137539, 26149841, 26168933, 26169010, 26208274, 26227551, 26255232, 26258862, 26361332, 26415724, 26436368, 26444971, 26474553, 26492939, 26493493, 26494713, 26545902, 26547591, 26561302, 26615198, 26618866, 26627831, 26637637, 26671754, 26677762, 26694805, 26701908, 26708955, 26741366, 26795017, 26800689, 26803277, 26847993, 26861665, 26874684, 26900683, 26948992, 26971626, 26996268, 27017198, 27049043, 27092946, 27097977, 27103391, 27117206, 27148940, 27157324, 27160424, 27168400, 27214033, 27214204, 27234323, 27258095, 27261451, 27278076, 27284727, 27286825, 27298017, 27298019, 27402691, 27434588, 27447098, 27471203, 27488005, 27491544, 27526025, 27659740, 27707539, 27717243, 27738188, 27897275, 27898234, 27996019, 28040480, 28122919, 28129810, 28129811, 28132845, 28158236, 28171547, 28190780, 28196530, 28209466, 28242698, 28287550, 28289476, 28360110, 28392015, 28471435, 28475858, 28478266, 28545452, 28549169, 28575328, 28606620, 28651844, 28655774, 28667089, 28698463, 28711222, 28712885, 28719800, 28736296, 28746534, 28751295, 28784578, 28785019, 28794469, 28800122, 28846703, 28855508, 28863137, 28898585, 28902888, 28925369, 28978522, 29042177, 29079142, 29079751, 29099333, 29099344, 29115094, 29126871, 29140739, 29145426, 29146575, 29168366, 29177135, 29178639, 29202459, 29232160, 29255267, 29279204, 29282053, 29298718, 29333001, 29351441, 29360847, 29415893, 29415993, 29451946, 29467332, 29503157, 29504914, 29544685, 29573703, 29589582, 29661510, 29732561, 29782810, 29807875, 29886024, 29954133, 29986884, 29995784, 29997283, 30030066, 30033373, 30046002, 30089827, 30130412, 30133731, 30146269, 30168731, 30177416, 30185452, 30201329, 30268148, 30272672, 30279124, 30279125, 30296588, 30297908, 30334692, 30334693, 30341603, 30348611, 30361244, 30366849, 30374031, 30384810, 30389601, 30459435, 30467074, 30472785, 30485852, 30521551, 30540818, 30546102, 30563749, 30568035, 30573241, 30577776, 30580531, 30595473, 30598261, 30600261, 30606298, 30621834, 30626802, 30641980, 30659068, 30670178, 30716472, 30726326, 30738802, 30753450, 30760291, 30803355, 30811104, 30888834, 30898088, 30898172, 30964354, 30975115, 30985981, 30992452, 30995102, 30996306, 31014000, 31048413, 31107611, 31118044, 31118097, 31126253, 31126900, 31147302, 31182369, 31187952, 31199594, 31201318, 31221859, 31245908, 31296159, 31311920, 31344706, 31383454, 31391319, 31391465, 31428093, 31456498, 31474496, 31501480, 31508974, 31532390, 31551433, 31561038, 31593572, 31606405, 31658342, 31665830, 31678009, 31678015, 31679946, 31683989, 31697830, 31697873, 31719577, 31734731, 31740403, 31759907, 31776420, 31784217, 31813753, 31828483, 31842871, 31845523, 31872980, 31882543, 31902692, 31913291, 31924806, 31978131, 31990467, 31992345, 31999897, 32026723, 32059764, 32061518, 32067958, 32079513, 32092967, 32103733, 32118580, 32183316, 32220772, 32243806, 32244302, 32265339, 32282124, 32296164, 32317365, 32327388, 32357917, 32377875, 32398304, 32402246, 32404922, 32429104, 32437238, 32454915, 32457197, 32471772, 32483343, 32485957, 32499204, 32505523, 32512832, 32520327, 32537652, 32539862, 32540817, 32546431, 32586736, 32586737, 32596391, 32599772, 32616918, 32630527, 32630830, 32640650, 32644818, 32666337, 32668165, 32673287, 32673457, 32674984, 32684439, 32734384, 32747394, 32773111, 32819855, 32843167, 32846335, 32853178, 32855222, 32873524, 32899265, 32905759, 32917547, 32927759, 32930103, 32933106, 32937756, 32948498, 32967385, 32967799, 33016182, 33020115, 33031374, 33036232, 33050003, 33085659, 33095038, 33106471, 33138251, 33160331, 33165217, 33175893, 33184117, 33249003, 33249004, 33258950, 33303536, 33309058, 33314931, 33321047, 33339768, 33341408, 33357513, 33390317, 33393655, 33407736, 33441643, 33465316, 33468668, 33470563, 33482299, 33495079, 33500570, 33506726, 33532041, 33549519, 33558100, 33572515, 33589413, 33607467, 33613790, 33652850, 33674211, 33684631, 33713579, 33720715, 33734030, 33737583, 33775603, 33789612, 33794364, 33802742, 33805605, 33807078, 33807548, 33807880, 33814322, 33879218, 33919435, 33920274, 33934548, 33946859, 33958799, 34025651, 34037494, 34049825, 34067708, 34071719, 34086412, 34103250, 34130909, 34172469, 34196078, 34226157, 34253193, 34289939, 34299207, 34330959, 34348870, 34404863, 34411298, 34413153, 34419414, 34437784, 34440351, 34440900, 34454846, 34514718, 34520545, 34531155, 34556554, 34598881, 34600583, 34620573, 34644413, 34666947, 34673344, 34678210, 34680050, 34680949, 34740355, 34749804, 34755701, 34761808, 34764021, 34769402, 34782259, 34782688, 34799298, 34857524, 34860163, 34870594, 34877817, 34884866, 34901273, 34903059, 34934215, 34949556, 34967155, 34972649, 35017301, 35017302, 35020527, 35060604, 35062937, 35063397, 35065958, 35086832, 35091309, 35110005, 35115637, 35131845, 35134493, 35170259, 35181269, 35190292, 35248469, 35273129, 35292885, 35297329, 35302062, 35312728, 35313924, 35315358, 35315363, 35327663, 35328596, 35348309, 