COL1A1 (collagen type I alpha 1 chain)

Gene

• Entrez ID: 1277
• Gene name: Collagen type I alpha 1 chain
• Gene symbol: COL1A1
• Synonyms (NCBI Gene): CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800211	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs1800214	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs2586486	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs8179178	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs34940368	G>A,C	Likely-benign, pathogenic, benign	Synonymous variant, missense variant, coding sequence variant
rs56302025	TTTTTTTTT>-,TTT,TTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGATTTTTTTTTTTTTTTTTTTTTTTTT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant
rs66490707	C>G,T	Pathogenic	Intron variant, splice donor variant
rs66523073	C>T	Pathogenic	Missense variant, coding sequence variant
rs66527965	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs66555264	C>A,G,T	Pathogenic	Intron variant, splice donor variant
rs66664580	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs66721653	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs66929517	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs67163049	C>A,G,T	Pathogenic	Splice acceptor variant
rs67364703	C>G,T	Pathogenic	Splice donor variant
rs67368147	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67394386	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67416837	C>G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs67445413	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67507747	C>A,G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs67543897	C>G,T	Pathogenic	Splice acceptor variant
rs67682641	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs67693970	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs67771061	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs67815019	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67828806	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs67879854	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72645315	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72645317	C>A	Pathogenic	Missense variant, coding sequence variant
rs72645318	G>A	Pathogenic	Stop gained, coding sequence variant
rs72645320	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645321	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645323	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645328	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs72645331	C>A	Pathogenic	Missense variant, coding sequence variant
rs72645332	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs72645333	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645334	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645337	C>G	Pathogenic	Missense variant, coding sequence variant
rs72645341	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs72645347	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72645350	C>T	Pathogenic	Intron variant
rs72645352	C>G,T	Pathogenic	Intron variant, splice acceptor variant
rs72645353	C>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72645356	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645357	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645361	C>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs72645365	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645366	G>A,C	Pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs72645367	C>G,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72645368	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645369	G>-,GG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72645370	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72648313	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648316	TTAC>-	Likely-pathogenic	Intron variant, splice donor variant
rs72648319	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648320	C>T	Pathogenic	Intron variant, splice donor variant
rs72648321	C>A,G,T	Pathogenic	Intron variant, splice acceptor variant
rs72648322	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648325	C>G,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72648326	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs72648330	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648333	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648337	C>G,T	Pathogenic	Intron variant
rs72648339	C>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72648343	G>A,T	Pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant
rs72648346	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72648352	C>A,G,T	Likely-pathogenic, pathogenic	Intron variant, splice acceptor variant
rs72648356	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648357	C>G,T	Pathogenic	Intron variant, splice donor variant
rs72648363	C>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72651614	G>A,C	Pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs72651618	GCC>-	Pathogenic	Intron variant, inframe indel, coding sequence variant
rs72651620	GGGG>-,GGG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72651622	C>G,T	Pathogenic	Intron variant, splice donor variant
rs72651634	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72651635	A>C	Pathogenic	Splice donor variant
rs72651640	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72651642	G>A	Pathogenic	Stop gained, coding sequence variant
rs72651644	A>C,T	Pathogenic	Splice donor variant
rs72651645	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651646	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651647	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651651	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72651653	C>A	Pathogenic	Missense variant, coding sequence variant
rs72651657	C>A	Pathogenic	Missense variant, coding sequence variant
rs72651658	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651661	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651667	C>G,T	Pathogenic	Splice acceptor variant
rs72653131	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653133	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72653136	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653137	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653140	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72653143	C>A	Pathogenic	Missense variant, coding sequence variant
rs72653147	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, synonymous variant
rs72653150	C>G,T	Pathogenic	Splice donor variant
rs72653151	G>-,GG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72653152	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72653154	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72653155	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72653156	C>T	Pathogenic	Intron variant, splice donor variant
rs72653166	C>A	Pathogenic	Missense variant, coding sequence variant
rs72653168	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs72653169	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653170	G>A	Pathogenic	Missense variant, coding sequence variant
rs72653171	T>A,C	Pathogenic	Splice acceptor variant
rs72653172	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653173	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs72653177	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72653178	C>T	Pathogenic	Missense variant, coding sequence variant
rs72654794	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72654797	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72654799	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs72654802	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656303	C>A	Pathogenic	Missense variant, coding sequence variant
rs72656306	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656314	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs72656321	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656324	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656326	C>T	Pathogenic	Splice donor variant
rs72656330	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656331	C>A	Pathogenic	Missense variant, coding sequence variant
rs72656332	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656337	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72656338	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656340	T>C	Pathogenic	Missense variant, coding sequence variant
rs72656343	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs72656352	GAATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs72656353	A>G	Pathogenic	Missense variant, coding sequence variant
rs72667012	A>G	Pathogenic	Splice donor variant
rs72667014	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs72667016	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs72667019	T>A,C	Pathogenic	Splice acceptor variant
rs72667020	C>A,G,T	Pathogenic	Splice acceptor variant
rs72667022	C>T	Pathogenic	Missense variant, coding sequence variant
rs72667023	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs72667029	C>A	Pathogenic	Missense variant, coding sequence variant
rs72667031	C>A	Pathogenic	Missense variant, coding sequence variant
rs72667036	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs72667037	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs74315111	AGCACCAGG>-,AGCACCAGGAGCACCAGG	Pathogenic	Inframe deletion, inframe insertion, coding sequence variant
rs111594467	C>A,T	Pathogenic	Splice acceptor variant, intron variant
rs111953130	C>G,T	Pathogenic	Splice donor variant
rs113950465	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs115997082	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs138570309	C>A,T	Pathogenic	Missense variant, coding sequence variant, intron variant, stop gained
rs139593707	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs139955975	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs141011435	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs144751329	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs147936946	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150572711	G>-,GG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922137	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922138	G>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922139	C>T	Likely-pathogenic	Intron variant
rs193922140	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922141	T>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922143	A>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922144	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs193922145	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs193922147	C>A,G	Likely-pathogenic	Splice acceptor variant
rs193922148	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922149	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs193922150	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922151	A>-	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922152	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922153	G>A	Uncertain-significance, likely-benign, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922154	CT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs193922155	T>C	Likely-pathogenic	Splice acceptor variant
rs193922157	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs193922158	T>C	Likely-pathogenic	Splice acceptor variant
rs200319927	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200620805	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201136122	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs370865189	G>A,C,T	Benign, pathogenic, uncertain-significance, likely-benign	Intron variant
rs373041336	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377123276	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397514672	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122835	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs753683126	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs754555549	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs759665341	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs762428889	G>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, intron variant
rs762780039	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs762979302	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs765659555	C>T	Pathogenic	Coding sequence variant, missense variant
rs786205504	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs786205505	A>C	Likely-pathogenic	Intron variant
rs786205506	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205507	A>G,T	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs794726873	G>A	Pathogenic	Coding sequence variant, stop gained
rs794727319	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs794727394	A>C	Pathogenic	Intron variant, splice donor variant
rs797045033	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs865999256	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs867628651	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs868166455	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853274	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039693	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039726	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs886039880	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs886041552	G>T	Pathogenic	Coding sequence variant, stop gained
rs886041817	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041866	C>G	Pathogenic	Intron variant
rs886041871	TGC>GGCAACA	Pathogenic	Coding sequence variant, frameshift variant
rs886041904	C>T	Pathogenic	Missense variant, coding sequence variant
rs886042260	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886042286	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042308	C>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs886042473	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042602	T>C	Pathogenic	Splice acceptor variant
rs886042603	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042609	G>T	Pathogenic	Coding sequence variant, stop gained
rs886043749	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886044125	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs946705319	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1057518221	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057518930	C>G	Pathogenic	Splice donor variant
rs1057524547	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064796200	CA>-	Pathogenic	Coding sequence variant, splice donor variant
rs1064796341	GCCAGGGCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1064796415	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796499	C>T	Pathogenic	Coding sequence variant, missense variant
rs1085307454	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1114167374	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167375	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167377	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167378	C>T	Pathogenic	Splice donor variant
rs1114167379	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167380	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167381	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167382	C>T	Pathogenic	Splice donor variant
rs1114167384	ATTGGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167385	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167386	A>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1114167387	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167388	C>G	Pathogenic	Coding sequence variant, missense variant
rs1114167389	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167390	C>T	Pathogenic	Splice donor variant
rs1114167391	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1114167392	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167393	TTAC>-	Pathogenic	Intron variant, splice donor variant
rs1114167394	C>T	Pathogenic	Splice acceptor variant, intron variant
rs1114167395	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167396	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167398	CGAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167399	G>A	Pathogenic	Coding sequence variant, stop gained
rs1114167400	->GCCCT	Pathogenic	Frameshift variant, coding sequence variant
