PTCH1 (patched 1)

Gene

• Entrez ID: 5727
• Gene name: Patched 1
• Gene symbol: PTCH1
• Synonyms (NCBI Gene): BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH, SLC65B1
• Chromosome: 9
• Chromosome location: 9q22.32
• Summary: This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligan

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138911275	G>A	Pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs142274954	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs143091773	T>-,TT	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs143494325	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Intron variant, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs145867500	A>C,G	Likely-benign, pathogenic	Stop gained, genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs147067171	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs149691476	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs199476090	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs199476091	C>T	Likely-benign, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs199476093	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs267606984	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs368417828	G>A	Likely-benign, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs368869806	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs369882883	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs372027952	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs386833412	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587776689	T>A,G	Likely-benign, pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs587778629	C>T	Uncertain-significance, not-provided, likely-pathogenic, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs747234651	G>A,T	Likely-benign, pathogenic	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs751977093	CCC>-,CC,CCCC	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Inframe deletion, intron variant, genic upstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant
rs752765582	C>-	Likely-pathogenic	Genic upstream transcript variant, initiator codon variant, 5 prime UTR variant, frameshift variant
rs767273237	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs772407797	G>A,C	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs773564643	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs776154605	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs779791579	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs780434261	T>A,C	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs781768965	C>A,G	Pathogenic	Upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs786204056	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs794727242	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs863224442	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs863224443	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs863224444	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs863224484	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs863224485	GGACCCAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs863224486	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224487	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225054	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs863225055	AAAAGGGATTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs864622212	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs864622293	C>G	Likely-pathogenic, pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs864622374	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs864622583	AACTTGCCGCAGTTTTTTTGAATGTAACAACCCAG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs878853846	T>C	Uncertain-significance, likely-pathogenic	Intron variant, genic downstream transcript variant
rs878853847	C>-,CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs878853849	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs878853856	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs886039540	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs886039678	CCGATGTACTGCTCCCAGAAGAGGAAGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs886041943	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1057518400	C>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057520590	C>G	Pathogenic	Splice acceptor variant
rs1060502264	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502268	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1060502271	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060502273	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502277	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1060502278	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1060502280	TA>-	Pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1060502281	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1060502285	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060502286	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502287	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1060502295	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502297	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502298	A>G,T	Pathogenic, likely-benign	Coding sequence variant, genic downstream transcript variant, stop gained, synonymous variant, non coding transcript variant
rs1060502301	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1064793474	->G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1064793921	T>C,G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1064793922	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1064793978	T>C	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1064793991	GCATGTAGTC>ACTA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, inframe indel
rs1064794117	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1064794260	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, synonymous variant, non coding transcript variant
rs1064795637	CACT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant, genic downstream transcript variant, non coding transcript variant