35365085, 35389766, 35412656, 35440409, 35446787, 35451201, 35462606, 35468710, 35471184, 35487895, 35523714, 35525974, 35527187, 35563895, 35613999, 35624092, 35627274, 35667973, 35690578, 35698092, 35718668, 35739107, 35741067, 35748162, 35752560, 35764510, 35771568, 35775757, 35803883, 35816621, 35843019, 35851858, 35857025, 35871973, 35886548, 35915048, 35916466, 35922154, 35927224, 35954202, 35995803, 36006942, 36008229, 36012615, 36045259, 36048831, 36067639, 36068724, 36077010, 36102402, 36142302, 36154176, 36167862, 36193559, 36207030, 36207272, 36216744, 36232697, 36232826, 36237137, 36253274, 36264792, 36266606, 36279907, 36293130, 36293229, 36293293, 36293514, 36369753, 36372699, 36380568, 36410419, 36449298, 36455959, 36499495, 36535667, 36543707, 36555865, 36568105, 36577595, 36581485, 36583901, 36609925, 36627352, 36635199, 36669960, 36674762, 36738326, 36739240, 36742335, 36828084, 36834620, 36835664, 36842446, 36849331, 36883844, 36899912, 36914434, 36916675, 36943405, 36963986, 36976651, 36982273, 37019688, 37024122, 37027571, 37043485, 37047318, 37087300, 37100706, 37130650, 37147251, 37154609, 37165082, 37175472, 37175647, 37190083, 37194817, 37235648, 37253358, 37276039, 37298560, 37318849, 37321310, 37371529, 37373505, 37379072, 37407341, 37414422, 37419691, 37437308, 37440686, 37446121, 37491532, 37503734, 37510311, 37558402, 37569738, 37579743, 37628659, 37629017, 37649273, 37651229, 37671451, 37674160, 37690692, 37696564, 37704465, 37711888, 37716455, 37761847, 37761921, 37777263, 37833986, 37865062, 37895316, 37918963, 37923102, 37945033, 37951788, 37967223, 37998353, 38003474, 38019847, 38042631, 38229125, 38247876, 38254935, 38257346, 38259174, 38271453, 38360461, 38363865, 38426679, 38442240, 38508949, 38580140, 38580563, 38607242, 39296431, 39339703, 39342081, 39457459, 39567905, 39756424, 39756425, 39793274, 39806674, 39836014, 39919950, 39929713, 39979195, 40047648, 40054708, 40084730, 40332394, 40362587, 40363673, 40428425, 40429633, 40454714, 40531731, 7504691, 7508934, 7509347, 7511554, 7512993, 7513949, 7518829, 7521937, 7525963, 7526685, 7529319, 7533790, 7534040, 7534353, 7539891, 7541313, 7544439, 7544810, 7545672, 7553863, 7559642, 7678008, 7679117, 7680525, 7680526, 7693946, 7739684, 8013599, 8064813, 8132771, 8166795, 8617884, 8663008, 8697849, 8755664, 8825927, 8863168, 8880589, 8886242, 8933333, 8947061, 8981951, 9039981, 9138152, 9150159, 9187372, 9294121, 9311495, 9366560, 9380706, 9408048, 9429141, 9591500, 9719631, 9725921, 9725922, 9727805, 9736040, 9758600, 9950364, 9989241	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic Fibrosis	CTD_human_DG	11401894, 11786964, 16463024, 16763370, 1718974, 17290305, 17347447, 17541014, 18230692, 19309154, 19846789, 21083385, 21303308, 21602569, 7560099		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic Fibrosis	LHGDN	11845300, 11872746, 11956211, 11984593, 12151438, 12220181, 12427743, 12485421, 12660625, 12732620, 12820707, 12839834, 12919146, 14685937, 14699484, 14966131, 15024729, 15025720, 15070876, 15463893, 15533353, 15537723, 15611333, 15638824, 15684701, 15716351, 15738290, 15776432, 15781764, 16014420, 16137181, 16203733, 16275171, 16281647, 16361259, 16436643, 16481891, 16596947, 16621797, 16715841, 16764792, 16778407, 16920886, 16938751, 17003555, 17212919, 17242497, 17392477, 17475917, 17481968, 17519339, 17531547, 17572159, 17603939, 17627383, 17632788, 17654517, 17877132, 17911111, 17985657, 18076731, 18306312, 18344710, 18359885, 18430055, 18600482, 18625144, 18703788, 18773956, 18779379, 18782298, 18788470, 18810634, 18955805, 18973672, 19092444, 19106752, 19166122		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic fibrosis	Pubtator	16923725, 18778196, 21826241, 22007674, 23483918, 25981758, 27034411, 28847515, 31803183, 32098269, 36841738	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic Fibrosis	ORPHANET_DG	22214395		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic fibrosis	Cystic Fibrosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystic Fibrosis	Cystic Fibrosis	GENOMICS_ENGLAND_DG	22427236, 9934970		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of prolidase	Deficiency Of Prolidase	BEFREE	17517257		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33868246	Associate	★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	BEFREE	22384920		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12779072, 18535191, 18851900, 19126627, 25479583, 26283735, 27033560, 27709245, 28977595, 29669939		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12779072, 18535191, 18851900, 19126627, 20332619, 25479583, 26283735, 27033560, 27709245, 28977595, 29669939, 30269055		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18535191, 19126627, 21496124, 23952705, 25583415, 29504914, 31462537, 7539891, 8166795	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34012112	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23721890		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15489534		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	20952391, 34797252	Associate	★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	BEFREE	12952861, 8992448		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	28099811, 28873176		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	28099811, 28873176, 29305607		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	30119655		★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	21750546		★☆☆☆☆ Found in Text Mining only