rs1114167401	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167402	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1114167403	G>A	Pathogenic	Coding sequence variant, missense variant
rs1114167405	->G,GGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1114167406	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167407	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1114167408	C>T	Pathogenic	Coding sequence variant, missense variant
rs1114167409	TTGGCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1114167410	C>T	Pathogenic	Coding sequence variant, missense variant
rs1114167411	->ACCATCA	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1131691607	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131692320	C>T	Pathogenic	Coding sequence variant, missense variant
rs1135401953	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1181095991	C>T	Pathogenic	Splice donor variant
rs1228746935	G>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant, stop gained
rs1260429820	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1298621011	C>T	Pathogenic	Splice donor variant
rs1328384458	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1473458290	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555571529	->CCACATC	Pathogenic	Frameshift variant, coding sequence variant
rs1555571536	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571589	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555571647	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555571755	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571766	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555571849	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555571874	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555571916	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555571942	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555572013	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555572015	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555572024	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555572120	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555572121	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555572125	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555572161	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555572239	C>G,T	Pathogenic	Splice donor variant
rs1555572249	GGGGCCAGGGGCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555572254	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555572315	A>T	Likely-pathogenic	Splice donor variant
rs1555572316	C>T	Likely-pathogenic	Splice donor variant
rs1555572331	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555572401	TCTC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555572406	CT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555572418	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs1555572456	GGCCAG>CGCCA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555572458	GGGGGACCA>-,GGGGGACCAGGGGGACCA	Uncertain-significance, likely-pathogenic	Intron variant, inframe insertion, inframe deletion, coding sequence variant
rs1555572537	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555572640	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555572656	->CATCACCAGGTTCGCCTTTAGCACCAG	Pathogenic	Inframe insertion, coding sequence variant
rs1555572756	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555573004	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555573039	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555573040	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555573111	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555573288	C>T	Pathogenic	Splice acceptor variant
rs1555573313	C>T	Pathogenic	Splice donor variant
rs1555573484	TC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573621	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573629	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573684	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573696	G>-	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1555573699	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1555573717	TGAAAGCCTGGGGCCTCACCTTGGCACCAGGC>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1555573734	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573789	AT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573897	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573968	C>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1555573969	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574071	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574113	->A	Likely-pathogenic	Splice donor variant, intron variant
rs1555574123	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574143	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574144	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574151	C>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574154	GGGGACCTTCAGAGCCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574158	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1555574177	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1555574249	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574303	C>G	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574319	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574410	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555574450	AACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGA>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1555574493	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555574496	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555574497	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555574516	C>T	Pathogenic	Splice acceptor variant
rs1555574553	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555574638	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555574641	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555574802	AC>T	Pathogenic	Frameshift variant, coding sequence variant
rs1555574871	->CATAAGACAGCTGGGGAGC	Pathogenic	Frameshift variant, coding sequence variant
rs1555575085	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555575086	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555575370	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555575425	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555575456	C>A	Pathogenic	Splice acceptor variant
rs1555575857	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555575889	T>C	Pathogenic	Initiator codon variant, missense variant
rs1567751388	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567752926	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567752998	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567753046	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567753329	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567753448	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567753699	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567754277	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567754589	CACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567754639	GGG>A	Pathogenic	Frameshift variant, coding sequence variant
rs1567755602	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567756357	->CG	Pathogenic	Frameshift variant, coding sequence variant
rs1567756567	C>T	Pathogenic	Splice acceptor variant
rs1567757138	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567757713	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567759163	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1567759402	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1567760123	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567760604	C>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1567760736	GGCACCTT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567761649	TCACCAG>ACCTCTCA	Pathogenic	Frameshift variant, coding sequence variant
rs1567761800	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567761828	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567761950	GCAGGACC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567762257	T>A	Pathogenic	Stop gained, coding sequence variant
rs1567762262	GTGT>-,GT	Pathogenic	Frameshift variant, coding sequence variant
rs1567763007	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567763447	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567763451	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567764387	T>C	Pathogenic	Intron variant
rs1567764772	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567764832	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567766329	C>T	Pathogenic	Initiator codon variant, missense variant
rs1567766338	A>G	Pathogenic	Initiator codon variant, missense variant
rs1598285120	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1598285125	CTCCT>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1598286050	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598286543	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288002	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288070	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598288342	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598288593	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288634	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1598288648	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288656	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1598288967	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598289247	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598289365	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598289920	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598290382	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1598291438	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598292524	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1598293646	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598293710	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598293885	AG>C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598293920	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1598295066	C>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1598295482	A>T	Pathogenic	Intron variant, splice donor variant
rs1598295506	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598295794	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598296202	C>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1598296825	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1598297227	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598297666	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598297682	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598298292	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598298449	A>T	Pathogenic	Splice donor variant
rs1598298699	C>T	Pathogenic	Splice acceptor variant
rs1598299070	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598299275	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598299754	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598300054	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598300304	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598301459	C>T	Pathogenic	Splice acceptor variant
rs1598301619	C>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000100	hsa-miR-29b-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	19913496
MIRT000100	hsa-miR-29b-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	19913496
MIRT000100	hsa-miR-29b-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	19913496
MIRT004242	hsa-miR-143-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	19913496
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT000928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT000928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT000928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT000100	hsa-miR-29b-3p	Microarray, qRT-PCR, Western blot	22297492
MIRT000100	hsa-miR-29b-3p	Microarray, qRT-PCR, Western blot	22297492
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay	23478036
MIRT000928	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT021714	hsa-miR-133a-3p	Reporter assay	21769867
MIRT022587	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT000100	hsa-miR-29b-3p	Reporter assay	21769867
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23221517
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23221517
MIRT004242	hsa-miR-143-3p	Microarray	22942087
MIRT659433	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT659432	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT659431	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT659430	hsa-miR-3619-3p	HITS-CLIP	23824327
MIRT659429	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT659428	hsa-miR-4776-5p	HITS-CLIP	23824327
MIRT440917	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440917	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT000100	hsa-miR-29b-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27895107
MIRT000100	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT733154	hsa-miR-92a-1-5p	Immunofluorescence, Luciferase reporter assay, RNA-seq, Western blotting	33489015
MIRT733154	hsa-miR-92a-1-5p	Immunofluorescence, Luciferase reporter assay, RNA-seq, Western blotting	33489015
MIRT021714	hsa-miR-133a-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, RNA-seq, Western blotting	31511493
MIRT735072	hsa-miR-133b	Luciferase reporter assay, Western blotting, qRT-PCR	32884288
MIRT000928	hsa-miR-29c-3p	Microarray, RNA-seq	31426562
MIRT659433	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT659432	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT659431	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT659430	hsa-miR-3619-3p	HITS-CLIP	23824327
MIRT659429	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT659428	hsa-miR-4776-5p	HITS-CLIP	23824327
MIRT755611	hsa-miR-766-3p	Luciferase reporter assay, Western blotting, qRT-PCR	38230216
MIRT756181	hsa-miR-185-3p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization, RNA pull down assay	36467040
MIRT024210	hsa-miR-218-5p	qRT-PCR, Immunohistochemistry (IHC), RNA-seq, Flow cytometry	38377935
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35530352
MIRT902683	hsa-miR-1180	CLIP-seq
MIRT902684	hsa-miR-1231	CLIP-seq
MIRT902685	hsa-miR-1262	CLIP-seq
MIRT902686	hsa-miR-1273e	CLIP-seq
MIRT902687	hsa-miR-1275	CLIP-seq
MIRT902688	hsa-miR-1293	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT902690	hsa-miR-1304	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT902692	hsa-miR-3119	CLIP-seq
MIRT902693	hsa-miR-3140-3p	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT902695	hsa-miR-3153	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT902697	hsa-miR-3689a-3p	CLIP-seq
MIRT902698	hsa-miR-3689c	CLIP-seq
MIRT902699	hsa-miR-3940-5p	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT902701	hsa-miR-4288	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT902703	hsa-miR-4483	CLIP-seq
MIRT902704	hsa-miR-4497	CLIP-seq
MIRT902705	hsa-miR-4507	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT902707	hsa-miR-4664-3p	CLIP-seq
MIRT902708	hsa-miR-4665-5p	CLIP-seq
MIRT902709	hsa-miR-4701-3p	CLIP-seq
MIRT902710	hsa-miR-4728-5p	CLIP-seq
MIRT902711	hsa-miR-518a-5p	CLIP-seq
MIRT902712	hsa-miR-527	CLIP-seq
MIRT902713	hsa-miR-625	CLIP-seq
MIRT902714	hsa-miR-632	CLIP-seq
MIRT1546632	hsa-let-7a	CLIP-seq
MIRT1546633	hsa-let-7b	CLIP-seq
MIRT1546634	hsa-let-7c	CLIP-seq
MIRT1546635	hsa-let-7d	CLIP-seq
MIRT1546636	hsa-let-7e	CLIP-seq
MIRT1546637	hsa-let-7f	CLIP-seq
MIRT1546638	hsa-let-7g	CLIP-seq
MIRT1546639	hsa-let-7i	CLIP-seq
MIRT1546640	hsa-miR-103a	CLIP-seq
MIRT1546641	hsa-miR-107	CLIP-seq
MIRT902683	hsa-miR-1180	CLIP-seq
MIRT1546642	hsa-miR-1224-3p	CLIP-seq
MIRT902684	hsa-miR-1231	CLIP-seq
MIRT1546643	hsa-miR-1260	CLIP-seq
MIRT1546644	hsa-miR-1260b	CLIP-seq
MIRT902685	hsa-miR-1262	CLIP-seq
MIRT1546645	hsa-miR-1271	CLIP-seq
MIRT902686	hsa-miR-1273e	CLIP-seq
MIRT902687	hsa-miR-1275	CLIP-seq
MIRT1546646	hsa-miR-1280	CLIP-seq
MIRT1546647	hsa-miR-1285	CLIP-seq
MIRT1546648	hsa-miR-1286	CLIP-seq
MIRT902688	hsa-miR-1293	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT902690	hsa-miR-1304	CLIP-seq