rs1064796259	->AT	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1085307511	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs1085307752	C>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1131690967	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant, upstream transcript variant
rs1131690968	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1131690969	CTTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690970	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1131690971	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131690972	->AGAT	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690973	GGGGCGGTCCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690974	C>T	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1131690976	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690978	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690979	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1131690980	GAAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1131690981	TTAGGGGTCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131690984	T>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1131690985	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131690986	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1131690987	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690989	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131690990	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131690993	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131690994	C>G	Pathogenic	Synonymous variant, coding sequence variant, splice donor variant
rs1131690995	C>T	Pathogenic	Splice donor variant
rs1131690997	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690999	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131691001	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, splice acceptor variant
rs1131691002	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1333346461	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs1344258746	C>A,T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs1356231878	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs1403732379	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1432645175	A>C,G	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1472299295	C>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1554689667	ATAT>GGA	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554690411	GA>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554690484	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554691354	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554691359	A>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554691423	->TCTAC	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554691658	C>GGGTCCACAACATCT	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554697839	AACGCCCGCAGAG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554697928	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554698258	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554698260	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554698531	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554698582	ACCAGCAGGACGCCA>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion, intron variant
rs1554698587	ACGCCAGCCAGCCCCACGG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554698613	TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG>-	Pathogenic	Splice acceptor variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554698800	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699216	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699612	CAGTGCATAT>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699837	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699964	T>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699969	GATA>ATC	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554700010	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554700574	CAGGAGG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, splice donor variant
rs1554700630	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554700647	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554700720	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554700742	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554702032	TGGACA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1554702186	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1554708626	CCACAGCTCCTCCACGT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708751	T>-,TT	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708753	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1554708760	AA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708771	CT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708787	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1554708795	GGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA>-	Pathogenic	Splice acceptor variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs1564009755	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564050178	AGCC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1564050405	->ATAG	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1564051237	GAGT>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564051834	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1564053040	CCTCCAGG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564055259	G>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564055606	G>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564055612	G>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564055868	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564058147	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564058222	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564063386	->A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564088181	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587692888	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1587693508	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1587693544	->T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1587693623	GTCTCTGA>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1588517196	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588519463	ATGGTGAGGATCGCCAGCACAGCAAAGAAATACCTG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, splice acceptor variant