Echogenic Bowel	Echogenic Bowel	BEFREE	10576193, 16378323, 17975025		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	28287550, 29544685, 31735562, 33434105, 34666947, 35086832, 35110005, 35690578, 37833986	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28225751		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28225751	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28978008		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	31987762	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	36371157	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30606785		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28533270		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30358020		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30358020		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	36842446	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	11589722, 12052305, 12124743, 12651880, 12677168, 1376016, 15772171, 16144754, 1719773, 18493878, 18506640, 20052365, 22658665, 25479583, 26087176, 26096753, 26160248, 28888897, 29215541, 29635781, 31066218, 31296159, 31611131, 8863168, 9725922		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrocystic Disease of Pancreas	Cystic fibrosis of pancreas	CTD_human_DG	11401894, 11786964, 16463024, 16763370, 1718974, 17290305, 17347447, 17541014, 18230692, 19309154, 19846789, 21083385, 21303308, 21602569, 7560099		★☆☆☆☆ Found in Text Mining only
Fibrocystic Disease of Pancreas	Cystic fibrosis of pancreas	BEFREE	15956032, 17654517, 30618777		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	LHGDN	17446304		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	17848139, 32540817, 34934215	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	21411740		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	18815075	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	25245091		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	1379356		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	33020115	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30573361		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30573361		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	38426679	Associate	★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	29204121		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	1384321	Associate	★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	35816621, 36842446	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22835809, 27585394, 29467332, 32059764, 34489188, 35315363	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	15893109		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	9380706	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	15893109		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	22362925		★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoid	Pubtator	37932969	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	15705621		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	10441486		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30568028		★☆☆☆☆ Found in Text Mining only
Hereditary chronic pancreatitis	Hereditary Pancreatitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	10653140, 10909845, 20502448		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	CLINVAR_DG	20977904		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	GENOMICS_ENGLAND_DG	22427236, 9934970		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	ORPHANET_DG	22572128		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Pancreatitis	Pubtator	22572128, 24655839, 37603299, 39896151	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	14555664		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32457197	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	29204121		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	26436368	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	18076731		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29415998		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	18076731, 20625975		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	7544810	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	37629017	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	35387941	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28533270		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34901273	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	