MIRT1546649	hsa-miR-132	CLIP-seq
MIRT1546650	hsa-miR-133a	CLIP-seq
MIRT1546651	hsa-miR-143	CLIP-seq
MIRT1546652	hsa-miR-146a	CLIP-seq
MIRT1546653	hsa-miR-146b-5p	CLIP-seq
MIRT1546654	hsa-miR-1470	CLIP-seq
MIRT1546655	hsa-miR-150	CLIP-seq
MIRT1546656	hsa-miR-182	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT1546657	hsa-miR-1913	CLIP-seq
MIRT1546658	hsa-miR-1914	CLIP-seq
MIRT1546659	hsa-miR-1915	CLIP-seq
MIRT1546660	hsa-miR-193a-5p	CLIP-seq
MIRT1546661	hsa-miR-196a	CLIP-seq
MIRT1546662	hsa-miR-196b	CLIP-seq
MIRT1546663	hsa-miR-2115	CLIP-seq
MIRT1546664	hsa-miR-212	CLIP-seq
MIRT1546665	hsa-miR-2861	CLIP-seq
MIRT1546666	hsa-miR-29a	CLIP-seq
MIRT1546667	hsa-miR-29b	CLIP-seq
MIRT1546668	hsa-miR-29c	CLIP-seq
MIRT1546669	hsa-miR-3074-5p	CLIP-seq
MIRT1546670	hsa-miR-31	CLIP-seq
MIRT902692	hsa-miR-3119	CLIP-seq
MIRT1546671	hsa-miR-3121-3p	CLIP-seq
MIRT1546672	hsa-miR-3135b	CLIP-seq
MIRT902693	hsa-miR-3140-3p	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT1546673	hsa-miR-3150a-3p	CLIP-seq
MIRT902695	hsa-miR-3153	CLIP-seq
MIRT1546674	hsa-miR-3163	CLIP-seq
MIRT1546675	hsa-miR-3166	CLIP-seq
MIRT1546676	hsa-miR-3170	CLIP-seq
MIRT1546677	hsa-miR-3173-5p	CLIP-seq
MIRT1546678	hsa-miR-3175	CLIP-seq
MIRT1546679	hsa-miR-3176	CLIP-seq
MIRT1546680	hsa-miR-3179	CLIP-seq
MIRT1546681	hsa-miR-3182	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT1546682	hsa-miR-3187-5p	CLIP-seq
MIRT1546683	hsa-miR-324-3p	CLIP-seq
MIRT1546684	hsa-miR-335	CLIP-seq
MIRT1546685	hsa-miR-339-3p	CLIP-seq
MIRT1546686	hsa-miR-342-5p	CLIP-seq
MIRT1546687	hsa-miR-34a	CLIP-seq
MIRT1546688	hsa-miR-34c-5p	CLIP-seq
MIRT1546689	hsa-miR-3607-5p	CLIP-seq
MIRT1546690	hsa-miR-3613-3p	CLIP-seq
MIRT1546691	hsa-miR-361-3p	CLIP-seq
MIRT1546692	hsa-miR-3614-5p	CLIP-seq
MIRT1546693	hsa-miR-3620	CLIP-seq
MIRT1546694	hsa-miR-3652	CLIP-seq
MIRT1546695	hsa-miR-3662	CLIP-seq
MIRT902697	hsa-miR-3689a-3p	CLIP-seq
MIRT902698	hsa-miR-3689c	CLIP-seq
MIRT1546696	hsa-miR-376c	CLIP-seq
MIRT1546697	hsa-miR-378g	CLIP-seq
MIRT1546698	hsa-miR-3918	CLIP-seq
MIRT1546699	hsa-miR-3922-3p	CLIP-seq
MIRT1546700	hsa-miR-3938	CLIP-seq
MIRT902699	hsa-miR-3940-5p	CLIP-seq
MIRT1546701	hsa-miR-3941	CLIP-seq
MIRT1546702	hsa-miR-3977	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT1546703	hsa-miR-4258	CLIP-seq
MIRT1546704	hsa-miR-4266	CLIP-seq
MIRT1546705	hsa-miR-4278	CLIP-seq
MIRT1546706	hsa-miR-4279	CLIP-seq
MIRT1546707	hsa-miR-4286	CLIP-seq
MIRT902701	hsa-miR-4288	CLIP-seq
MIRT1546708	hsa-miR-4291	CLIP-seq
MIRT1546709	hsa-miR-4300	CLIP-seq
MIRT1546710	hsa-miR-4310	CLIP-seq
MIRT1546711	hsa-miR-4313	CLIP-seq
MIRT1546712	hsa-miR-4314	CLIP-seq
MIRT1546713	hsa-miR-4317	CLIP-seq
MIRT1546714	hsa-miR-4325	CLIP-seq
MIRT1546715	hsa-miR-4328	CLIP-seq
MIRT1546716	hsa-miR-4329	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT1546717	hsa-miR-4425	CLIP-seq
MIRT1546718	hsa-miR-4430	CLIP-seq
MIRT1546719	hsa-miR-4434	CLIP-seq
MIRT1546720	hsa-miR-4436a	CLIP-seq
MIRT1546721	hsa-miR-4436b-3p	CLIP-seq
MIRT1546722	hsa-miR-4447	CLIP-seq
MIRT1546723	hsa-miR-4457	CLIP-seq
MIRT1546724	hsa-miR-4458	CLIP-seq
MIRT1546725	hsa-miR-4462	CLIP-seq
MIRT1546726	hsa-miR-4472	CLIP-seq
MIRT1546727	hsa-miR-4475	CLIP-seq
MIRT902703	hsa-miR-4483	CLIP-seq
MIRT1546728	hsa-miR-4486	CLIP-seq
MIRT1546729	hsa-miR-4488	CLIP-seq
MIRT902704	hsa-miR-4497	CLIP-seq
MIRT1546730	hsa-miR-449a	CLIP-seq
MIRT1546731	hsa-miR-449b	CLIP-seq
MIRT1546732	hsa-miR-4500	CLIP-seq
MIRT1546733	hsa-miR-4505	CLIP-seq
MIRT902705	hsa-miR-4507	CLIP-seq
MIRT1546734	hsa-miR-450b-3p	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT1546735	hsa-miR-4512	CLIP-seq
MIRT1546736	hsa-miR-4516	CLIP-seq
MIRT1546737	hsa-miR-4531	CLIP-seq
MIRT1546738	hsa-miR-4532	CLIP-seq
MIRT1546739	hsa-miR-4534	CLIP-seq
MIRT1546740	hsa-miR-4640-3p	CLIP-seq
MIRT1546741	hsa-miR-4643	CLIP-seq
MIRT1546742	hsa-miR-466	CLIP-seq
MIRT902707	hsa-miR-4664-3p	CLIP-seq
MIRT1546743	hsa-miR-4664-5p	CLIP-seq
MIRT902708	hsa-miR-4665-5p	CLIP-seq
MIRT1546744	hsa-miR-4667-3p	CLIP-seq
MIRT1546745	hsa-miR-4667-5p	CLIP-seq
MIRT1546746	hsa-miR-4668-5p	CLIP-seq
MIRT1546747	hsa-miR-4672	CLIP-seq
MIRT1546748	hsa-miR-4684-3p	CLIP-seq
MIRT1546749	hsa-miR-4685-5p	CLIP-seq
MIRT1546750	hsa-miR-4691-5p	CLIP-seq
MIRT1546751	hsa-miR-4695-5p	CLIP-seq
MIRT1546752	hsa-miR-4696	CLIP-seq
MIRT1546753	hsa-miR-4697-5p	CLIP-seq
MIRT1546754	hsa-miR-4700-5p	CLIP-seq
MIRT902709	hsa-miR-4701-3p	CLIP-seq
MIRT1546755	hsa-miR-4708-3p	CLIP-seq
MIRT1546756	hsa-miR-4711-3p	CLIP-seq
MIRT1546757	hsa-miR-4713-5p	CLIP-seq
MIRT1546758	hsa-miR-4716-3p	CLIP-seq
MIRT1546759	hsa-miR-4716-5p	CLIP-seq
MIRT1546760	hsa-miR-4722-5p	CLIP-seq
MIRT1546761	hsa-miR-4726-3p	CLIP-seq
MIRT902710	hsa-miR-4728-5p	CLIP-seq
MIRT1546762	hsa-miR-4731-3p	CLIP-seq
MIRT1546763	hsa-miR-4731-5p	CLIP-seq
MIRT1546764	hsa-miR-4770	CLIP-seq
MIRT1546765	hsa-miR-4773	CLIP-seq
MIRT1546766	hsa-miR-4789-3p	CLIP-seq
MIRT1546767	hsa-miR-4789-5p	CLIP-seq
MIRT1546768	hsa-miR-4797-5p	CLIP-seq
MIRT1546769	hsa-miR-4801	CLIP-seq
MIRT1546770	hsa-miR-4802-5p	CLIP-seq
MIRT1546771	hsa-miR-498	CLIP-seq
MIRT1546772	hsa-miR-503	CLIP-seq
MIRT1546773	hsa-miR-513b	CLIP-seq
MIRT1546774	hsa-miR-514	CLIP-seq
MIRT1546775	hsa-miR-514b-3p	CLIP-seq
MIRT902711	hsa-miR-518a-5p	CLIP-seq
MIRT902712	hsa-miR-527	CLIP-seq
MIRT1546776	hsa-miR-532-3p	CLIP-seq
MIRT1546777	hsa-miR-545	CLIP-seq
MIRT1546778	hsa-miR-548a-3p	CLIP-seq
MIRT1546779	hsa-miR-548ac	CLIP-seq
MIRT1546780	hsa-miR-548ad	CLIP-seq
MIRT1546781	hsa-miR-548ae	CLIP-seq
MIRT1546782	hsa-miR-548ah	CLIP-seq
MIRT1546783	hsa-miR-548aj	CLIP-seq
MIRT1546784	hsa-miR-548am	CLIP-seq
MIRT1546785	hsa-miR-548d-3p	CLIP-seq
MIRT1546786	hsa-miR-548e	CLIP-seq
MIRT1546787	hsa-miR-548f	CLIP-seq
MIRT1546788	hsa-miR-548x	CLIP-seq
MIRT1546789	hsa-miR-548z	CLIP-seq
MIRT1546790	hsa-miR-576-3p	CLIP-seq
MIRT1546791	hsa-miR-577	CLIP-seq
MIRT1546792	hsa-miR-589	CLIP-seq
MIRT1546793	hsa-miR-609	CLIP-seq
MIRT1546794	hsa-miR-612	CLIP-seq
MIRT1546795	hsa-miR-622	CLIP-seq
MIRT902713	hsa-miR-625	CLIP-seq
MIRT902714	hsa-miR-632	CLIP-seq
MIRT1546796	hsa-miR-637	CLIP-seq
MIRT1546797	hsa-miR-642a	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546799	hsa-miR-659	CLIP-seq
MIRT1546800	hsa-miR-661	CLIP-seq
MIRT1546801	hsa-miR-769-3p	CLIP-seq
MIRT1546802	hsa-miR-9	CLIP-seq
MIRT1546803	hsa-miR-920	CLIP-seq
MIRT1546804	hsa-miR-924	CLIP-seq
MIRT1546805	hsa-miR-935	CLIP-seq
MIRT1546806	hsa-miR-939	CLIP-seq
MIRT1546807	hsa-miR-96	CLIP-seq
MIRT1546808	hsa-miR-98	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT1546677	hsa-miR-3173-5p	CLIP-seq
MIRT1546702	hsa-miR-3977	CLIP-seq
MIRT1546723	hsa-miR-4457	CLIP-seq
MIRT1546768	hsa-miR-4797-5p	CLIP-seq
MIRT1546804	hsa-miR-924	CLIP-seq
MIRT902683	hsa-miR-1180	CLIP-seq
MIRT902684	hsa-miR-1231	CLIP-seq
MIRT902686	hsa-miR-1273e	CLIP-seq
MIRT902687	hsa-miR-1275	CLIP-seq
MIRT902690	hsa-miR-1304	CLIP-seq
MIRT1546666	hsa-miR-29a	CLIP-seq
MIRT1546667	hsa-miR-29b	CLIP-seq
MIRT1546668	hsa-miR-29c	CLIP-seq
MIRT902692	hsa-miR-3119	CLIP-seq
MIRT902693	hsa-miR-3140-3p	CLIP-seq
MIRT902695	hsa-miR-3153	CLIP-seq
MIRT1546679	hsa-miR-3176	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT2203531	hsa-miR-3692	CLIP-seq
MIRT1546699	hsa-miR-3922-3p	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT902701	hsa-miR-4288	CLIP-seq
MIRT902704	hsa-miR-4497	CLIP-seq
MIRT902707	hsa-miR-4664-3p	CLIP-seq
MIRT902708	hsa-miR-4665-5p	CLIP-seq
MIRT1546759	hsa-miR-4716-5p	CLIP-seq
MIRT1546772	hsa-miR-503	CLIP-seq
MIRT902713	hsa-miR-625	CLIP-seq
MIRT902714	hsa-miR-632	CLIP-seq
MIRT1546796	hsa-miR-637	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546800	hsa-miR-661	CLIP-seq
MIRT1546632	hsa-let-7a	CLIP-seq
MIRT1546633	hsa-let-7b	CLIP-seq
MIRT1546634	hsa-let-7c	CLIP-seq
MIRT1546635	hsa-let-7d	CLIP-seq
MIRT1546636	hsa-let-7e	CLIP-seq
MIRT1546637	hsa-let-7f	CLIP-seq
MIRT1546638	hsa-let-7g	CLIP-seq
MIRT1546639	hsa-let-7i	CLIP-seq
MIRT1546640	hsa-miR-103a	CLIP-seq
MIRT1546641	hsa-miR-107	CLIP-seq
MIRT902683	hsa-miR-1180	CLIP-seq
MIRT1546642	hsa-miR-1224-3p	CLIP-seq
MIRT902684	hsa-miR-1231	CLIP-seq
MIRT1546643	hsa-miR-1260	CLIP-seq
MIRT1546644	hsa-miR-1260b	CLIP-seq
MIRT902685	hsa-miR-1262	CLIP-seq
MIRT902686	hsa-miR-1273e	CLIP-seq
MIRT902687	hsa-miR-1275	CLIP-seq
MIRT1546646	hsa-miR-1280	CLIP-seq
MIRT1546647	hsa-miR-1285	CLIP-seq
MIRT1546648	hsa-miR-1286	CLIP-seq
MIRT902688	hsa-miR-1293	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT902690	hsa-miR-1304	CLIP-seq
MIRT1546649	hsa-miR-132	CLIP-seq
MIRT1546650	hsa-miR-133a	CLIP-seq
MIRT2427463	hsa-miR-138	CLIP-seq
MIRT1546651	hsa-miR-143	CLIP-seq
MIRT1546654	hsa-miR-1470	CLIP-seq
MIRT1546655	hsa-miR-150	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT1546658	hsa-miR-1914	CLIP-seq
MIRT1546660	hsa-miR-193a-5p	CLIP-seq
MIRT1546661	hsa-miR-196a	CLIP-seq
MIRT1546662	hsa-miR-196b	CLIP-seq
MIRT2427464	hsa-miR-2113	CLIP-seq
MIRT1546663	hsa-miR-2115	CLIP-seq
MIRT1546664	hsa-miR-212	CLIP-seq
MIRT2427465	hsa-miR-218	CLIP-seq
MIRT2427466	hsa-miR-2355-5p	CLIP-seq
MIRT1546665	hsa-miR-2861	CLIP-seq
MIRT1546666	hsa-miR-29a	CLIP-seq
MIRT1546667	hsa-miR-29b	CLIP-seq
MIRT1546668	hsa-miR-29c	CLIP-seq
MIRT1546669	hsa-miR-3074-5p	CLIP-seq
MIRT902692	hsa-miR-3119	CLIP-seq
MIRT1546671	hsa-miR-3121-3p	CLIP-seq
MIRT2427467	hsa-miR-3130-5p	CLIP-seq
MIRT1546672	hsa-miR-3135b	CLIP-seq
MIRT902693	hsa-miR-3140-3p	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT1546673	hsa-miR-3150a-3p	CLIP-seq
MIRT902695	hsa-miR-3153	CLIP-seq
MIRT1546675	hsa-miR-3166	CLIP-seq
MIRT1546676	hsa-miR-3170	CLIP-seq
MIRT1546677	hsa-miR-3173-5p	CLIP-seq
MIRT1546678	hsa-miR-3175	CLIP-seq
MIRT1546679	hsa-miR-3176	CLIP-seq
MIRT1546681	hsa-miR-3182	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT1546682	hsa-miR-3187-5p	CLIP-seq
MIRT2427468	hsa-miR-338-3p	CLIP-seq
MIRT1546686	hsa-miR-342-5p	CLIP-seq
MIRT1546689	hsa-miR-3607-5p	CLIP-seq
MIRT1546690	hsa-miR-3613-3p	CLIP-seq
MIRT1546692	hsa-miR-3614-5p	CLIP-seq
MIRT1546694	hsa-miR-3652	CLIP-seq
MIRT902697	hsa-miR-3689a-3p	CLIP-seq
MIRT902698	hsa-miR-3689c	CLIP-seq
MIRT2203531	hsa-miR-3692	CLIP-seq
MIRT2427469	hsa-miR-371-5p	CLIP-seq
MIRT2427470	hsa-miR-371b-5p	CLIP-seq
MIRT1546697	hsa-miR-378g	CLIP-seq
MIRT2427471	hsa-miR-382	CLIP-seq
MIRT1546698	hsa-miR-3918	CLIP-seq
MIRT2427472	hsa-miR-3921	CLIP-seq
MIRT1546699	hsa-miR-3922-3p	CLIP-seq
MIRT1546700	hsa-miR-3938	CLIP-seq
MIRT902699	hsa-miR-3940-5p	CLIP-seq
MIRT1546701	hsa-miR-3941	CLIP-seq
MIRT1546702	hsa-miR-3977	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT1546703	hsa-miR-4258	CLIP-seq
MIRT1546704	hsa-miR-4266	CLIP-seq
MIRT1546705	hsa-miR-4278	CLIP-seq
MIRT1546706	hsa-miR-4279	CLIP-seq
MIRT902701	hsa-miR-4288	CLIP-seq
MIRT1546708	hsa-miR-4291	CLIP-seq
MIRT2427473	hsa-miR-4307	CLIP-seq
MIRT1546710	hsa-miR-4310	CLIP-seq
MIRT1546712	hsa-miR-4314	CLIP-seq
MIRT1546713	hsa-miR-4317	CLIP-seq
MIRT1546714	hsa-miR-4325	CLIP-seq
MIRT1546715	hsa-miR-4328	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT1546717	hsa-miR-4425	CLIP-seq
MIRT1546718	hsa-miR-4430	CLIP-seq
MIRT1546719	hsa-miR-4434	CLIP-seq
MIRT1546720	hsa-miR-4436a	CLIP-seq
MIRT1546721	hsa-miR-4436b-3p	CLIP-seq
MIRT1546722	hsa-miR-4447	CLIP-seq
MIRT2427474	hsa-miR-4456	CLIP-seq
MIRT1546723	hsa-miR-4457	CLIP-seq
MIRT1546724	hsa-miR-4458	CLIP-seq
MIRT1546725	hsa-miR-4462	CLIP-seq
MIRT1546726	hsa-miR-4472	CLIP-seq
MIRT1546727	hsa-miR-4475	CLIP-seq
MIRT2427475	hsa-miR-4482	CLIP-seq
MIRT902703	hsa-miR-4483	CLIP-seq
MIRT1546728	hsa-miR-4486	CLIP-seq
MIRT1546729	hsa-miR-4488	CLIP-seq
MIRT902704	hsa-miR-4497	CLIP-seq
MIRT1546732	hsa-miR-4500	CLIP-seq
MIRT1546733	hsa-miR-4505	CLIP-seq
MIRT902705	hsa-miR-4507	CLIP-seq
MIRT1546734	hsa-miR-450b-3p	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT1546735	hsa-miR-4512	CLIP-seq
MIRT1546736	hsa-miR-4516	CLIP-seq
MIRT2427476	hsa-miR-4522	CLIP-seq
MIRT2427477	hsa-miR-4530	CLIP-seq
MIRT1546737	hsa-miR-4531	CLIP-seq
MIRT1546738	hsa-miR-4532	CLIP-seq
MIRT1546739	hsa-miR-4534	CLIP-seq
MIRT1546740	hsa-miR-4640-3p	CLIP-seq
MIRT1546741	hsa-miR-4643	CLIP-seq
MIRT2427478	hsa-miR-4653-5p	CLIP-seq
MIRT1546742	hsa-miR-466	CLIP-seq
MIRT902707	hsa-miR-4664-3p	CLIP-seq
MIRT1546743	hsa-miR-4664-5p	CLIP-seq
MIRT902708	hsa-miR-4665-5p	CLIP-seq
MIRT1546744	hsa-miR-4667-3p	CLIP-seq
MIRT1546745	hsa-miR-4667-5p	CLIP-seq
MIRT1546746	hsa-miR-4668-5p	CLIP-seq
MIRT1546747	hsa-miR-4672	CLIP-seq
MIRT1546750	hsa-miR-4691-5p	CLIP-seq
MIRT1546751	hsa-miR-4695-5p	CLIP-seq
MIRT1546753	hsa-miR-4697-5p	CLIP-seq
MIRT2427479	hsa-miR-4698	CLIP-seq
MIRT1546754	hsa-miR-4700-5p	CLIP-seq
MIRT902709	hsa-miR-4701-3p	CLIP-seq
MIRT1546756	hsa-miR-4711-3p	CLIP-seq
MIRT1546757	hsa-miR-4713-5p	CLIP-seq
MIRT1546758	hsa-miR-4716-3p	CLIP-seq
MIRT1546759	hsa-miR-4716-5p	CLIP-seq
MIRT1546760	hsa-miR-4722-5p	CLIP-seq
MIRT902710	hsa-miR-4728-5p	CLIP-seq
MIRT1546762	hsa-miR-4731-3p	CLIP-seq
MIRT1546763	hsa-miR-4731-5p	CLIP-seq
MIRT2427480	hsa-miR-4766-5p	CLIP-seq
MIRT1546764	hsa-miR-4770	CLIP-seq
MIRT1546765	hsa-miR-4773	CLIP-seq
MIRT1546766	hsa-miR-4789-3p	CLIP-seq
MIRT1546767	hsa-miR-4789-5p	CLIP-seq
MIRT2427481	hsa-miR-4795-3p	CLIP-seq
MIRT1546768	hsa-miR-4797-5p	CLIP-seq
MIRT1546769	hsa-miR-4801	CLIP-seq
MIRT1546770	hsa-miR-4802-5p	CLIP-seq
MIRT1546771	hsa-miR-498	CLIP-seq
MIRT1546772	hsa-miR-503	CLIP-seq
MIRT1546773	hsa-miR-513b	CLIP-seq
MIRT1546774	hsa-miR-514	CLIP-seq
MIRT1546775	hsa-miR-514b-3p	CLIP-seq
MIRT902711	hsa-miR-518a-5p	CLIP-seq
MIRT902712	hsa-miR-527	CLIP-seq
MIRT1546776	hsa-miR-532-3p	CLIP-seq
MIRT2427482	hsa-miR-544	CLIP-seq
MIRT1546777	hsa-miR-545	CLIP-seq
MIRT1546778	hsa-miR-548a-3p	CLIP-seq
MIRT1546779	hsa-miR-548ac	CLIP-seq
MIRT1546781	hsa-miR-548ae	CLIP-seq
MIRT1546782	hsa-miR-548ah	CLIP-seq
MIRT1546783	hsa-miR-548aj	CLIP-seq
MIRT1546784	hsa-miR-548am	CLIP-seq
MIRT2427483	hsa-miR-548c-3p	CLIP-seq
MIRT1546785	hsa-miR-548d-3p	CLIP-seq
MIRT1546786	hsa-miR-548e	CLIP-seq
MIRT1546787	hsa-miR-548f	CLIP-seq
MIRT1546788	hsa-miR-548x	CLIP-seq
MIRT1546789	hsa-miR-548z	CLIP-seq
MIRT1546791	hsa-miR-577	CLIP-seq
MIRT2427484	hsa-miR-593	CLIP-seq
MIRT1546793	hsa-miR-609	CLIP-seq
MIRT1546794	hsa-miR-612	CLIP-seq
MIRT902713	hsa-miR-625	CLIP-seq
MIRT902714	hsa-miR-632	CLIP-seq
MIRT2427485	hsa-miR-636	CLIP-seq
MIRT1546796	hsa-miR-637	CLIP-seq
MIRT1546797	hsa-miR-642a	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546799	hsa-miR-659	CLIP-seq
MIRT1546800	hsa-miR-661	CLIP-seq
MIRT1546801	hsa-miR-769-3p	CLIP-seq
MIRT1546802	hsa-miR-9	CLIP-seq
MIRT1546804	hsa-miR-924	CLIP-seq
MIRT1546805	hsa-miR-935	CLIP-seq
MIRT1546806	hsa-miR-939	CLIP-seq
MIRT2427486	hsa-miR-944	CLIP-seq
MIRT1546808	hsa-miR-98	CLIP-seq
MIRT1546779	hsa-miR-548ac	CLIP-seq
MIRT1546785	hsa-miR-548d-3p	CLIP-seq
MIRT1546789	hsa-miR-548z	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT1546779	hsa-miR-548ac	CLIP-seq
MIRT1546785	hsa-miR-548d-3p	CLIP-seq
MIRT1546789	hsa-miR-548z	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT1546779	hsa-miR-548ac	CLIP-seq
MIRT1546785	hsa-miR-548d-3p	CLIP-seq
MIRT1546789	hsa-miR-548z	CLIP-seq
MIRT1546632	hsa-let-7a	CLIP-seq
MIRT1546633	hsa-let-7b	CLIP-seq
MIRT1546634	hsa-let-7c	CLIP-seq
MIRT1546635	hsa-let-7d	CLIP-seq
MIRT1546636	hsa-let-7e	CLIP-seq
MIRT1546637	hsa-let-7f	CLIP-seq
MIRT1546638	hsa-let-7g	CLIP-seq
MIRT1546639	hsa-let-7i	CLIP-seq
MIRT1546640	hsa-miR-103a	CLIP-seq
MIRT1546641	hsa-miR-107	CLIP-seq
MIRT2436287	hsa-miR-1204	CLIP-seq
MIRT902685	hsa-miR-1262	CLIP-seq
MIRT1546645	hsa-miR-1271	CLIP-seq
MIRT1546648	hsa-miR-1286	CLIP-seq
MIRT2436288	hsa-miR-1291	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT1546649	hsa-miR-132	CLIP-seq
MIRT2427463	hsa-miR-138	CLIP-seq
MIRT1546652	hsa-miR-146a	CLIP-seq
MIRT1546653	hsa-miR-146b-5p	CLIP-seq
MIRT1546654	hsa-miR-1470	CLIP-seq
MIRT1546656	hsa-miR-182	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT1546658	hsa-miR-1914	CLIP-seq
MIRT1546659	hsa-miR-1915	CLIP-seq
MIRT1546660	hsa-miR-193a-5p	CLIP-seq
MIRT1546661	hsa-miR-196a	CLIP-seq
MIRT1546662	hsa-miR-196b	CLIP-seq
MIRT1546664	hsa-miR-212	CLIP-seq
MIRT2427466	hsa-miR-2355-5p	CLIP-seq
MIRT1546665	hsa-miR-2861	CLIP-seq
MIRT1546666	hsa-miR-29a	CLIP-seq
MIRT1546667	hsa-miR-29b	CLIP-seq
MIRT1546668	hsa-miR-29c	CLIP-seq
MIRT1546669	hsa-miR-3074-5p	CLIP-seq
MIRT1546670	hsa-miR-31	CLIP-seq
MIRT1546671	hsa-miR-3121-3p	CLIP-seq
MIRT2427467	hsa-miR-3130-5p	CLIP-seq