rs1588528637	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs1588535416	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588535437	->AC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588535471	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs1588535611	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588539525	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1588539623	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588596702	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588600929	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs1588601051	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs1588602262	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1588602354	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588603014	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588605348	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588605485	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588605746	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588608715	CCATTCA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588608794	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588609559	GTACTCA>AGCG	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1588609575	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1588610324	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588622713	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, initiator codon variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT566237	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT566236	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT439879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT609747	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT609747	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT609746	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT609746	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT609743	hsa-miR-4530	HITS-CLIP	27418678
MIRT609743	hsa-miR-4530	HITS-CLIP	27418678
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	27418678
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	27418678
MIRT613560	hsa-miR-8485	HITS-CLIP	27418678
MIRT613560	hsa-miR-8485	HITS-CLIP	27418678
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT566237	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT566236	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT1272062	hsa-miR-101	CLIP-seq
MIRT1272063	hsa-miR-128	CLIP-seq
MIRT1272064	hsa-miR-134	CLIP-seq
MIRT1272065	hsa-miR-144	CLIP-seq
MIRT1272066	hsa-miR-203	CLIP-seq
MIRT1272067	hsa-miR-204	CLIP-seq
MIRT1272068	hsa-miR-2054	CLIP-seq
MIRT1272069	hsa-miR-211	CLIP-seq
MIRT1272070	hsa-miR-27a	CLIP-seq
MIRT1272071	hsa-miR-27b	CLIP-seq
MIRT1272072	hsa-miR-3118	CLIP-seq
MIRT1272073	hsa-miR-3121-5p	CLIP-seq
MIRT1272074	hsa-miR-3129-3p	CLIP-seq
MIRT1272075	hsa-miR-3164	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272077	hsa-miR-3545-3p	CLIP-seq
MIRT1272078	hsa-miR-425	CLIP-seq
MIRT1272079	hsa-miR-4287	CLIP-seq
MIRT1272080	hsa-miR-4469	CLIP-seq
MIRT1272081	hsa-miR-4501	CLIP-seq
MIRT1272082	hsa-miR-4685-3p	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272084	hsa-miR-4776-3p	CLIP-seq
MIRT1272085	hsa-miR-4802-3p	CLIP-seq
MIRT1272086	hsa-miR-582-5p	CLIP-seq
MIRT1272087	hsa-miR-626	CLIP-seq
MIRT1272088	hsa-miR-642b	CLIP-seq
MIRT1272089	hsa-miR-802	CLIP-seq
MIRT1272062	hsa-miR-101	CLIP-seq
MIRT1272090	hsa-miR-1208	CLIP-seq
MIRT1272063	hsa-miR-128	CLIP-seq
MIRT1272064	hsa-miR-134	CLIP-seq
MIRT1272091	hsa-miR-141	CLIP-seq
MIRT1272065	hsa-miR-144	CLIP-seq
MIRT1272092	hsa-miR-200a	CLIP-seq
MIRT1272067	hsa-miR-204	CLIP-seq
MIRT1272093	hsa-miR-208a	CLIP-seq
MIRT1272094	hsa-miR-208b	CLIP-seq
MIRT1272069	hsa-miR-211	CLIP-seq
MIRT1272070	hsa-miR-27a	CLIP-seq
MIRT1272071	hsa-miR-27b	CLIP-seq
MIRT1272072	hsa-miR-3118	CLIP-seq
MIRT1272073	hsa-miR-3121-5p	CLIP-seq
MIRT1272075	hsa-miR-3164	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272095	hsa-miR-342-3p	CLIP-seq
MIRT1272096	hsa-miR-365	CLIP-seq
MIRT1272097	hsa-miR-3658	CLIP-seq
MIRT1272098	hsa-miR-377	CLIP-seq
MIRT1272079	hsa-miR-4287	CLIP-seq
MIRT1272099	hsa-miR-4432	CLIP-seq
MIRT1272080	hsa-miR-4469	CLIP-seq
MIRT1272081	hsa-miR-4501	CLIP-seq
MIRT1272100	hsa-miR-4522	CLIP-seq
MIRT1272082	hsa-miR-4685-3p	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272101	hsa-miR-4728-3p	CLIP-seq
MIRT1272102	hsa-miR-4763-5p	CLIP-seq
MIRT1272084	hsa-miR-4776-3p	CLIP-seq
MIRT1272085	hsa-miR-4802-3p	CLIP-seq
MIRT1272103	hsa-miR-499-5p	CLIP-seq
MIRT1272104	hsa-miR-3074-3p	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272105	hsa-miR-545	CLIP-seq
MIRT1272106	hsa-miR-561	CLIP-seq
MIRT1272062	hsa-miR-101	CLIP-seq
MIRT1272063	hsa-miR-128	CLIP-seq
MIRT1272107	hsa-miR-1283	CLIP-seq
MIRT1272064	hsa-miR-134	CLIP-seq
MIRT1272065	hsa-miR-144	CLIP-seq
MIRT1272067	hsa-miR-204	CLIP-seq
MIRT1272069	hsa-miR-211	CLIP-seq
MIRT1272070	hsa-miR-27a	CLIP-seq
MIRT1272071	hsa-miR-27b	CLIP-seq
MIRT1272072	hsa-miR-3118	CLIP-seq
MIRT1272073	hsa-miR-3121-5p	CLIP-seq
MIRT1272108	hsa-miR-3163	CLIP-seq
MIRT1272075	hsa-miR-3164	CLIP-seq
MIRT1272109	hsa-miR-323b-3p	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272110	hsa-miR-409-3p	CLIP-seq
MIRT1272111	hsa-miR-4277	CLIP-seq
MIRT1272079	hsa-miR-4287	CLIP-seq
MIRT1272080	hsa-miR-4469	CLIP-seq
MIRT1272081	hsa-miR-4501	CLIP-seq
MIRT1272112	hsa-miR-4668-3p	CLIP-seq
MIRT1272082	hsa-miR-4685-3p	CLIP-seq
MIRT1272113	hsa-miR-4704-5p	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272084	hsa-miR-4776-3p	CLIP-seq
MIRT1272085	hsa-miR-4802-3p	CLIP-seq
MIRT1272114	hsa-miR-605	CLIP-seq
MIRT1272115	hsa-miR-1226	CLIP-seq
MIRT1272116	hsa-miR-125a-3p	CLIP-seq
MIRT1272117	hsa-miR-3161	CLIP-seq
MIRT1272118	hsa-miR-3194-5p	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272119	hsa-miR-4311	CLIP-seq
MIRT1272120	hsa-miR-4506	CLIP-seq
MIRT1272121	hsa-miR-4640-5p	CLIP-seq
MIRT1272122	hsa-miR-4687-5p	CLIP-seq
MIRT1272123	hsa-miR-4726-5p	CLIP-seq
MIRT1272124	hsa-miR-4733-3p	CLIP-seq