17572159, 20952391, 25217870, 32757986, 34755701, 35115637, 9725922	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	11309505, 11756355, 14685937, 14993601, 16272798, 18755906, 20532200, 22483971, 25033378, 25443471, 29079751, 29779145, 29986553, 30389601, 32757986, 34145097, 34190021, 37489040, 37895049, 38254935, 39356031, 9725922	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12783301, 17206681, 30238759		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	12783301		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30238759	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26547591	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	26751771, 28192405		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	10330420, 21917531, 26261085, 29915289, 30874543		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	16478680	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	17030173, 28384265, 29924856		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal obstruction	Pubtator	17030173, 32948498, 8166795	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	17272866		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	LHGDN	17272866		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	10024598, 18326723		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12297060, 28701694		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32927759	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	29451946, 38426679	Associate	★☆☆☆☆ Found in Text Mining only
Lactose Intolerance, Adult Type	Lactose Intolerance	BEFREE	21407263		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	15133308	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12842835, 37932969	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28235656		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28445932	Associate	★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	10318798, 12548398		★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle syndrome	Pubtator	34037494	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	33097431	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10441486, 15526362, 15668502, 19384946		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24502094	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26436368, 32948498, 34454846, 36739240	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	10325907, 10401194, 10773783, 10872417, 10958769, 11069835, 11737931, 12001283, 12052305, 12397022, 12475759, 12651880, 12677168, 12940920, 14555458, 14760158, 15004288, 15151509, 15181619, 15454960, 15852339, 16025767, 16207846, 16266832, 16426904, 16678503, 16883063, 17033796, 17053491, 1713908, 17443603, 17584036, 18424453, 18563170, 19431193, 19443536, 19462466, 19603002, 20028935, 20100616, 20423679, 20597081, 20720307, 20799947, 20932301, 21411740, 21422098, 21547723, 21875427, 21998660, 22088968, 22492740, 22697346, 23076917, 23082198, 23483918, 23514810, 23617438, 24282073, 24479826, 24894806, 24925916, 25453871, 25698453, 25940043, 26469863, 27033560, 27209008, 27314455, 28122178, 28171547, 28222269, 28325531, 28377087, 28481660, 28620056, 28730885, 29126871, 29132121, 29264936, 29327941, 29743276, 29750923, 29877096, 30384810, 31031161, 31140758, 31416774, 31481727, 31570318, 31590401, 7510983, 7521937, 7542778, 7792437, 7948134, 8825494, 8947061, 8981951, 9023366, 9101293, 9135733, 9135734, 9272738, 9363078, 9363079, 9551612, 9725922, 9781011, 9799593, 9921909, 9922383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	10503604, 10836331, 1381442, 14760158, 15698945, 15994263, 16207846, 16266832, 16275171, 16426904, 16614352, 16678395, 17218617, 18424453, 19431193, 22395041, 22768130, 23082198, 23483918, 24225052, 24277965, 25176415, 25453871, 25698453, 25797027, 28289476, 28777004, 29126871, 30272672, 30573241, 30577776, 31842871, 32846335, 34440351, 34673344, 36820745, 36828084, 36921087, 37945033, 38442240, 7521937, 7539891, 8166795, 8981951, 9374552	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	LHGDN	16266832, 16678503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Obstructive	Lung Diseases	BEFREE	22533779, 22664493, 23483918, 31659732, 31715088		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20116881, 32398304	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	8590731		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35641986	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	22366595		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23640294	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	18441018, 19808659, 20739752, 25677689, 26183966, 27709245, 28576637		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndromes	Malabsorption syndrome	Pubtator	16053460	Stimulate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndromes	Malabsorption syndrome	Pubtator	19808659, 33390317	Associate	★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	26328275, 31721358, 