MIRT1546672	hsa-miR-3135b	CLIP-seq
MIRT1546673	hsa-miR-3150a-3p	CLIP-seq
MIRT1546674	hsa-miR-3163	CLIP-seq
MIRT1546675	hsa-miR-3166	CLIP-seq
MIRT1546676	hsa-miR-3170	CLIP-seq
MIRT1546677	hsa-miR-3173-5p	CLIP-seq
MIRT1546678	hsa-miR-3175	CLIP-seq
MIRT1546679	hsa-miR-3176	CLIP-seq
MIRT1546680	hsa-miR-3179	CLIP-seq
MIRT1546681	hsa-miR-3182	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT2436289	hsa-miR-328	CLIP-seq
MIRT1546684	hsa-miR-335	CLIP-seq
MIRT1546685	hsa-miR-339-3p	CLIP-seq
MIRT1546686	hsa-miR-342-5p	CLIP-seq
MIRT1546687	hsa-miR-34a	CLIP-seq
MIRT1546688	hsa-miR-34c-5p	CLIP-seq
MIRT1546690	hsa-miR-3613-3p	CLIP-seq
MIRT1546691	hsa-miR-361-3p	CLIP-seq
MIRT1546692	hsa-miR-3614-5p	CLIP-seq
MIRT1546694	hsa-miR-3652	CLIP-seq
MIRT1546695	hsa-miR-3662	CLIP-seq
MIRT2427470	hsa-miR-371b-5p	CLIP-seq
MIRT1546696	hsa-miR-376c	CLIP-seq
MIRT1546697	hsa-miR-378g	CLIP-seq
MIRT1546698	hsa-miR-3918	CLIP-seq
MIRT1546699	hsa-miR-3922-3p	CLIP-seq
MIRT1546700	hsa-miR-3938	CLIP-seq
MIRT1546701	hsa-miR-3941	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT1546703	hsa-miR-4258	CLIP-seq
MIRT1546704	hsa-miR-4266	CLIP-seq
MIRT1546706	hsa-miR-4279	CLIP-seq
MIRT1546707	hsa-miR-4286	CLIP-seq
MIRT1546708	hsa-miR-4291	CLIP-seq
MIRT1546709	hsa-miR-4300	CLIP-seq
MIRT2436290	hsa-miR-4304	CLIP-seq
MIRT1546710	hsa-miR-4310	CLIP-seq
MIRT1546712	hsa-miR-4314	CLIP-seq
MIRT1546713	hsa-miR-4317	CLIP-seq
MIRT1546716	hsa-miR-4329	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT1546718	hsa-miR-4430	CLIP-seq
MIRT1546719	hsa-miR-4434	CLIP-seq
MIRT1546720	hsa-miR-4436a	CLIP-seq
MIRT1546721	hsa-miR-4436b-3p	CLIP-seq
MIRT2436291	hsa-miR-4440	CLIP-seq
MIRT1546722	hsa-miR-4447	CLIP-seq
MIRT2427474	hsa-miR-4456	CLIP-seq
MIRT1546723	hsa-miR-4457	CLIP-seq
MIRT1546724	hsa-miR-4458	CLIP-seq
MIRT1546725	hsa-miR-4462	CLIP-seq
MIRT1546726	hsa-miR-4472	CLIP-seq
MIRT1546727	hsa-miR-4475	CLIP-seq
MIRT2427475	hsa-miR-4482	CLIP-seq
MIRT1546728	hsa-miR-4486	CLIP-seq
MIRT1546729	hsa-miR-4488	CLIP-seq
MIRT1546730	hsa-miR-449a	CLIP-seq
MIRT1546731	hsa-miR-449b	CLIP-seq
MIRT1546732	hsa-miR-4500	CLIP-seq
MIRT1546733	hsa-miR-4505	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT1546735	hsa-miR-4512	CLIP-seq
MIRT1546736	hsa-miR-4516	CLIP-seq
MIRT2427476	hsa-miR-4522	CLIP-seq
MIRT1546737	hsa-miR-4531	CLIP-seq
MIRT1546738	hsa-miR-4532	CLIP-seq
MIRT1546740	hsa-miR-4640-3p	CLIP-seq
MIRT1546742	hsa-miR-466	CLIP-seq
MIRT1546743	hsa-miR-4664-5p	CLIP-seq
MIRT1546744	hsa-miR-4667-3p	CLIP-seq
MIRT1546745	hsa-miR-4667-5p	CLIP-seq
MIRT1546747	hsa-miR-4672	CLIP-seq
MIRT1546748	hsa-miR-4684-3p	CLIP-seq
MIRT1546749	hsa-miR-4685-5p	CLIP-seq
MIRT1546751	hsa-miR-4695-5p	CLIP-seq
MIRT1546752	hsa-miR-4696	CLIP-seq
MIRT1546753	hsa-miR-4697-5p	CLIP-seq
MIRT1546754	hsa-miR-4700-5p	CLIP-seq
MIRT902709	hsa-miR-4701-3p	CLIP-seq
MIRT2436292	hsa-miR-4707-5p	CLIP-seq
MIRT1546755	hsa-miR-4708-3p	CLIP-seq
MIRT1546756	hsa-miR-4711-3p	CLIP-seq
MIRT1546759	hsa-miR-4716-5p	CLIP-seq
MIRT1546760	hsa-miR-4722-5p	CLIP-seq
MIRT1546761	hsa-miR-4726-3p	CLIP-seq
MIRT1546762	hsa-miR-4731-3p	CLIP-seq
MIRT1546763	hsa-miR-4731-5p	CLIP-seq
MIRT1546765	hsa-miR-4773	CLIP-seq
MIRT1546769	hsa-miR-4801	CLIP-seq
MIRT1546771	hsa-miR-498	CLIP-seq
MIRT1546772	hsa-miR-503	CLIP-seq
MIRT2427482	hsa-miR-544	CLIP-seq
MIRT1546777	hsa-miR-545	CLIP-seq
MIRT1546780	hsa-miR-548ad	CLIP-seq
MIRT1546782	hsa-miR-548ah	CLIP-seq
MIRT1546790	hsa-miR-576-3p	CLIP-seq
MIRT1546792	hsa-miR-589	CLIP-seq
MIRT1546793	hsa-miR-609	CLIP-seq
MIRT1546795	hsa-miR-622	CLIP-seq
MIRT1546796	hsa-miR-637	CLIP-seq
MIRT1546797	hsa-miR-642a	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546800	hsa-miR-661	CLIP-seq
MIRT2436293	hsa-miR-663b	CLIP-seq
MIRT1546802	hsa-miR-9	CLIP-seq
MIRT1546803	hsa-miR-920	CLIP-seq
MIRT1546805	hsa-miR-935	CLIP-seq
MIRT1546806	hsa-miR-939	CLIP-seq
MIRT1546807	hsa-miR-96	CLIP-seq
MIRT1546808	hsa-miR-98	CLIP-seq
MIRT1546632	hsa-let-7a	CLIP-seq
MIRT1546633	hsa-let-7b	CLIP-seq
MIRT1546634	hsa-let-7c	CLIP-seq
MIRT1546635	hsa-let-7d	CLIP-seq
MIRT1546636	hsa-let-7e	CLIP-seq
MIRT1546637	hsa-let-7f	CLIP-seq
MIRT1546638	hsa-let-7g	CLIP-seq
MIRT1546639	hsa-let-7i	CLIP-seq
MIRT1546648	hsa-miR-1286	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT2427463	hsa-miR-138	CLIP-seq
MIRT1546660	hsa-miR-193a-5p	CLIP-seq
MIRT1546661	hsa-miR-196a	CLIP-seq
MIRT1546662	hsa-miR-196b	CLIP-seq
MIRT2427466	hsa-miR-2355-5p	CLIP-seq
MIRT2427467	hsa-miR-3130-5p	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT1546701	hsa-miR-3941	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT1546704	hsa-miR-4266	CLIP-seq
MIRT1546706	hsa-miR-4279	CLIP-seq
MIRT1546708	hsa-miR-4291	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT1546720	hsa-miR-4436a	CLIP-seq
MIRT2427474	hsa-miR-4456	CLIP-seq
MIRT1546724	hsa-miR-4458	CLIP-seq
MIRT1546725	hsa-miR-4462	CLIP-seq
MIRT2427475	hsa-miR-4482	CLIP-seq
MIRT1546732	hsa-miR-4500	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT2427476	hsa-miR-4522	CLIP-seq
MIRT1546738	hsa-miR-4532	CLIP-seq
MIRT1546740	hsa-miR-4640-3p	CLIP-seq
MIRT1546742	hsa-miR-466	CLIP-seq
MIRT1546747	hsa-miR-4672	CLIP-seq
MIRT1546751	hsa-miR-4695-5p	CLIP-seq
MIRT1546762	hsa-miR-4731-3p	CLIP-seq
MIRT1546769	hsa-miR-4801	CLIP-seq
MIRT1546771	hsa-miR-498	CLIP-seq
MIRT1546777	hsa-miR-545	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546805	hsa-miR-935	CLIP-seq
MIRT1546808	hsa-miR-98	CLIP-seq
MIRT1546632	hsa-let-7a	CLIP-seq
MIRT1546633	hsa-let-7b	CLIP-seq
MIRT1546634	hsa-let-7c	CLIP-seq
MIRT1546635	hsa-let-7d	CLIP-seq
MIRT1546636	hsa-let-7e	CLIP-seq
MIRT1546637	hsa-let-7f	CLIP-seq
MIRT1546638	hsa-let-7g	CLIP-seq
MIRT1546639	hsa-let-7i	CLIP-seq
MIRT1546642	hsa-miR-1224-3p	CLIP-seq
MIRT1546643	hsa-miR-1260	CLIP-seq
MIRT1546644	hsa-miR-1260b	CLIP-seq
MIRT1546645	hsa-miR-1271	CLIP-seq
MIRT1546646	hsa-miR-1280	CLIP-seq
MIRT1546648	hsa-miR-1286	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT1546649	hsa-miR-132	CLIP-seq
MIRT2427463	hsa-miR-138	CLIP-seq
MIRT1546652	hsa-miR-146a	CLIP-seq
MIRT1546653	hsa-miR-146b-5p	CLIP-seq
MIRT1546656	hsa-miR-182	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT1546661	hsa-miR-196a	CLIP-seq
MIRT1546662	hsa-miR-196b	CLIP-seq
MIRT2427464	hsa-miR-2113	CLIP-seq
MIRT1546663	hsa-miR-2115	CLIP-seq
MIRT1546664	hsa-miR-212	CLIP-seq
MIRT2427465	hsa-miR-218	CLIP-seq
MIRT2427466	hsa-miR-2355-5p	CLIP-seq
MIRT1546670	hsa-miR-31	CLIP-seq
MIRT2427467	hsa-miR-3130-5p	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT1546677	hsa-miR-3173-5p	CLIP-seq
MIRT1546678	hsa-miR-3175	CLIP-seq
MIRT1546680	hsa-miR-3179	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT1546684	hsa-miR-335	CLIP-seq
MIRT1546685	hsa-miR-339-3p	CLIP-seq
MIRT1546687	hsa-miR-34a	CLIP-seq
MIRT1546688	hsa-miR-34c-5p	CLIP-seq
MIRT1546690	hsa-miR-3613-3p	CLIP-seq
MIRT2427470	hsa-miR-371b-5p	CLIP-seq
MIRT1546697	hsa-miR-378g	CLIP-seq
MIRT2427471	hsa-miR-382	CLIP-seq
MIRT2427472	hsa-miR-3921	CLIP-seq
MIRT1546701	hsa-miR-3941	CLIP-seq
MIRT1546702	hsa-miR-3977	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT1546703	hsa-miR-4258	CLIP-seq
MIRT1546704	hsa-miR-4266	CLIP-seq
MIRT1546705	hsa-miR-4278	CLIP-seq
MIRT1546706	hsa-miR-4279	CLIP-seq
MIRT1546708	hsa-miR-4291	CLIP-seq
MIRT1546709	hsa-miR-4300	CLIP-seq
MIRT2436290	hsa-miR-4304	CLIP-seq
MIRT1546716	hsa-miR-4329	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT1546720	hsa-miR-4436a	CLIP-seq
MIRT2427474	hsa-miR-4456	CLIP-seq
MIRT1546723	hsa-miR-4457	CLIP-seq
MIRT1546724	hsa-miR-4458	CLIP-seq
MIRT1546725	hsa-miR-4462	CLIP-seq
MIRT2427475	hsa-miR-4482	CLIP-seq
MIRT1546730	hsa-miR-449a	CLIP-seq
MIRT1546731	hsa-miR-449b	CLIP-seq
MIRT1546732	hsa-miR-4500	CLIP-seq
MIRT1546733	hsa-miR-4505	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT2427476	hsa-miR-4522	CLIP-seq
MIRT1546738	hsa-miR-4532	CLIP-seq
MIRT1546740	hsa-miR-4640-3p	CLIP-seq
MIRT1546741	hsa-miR-4643	CLIP-seq
MIRT2427478	hsa-miR-4653-5p	CLIP-seq
MIRT1546742	hsa-miR-466	CLIP-seq
MIRT1546746	hsa-miR-4668-5p	CLIP-seq
MIRT1546747	hsa-miR-4672	CLIP-seq
MIRT1546748	hsa-miR-4684-3p	CLIP-seq
MIRT1546750	hsa-miR-4691-5p	CLIP-seq
MIRT1546751	hsa-miR-4695-5p	CLIP-seq
MIRT1546752	hsa-miR-4696	CLIP-seq
MIRT2436292	hsa-miR-4707-5p	CLIP-seq
MIRT1546755	hsa-miR-4708-3p	CLIP-seq
MIRT1546758	hsa-miR-4716-3p	CLIP-seq
MIRT1546762	hsa-miR-4731-3p	CLIP-seq
MIRT2427480	hsa-miR-4766-5p	CLIP-seq
MIRT1546765	hsa-miR-4773	CLIP-seq
MIRT1546766	hsa-miR-4789-3p	CLIP-seq
MIRT1546767	hsa-miR-4789-5p	CLIP-seq
MIRT1546768	hsa-miR-4797-5p	CLIP-seq
MIRT1546769	hsa-miR-4801	CLIP-seq
MIRT1546772	hsa-miR-503	CLIP-seq
MIRT1546776	hsa-miR-532-3p	CLIP-seq
MIRT1546777	hsa-miR-545	CLIP-seq
MIRT1546778	hsa-miR-548a-3p	CLIP-seq
MIRT1546780	hsa-miR-548ad	CLIP-seq
MIRT1546781	hsa-miR-548ae	CLIP-seq
MIRT1546782	hsa-miR-548ah	CLIP-seq
MIRT1546783	hsa-miR-548aj	CLIP-seq
MIRT1546784	hsa-miR-548am	CLIP-seq
MIRT1546786	hsa-miR-548e	CLIP-seq
MIRT1546787	hsa-miR-548f	CLIP-seq
MIRT1546788	hsa-miR-548x	CLIP-seq
MIRT1546792	hsa-miR-589	CLIP-seq
MIRT2427484	hsa-miR-593	CLIP-seq
MIRT1546795	hsa-miR-622	CLIP-seq
MIRT902713	hsa-miR-625	CLIP-seq
MIRT2427485	hsa-miR-636	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546802	hsa-miR-9	CLIP-seq
MIRT1546803	hsa-miR-920	CLIP-seq
MIRT1546804	hsa-miR-924	CLIP-seq
MIRT1546805	hsa-miR-935	CLIP-seq
MIRT1546807	hsa-miR-96	CLIP-seq
MIRT1546808	hsa-miR-98	CLIP-seq
MIRT1546632	hsa-let-7a	CLIP-seq
MIRT1546633	hsa-let-7b	CLIP-seq
MIRT1546634	hsa-let-7c	CLIP-seq
MIRT1546635	hsa-let-7d	CLIP-seq
MIRT1546636	hsa-let-7e	CLIP-seq
MIRT1546637	hsa-let-7f	CLIP-seq
MIRT1546638	hsa-let-7g	CLIP-seq
MIRT1546639	hsa-let-7i	CLIP-seq
MIRT1546642	hsa-miR-1224-3p	CLIP-seq
MIRT1546643	hsa-miR-1260	CLIP-seq
MIRT1546644	hsa-miR-1260b	CLIP-seq
MIRT1546646	hsa-miR-1280	CLIP-seq
MIRT1546648	hsa-miR-1286	CLIP-seq
MIRT902689	hsa-miR-1301	CLIP-seq
MIRT1546649	hsa-miR-132	CLIP-seq
MIRT2427463	hsa-miR-138	CLIP-seq
MIRT902691	hsa-miR-185	CLIP-seq
MIRT1546661	hsa-miR-196a	CLIP-seq
MIRT1546662	hsa-miR-196b	CLIP-seq
MIRT2427464	hsa-miR-2113	CLIP-seq
MIRT1546663	hsa-miR-2115	CLIP-seq
MIRT1546664	hsa-miR-212	CLIP-seq
MIRT2427465	hsa-miR-218	CLIP-seq
MIRT2427466	hsa-miR-2355-5p	CLIP-seq
MIRT1546670	hsa-miR-31	CLIP-seq
MIRT2427467	hsa-miR-3130-5p	CLIP-seq
MIRT902694	hsa-miR-3148	CLIP-seq
MIRT1546677	hsa-miR-3173-5p	CLIP-seq
MIRT1546678	hsa-miR-3175	CLIP-seq
MIRT1546680	hsa-miR-3179	CLIP-seq
MIRT902696	hsa-miR-3184	CLIP-seq
MIRT1546684	hsa-miR-335	CLIP-seq
MIRT1546685	hsa-miR-339-3p	CLIP-seq
MIRT1546690	hsa-miR-3613-3p	CLIP-seq
MIRT2427469	hsa-miR-371-5p	CLIP-seq
MIRT2427470	hsa-miR-371b-5p	CLIP-seq
MIRT2427471	hsa-miR-382	CLIP-seq
MIRT2427472	hsa-miR-3921	CLIP-seq
MIRT1546701	hsa-miR-3941	CLIP-seq
MIRT1546702	hsa-miR-3977	CLIP-seq
MIRT902700	hsa-miR-423-5p	CLIP-seq
MIRT1546703	hsa-miR-4258	CLIP-seq
MIRT1546704	hsa-miR-4266	CLIP-seq
MIRT1546705	hsa-miR-4278	CLIP-seq
MIRT1546706	hsa-miR-4279	CLIP-seq
MIRT1546708	hsa-miR-4291	CLIP-seq
MIRT1546709	hsa-miR-4300	CLIP-seq
MIRT2436290	hsa-miR-4304	CLIP-seq
MIRT902702	hsa-miR-4419a	CLIP-seq
MIRT1546720	hsa-miR-4436a	CLIP-seq
MIRT2427474	hsa-miR-4456	CLIP-seq
MIRT1546723	hsa-miR-4457	CLIP-seq
MIRT1546724	hsa-miR-4458	CLIP-seq
MIRT1546725	hsa-miR-4462	CLIP-seq
MIRT2427475	hsa-miR-4482	CLIP-seq
MIRT1546732	hsa-miR-4500	CLIP-seq
MIRT902706	hsa-miR-4510	CLIP-seq
MIRT2427476	hsa-miR-4522	CLIP-seq
MIRT1546738	hsa-miR-4532	CLIP-seq
MIRT1546740	hsa-miR-4640-3p	CLIP-seq
MIRT1546741	hsa-miR-4643	CLIP-seq
MIRT2427478	hsa-miR-4653-5p	CLIP-seq
MIRT1546742	hsa-miR-466	CLIP-seq
MIRT1546746	hsa-miR-4668-5p	CLIP-seq
MIRT1546747	hsa-miR-4672	CLIP-seq
MIRT1546748	hsa-miR-4684-3p	CLIP-seq
MIRT1546750	hsa-miR-4691-5p	CLIP-seq
MIRT1546751	hsa-miR-4695-5p	CLIP-seq
MIRT1546752	hsa-miR-4696	CLIP-seq
MIRT2436292	hsa-miR-4707-5p	CLIP-seq
MIRT1546758	hsa-miR-4716-3p	CLIP-seq
MIRT1546762	hsa-miR-4731-3p	CLIP-seq
MIRT2427480	hsa-miR-4766-5p	CLIP-seq
MIRT1546765	hsa-miR-4773	CLIP-seq
MIRT1546766	hsa-miR-4789-3p	CLIP-seq
MIRT1546767	hsa-miR-4789-5p	CLIP-seq
MIRT2427481	hsa-miR-4795-3p	CLIP-seq
MIRT1546768	hsa-miR-4797-5p	CLIP-seq
MIRT1546769	hsa-miR-4801	CLIP-seq
MIRT1546772	hsa-miR-503	CLIP-seq
MIRT1546776	hsa-miR-532-3p	CLIP-seq
MIRT2427482	hsa-miR-544	CLIP-seq
MIRT1546777	hsa-miR-545	CLIP-seq
MIRT1546778	hsa-miR-548a-3p	CLIP-seq
MIRT1546780	hsa-miR-548ad	CLIP-seq
MIRT1546781	hsa-miR-548ae	CLIP-seq
MIRT1546782	hsa-miR-548ah	CLIP-seq
MIRT1546783	hsa-miR-548aj	CLIP-seq
MIRT1546784	hsa-miR-548am	CLIP-seq
MIRT1546786	hsa-miR-548e	CLIP-seq
MIRT1546787	hsa-miR-548f	CLIP-seq
MIRT1546788	hsa-miR-548x	CLIP-seq
MIRT2427484	hsa-miR-593	CLIP-seq
MIRT902713	hsa-miR-625	CLIP-seq
MIRT2427485	hsa-miR-636	CLIP-seq
MIRT1546798	hsa-miR-642b	CLIP-seq
MIRT1546803	hsa-miR-920	CLIP-seq
MIRT1546804	hsa-miR-924	CLIP-seq
MIRT1546805	hsa-miR-935	CLIP-seq
MIRT2427486	hsa-miR-944	CLIP-seq
MIRT1546808	hsa-miR-98	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Repression	16439692
ETS1	Unknown	16564026
MKL1	Activation	22049076
MYB	Activation	9989795
MYBL2	Unknown	14613485
NFIC	Unknown	10082137;7504695
NFKB1	Unknown	11277268
RELA	Unknown	11277268
SP1	Unknown	10082137;10091149;10775443;12138160;16564026;7504695;7590335
SP3	Unknown	10082137
STAT6	Activation	14603527
TFAP2A	Unknown	10775443

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	IMP	8097422
GO:0001501	Process	Skeletal system development	IMP	1874719, 14976317
GO:0001503	Process	Ossification	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001568	Process	Blood vessel development	IMP	17211858
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001957	Process	Intramembranous ossification	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0002020	Function	Protease binding	IPI	19932771
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	14749390, 18375391, 20015075, 20541508, 25290767, 26848503, 32296183, 33961781
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005584	Component	Collagen type I trimer	IDA	19932771
GO:0005584	Component	Collagen type I trimer	IEA
GO:0005584	Component	Collagen type I trimer	IMP	14976317, 17576241
GO:0005584	Component	Collagen type I trimer	IPI	26848503, 28281531
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	20603131
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0007601	Process	Visual perception	IMP	17557158
GO:0007605	Process	Sensory perception of sound	IMP	17489845
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	20018240
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IEA
GO:0015031	Process	Protein transport	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030141	Component	Secretory granule	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	14976317, 15095409, 17211858, 18375391
GO:0030199	Process	Collagen fibril organization	NAS	1916105, 28281531
GO:0030335	Process	Positive regulation of cell migration	IDA	20018240
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032964	Process	Collagen biosynthetic process	IMP	15095409
GO:0034504	Process	Protein localization to nucleus	IDA	20018240
GO:0034505	Process	Tooth mineralization	IMP	17118335
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042802	Function	Identical protein binding	IDA	17211858
GO:0042802	Function	Identical protein binding	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0043588	Process	Skin development	IEA
GO:0043589	Process	Skin morphogenesis	IMP	17211858
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	20018240
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048513	Process	Animal organ development	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IMP	18553566
GO:0048731	Process	System development	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0060346	Process	Bone trabecula formation	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071306	Process	Cellular response to vitamin E	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	20018240
GO:1902617	Process	Response to fluoride	IEA
GO:1902618	Process	Cellular response to fluoride	IEA

Other IDs

• MIM: 120150
• HGNC: 2197
• e!Ensembl: ENSG00000108821

Protein

• UniProt ID: P02452
• Protein name: Collagen alpha-1(I) chain (Alpha-1 type I collagen)
• Protein function: Type I collagen is a member of group I collagen (fibrillar forming collagen).