MIRT1272125	hsa-miR-4735-5p	CLIP-seq
MIRT1272126	hsa-miR-539	CLIP-seq
MIRT1272127	hsa-miR-576-5p	CLIP-seq
MIRT1272128	hsa-miR-634	CLIP-seq
MIRT1920838	hsa-miR-1246	CLIP-seq
MIRT1920839	hsa-miR-4320	CLIP-seq
MIRT1920838	hsa-miR-1246	CLIP-seq
MIRT1920839	hsa-miR-4320	CLIP-seq
MIRT1272066	hsa-miR-203	CLIP-seq
MIRT1272074	hsa-miR-3129-3p	CLIP-seq
MIRT2080005	hsa-miR-3145-5p	CLIP-seq
MIRT2080006	hsa-miR-3159	CLIP-seq
MIRT1272077	hsa-miR-3545-3p	CLIP-seq
MIRT2080007	hsa-miR-3591-3p	CLIP-seq
MIRT1272111	hsa-miR-4277	CLIP-seq
MIRT2080008	hsa-miR-4464	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272101	hsa-miR-4728-3p	CLIP-seq
MIRT1272124	hsa-miR-4733-3p	CLIP-seq
MIRT2080009	hsa-miR-4748	CLIP-seq
MIRT2080010	hsa-miR-4757-5p	CLIP-seq
MIRT2080011	hsa-miR-4761-3p	CLIP-seq
MIRT2080012	hsa-miR-4764-3p	CLIP-seq
MIRT2080013	hsa-miR-488	CLIP-seq
MIRT2080014	hsa-miR-548g	CLIP-seq
MIRT2080015	hsa-miR-548n	CLIP-seq
MIRT1272106	hsa-miR-561	CLIP-seq
MIRT2080016	hsa-miR-587	CLIP-seq
MIRT1272089	hsa-miR-802	CLIP-seq
MIRT2080017	hsa-miR-3160-5p	CLIP-seq
MIRT2080018	hsa-miR-922	CLIP-seq
MIRT2306265	hsa-miR-15a	CLIP-seq
MIRT2306266	hsa-miR-15b	CLIP-seq
MIRT2306267	hsa-miR-16	CLIP-seq
MIRT2306268	hsa-miR-195	CLIP-seq
MIRT2306269	hsa-miR-424	CLIP-seq
MIRT2306270	hsa-miR-497	CLIP-seq
MIRT1272089	hsa-miR-802	CLIP-seq
MIRT2439635	hsa-miR-1236	CLIP-seq
MIRT2439636	hsa-miR-1299	CLIP-seq
MIRT2439637	hsa-miR-2117	CLIP-seq
MIRT2080005	hsa-miR-3145-5p	CLIP-seq
MIRT1272098	hsa-miR-377	CLIP-seq
MIRT2439638	hsa-miR-3978	CLIP-seq
MIRT1272111	hsa-miR-4277	CLIP-seq
MIRT2439639	hsa-miR-4447	CLIP-seq
MIRT2439640	hsa-miR-4472	CLIP-seq
MIRT2439641	hsa-miR-4487	CLIP-seq
MIRT2439642	hsa-miR-4753-3p	CLIP-seq
MIRT2080011	hsa-miR-4761-3p	CLIP-seq
MIRT2080012	hsa-miR-4764-3p	CLIP-seq
MIRT2439643	hsa-miR-4782-5p	CLIP-seq
MIRT2439644	hsa-miR-498	CLIP-seq
MIRT2439645	hsa-miR-516b	CLIP-seq
MIRT2439646	hsa-miR-583	CLIP-seq
MIRT2080016	hsa-miR-587	CLIP-seq
MIRT2439647	hsa-miR-875-3p	CLIP-seq
MIRT2080011	hsa-miR-4761-3p	CLIP-seq
MIRT2080012	hsa-miR-4764-3p	CLIP-seq
MIRT2080016	hsa-miR-587	CLIP-seq
MIRT2457392	hsa-miR-3184	CLIP-seq
MIRT2457393	hsa-miR-3925-5p	CLIP-seq
MIRT2457394	hsa-miR-423-5p	CLIP-seq
MIRT2457395	hsa-miR-4688	CLIP-seq
MIRT2457396	hsa-miR-548p	CLIP-seq
MIRT2457397	hsa-miR-589	CLIP-seq
MIRT2457393	hsa-miR-3925-5p	CLIP-seq
MIRT2457396	hsa-miR-548p	CLIP-seq
MIRT2457397	hsa-miR-589	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	16229683
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001709	Process	Cell fate determination	IEA
GO:0001841	Process	Neural tube formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005113	Function	Patched binding	IEA
GO:0005119	Function	Smoothened binding	IBA
GO:0005119	Function	Smoothened binding	IEA
GO:0005119	Function	Smoothened binding	IPI	9811851, 11278759
GO:0005515	Function	Protein binding	IPI	19502428, 19561609, 21802063, 25283809, 29954986, 29995851, 30139912, 32296183, 32814053
GO:0005794	Component	Golgi apparatus	IDA	11278759
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11278759, 12635140
GO:0005886	Component	Plasma membrane	IEA
GO:0005901	Component	Caveola	IDA	11278759
GO:0005929	Component	Cilium	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008158	Function	Hedgehog receptor activity	IBA
GO:0008158	Function	Hedgehog receptor activity	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0010157	Process	Response to chlorate	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	21931618
GO:0015485	Function	Cholesterol binding	IDA	21931618
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	ISS
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021532	Process	Neural tube patterning	IMP	8681379
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021997	Process	Neural plate axis specification	IEA
GO:0021997	Process	Neural plate axis specification	ISS
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030332	Function	Cyclin binding	IEA
GO:0030332	Function	Cyclin binding	IPI	11331587
GO:0030496	Component	Midbody	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030850	Process	Prostate gland development	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035108	Process	Limb morphogenesis	IMP	8681379
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	ISS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0043279	Process	Response to alkaloid	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044294	Component	Dendritic growth cone	IEA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045177	Component	Apical part of cell	IDA	17850284
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	16229683
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IBA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045879	Process	Negative regulation of smoothened signaling pathway	TAS	11001584
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11278759
GO:0048568	Process	Embryonic organ development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0051782	Process	Negative regulation of cell division	IEA
GO:0060037	Process	Pharyngeal system development	IMP	8681379, 8981943
GO:0060170	Component	Ciliary membrane	TAS
GO:0060603	Process	Mammary gland duct morphogenesis	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	IEA
GO:0061005	Process	Cell differentiation involved in kidney development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	IMP	8681379
GO:0071397	Process	Cellular response to cholesterol	IEA
GO:0071397	Process	Cellular response to cholesterol	IMP	11278759
GO:0071397	Process	Cellular response to cholesterol	ISS
GO:0071679	Process	Commissural neuron axon guidance	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072203	Process	Cell proliferation involved in metanephros development	IEA
GO:0072205	Process	Metanephric collecting duct development	IEP	17850284
GO:0072659	Process	Protein localization to plasma membrane	IDA	11278759
GO:0097108	Function	Hedgehog family protein binding	IBA
GO:0097108	Function	Hedgehog family protein binding	IEA
GO:0097108	Function	Hedgehog family protein binding	IPI	9811851
GO:0097421	Process	Liver regeneration	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