8616723, 9761117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30358020		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	26751771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11322483, 20116881, 21585618, 30384810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	14576497, 14688470, 17072959, 19885835, 23721890, 23751316, 25003218, 30134356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17761461, 22797075, 28592122, 30485539		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22773549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22529986		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22366595, 22797075, 23640294, 24373847, 26687480, 27709245, 27769067, 28235656, 28468577, 29411041, 29799800, 30358020, 30384810, 30704755		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22366595, 23640294		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24373847		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	15367921, 20955961, 21059918, 21727111, 28102546, 29115094		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	18703181, 29115094	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	8616723, 9761117		★☆☆☆☆ Found in Text Mining only
Meconium ileus	Meconium ileus	BEFREE	10526657, 19774621, 20179644, 20739752, 23676501, 26087176, 30058245		★☆☆☆☆ Found in Text Mining only
Meconium ileus	Meconium ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19914443, 23810505, 24535988, 26671754, 28129811, 31990467, 33883100, 36237137	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19914443, 21538969, 23810505, 24535988, 27131402, 27447098, 31640630, 31679154		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	34974990	Associate	★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	27229121		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	28407399	Associate	★☆☆☆☆ Found in Text Mining only
Mineralocorticoid Excess Syndrome, Apparent	Mineralocorticoid Excess Syndrome	BEFREE	30760291		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	24559724		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29954133	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	10437775		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	37651229	Associate	★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	9380706		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	9380706		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	35627274	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	35916466	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29890394, 30005381		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31196606		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	10392242, 10503135, 15004288, 15361357, 24633926, 8755664		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	LHGDN	15361357		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	15361357	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	7504691, 8755664, 9366560	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	27769067		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	27769067	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12163390, 12397014, 1281791, 15526362, 16799633, 22366595, 22797075, 26751771, 27769067, 28192405, 28978008, 29246444, 29900672, 30358020, 30384810, 30485539, 31636470, 9761117		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29613853		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	25386751, 28456595		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18445659, 19082471, 21585618		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	29872374, 30174583		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31727452		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39339703	Associate	★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	10376575, 10755189, 10856487, 11471192, 12422349, 12919133, 14998948, 17572159, 21762191, 21976147, 22103471, 22729088, 23953609, 25010724, 25386751, 30797621, 31357024, 31845523, 9620832, 9755815		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oligospermia	Oligospermia	BEFREE	10341008, 10601093, 11466205, 14998938, 18616886, 20021716, 21679131, 25386751, 31672438, 31820482, 9591500, 9620832		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	35915048	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	20005786		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30843951	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	15126740		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	18164141		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31540229, 37175647	Associate	★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	31328366		★☆☆☆☆ Found in Text Mining only
Pancreas divisum	Pancreas divisum	BEFREE	17575549, 19593166, 22158025, 22306946, 22885947, 23416327		★☆☆☆☆ Found in Text Mining only