• PDB: 1Q7D, 2LLP, 3EJH, 3GXE, 5CTD, 5CTI, 5CVA, 5CVB, 5K31, 5OU8, 5OU9, 7E7B, 7E7D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	40 → 95	von Willebrand factor type C domain	Family
  PF01391	Collagen	107 → 163	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	177 → 238	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	236 → 295	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	296 → 355	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	356 → 415	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	407 → 476	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	779 → 838	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	835 → 898	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1013 → 1080	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1076 → 1138	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1133 → 1195	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1227 → 1463	Fibrillar collagen C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
• Sequence:

  MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI
  CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPR
  GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
  MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGR
  PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
  MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
  RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP
  QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGL
  PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
  TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
  PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE
  QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
  QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD
  KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP
  PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
  AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV
  VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA
  EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGP
  VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP
  RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF
  LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR
  DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
  KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ
  TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII
  DVAPLDVGAPDQEFGFDVGPVCFL

• Sequence length: 1464

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
Abnormal bleeding	Likely pathogenic	rs1598297227	RCV000851994	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs66527965, rs67815019, rs72653173	RCV001813997 RCV001814161 RCV001814012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blue sclerae	Pathogenic	rs1057518930	RCV000415384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruising susceptibility	Likely pathogenic; Pathogenic	rs72645347	RCV000415259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2144593759, rs72656332, rs750203677, rs2509170044, rs72667022, rs72656314, rs66555264, rs1114167408, rs193922139, rs72653147, rs72667029, rs72645370, rs72667037	RCV002438893 RCV002454918 RCV002398831 RCV004313252 RCV005801734 RCV005801735 RCV004992266 RCV002350082 RCV002381264 RCV005318419 RCV006342411 RCV002325428 RCV002363171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL1A1-related disorder	Pathogenic; Likely pathogenic	rs72651631, rs72651621, rs72653142, rs66929517, rs1351742344, rs1057518930, rs2144547648, rs72651635, rs72645337, rs67507747, rs886042260, rs72654794, rs72651642, rs2509266853, rs2509166433, rs2509194098, rs112101899, rs2509180480, rs2509164332, rs2509159489, rs2509235669, rs2509208351, rs2509165452, rs2509219271, rs66523073, rs72645357, rs72654802, rs74315111, rs34940368, rs67394386, rs66555264, rs66490707, rs72648326, rs72645366, rs72645321, rs72667016, rs1131692326, rs67879854, rs193922143, rs72648343, rs72653173, rs1555572075, rs1555572239, rs72651634, rs72651640, rs1567755602, rs762780039, rs72653133, rs1598288648, rs72651641, rs72656349, rs72656351, rs1906536457, rs66494876, rs149820303	RCV005866996 RCV002291371 RCV004552047 RCV004552092 RCV005868460 RCV006270535 RCV005868419 RCV004548371 RCV004550335 RCV004725133 RCV004547659 RCV004547696 RCV005869219 RCV004550628 RCV004552486 RCV004550742 RCV004550689 RCV004552428 RCV004548965 RCV004552736 RCV004552842 RCV004554349 RCV004548997 RCV004549011 RCV004549376 RCV004549377 RCV004549378 RCV004549834 RCV004549835 RCV004551603 RCV004551602 RCV004551601 RCV004737558 RCV004722824 RCV004737557 RCV004551605 RCV004551604 RCV004737564 RCV004553128 RCV004549389 RCV005869580 RCV004737165 RCV004553178 RCV004553177 RCV004737854 RCV004722966 RCV004547777 RCV004547947 RCV004723173 RCV004549862 RCV004553530 RCV004547964 RCV004548075 RCV004548076 RCV005232203 RCV004548123 RCV004548126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	Pathogenic; Likely pathogenic	rs2509157718, rs2509248182, rs2144535840, rs72645347, rs67828806, rs74315111, rs72648326, rs72645321, rs1114167408, rs1555572239	RCV002287870 RCV002776568 RCV003322732 RCV005627208 RCV000018891 RCV001270301 RCV003313958 RCV004801922 RCV001270300 RCV003313966	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome	Pathogenic; Likely pathogenic	rs67507747, rs72645347, rs1213427451	RCV002278251 RCV002276563 RCV002279327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, arthrochalasia type	Likely pathogenic; Pathogenic	rs2509259283, rs72667022, rs72667020, rs72667019, rs72653173, rs1555571647, rs72653147, rs72667029, rs1598288593	RCV004763745 RCV000018852 RCV000018880 RCV000018893 RCV001535575 RCV005863192 RCV001535522 RCV001809680 RCV003444610 RCV001824161	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, arthrochalasia type, 2	Pathogenic	rs72667036, rs1555571647	RCV001003534 RCV005863192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, classic type	Likely pathogenic; Pathogenic	rs72645347	RCV000018884	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs67163049	RCV005901738	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fragile skin	Likely pathogenic; Pathogenic	rs72645347	RCV000415259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Increased susceptibility to fractures	Pathogenic	rs1057518930	RCV000415384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile cortical hyperostosis	Likely pathogenic; Pathogenic	rs1906659084, rs2144551547, rs2144569208, rs1567761800, rs72667031, rs72648319, rs72645331, rs72653170, rs67815019, rs72648326, rs72653173, rs1555571647, rs267604943, rs1906559620	RCV001330771 RCV002248994 RCV002248996 RCV002248997 RCV002248998 RCV002249374 RCV002247357 RCV000018889 RCV002281097 RCV001262344 RCV001535575 RCV005863192 RCV002052292 RCV001262343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joint hypermobility	Likely pathogenic; Pathogenic	rs72645347, rs1555572254	RCV000415259 RCV000626589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple epiphyseal dysplasia type 1	Pathogenic	rs1201602830	RCV001806327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs111953130	RCV005906935	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs72648315, rs2144584155, rs2144542715, rs2144547622, rs2144550759, rs902407269, rs2144534929, rs72653142, rs2144549369, rs2144560659, rs1598299070, rs1906940342, rs2144547648, rs2144550235, rs2144581910, rs2144573313, rs1275118660, rs2144588841, rs2144588834, rs72667024, rs1907593112, rs2144580715, rs2144579919, rs2144579745, rs66511271, rs72645367, rs2144570980, rs72648357, rs2144569160, rs72651626, rs72651632, rs1907108266, rs72651643, rs1906989648, rs72653130, rs1114167392, rs72653139, rs868850286, rs72667031, rs878853274, rs72654797, rs67507747, rs72645318, rs886042260, rs57377812, rs72645319, rs2509259187, rs72645357, rs72645323, rs72656314, rs2509245369, rs2509246805, rs113739104, rs74315111, rs67771061, rs67815019, rs66555264, rs72651614, rs72645366, rs72645321, rs72667036, rs1555572125, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs1555571647, rs1555571766, rs72653147, rs72651620, rs1555574151, rs72645341, rs1555572406, rs1555572316, rs72651658, rs111594467, rs1567764387, rs72656326, rs72653168, rs72645370, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs762780039, rs2586486, rs1598286543, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs72653150, rs72648352, rs868166455, rs72648321, rs72645352, rs1907330109, rs1908083033, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs72656349, rs1135401953	RCV003985853 RCV003388045 RCV001836654 RCV001795867 RCV001795870 RCV001824089 RCV001836664 RCV001836665 RCV001836666 RCV001836667 RCV005429069 RCV002276975 RCV002276920 RCV002221173 RCV002221390 RCV005235637 RCV002277761 RCV002277763 RCV002277764 RCV002277765 RCV002277766 RCV002277767 RCV002277768 RCV002277769 RCV002277770 RCV002277875 RCV002277876 RCV002277880 RCV002277881 RCV002277882 RCV002277883 RCV002277884 RCV002277886 RCV002277887 RCV002277889 RCV002277890 RCV002277891 RCV002277892 RCV002282766 RCV002302612 RCV004782320 RCV003128180 RCV000722158 RCV002278252 RCV003479089 RCV003327333 RCV003331999 RCV003479751 RCV000029586 RCV000018857 RCV000582506 RCV004587939 RCV004586164 RCV004586285 RCV002278640 RCV002278641 RCV002279243 RCV000586484 RCV002221545 RCV002279255 RCV002279254 RCV002279257 RCV002279256 RCV000511997 RCV000029551 RCV000029553 RCV000029554 RCV000029555 RCV000029556 RCV000029558 RCV000029560 RCV000029562 RCV000029563 RCV000029565 RCV000029566 RCV000029567 RCV000029571 RCV000029572 RCV000029574 RCV000029575 RCV000029576 RCV000029579 RCV000029580 RCV000029583 RCV000029584 RCV005863192 RCV002279334 RCV001535522 RCV000722159 RCV001260276 RCV004525960 RCV000589143 RCV001260291 RCV002279474 RCV002279492 RCV002279487 RCV001796185 RCV002279489 RCV004702350 RCV000722162 RCV000722161 RCV000722160 RCV000722164 RCV000722163 RCV000790420 RCV000991250 RCV000991252 RCV000991259 RCV000991251 RCV000991248 RCV000991247 RCV000991255 RCV000991257 RCV000991253 RCV000991249 RCV000991254 RCV000991258 RCV000991260 RCV000991246 RCV000991256 RCV000853536 RCV000984545 RCV002279683 RCV003117728 RCV003994205 RCV001260270 RCV001260272 RCV001260267 RCV001260266 RCV001260265 RCV001260269 RCV001260273 RCV001260271 RCV004782670 RCV003128164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 1, mild	Pathogenic; Likely pathogenic	rs72667037, rs67828806	RCV000018861 RCV000018875	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 2, thin-bone	Pathogenic	rs72656343	RCV000018876	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type I	Likely pathogenic; Pathogenic	rs1907061034, rs1907723511, rs2144534276, rs2144534686, rs2144537122, rs72656336, rs2144537730, rs72656326, rs72656323, rs2144540723, rs2144542594, rs2144546781, rs2144546898, rs2144547600, rs2144548967, rs2144550040, rs2144550692, rs1598289920, rs2144552243, rs1114167390, rs68114505, rs72651631, rs66489346, rs72651621, rs2144565471, rs72651615, rs2144565641, rs72648357, rs2144572928, rs2144579011, rs72645355, rs72645352, rs72645331, rs2144586769, rs2144587073, rs2144591295, rs2144593759, rs1598300304, rs2144537008, rs72645339, rs2144550253, rs72656341, rs2144576822, rs2144563732, rs2144594178, rs72648315, rs2144584155, rs2144588841, rs2144547622, rs2144536639, rs2144531821, rs72667028, rs2144586155, rs2144549369, rs2144581296, rs1278821174, rs755126464, rs72648314, rs2144580035, rs2144591470, rs2144576668, rs1165573890, rs2144551340, rs2144577718, rs2144579869, rs72653150, rs2144600428, rs2144542582, rs2144560147, rs2144586877, rs2144573246, rs1598285068, rs2144558687, rs2144564620, rs2144556507, rs2144575412, rs2144573120, rs2144563717, rs2144535299, rs2144593648, rs67682641, rs2144535840, rs72648348, rs2144534897, rs2144543361, rs1555572401, rs1114167374, rs72651613, rs2144584170, rs2144564549, rs1567753046, rs2144547449, rs2144563277, rs72645324, rs2144585785, rs72667027, rs72645321, rs2144561250, rs2144558735, rs2857400, rs2144560315, rs1567766329, rs1239012334, rs2144576816, rs1598299070, rs2144580791, rs2144543514, rs2144552926, rs2144539233, rs2144545179, rs72645340, rs2144578888, rs1907746069, rs2144591532, rs2144551661, rs66929517, rs72653137, rs1351742344, rs2144529623, rs1114167394, rs2144554620, rs2144540520, rs1555574493, rs1906423537, rs72667016, rs2144600020, rs2144587690, rs1598299754, rs72651620, rs2144587059, rs1598298699, rs112830882, rs2144537204, rs72653168, rs2144554325, rs2144561474, rs2144563856, rs67891210, rs141726413, rs67163050, rs2144542880, rs2144575934, rs1057518930, rs1555575889, rs2144586064, rs1906940342, rs2144594663, rs2144600691, rs1598286050, rs1598293646, rs68062484, rs2144592402, rs2144578905, rs748550422, rs2144594577, rs2144558383, rs72651632, rs2144548099, rs2144547648, rs2144569036, rs2144594472, rs72667030, rs2144593670, rs72645345, rs2144587964, rs2144585835, rs2144592516, rs2144542232, rs72667031, rs2144542850, rs2144594870, rs1598284183, rs1114167405, rs2144593675, rs72651639, rs2144590955, rs66511271, rs1906989648, rs2509157718, rs2509249796, rs750203677, rs2509209539, rs2509222123, rs72645329, rs2509256188, rs2509259501, rs2509255211, rs67047253, rs2509161596, rs2509256132, rs1555571874, rs2509188882, rs2509180826, rs2509159584, rs373474549, rs2509155661, rs2509157160, rs113984451, rs2509166330, rs1555572254, rs72653140, rs2509188024, rs2509194385, rs72651623, rs1402406091, rs2509224398, rs72645364, rs67569268, rs67047255, rs72667038, rs72667034, rs72667033, rs2509247867, rs2509248128, rs1598301619, rs779952705, rs2509177392, rs2509193608, rs2509245447, rs794726873, rs72645353, rs2509197207, rs2509220522, rs2509259293, rs2509182335, rs72651635, rs797045033, rs2509177384, rs2509187318, rs2509227665, rs2509253904, rs2509190728, rs2509177625, rs2509226407, rs2509205495, rs2509156997, rs2509183659, rs2509258018, rs2509157723, rs2509219436, rs1906821006, rs2509174492, rs199510546, rs2509218743, rs2509231687, rs369612664, rs1248406777, rs2509156659, rs2509258061, rs2509258234, rs2509184342, rs72648347, rs2509200404, rs2509167461, rs2509169901, rs2509222757, rs2509231851, rs2509219167, rs2509246578, rs2509258453, rs72645337, rs2509207852, rs2509240749, rs72648344, rs2144564751, rs2509228482, rs2509169974, rs2509167080, rs2509160982, rs2144593662, rs2509152668, rs2509236473, rs2509209886, rs2509215666, rs2509193629, rs2509236663, rs2509188207, rs2509177024, rs2509177043, rs74315144, rs2509156967, rs267604943, rs2509242096, rs2509209764, rs1298621011, rs2509181824, rs2509190517, rs2509183506, rs2509256204, rs2509181838, rs1555574641, rs2509172852, rs2509217431, rs878853274, rs72653138, rs2509163856, rs2509253797, rs2509201078, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs886041866, rs886042286, rs2509259817, rs72653175, rs886042603, rs72654794, rs72651642, rs193922155, rs72656344, rs2509190543, rs72648360, rs2509206975, rs2509160384, rs1171968124, rs2509248258, rs2509242047, rs2509193873, rs2509227622, rs2509161402, rs2509169855, rs2509174225, rs2509241757, rs2509209389, rs2509165688, rs2509266699, rs2509266618, rs2509162830, rs2509194435, rs1420322445, rs2509256121, rs2509205431, rs2509231757, rs2509163875, rs2509206593, rs2509205624, rs2509226076, rs1223061614, rs2509208266, rs2509240583, rs762653652, rs2509162962, rs1906695650, rs72654801, rs2509180833, rs72651666, rs68181175, rs72648335, rs72648324, rs1907674328, rs72653171, rs2509222184, rs2509188732, rs2509197349, rs2509155514, rs2509222036, rs2509179683, rs2509192021, rs2509190985, rs2509157043, rs1555574177, rs2509227653, rs2509190507, rs2509206647, rs2509246788, rs2509201973, rs2509253751, rs2509193893, rs112101899, rs2509184226, rs2509187069, rs2509246983, rs2509192248, rs2509259098, rs201398339, rs2509235377, rs66721653, rs2509258309, rs2509255422, rs2509186079, rs2509166957, rs2509259051, rs2509222638, rs2509197128, rs72667022, rs2509197765, rs2509235451, rs2509187339, rs2509184739, rs193922147, rs2509221079, rs2509254137, rs2144579919, rs112838331, rs2509259283, rs3205509, rs2509266473, rs1439626978, rs2509177148, rs1429658299, rs2509185694, rs2509165406, rs2509226176, rs2144579715, rs2509248369, rs2509173100, rs2509222552, rs2509224349, rs1555571766, rs2509161707, rs66929519, rs2509208351, rs760860681, rs72648368, rs72653136, rs72656352, rs72645365, rs72645357, rs72656330, rs72667037, rs72654802, rs72653178, rs72656353, rs67828806, rs72656314, rs72645347, rs66490707, rs72653170, rs2509253729, rs2509246805, rs2509249517, rs74315111, rs72648337, rs1555572249, rs67771061, rs1114167406, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651645, rs1114167389, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645334, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667012, rs1114167384, rs765659555, rs1131692326, rs1135401953, rs1555573313, rs72667014, rs1555573621, rs1260429820, rs67879854, rs1555574143, rs72648320, rs193922139, rs193922143, rs193922144, rs193922149, rs193922151, rs1328384458, rs72648343, rs1555574516, rs72653173, rs193922157, rs72667023, rs193922158, rs72645328, rs72656343, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555572456, rs1555573484, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72653151, rs72653147, rs1213427451, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555575370, rs1555575456, rs1555572315, rs72645361, rs72651634, rs139593707, rs1555575425, rs1555572316, rs72651640, rs867628651, rs72653155, rs138570309, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555572759, rs1555574158, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1555572161, rs1567752926, rs1567752998, rs1567753329, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567753699, rs1567754277, rs72645370, rs1567762257, rs1567766338, rs72648346, rs1567757138, rs1567754589, rs1598288342, rs762780039, rs72653133, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1567762262, rs1473458290, rs1598285125, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1598290382, rs150572711, rs868166455, rs72648321, rs1598288648, rs1598288967, rs1598298292, rs72645315, rs762979302, rs72653156, rs67368147, rs1598295066, rs1598288002, rs1598289247, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs1907889665, rs1907921633, rs1908087291, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs72645338, rs1907787005, rs72653141, rs1907512918, rs72651648, rs1907516553, rs1907672538, rs72656349, rs1906565901, rs1906658881, rs1906818829, rs1906846472, rs1907110994, rs1203106659, rs1906842230, rs1907332311, rs1907793241, rs1906853874, rs1906488067, rs1906536457, rs1906868595, rs1906936483, rs72651657, rs1598292524, rs1907456419, rs1907543361, rs776611767, rs1906559620, rs1906773628, rs1907020116, rs1907143600, rs1906767501, rs1906866028, rs1907593112, rs72667017, rs1907417140, rs66494876, rs1907854360, rs72667007	RCV001320405 RCV001330773 RCV001373665 RCV001387168 RCV001388307 RCV001382246 RCV001382247 RCV001382248 RCV001389975 RCV001387169 RCV001390069 RCV001386908 RCV001383105 RCV001382313 RCV001383242 RCV002472334 RCV001381575 RCV001384849 RCV001388491 RCV001381923 RCV001385148 RCV001385149 RCV001385151 RCV003517365 RCV001387405 RCV001387610 RCV001387241 RCV001387571 RCV001388122 RCV001388124 RCV001388662 RCV001385345 RCV001383972 RCV001387639 RCV001386077 RCV001381952 