Other IDs

• MIM: 601309
• HGNC: 9585
• e!Ensembl: ENSG00000185920

Protein

• UniProt ID: Q13635
• Protein name: Protein patched homolog 1 (PTC) (PTC1)
• Protein function: Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of
• PDB: 6DMB, 6DMO, 6DMY, 6E1H, 6N7G, 6N7H, 6N7K, 6OEU, 6OEV, 6RMG, 6RTW, 6RTX, 6RTY, 6RVC, 6RVD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02460	Patched	358 → 875	Patched family	Family
  PF02460	Patched	966 → 1180	Patched family	Family

• Tissue specificity: TISSUE SPECIFICITY: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
• Sequence:

  MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAF
  ALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAAN
  LETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLD
  SALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAK
  LQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPA
  DPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHAL
  QTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL
  SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALS
  VAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGEC
  LKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDL
  YRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQS
  TVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSL
  HCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDI
  VPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQL
  PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDIS
  QLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETR
  LRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQ
  YIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSA
  VPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLML
  AGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEP
  PPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATE
  NPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRR
  DAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVA
  VHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEER
  PRGSSSN

• Sequence length: 1447

Pathways

KEGG:

cAMP signaling pathway
Hedgehog signaling pathway
Axon guidance
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma

Reactome:

Hedgehog 'off' state
Ligand-receptor interactions
Hedgehog 'on' state
Activation of SMO