Pancreas divisum	Pancreas divisum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	14576497, 14688470, 17072959, 19885835, 23721890, 23751316, 25003218, 30134356, 7534234		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	14688470		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	12952861, 14576497, 18487356, 19885835, 31640630, 9150159		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	LHGDN	12952861, 15645646		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	19885835, 24550193, 35623009, 7504691, 7539891	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21809164		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11115825, 17072959, 19885835, 29550476, 32113160, 36008229, 36717774, 7508934	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Pseudocyst	Pancreatic Pseudocyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	10836331, 12865275, 1376016, 15987793, 16478680, 18455968, 19774621, 20080093, 20950468, 20977904, 21097845, 21658649, 22020151, 22306946, 22572128, 23143602, 23951356, 24225052, 24413785, 25033378, 25631877, 25636364, 26100556, 26627831, 27171515, 27578509, 28196530, 28392015, 29298718, 29995784, 31088717, 31296159, 31561038, 32447501, 32948498, 34974990, 35387941, 35623009, 35976273, 37047318, 37823318, 38493004, 39172977, 7504691, 8166795, 8933333, 9719631, 9725922	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis	Pancreatitis	BEFREE	11462247, 12779072, 12940920, 14688470, 15233679, 15238770, 15528020, 15749233, 15772171, 15775704, 15987793, 16193325, 16954950, 17003641, 17090903, 17575549, 17943404, 17981921, 18076731, 20332619, 20460946, 20502448, 20625975, 20977904, 21809164, 22158025, 22306946, 22658665, 23143602, 23751316, 24451227, 25003218, 25033378, 25447846, 25492507, 26856995, 27086061, 28634110, 30050452, 31091219, 31268981, 31611131, 9725922		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis	Pancreatitis	LHGDN	11462247, 15775704, 16764792, 17003641, 17489851, 17575549, 17943404, 18360295, 19106752		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis	Pancreatitis	CTD_human_DG	18360295, 23143602		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis	Pancreatitis	Pubtator	36008229	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis	Pancreatitis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis	Pancreatitis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancreatitis Chronic	Pancreatitis	Pubtator	11115825, 12705799, 15645646, 15987793, 18687795, 19383231, 20977904, 23951356, 24616641, 25636364, 25835118, 27171515, 30420730, 31088717, 32352720, 32669225, 33097431, 34974990, 35212296, 35974416, 35976273, 37389024, 38334943, 40428425, 9725921, 9725922	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	10668931, 11117575, 11355022, 11916201, 11938439, 12079272, 12939655, 14688470, 15084988, 15097853, 15567996, 15775704, 16187186, 16379540, 17489851, 17539902, 17943404, 18360295, 18953248, 19077469, 19383231, 19453252, 19812525, 19844201, 20846557, 20977904, 21520337, 21673536, 22109105, 22427236, 24440239, 25003218, 25447846, 25492507, 25636364, 26089335, 26364555, 28780053, 29206667, 30420730, 31088717, 31268981, 31296159, 9725921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	LHGDN	14526128, 15097853, 16163053, 17539902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	CTD_human_DG	18206817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	31501480	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	15482777	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	21809164		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	35748162	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	20050827		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	20050827		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	12349828		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	31488014, 35627274	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	16787252, 18988797, 23331030, 27704174, 30606785, 31570523, 8807590, 9261986		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	11095651, 12355171, 17048214, 23331030, 27165822, 29875161, 31488014, 8807590, 9856513		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	12355171		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25646509, 29204121, 30964354		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30964354	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32054355	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28445932		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31541940		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12783301		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	15126740, 17272866, 31610925		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	12127423, 12612912, 12783301, 15784035, 16540796, 17719933, 18992954, 29807875, 31165788, 8617131		★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	26879107		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17761461, 22797075, 28592122, 30485539		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17761461		