RCV001389739 RCV002032566 RCV002032604 RCV002032603 RCV001866076 RCV001866249 RCV001882757 RCV001729994 RCV003631225 RCV003517348 RCV003517349 RCV003517350 RCV001868894 RCV001806309 RCV001806446 RCV001823557 RCV001823795 RCV001869840 RCV001962134 RCV001887796 RCV001986957 RCV001901289 RCV001891568 RCV002046149 RCV001950624 RCV001872449 RCV001999858 RCV002021934 RCV001939382 RCV001941716 RCV001941735 RCV001941828 RCV001888800 RCV001930458 RCV001993859 RCV001932988 RCV001946768 RCV001950937 RCV001946780 RCV001946783 RCV001947880 RCV001893320 RCV001953757 RCV001953875 RCV001912444 RCV001914424 RCV001958947 RCV001942481 RCV001910530 RCV001944719 RCV001927220 RCV001887151 RCV001982320 RCV001988650 RCV001909749 RCV001972109 RCV001884687 RCV001874335 RCV001867411 RCV001894604 RCV001874377 RCV002007244 RCV002035317 RCV001922582 RCV002000147 RCV001994814 RCV001994619 RCV002000039 RCV002000134 RCV001890294 RCV001939928 RCV002014723 RCV001921667 RCV002007487 RCV001994472 RCV002007540 RCV002007623 RCV001932679 RCV001932711 RCV001962897 RCV001918022 RCV001939495 RCV001939550 RCV001941981 RCV001989180 RCV001879067 RCV001941521 RCV001946975 RCV001946807 RCV001972394 RCV001863955 RCV002028345 RCV001962984 RCV001963005 RCV001946600 RCV001970081 RCV002014190 RCV001931600 RCV001948462 RCV001948473 RCV001948489 RCV001971974 RCV001952615 RCV001952620 RCV001931651 RCV001971992 RCV001948547 RCV001974991 RCV001956086 RCV001972748 RCV001972749 RCV001972783 RCV002008660 RCV001941513 RCV001939139 RCV001953677 RCV002047303 RCV002047521 RCV001941098 RCV001891906 RCV001956470 RCV001956530 RCV001963267 RCV001930294 RCV001913480 RCV001987245 RCV002010948 RCV001892165 RCV001886252 RCV001918522 RCV001888079 RCV001983866 RCV001916472 RCV002027306 RCV002086743 RCV002225154 RCV002226989 RCV003631230 RCV002472332 RCV003631231 RCV003094078 RCV002260953 RCV002266131 RCV002272831 RCV002273185 RCV005095996 RCV003096249 RCV004584232 RCV003097736 RCV002288400 RCV002289001 RCV003631263 RCV002466808 RCV002466865 RCV002467484 RCV002467485 RCV002467486 RCV002468665 RCV002471342 RCV002472089 RCV002472216 RCV002470273 RCV002472333 RCV002472335 RCV002472336 RCV002472337 RCV003050484 RCV003064465 RCV003064466 RCV003064467 RCV003050485 RCV003041315 RCV003041316 RCV003041317 RCV003050486 RCV003064468 RCV003064469 RCV003064470 RCV003050487 RCV003041318 RCV003041319 RCV003041320 RCV003050488 RCV003064472 RCV003050489 RCV003064473 RCV003064475 RCV003064476 RCV003064477 RCV003072872 RCV003072873 RCV003087405 RCV001852105 RCV003517139 RCV003112382 RCV003112385 RCV003112387 RCV003112388 RCV002617202 RCV002801974 RCV002806911 RCV002833180 RCV000191071 RCV002791761 RCV002843653 RCV002856748 RCV002856124 RCV002829670 RCV002846292 RCV002856623 RCV002834647 RCV002851633 RCV002851495 RCV002861866 RCV002862361 RCV002866780 RCV002863357 RCV002866798 RCV002889574 RCV002866895 RCV002881466 RCV002885085 RCV002881701 RCV002847588 RCV002853476 RCV002876664 RCV002899050 RCV002858448 RCV002867450 RCV002881973 RCV002891195 RCV002867605 RCV002867660 RCV002882075 RCV002903410 RCV002918367 RCV002914064 RCV002918750 RCV002994692 RCV002982165 RCV002995418 RCV002999374 RCV002991509 RCV003010240 RCV003021543 RCV003022835 RCV003016291 RCV003028280 RCV003031544 RCV003014779 RCV003031584 RCV003046232 RCV003037774 RCV003014709 RCV003022394 RCV003045792 RCV003017193 RCV003019373 RCV003031730 RCV003019867 RCV003027620 RCV003030557 RCV003055033 RCV003034874 RCV003034928 RCV003027965 RCV003039288 RCV003054457 RCV003036110 RCV003044639 RCV003041109 RCV003048110 RCV003048151 RCV003044967 RCV000225140 RCV003126321 RCV003140532 RCV003142472 RCV003517449 RCV003224942 RCV001859490 RCV000293333 RCV000818022 RCV000631490 RCV000256401 RCV002519062 RCV000289700 RCV003445221 RCV003517473 RCV005252856 RCV002521935 RCV000358677 RCV003333666 RCV003384290 RCV003444020 RCV003494495 RCV003517891 RCV003517955 RCV003518032 RCV003517520 RCV003517523 RCV003517524 RCV003517564 RCV003517917 RCV003517583 RCV003517585 RCV003517970 RCV003517898 RCV003517927 RCV003517959 RCV003518309 RCV003518100 RCV003518152 RCV003518266 RCV003518184 RCV003518316 RCV003518402 RCV003518654 RCV003518461 RCV003516754 RCV003516759 RCV003518716 RCV003518742 RCV003516737 RCV003516774 RCV003518808 RCV003518809 RCV003518810 RCV003518811 RCV003518812 RCV003518813 RCV003518814 RCV003518815 RCV003518816 RCV003518817 RCV003518818 RCV003516771 RCV003516927 RCV003516928 RCV003516958 RCV003517087 RCV003516948 RCV003516873 RCV003516977 RCV003516859 RCV003516865 RCV003516930 RCV003516933 RCV003517654 RCV003517655 RCV003517740 RCV003517820 RCV003517768 RCV003517769 RCV003517832 RCV003517719 RCV003517856 RCV003517826 RCV003517851 RCV003631375 RCV003631656 RCV003631619 RCV003631741 RCV003631780 RCV003631852 RCV003631774 RCV003631819 RCV003631839 RCV003631856 RCV003631869 RCV003631928 RCV003631865 RCV003631900 RCV003631939 RCV003631957 RCV003631876 RCV003631894 RCV003631913 RCV003631976 RCV003631996 RCV003631994 RCV003632045 RCV003632078 RCV003632097 RCV003632101 RCV003632017 RCV003632064 RCV003632037 RCV003632144 RCV003632194 RCV003632277 RCV003632211 RCV003632248 RCV003632199 RCV003632437 RCV003632438 RCV003632439 RCV003632741 RCV003632742 RCV003867369 RCV005102953 RCV003985991 RCV003989392 RCV003993584 RCV000018826 RCV002513110 RCV001236925 RCV000018848 RCV000018850 RCV001851923 RCV000692051 RCV004558269 RCV001385346 RCV000018863 RCV000548768 RCV001245193 RCV003517128 RCV001242940 RCV000018878 RCV000631472 RCV000018887 RCV000685879 RCV004018642 RCV004566569 RCV005101989 RCV004588582 RCV004595312 RCV002523919 RCV000490653 RCV002524640 RCV003517190 RCV001851156 RCV003333748 RCV000490685 RCV000490654 RCV003517203 RCV005090986 RCV000490761 RCV000490719 RCV000490673 RCV000490738 RCV000490662 RCV000490739 RCV000490747 RCV001037391 RCV000490672 RCV000490688 RCV000490661 RCV000490741 RCV000490735 RCV001213033 RCV000490694 RCV000490651 RCV000490725 RCV000548232 RCV000490708 RCV000490722 RCV001245339 RCV000490743 RCV000490727 RCV000490706 RCV000490734 RCV000490698 RCV000490723 RCV000490684 RCV000490659 RCV000490680 RCV000490754 RCV002527010 RCV000490655 RCV000490756 RCV000490713 RCV005090985 RCV000490762 RCV000490721 RCV000490742 RCV000490675 RCV000490718 RCV000490740 RCV000490695 RCV000490652 RCV000490693 RCV000490656 RCV000490728 RCV000490733 RCV000490703 RCV000490687 RCV000495593 RCV000496049 RCV000496233 RCV000505628 RCV000505621 RCV001389862 RCV001065243 RCV000707194 RCV003517215 RCV001043307 RCV000688895 RCV001807741 RCV005055525 RCV002513241 RCV000706566 RCV000804992 RCV000547846 RCV000803118 RCV000631493 RCV000532521 RCV000551341 RCV001852590 RCV000490677 RCV000798967 RCV001852591 RCV000552645 RCV000533081 RCV000550757 RCV000547028 RCV000528176 RCV000543111 RCV000551842 RCV000533873 RCV000560259 RCV000539578 RCV000558433 RCV000557376 RCV000552088 RCV000554808 RCV000525359 RCV000558998 RCV000538278 RCV000531574 RCV000555528 RCV000552461 RCV000549685 RCV000527395 RCV000540153 RCV000559468 RCV000541545 RCV000529089 RCV000546354 RCV000552075 RCV000534961 RCV000526144 RCV000556762 RCV000554556 RCV000542101 RCV000533017 RCV000539052 RCV000529907 RCV000526231 RCV000538665 RCV000534334 RCV000545904 RCV000545135 RCV000560922 RCV000631486 RCV000802325 RCV005420211 RCV004767422 RCV001860110 RCV000591312 RCV001215501 RCV001062270 RCV005420217 RCV001860228 RCV000631474 RCV005091826 RCV001220819 RCV000689473 RCV003517255 RCV000631462 RCV000631482 RCV000631492 RCV000631491 RCV000631471 RCV000631463 RCV000631496 RCV000631465 RCV000631467 RCV000631497 RCV000631468 RCV000631500 RCV000631473 RCV000631476 RCV000631480 RCV000631484 RCV000631487 RCV000631483 RCV000631479 RCV000690534 RCV000659359 RCV000704508 RCV000701852 RCV000704055 RCV000706274 RCV000705317 RCV000697550 RCV000695888 RCV000687601 RCV000688236 RCV000697699 RCV000700462 RCV000703460 RCV000693048 RCV000704376 RCV000704512 RCV000703698 RCV000700568 RCV000685043 RCV000707513 RCV000705639 RCV000705305 RCV000697426 RCV000690720 RCV000700526 RCV000686962 RCV000689406 RCV000695079 RCV000685308 RCV000693485 RCV000698796 RCV000703850 RCV000700349 RCV000702474 RCV001229746 RCV001868989 RCV000735822 RCV000761564 RCV000853622 RCV003631162 RCV000786926 RCV001066920 RCV000818221 RCV000797587 RCV000811744 RCV000820796 RCV000799850 RCV000793975 RCV000808112 RCV000808139 RCV000801597 RCV000822393 RCV000822609 RCV000792555 RCV000824299 RCV000820173 RCV000822219 RCV000822915 RCV000803055 RCV000814019 RCV000816871 RCV000810522 RCV000793255 RCV000805862 RCV000817116 RCV000804013 RCV000813208 RCV000823839 RCV000815634 RCV000800942 RCV001858505 RCV002226428 RCV003631165 RCV000984474 RCV001387572 RCV000989943 RCV000989944 RCV000989948 RCV000989949 RCV000989950 RCV000989951 RCV000991296 RCV005092988 RCV000995512 RCV001869431 RCV001385147 RCV005093018 RCV001860595 RCV003631173 RCV001057596 RCV001055118 RCV001044363 RCV001056673 RCV001058312 RCV001059157 RCV001056138 RCV001035902 RCV001035598 RCV001044134 RCV001048795 RCV001058870 RCV001067373 RCV001054858 RCV001047662 RCV001071028 RCV001048130 RCV001070529 RCV001065365 RCV001039464 RCV001065490 RCV001038837 RCV001042084 RCV001065011 RCV001051120 RCV001039589 RCV001037422 RCV001065489 RCV001067208 RCV001061299 RCV001051200 RCV001048044 RCV001056827 RCV001052756 RCV001072096 RCV001063643 RCV001054386 RCV002471036 RCV005093450 RCV001089659 RCV002555943 RCV005093456 RCV001175159 RCV003163499 RCV002560234 RCV001220617 RCV001222058 RCV001225058 RCV001215494 RCV001214209 RCV001220253 RCV001214471 RCV001206187 RCV001209715 RCV001213257 RCV001201519 RCV001203335 RCV001218519 RCV001219274 RCV001225554 RCV001225371 RCV001237624 RCV001236361 RCV001237216 RCV001226870 RCV001236885 RCV001237416 RCV001228084 RCV001235657 RCV001248518 RCV001225334 RCV001229866 RCV001232264 RCV001253008 RCV001253438 RCV001253294 RCV003517320 RCV001262604 RCV001880201 RCV002222200 RCV005439217 RCV002543013	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type III	Likely pathogenic; Pathogenic	rs68114505, rs2144571189, rs66523073, rs72648348, rs2144594870, rs1598284183, rs2509177731, rs2509161006, rs2509152697, rs67507747, rs72645318, rs2509183476, rs2509182456, rs2509231370, rs2509241842, rs760860681, rs67368147, rs72645357, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs1906960583, rs72656314, rs72645320, rs67394386, rs67445413, rs1114167390, rs72651645, rs1114167388, rs1114167409, rs1131692320, rs193922143, rs1555572401, rs66664580, rs72651658, rs72645370, rs72648330, rs1598299275, rs762979302, rs1906537608, rs72651641, rs112274185, rs72667017, rs66494876	RCV002250757 RCV001810323 RCV003333183 RCV005439018 RCV002250850 RCV005252144 RCV002472340 RCV002472341 RCV002472342 RCV005895447 RCV004796141 RCV003326701 RCV003315186 RCV004548626 RCV004548628 RCV003985991 RCV000018829 RCV000018837 RCV000018853 RCV004795929 RCV000018865 RCV000018871 RCV000018872 RCV000018873 RCV000018877 RCV005252113 RCV000018892 RCV005604815 RCV000490696 RCV000490749 RCV000490759 RCV000490715 RCV000490745 RCV000490748 RCV000496033 RCV002470719 RCV002250652 RCV006270391 RCV005627108 RCV002250685 RCV001788353 RCV005438925 RCV002250711 RCV005604801 RCV005438938 RCV002250721 RCV005629587 RCV001261594 RCV002222200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta with normal sclerae, dominant form	Likely pathogenic; Pathogenic	rs2144534276, rs72651615, rs72645352, rs2144537008, rs2144549155, rs1598299070, rs72667016, rs1598288648, rs72667031, rs1598284183, rs2144563843, rs2509177392, rs878853274, rs2509253688, rs67507747, rs72645318, rs2509241842, rs72651642, rs867267949, rs2509217288, rs72653167, rs68181175, rs2509152842, rs760860681, rs66721653, rs67368147, rs72653169, rs72645357, rs72654802, rs67682641, rs72653131, rs67364703, rs72645347, rs72651618, rs66490707, rs1057518930, rs1114167403, rs34940368, rs1114167402, rs72656338, rs67394386, rs67693970, rs72651661, rs72651645, rs72651614, rs72648322, rs72645366, rs1131692326, rs1260429820, rs1328384458, rs193922154, rs1298621011, rs1555574151, rs72653133, rs72648313, rs72656351, rs72645369, rs1906940130, rs1907516553, rs1907672538, rs1203106659, rs72667017, rs66494876	RCV005438984 RCV002283548 RCV004770137 RCV005604806 RCV001808052 RCV002250781 RCV004770234 RCV002244105 RCV005439068 RCV005252144 RCV002251238 RCV005604811 RCV001808584 RCV003152830 RCV005895447 RCV004796141 RCV005439117 RCV000490669 RCV003314265 RCV003314335 RCV003384288 RCV005604814 RCV003985011 RCV003985991 RCV000018827 RCV000490665 RCV000018836 RCV000490676 RCV004795929 RCV005627098 RCV000490682 RCV000018882 RCV001198512 RCV000018886 RCV000018888 RCV001198517 RCV000490689 RCV000490717 RCV000490692 RCV000490710 RCV001330770 RCV000490757 RCV000490668 RCV005420206 RCV002283484 RCV000490729 RCV004596228 RCV000490671 RCV005627101 RCV003326449 RCV005627103 RCV002470720 RCV003326451 RCV005420210 RCV000789028 RCV002470982 RCV005604802 RCV003326535 RCV001198335 RCV001196899 RCV001197453 RCV001330772 RCV001261594 RCV002222200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta, perinatal lethal	Pathogenic; Likely pathogenic	rs2144530119, rs72645355, rs67965462, rs2144576696, rs2144543339, rs1201602830, rs2144554674, rs2144531133, rs2144542487, rs72648332, rs1404470949, rs2144556146, rs2144573313, rs1598284183, rs2144564489, rs72656319, rs2509256363, rs2509159786, rs1907549643, rs72645318, rs2509197106, rs2509182695, rs1907674328, rs760860681, rs72645333, rs72648363, rs72651651, rs72653137, rs72653136, rs72653143, rs72653152, rs72653154, rs72653172, rs72654797, rs72656303, rs72656306, rs72656324, rs72656332, rs2144534312, rs72651646, rs72656330, rs66929517, rs72656321, rs72648333, rs72645350, rs72654802, rs72653166, rs2144577336, rs66527965, rs72651653, rs72648356, rs72653178, rs72651657, rs2509182346, rs2509178555, rs2509209662, rs74315111, rs1064796200, rs72648326, rs72645366, rs1555574249, rs72648343, rs72651634, rs398122835, rs397514672, rs1567755602, rs72667014, rs67368147, rs1598293646, rs1907108266, rs66494876	RCV001376027 RCV001542694 RCV001542610 RCV001542692 RCV002290726 RCV002227560 RCV002264822 RCV002264823 RCV002264824 RCV001808843 RCV001822978 RCV002271675 RCV002225061 RCV005252144 RCV002278850 RCV002290364 RCV002466942 RCV003219187 RCV003227558 RCV004796141 RCV003384289 RCV004548629 RCV005415484 RCV003985991 RCV000018825 RCV000018828 RCV000018830 RCV000018831 RCV000018832 RCV000018833 RCV000018834 RCV000018835 RCV000018838 RCV000018839 RCV000018840 RCV000018841 RCV000018842 RCV000018843 RCV000018849 RCV000018851 RCV000018854 RCV000018855 RCV000018859 RCV000018860 RCV000018862 RCV004795929 RCV000018864 RCV000018866 RCV000018867 RCV000018868 RCV000018870 RCV005438368 RCV000018879 RCV004515774 RCV004595308 RCV004595385 RCV002260513 RCV000623236 RCV001542609 RCV004760530 RCV001542693 RCV002264705 RCV004767322 RCV001251156 RCV000034354 RCV000034355 RCV006249676 RCV005871057 RCV001822862 RCV001003413 RCV001263481 RCV001280841 RCV002222200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OSTEOGENESIS IMPERFECTA, TYPE IIC	Pathogenic	rs72656331	RCV000018858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta, type III/IV	Likely pathogenic	rs66527965	RCV000018856	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopenia	Pathogenic	rs1057518930	RCV000415384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs2144579715, rs2509186079, rs72667020	RCV005919359 RCV005934627 RCV005934694 RCV005887563	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Phenylketonuria	Likely pathogenic	rs2144563979	RCV001806326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postmenopausal osteoporosis	Pathogenic	rs72648357, rs72667023	RCV001526509 RCV001526512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reduced bone mineral density	Pathogenic	rs1555572254	RCV000626589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs2144569208	RCV005930050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome type 2	Pathogenic	rs72667036	RCV004767298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs72651644, rs72648321	RCV005901693 RCV005912104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs72645364	RCV005930325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wiedemann-Rautenstrauch-like progeroid syndrome	Pathogenic	rs72667007	RCV001291257	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC DISSECTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE INSUFFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone mineral density variation quantitative trait locus	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAFFEY DISEASE	—	ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL DISC DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL EHLERS-DANLOS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL1A1-RELATED EHLERS-DANLOS SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL1A1-related osteogenesis imperfecta	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL CONGENITAL HYPEROSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOFIBROSARCOMA PROTUBERANS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION OF AORTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS AND OSTEOGENESIS IMPERFECTA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 7A	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, cardiac valvular type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, classic type, 1	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos/osteogenesis imperfecta syndrome	Conflicting classifications of pathogenicity	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEISHMANIASIS, CUTANEOUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATION OF AURICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATERNAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOSAL FIBROSIS, INCLUDING OF TONGUE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOUS FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 2	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 4	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta, Dominant	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, DOMINANT PERINATAL LETHAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE 2A	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE 3	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE II	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE III	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE IV	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS, POSTMENOPAUSAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC REGURGITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sellar metastasis from primary bronchial carcinoid tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30732676		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	31732966		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	16730481		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16681596, 28815373		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	30272346		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	26818109		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	26918470	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	CTD_human_DG	8757037		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	31725165		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	32234057	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31428151		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	37640670	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	CTD_human_DG	21216836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	32386768	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30061164		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22736089, 34290266	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	LHGDN	17876648		★☆☆☆☆ Found in Text Mining only