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
Anophthalmia-microphthalmia syndrome	Likely pathogenic	rs869025270	RCV000207370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal cell carcinoma, somatic	Pathogenic	rs587776689	RCV000008703	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal cell carcinoma, susceptibility to, 1	Likely pathogenic; Pathogenic	rs151216961, rs1060502277, rs766313615, rs1060502286, rs1564055259, rs376353501, rs1840094606	RCV004574630 RCV005049559 RCV003389327 RCV005398623 RCV001196669 RCV005394664 RCV001197759	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Basal cell nevus syndrome 1	Likely pathogenic; Pathogenic	rs1060502268, rs267606984, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs878853849, rs1554695110, rs1298115628, rs2538234385, rs1268572514, rs2538041118, rs2538244596, rs2118330477, rs1060502277, rs1060502286, rs1064793921, rs1587692888, rs1554708751, rs1588605348, rs1587693544, rs1588568813, rs376353501, rs1840109796	RCV005866985 RCV004576922 RCV004576889 RCV004576890 RCV004576891 RCV004576892 RCV004576893 RCV004576894 RCV004808535 RCV004576942 RCV005249513 RCV005254858 RCV005871293 RCV003985964 RCV003987294 RCV004577311 RCV005049559 RCV005398623 RCV004594064 RCV004576912 RCV005624168 RCV004796321 RCV005603677 RCV004576978 RCV005394664 RCV004801932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital hydrocephalus	Pathogenic; Likely pathogenic	rs1588574984, rs1588622713	RCV000845213 RCV000845211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gorlin syndrome	Pathogenic; Likely pathogenic	rs1841077120, rs1840077192, rs2136632449, rs1060502282, rs2118873547, rs2136607401, rs863224443, rs2136630846, rs2136647822, rs2136648673, rs2136659959, rs1839114207, rs2136660954, rs2136661234, rs2136661215, rs2136670613, rs2136672811, rs864622088, rs2136687071, rs2136689543, rs2136689747, rs2117951765, rs2117953276, rs2117954271, rs2117965922, rs2117966753, rs2117970002, rs2117970934, rs2117973287, rs2118027397, rs2118027698, rs2118030407, rs2118031073, rs2118033907, rs2118037130, rs2118088248, rs2118255495, rs2118262541, rs2118283647, rs1060502268, rs2118285458, rs2118303436, rs2118306407, rs2118329441, rs2118332288, rs2118337307, rs2118338419, rs1060502271, rs2118387075, rs2118388351, rs2118413937, rs2118414186, rs2118418344, rs2118420718, rs2118423280, rs2118429101, rs2118461277, rs2118466034, rs2118471978, rs2118472793, rs1841597665, rs2118537234, rs1554702009, rs2118543334, rs2118546196, rs2118548727, rs2118550859, rs774822170, rs2118874002, rs2118875429, rs2118876450, rs2118879343, rs2118879524, rs2118881561, rs2118547596, rs2118908187, rs2118364366, rs2117947811, rs1447209500, rs2118045103, rs2117976305, rs2118876177, rs2118472215, rs2118540467, rs2117949826, rs1131690971, rs2136672063, rs2117958655, rs2118302461, rs2118462668, rs2118873472, rs2118875526, rs2118427012, rs2118538755, rs2136689297, rs113663584, rs2117947928, rs144323077, rs2117946757, rs2118388624, rs2136631061, rs2136607887, rs864622293, rs2136607614, rs2118026370, rs2118251139, rs2136632164, rs1838929775, rs2118338822, rs2118460945, rs2118427859, rs2118392260, rs2136659660, rs2136660921, rs2118466784, rs2118458606, rs1554691698, rs2118874752, rs2118304794, rs1843652409, rs2118060990, rs2118311257, rs2117960287, rs2136650202, rs1249050389, rs2118878946, rs760297274, rs2117975028, rs267606984, rs1311804361, rs2118062649, rs2118388096, rs1839104595, rs2538211745, rs2538266790, rs1844385255, rs2538217687, rs2538216536, rs2118420430, rs2538247585, rs761353734, rs1588602262, rs2538247904, rs786204056, rs786204167, rs1588609785, rs2538078988, rs2538159427, rs2538217131, rs1057520590, rs1839301103, rs2118248031, rs1841