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17761461, 40641097	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	24961912		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	19669005	Associate	★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	31328366		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOALDOSTERONISM, TYPE IID	Pseudohypoaldosteronism	BEFREE	17194447		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	17652219		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28533270		★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	10602380, 11934265, 17053491, 19092437, 19614608, 27732613, 28208047, 28222269, 7545239		★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	CTD_human_DG	11401894, 11786964, 16463024, 16763370, 1718974, 17290305, 17347447, 17541014, 18230692, 19309154, 19846789, 21083385, 21303308, 21602569, 7560099		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	15463907, 15771606, 22768130, 22950544, 22973054, 23538783, 24755862, 24925916, 25329998, 26627831, 27585394, 31541117, 31604026, 31813753, 36768629	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24957904	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	14555664	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21135173, 27561233, 28006950, 31477092, 9921909		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22697347		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	BEFREE	15775704, 17489851, 18360295, 21673536, 31268981, 31296159		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent pancreatitis	Pancreatitis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent pancreatitis	Pancreatitis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	11119745, 22340520		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28701694		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	28983075, 29750581, 7533607		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27596159, 28439270, 29664060		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	21329791, 22832190, 30573241, 31494805		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	10330420, 21917531, 22973054, 26137539, 7504691	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	28983075, 7533607		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	12506110, 14681029, 16426904, 29789655, 34903059, 35315363, 35563895, 36094193, 36976651	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10445602, 21131649		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	CTD_human_DG	16083808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis Allergic	Rhinitis	Pubtator	33868246	Inhibit	★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	30726326	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	29351619, 32155735, 39769077	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	10980579, 12404105, 20722470, 9921909		★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Seckel syndrome	Pubtator	1384321	Associate	★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	15870673		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	10445602, 25033378, 25363320, 32948498, 34289939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinusitis	Sinusitis	BEFREE	10503135, 15126740, 25363320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinusitis	Sinusitis	CTD_human_DG	16083808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs inversus	Pubtator	12142464	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36476557	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	12009340	Associate	★☆☆☆☆ Found in Text Mining only
Sphincter of Oddi Dyskinesia	Sphincter of Oddi Dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Splanchnic vein thrombosis	Splanchnic vein thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21585618, 31241180		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31894857	Associate	★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	31403270	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	16857845		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22773549		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29662080, 31852133	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	11788091, 20381036		★☆☆☆☆ Found in Text Mining only
Substance Withdrawal Syndrome	Substance abuse	Pubtator	29079142	Associate	★☆☆☆☆ Found in Text Mining only
Surfactant Dysfunction	Pulmonary surfactant metabolism dysfunction	Pubtator	31210424	Associate	★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	22709980		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28575328	Associate	★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	20551465		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26261085		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22529986, 29854012	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23640294	Associate	★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	17127107	Associate	★☆☆☆☆ Found in Text Mining only