Arthrochalasia Ehlers-Danlos syndrome	Arthrochalasia Ehlers-Danlos Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	LHGDN	17876648		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	19110771		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30361541		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32512817	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36834879	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	25521223	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35937806	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24599807, 29245016, 29754423		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34100729	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34332113, 37280612	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	25055964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	GENOMICS_ENGLAND_DG	1867198		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	BEFREE	28102596		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	30670912		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	36759514	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	LHGDN	12803121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral congenital dislocation of hip	Congenital Hip dislocation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	38041174	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	GENOMICS_ENGLAND_DG	25845371		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	35346302	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11316004, 11547832, 22174012, 27549894, 28173822, 30614853, 32519829, 32730936	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	16263577		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	27549894		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	10025922, 15466008, 23692737, 32519829, 40332270	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	18068538		★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	16731589	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23582094	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26277786	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17903305, 21791674, 27000374, 29807221, 29906404, 30416655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	17903305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17903305, 21791674, 28634007, 29906404, 30237810, 34541602, 35650297, 35698915, 35819135, 36755123, 37021816	Associate	★☆☆☆☆ Found in Text Mining only
Bruck syndrome	Bruck Syndrome	BEFREE	22085994, 24767406		★☆☆☆☆ Found in Text Mining only
Bruck syndrome 1	Bruck syndrome	Pubtator	24767406	Associate	★☆☆☆☆ Found in Text Mining only
Caffey disease	Caffey Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	18798308	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	8348155		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29720137, 33035117	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24552139, 27831650, 27853186, 28258914, 28423507, 34007838, 34571852, 34772924, 34810266, 35650297, 39344331	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	28634007	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28258342, 29568927		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31731384	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32173982	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16707423, 34598322	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28258342, 36085041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23354471		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29377150		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25371518	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	27017522	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26973327	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38123132	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	CTD_human_DG	25055964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Extrahepatic	Cholestasis	CTD_human_DG	28789951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Disease	Chronic disease	Pubtator	32006713	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26995661		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	19110771		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15081423		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	20388698		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28590037		★☆☆☆☆ Found in Text Mining only
Classical Ehlers-Danlos syndrome	Classical-Like Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip	Cleft lip	Pubtator	25562121, 34032749	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30643458, 31492296		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31612481	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29393423, 29504907, 30132520		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24023782, 29504907, 32323816, 32945508, 33650641, 33670920, 34814249	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29393423, 30132520	Stimulate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	33451138	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	27044453		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	LHGDN	18550494		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26679756		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	22085994		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	19341834		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	19341834, 23941072, 9295084		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23459615		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	16705691, 27294639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective tissue disease	Pubtator	27484908	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31812227		★☆☆☆☆ Found in Text Mining only
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	BEFREE	15864348, 17309652, 18704262, 21249479, 21567126, 24390061, 31288248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	UNIPROT_DG	15864348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	LHGDN	18704262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	GENOMICS_ENGLAND_DG	27011056, 8100209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	16009674		★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	22523339		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10743824, 15621207, 15880349, 17187661, 25456297, 26861791, 29088884, 29898378, 9811048		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	15965952		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentin Dysplasia	Dentin dysplasia	Pubtator	26694865	Associate	★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	11286811, 28498836, 29575674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis Imperfecta	Dentinogenesis imperfecta	Pubtator	23227268, 26627451, 28498836, 30614853	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	10072161, 10565681, 10963386, 11329146, 11420709, 12034531, 12641779, 12786837, 14643521, 15735689, 16040406, 16980946, 17431412, 17478383, 17950782, 18069662, 18253748, 21111450, 22842571, 25081750, 26261653, 27806849, 28150334, 29955147, 30187166, 8988177, 9739023, 9771975, 9790508		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	LHGDN	12034531, 12127408, 17950782		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	10072161, 10565681, 10963386, 11272901, 11329146, 11420709, 11435686, 12034531, 12641779, 12660034, 12786837, 14633610, 14643521, 15735689, 16040406, 16126884, 16640548, 16681596, 16731589, 16980946, 17431412, 17478383, 17950782, 18069662, 18253748, 19016705, 19635106, 19663837, 20061935, 21111450, 21128251, 21484928, 21570152, 22153773, 22523339, 22780227, 22842571, 23207290, 23347652, 23922791, 24173542, 25081750, 25683993, 26261653, 26488716, 27806849, 28150334, 29955147, 30155908, 30187166, 30874910, 8988177, 9739023, 9771975, 9790508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatofibrosarcoma protuberans	Dermatofibrosarcoma Protuberans	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	Pubtator	40140985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	9833939		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	20617897	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25502582, 9833939		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24746387	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25371518, 35281591	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26847698, 9833939		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24746387		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	32993645	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	8702443		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	CTD_human_DG	8757037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dupuytren Contracture	Dupuytren contracture	Pubtator	26458763	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	33451138	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10073586, 10739762, 13431894, 15864348, 17078022, 20087402, 21344539, 21801164, 22174522, 22570641, 23047998, 23522764, 23735642, 24389367, 24715559, 24891183, 24964776, 28668235, 6876111, 9295084		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	23418565		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	32269565	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
EDS VIIB	Ehlers-Danlos syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	11577371, 11992482, 16816023, 17118335, 1990839, 2049575, 21801164, 26799614, 27023906, 28102596, 28261977, 28436160, 31239369, 31531849, 31794058		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	15728585, 16272059, 16407265		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	25845371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	Arthrochalasia Ehlers-Danlos syndrome	BEFREE	1867198		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	Arthrochalasia Ehlers-Danlos syndrome	ORPHANET_DG	1867198, 9295084		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	Arthrochalasia Ehlers-Danlos syndrome	GENOMICS_ENGLAND_DG	14630726, 1867198, 27011056, 8100209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	Arthrochalasia Ehlers-Danlos syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	Arthrochalasia Ehlers-Danlos syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	Ehlers-Danlos Syndrome	ORPHANET_DG	10739762		★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	UNIPROT_DG	10739762, 17211858		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	14630726, 1867198		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	BEFREE	1905723		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32641130	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26935598		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36232817	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia-Myalgia Syndrome	Eosinophilia	BEFREE	8230009, 9076948		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	LHGDN	12787275		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26727275		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33543230	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35067492, 36238478, 38401086	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	27484908	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30670912		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fatty Liver Disease	Fatty Liver	BEFREE	24861026		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	18089612		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	22901846, 29747655		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10565681, 11329146, 30877273		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	28902784		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	21863215, 24239723, 24321339, 26396155		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27445100, 28107589, 28849131, 28919164, 29160747, 29934723, 29976890, 30369082, 30522100, 31476284		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30921378		★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	11272901	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	25958000	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	37907428	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	10072161, 10565681, 10963386, 11272901, 11329146, 11420709, 11435686, 12034531, 12641779, 12660034, 12786837, 14633610, 14643521, 15735689, 16040406, 16126884, 16634907, 16640548, 16681596, 16731589, 16980946, 17431412, 17478383, 17950782, 18069662, 18253748, 19016705, 19635106, 19663837, 20061935, 21111450, 21128251, 21484928, 21570152, 22153773, 22523339, 22780227, 22842571, 23207290, 23347652, 23922791, 24108432, 24173542, 25081750, 25683993, 26261653, 26488716, 27806849, 28150334, 29955147, 30155908, 30187166, 30874910, 8988177, 9739023, 9771975, 9790508		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27484908, 29411011		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	27484908	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	27484908	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	26988898	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252, 25324685, 25669751, 26988898	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	25324685, 25669751		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32647207, 34875133	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31104065, 35789341	Associate	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	16731589	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30614853, 31363794, 32730936	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	31686862		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	1967900, 31876392, 35855543, 37678008	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31902369, 35645616, 36303443, 39563337	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	36303443	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	21335463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	33161638, 40598578	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	33161638	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36131254	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	26432670, 27582029		★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
High bone mass osteogenesis imperfecta	High Bone Mass Osteogenesis Imperfecta	Orphanet			★☆☆☆☆ Found in Text Mining only
Hip Dislocation, Congenital	Congenital Hip dislocation	BEFREE	19341834, 9295084		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypermobility syndrome	Hypermobility Syndrome	BEFREE	29502568		★☆☆☆☆ Found in Text Mining only
Hyperostosis Cortical Congenital	Cortical congenital hyperostosis	Pubtator	15864344, 15864348, 21567126, 31288248, 34272483, 38154004	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	30201326		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	30614853	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	11682445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24599807, 26608562		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperuricemia	Hyperuricemia	BEFREE	21594610, 31407397		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	26432670, 39276275	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	37183013	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	33261612, 39755652	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23965235, 30504760	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28258342	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	16521042		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27769060, 29144435, 29568927, 33672678, 37907428	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29568927		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29995938		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	26403314, 28634007		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23949819		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	14672895	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26924131, 29088884		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	15994869	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	26847698		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	26918470, 34290266	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21354048	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	26995661, 28460073		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	16707423	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	26478226		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	11181017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22901846, 26776909, 34116832, 36830563, 37231028	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22925684	Stimulate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	30877273		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24552139, 27853186, 28423507, 31181620		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18536987, 28590037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	20473581, 35650297	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	21863215, 24239723, 24321339, 26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobstein Disease	Lobstein Disease	BEFREE	10521849, 10686420, 10931857, 11113887, 11860074, 1353940, 15241796, 18755172, 1967900, 1972760, 20034948, 21113976, 22565191, 22795108, 2295701, 23079818, 23529829, 24767406, 25324685, 26478226, 26957348, 27044453, 27509835, 28436160, 29543922, 31369917, 31715426, 7942841, 8096115, 8408653, 8456805, 8544188, 8808594, 9443882, 9503369		★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	CLINVAR_DG	10739762, 10931857, 11317364, 12590186, 1445258, 15024692, 15024745, 15241796, 15728585, 15741671, 15864348, 15931785, 1634225, 16786509, 16879195, 17078022, 17211858, 18311573, 18553566, 18670065, 18704262, 18798308, 18845533, 18996919, 19344236, 19358256, 19751715, 2037280, 21249479, 21520333, 21594610, 21667357, 21884818, 22206639, 22565191, 22570641, 22589248, 22753364, 2295701, 23054245, 23079818, 23529829, 23587214, 23692737, 24147872, 24390061, 24501682, 24668929, 25086671, 25436829, 25597651, 25696019, 25944380, 25963598, 26177859, 26604951, 26627451, 26633545, 26712438, 27044453, 27132807, 27484908, 27509835, 27510842, 27519266, 27748872, 2794057, 28102596, 28116328, 28378289, 28498836, 28810924, 3403550, 7691343, 7695699, 7881420, 7942841, 8094076, 8218237, 8408653, 8456809, 8613526, 8669434, 8808594, 9016532, 9067755, 9101304, 9295084, 9443882		★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	UNIPROT_DG	1634225, 16638323, 16705691, 16786509, 1718984, 1737847, 17875077, 18670065, 24682174, 2794057, 3244312, 8223589		★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	ORPHANET_DG	21438135		★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	GENOMICS_ENGLAND_DG	8100209		★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	CTD_human_DG	8757037		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	15994869		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25514196, 35650297, 36140747, 36211008	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30787934, 31349698		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	30787934	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30082491, 33896817, 36131254	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30132520	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	36343986	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	16731589		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17903305, 21791674, 29807221, 29906404, 30416655		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	17903305		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	16707423		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28258342, 29568927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29414301		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17903305		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25860484, 28482162, 30370523, 30867749, 31650323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26818109		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10930085, 15735689, 25576648, 30132520, 30670912, 31686862		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30643458, 31492296		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16835341, 17889845		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27000374		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	1969488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan syndrome	Pubtator	3479900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan syndrome	Pubtator	35052435	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maternal hypertension	Maternal hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	15974811, 26277786, 33980846	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	Pubtator	33490271	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	26727275		★☆☆☆☆ Found in Text Mining only
Metastatic Dermatofibrosarcoma Protuberans	Metastatic Dermatofibrosarcoma Protuberans	BEFREE	11329146, 16980946		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	36853784	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997, 37641028	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	16263577, 18361931, 18580957		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	36853784	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	17273809, 19387081		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19387081	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37979904	Inhibit	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis Ossificans	BEFREE	30946936		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31034464		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31034464	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10565681, 11272901, 12034531, 12660034, 12786837, 14643521, 16681596, 16707423, 18253748, 19663837, 21570152, 22335595, 24552139, 27984233, 28103936, 28258342, 28420485, 28449806, 29140881, 30175468, 30537034, 30604926, 30946936, 31409840, 31686862		★☆☆☆☆ Found in Text Mining only
Nephrogenic Fibrosing Dermopathy	Nephrogenic Fibrosing Dermopathy	CTD_human_DG	20570839		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	CTD_human_DG	30818366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic Syndrome	CTD_human_DG	1281619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	26995661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33729061	Associate	★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	30654796		★☆☆☆☆ Found in Text Mining only
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	BEFREE	29522534		★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	30139549		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20473581, 24861026, 28796060, 30328321		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28258342, 30604926		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	24861026		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28634007		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21775118		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29906404		★☆☆☆☆ Found in Text Mining only
OI-EDS Combined Syndrome	Osteogenesis imperfecta-Ehlers-Danlos Combined Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	12101112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	CTD_human_DG	16311067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	33672311	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	15880349, 17187661, 19404930, 26973327, 27356888, 28827734, 32832544, 35093162, 36621590, 37652257, 37918800	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23965235	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	26318657, 26791034		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	27549894		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	10220145, 10417276, 10521849, 10627137, 10686420, 10931857, 11090261, 11113887, 11147834, 11208313, 11286811, 11668615, 11826020, 12217948, 12488462, 12538651, 12590186, 12870654, 1376965, 1460046, 14976317, 15024692, 1511982, 15241481, 15241796, 15339338, 15741671, 15815702, 15824851, 16272059, 16705691, 16879195, 17078022, 1718984, 17392686, 1744131, 17925189, 17955022, 18566967, 18670065, 19021896, 19283684, 1939261, 19491628, 19594296, 1967900, 19714363, 19781681, 19862557, 19907330, 19929435, 2010058, 20188343, 2035536, 2052622, 20724381, 20839288, 20946018, 21113976, 21341209, 21344539, 21530898, 21567925, 21594610, 21667357, 21829228, 21834035, 21884818, 22206639, 2220807, 22489040, 22589248, 22674700, 22753364, 22795108, 23079818, 2309707, 23145505, 23227268, 2339700, 23434763, 23529829, 23949819, 24022296, 24070816, 24668929, 24767406, 24891183, 25046257, 25324685, 25450603, 2572536, 25846194, 25858481, 25958000, 25963598, 26478226, 26634493, 26694865, 26799614, 2683783, 26927310, 27044453, 27484908, 27492436, 27510842, 27519266, 27549894, 27748872, 2777764, 28035422, 28173822, 28222408, 28261977, 28498836, 28548288, 28810924, 28812463, 28820180, 28863000, 28916811, 28916840, 28956891, 29036614, 29101475, 29538357, 29543922, 29544018, 29642148, 29669177, 29764212, 29801479, 29813187, 29946973, 30039845, 30614853, 30675999, 30886339, 30908713, 30913006, 31039433, 31075690, 31082677, 31239369, 31363794, 31369917, 31414283, 31447884, 31472299, 31568717, 31794058, 3372508, 3403550, 3857621, 7721766, 7789952, 7816518, 7860070, 8079666, 8096115, 8097422, 8223589, 8364588, 8408653, 8613526, 8619363, 8799376, 8910493, 9067755, 9385363, 9443882		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	10417276, 10931857, 11208313, 11826020, 12488462, 12538651, 1353940, 1376965, 15024692, 15824851, 16816023, 1718984, 17392686, 18272325, 18566967, 18996919, 19015742, 1905723, 1939261, 1967900, 1972760, 19929435, 20188343, 2035536, 2052622, 21113976, 21829228, 21884818, 2220807, 22674700, 22795108, 2295701, 2309707, 23227268, 23381775, 2339700, 23499310, 23529829, 23548228, 23692737, 23853499, 23983594, 24070816, 24079343, 24767406, 25257953, 25324685, 25742658, 25958000, 26432670, 26627451, 26634493, 26694865, 26863094, 27132807, 27146342, 27335225, 27484908, 27519266, 27549894, 27677223, 28173822, 28498836, 28810924, 2886666, 28904723, 29101475, 29344653, 29543922, 29669177, 29801479, 3016737, 30614853, 30675999, 30886339, 31055083, 31075690, 31082677, 31204718, 31239369, 31363794, 31533771, 31568717, 3170557, 31715426, 31876392, 31898422, 32166892, 32234057, 32281310, 32519829, 32588564, 32730936, 33166682, 33228694, 33406681, 3372508, 33920808, 33939306, 34098919, 34449476, 34519823, 35044492, 35052464, 35276006, 35346302, 35581901, 35647203, 35657380, 35660813, 35748117, 35804365, 35822426, 35855543, 35909573, 36140746, 36339400, 36343986, 36734182, 37183013, 37229455, 37293821, 37643181, 37678008, 37730650, 37810882, 37929041, 38027129, 38179771, 3857621, 40444480, 40649786, 7487936, 7679635, 7721766, 7942841, 8100856, 8223589, 8349697, 8408653, 8613526, 8808594, 8910493, 8950675, 9016532, 9443882	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	LHGDN	11432962, 11668615, 12590186, 15106082, 15728585, 16272059, 16705691, 17392686, 17875077, 18412368, 18670065, 18996919, 19145934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	CLINVAR_DG	17078022, 25963598, 26712438		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	CTD_human_DG	8757037		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 1	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	1460046, 3016737, 3372508, 37188488, 3857621, 7487936, 7679635	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	11706004, 23548228, 24767406, 29543922, 32627857	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 4	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	UNIPROT_DG	10408781, 16879195, 1770532, 18670065, 2037280, 2511192, 2794057, 7691343, 7881420, 8019571, 8364588, 8456809, 8669434, 8723681, 9101304		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	12870654, 15815702, 19283684, 22085994, 23548228, 24767406, 29543922, 7789952, 8100856		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	CLINVAR_DG	25944380		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	8100209		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	25835785, 2745420, 29344653, 31159867, 35550181, 40428297, 7945197, 7982948	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	BEFREE	11208313, 11286811, 23434763, 2745420, 29344653, 7945197, 9007315		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	UNIPROT_DG	16786509, 16879195, 1770532, 17875077, 1988452, 2745420, 7691343, 7982948, 8094076, 8339541, 9600458		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	CLINVAR_DG	25944380		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IX	Osteogenesis imperfecta	Pubtator	19781681	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type V	Osteogenesis imperfecta	Pubtator	25387264	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	BEFREE	10627137, 18996919, 3016737, 30408804, 7487936, 7643358, 7679635, 8349697, 8364588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	UNIPROT_DG	10627137, 1460047, 1511982, 1613761, 16566045, 16786509, 18670065, 1874719, 18996919, 1939261, 1953667, 2035536, 2036375, 2037280, 2116413, 2211725, 2339700, 2470760, 25958000, 2777764, 2794057, 2913053, 3016737, 3108247, 3403550, 3667599, 7520724, 7679635, 7691343, 7961597, 8100209, 8349697, 8349698, 8364588, 8456808, 8786074, 9143923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	8100209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	BEFREE	24891183		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, recessive perinatal lethal	Osteogenesis Imperfecta	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, type 5	Osteogenesis Imperfecta	BEFREE	25387264		★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	30251958	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	11316004, 11547832, 12107666, 16730481		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopenia	Osteopenia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopenia	Osteopenia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	BEFREE	10025922, 11285309, 12107666, 12185380, 14734826, 15018490, 15241219, 15570401, 15621207, 19429913, 20146006, 20724381, 20798928, 21178584, 22057139, 22489040, 23028809, 23137636, 23731710, 24566004, 26400328, 28487939, 8841196, 9833939		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis	Osteoporosis	Pubtator	10025922, 11285309, 12185380, 14672895, 15466008, 23028809, 23731710, 23985982, 26281333, 28222408, 29745905, 30567240, 33451138, 34449476, 35937806, 36105394, 37086417, 40332270	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis	Osteoporosis	LHGDN	12575457, 12584032, 15241219, 18634290		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis	Osteoporosis	Pubtator	19877060	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis	Osteoporosis	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis	Osteoporosis	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis	Osteoporosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	22057139, 31478244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Postmenopausal	Osteoporosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Senile	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	14528100		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2036957, 24072491, 9443071		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24072491, 35578666, 37978903, 39768988	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	11826020		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	11860074, 15211650, 15241219, 17489845, 21777208, 22130917, 22489040, 23601588, 24170657		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	LHGDN	15241219, 17489845		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	Pubtator	35855543	Associate	★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22249249, 30142790, 32319226, 35650297	Associate	★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	31554784		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29414301		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31428151		★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	33893003	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	37604222	Associate	★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	29393423		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26818109, 29520684, 31128912		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	23418565		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31663982		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	31663982	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Benign Mucous Membrane	Benign mucous membrane pemphigoid	Pubtator	37690517	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	31831777		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical periodontitis	Pubtator	31831777	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	23418565	Associate	★☆☆☆☆ Found in Text Mining only
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)	Pigmented Dermatofibrosarcoma Protuberans	BEFREE	12034531, 16843106		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	25521223		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	BEFREE	25521223		★☆☆☆☆ Found in Text Mining only
Platelet Glycoprotein IV Deficiency	Platelet Glycoprotein IV Deficiency	BEFREE	30567481		★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	16580273		★☆☆☆☆ Found in Text Mining only
Premature osteoarthritis	Premature osteoarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	31725165		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	27484908		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17903305		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35650297, 37108678, 37565899, 40093812	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	25111588		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28420366, 29497425, 29568927, 30830875, 30915776		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	16707423		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	27484908		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	27484908	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26191188		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger eye malformation sequence	Axenfeld anomaly	BEFREE	16272059		★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	BEFREE	16272059		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	21567925		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	16521042		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	14528100		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	BEFREE	16731589, 30877273, 30946936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	Pubtator	16731589, 26055407, 29104083, 30877273, 35238118, 36928336	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma Ewing	Sarcoma	Pubtator	35578666	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	14613485, 17698844, 18298657, 22139845		★☆☆☆☆ Found in Text Mining only
Scleroderma Limited	Scleroderma	Pubtator	30614853	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	1697606, 26357964	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	BEFREE	18664539		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	23529829, 26627451, 31533771, 37730650	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	23529829, 26927310		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	22153773	Associate	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	17273809, 17557158, 18836165, 19260140, 22219633		★☆☆☆☆ Found in Text Mining only
Shagreen patch	Shagreen patch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	27549894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	9771975		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33761685	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	28222408, 9738510	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30537034, 30604926		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18669583, 34999279, 35132271	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25860484, 28482162, 30370523, 30867749, 31650323		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18302799, 19306436, 27894325, 28058586, 30948703, 31127138, 31848941, 32058995, 32293980, 32908877, 33345281, 33582701, 33780362, 33788653, 33896817, 34356118, 35650297, 35739492, 37118990, 37800754, 37868053, 38041130, 40224213	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25860484, 33381592	Stimulate	★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	LHGDN	18379465		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	10638330, 11037881, 12881530, 14613485, 1697606, 17698844, 18036782, 18298657, 22139845, 26357964, 30872612, 8615828, 8702442, 8702443, 9811061		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	14613485, 18323784		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	18353721		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26818109	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30572540	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26818109		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	26818109	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26818109		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26818109	Stimulate	★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	BEFREE	23949819		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1684560		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34326372	Associate	★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21335463		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30723390, 33035117, 35669725	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18089612, 22901846		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	BEFREE	30877273		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	30877273	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	35313524	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	36343986	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	1712899	Associate	★☆☆☆☆ Found in Text Mining only