574509, rs2538133254, rs1588535427, rs2538040944, rs778810550, rs2538246190, rs2538211802, rs62637629, rs2538146800, rs2538244312, rs2538093466, rs2538069177, rs2538269645, rs2538020986, rs2538080572, rs1343177940, rs863224442, rs863224485, rs863224484, rs863224444, rs863224487, rs863224486, rs2538206174, rs2538093611, rs1131690967, rs863225055, rs863225054, rs863225467, rs2538230250, rs1131690994, rs2538248041, rs2538217380, rs2538132204, rs2538384504, rs2136686539, rs2538198952, rs2538079969, rs2538233982, rs2136647071, rs2117944381, rs2538146766, rs2538057578, rs864622120, rs864622374, rs864622583, rs864622212, rs199476090, rs2118365442, rs2118336503, rs1840109796, rs878853856, rs878853852, rs778260156, rs878853847, rs878853849, rs2538383374, rs1844383228, rs2538146279, rs2538069724, rs886039540, rs2118467340, rs1554695110, rs2538216680, rs1298115628, rs2136659817, rs2538066828, rs2538204787, rs2538225516, rs2538095961, rs2118020615, rs2538143965, rs2538131547, rs2136672044, rs2538130444, rs1131691630, rs2117957845, rs2538133481, rs2538148144, rs2538206242, rs2538231304, rs2118545274, rs2538382746, rs2118880072, rs2538066708, rs1131690979, rs2538129419, rs2538149907, rs1838926237, rs1588609575, rs2538068289, rs2118311917, rs2538134289, rs2538210306, rs2468959271, rs2538244446, rs2538077953, rs2538234144, rs2538224503, rs2538384730, rs2538205218, rs2538209896, rs2538134281, rs2118387037, rs2538067109, rs2538069785, rs2538217642, rs2118427528, rs2538244290, rs2538068441, rs2538234385, rs2538270047, rs2538068196, rs2538230203, rs1554698531, rs2538149666, rs2118279350, rs2118391725, rs2118259496, rs2136669781, rs2538231122, rs2538204585, rs2117963353, rs2118544070, rs1268572514, rs1840398430, rs1057518400, rs751977093, rs1060502264, rs1060502301, rs1060502277, rs1060502297, rs766313615, rs1060502274, rs1060502286, rs1060502287, rs1060502280, rs1060502273, rs1060502285, rs1060502298, rs1060502294, rs1060502292, rs1060502295, rs772407797, rs1060502278, rs1060502281, rs1064794260, rs1064796618, rs1064793921, rs1064793978, rs1064793922, rs1131690985, rs1131690980, rs747234651, rs1131690992, rs863224650, rs1131690974, rs1131690978, rs1131690987, rs1131690969, rs1131690986, rs1131690995, rs1131691700, rs781768965, rs1587692888, rs1554692291, rs1554698258, rs1554699837, rs1554692266, rs1554695612, rs1554698800, rs1554689667, rs1554690411, rs1554691354, rs1554697839, rs1554700742, rs1554691423, rs1554695039, rs1554698582, rs1554708751, rs1554691359, rs1554698260, rs1554708787, rs1432645175, rs1554708760, rs1554699216, rs1554700010, rs1554708771, rs1554695251, rs1554697928, rs1554698774, rs1554700574, rs1554700720, rs1554702186, rs1554708753, rs1554708795, rs1554698613, rs1344258746, rs1554699964, rs1564051834, rs1564063386, rs1564030530, rs1564032829, rs1564050405, rs1564055612, rs1564088181, rs1564031259, rs776154605, rs1564055259, rs1564055868, rs1564050178, rs1564058222, rs1333346461, rs1564009755, rs1356231878, rs1564051237, rs1564053040, rs1564055606, rs1564058147, rs1564035949, rs1588578536, rs1588528503, rs1588535416, rs1472299295, rs1588568477, rs1588568595, rs1588574943, rs766973191, rs1588596702, rs1588598613, rs1588598694, rs1588600929, rs1588603014, rs1588605348, rs1588605485, rs1588605746, rs145867500, rs1588608715, rs1588608794, rs1587693508, rs1587693623, rs1588519463, rs1588539525, rs1588609559, rs1403732379, rs1588574984, rs1588535437, rs1588610324, rs1587693544, rs1588539623, rs1588568813, rs1588602354, rs1838307047, rs1839115028, rs779388970, rs1839298779, rs1840101155, rs1840283586, rs1840319154, rs1841155526, rs1841322999, rs772903899, rs376353501, rs1841576526, rs1841923572, rs1843663751, rs1843665508, rs1838303339, rs1838244368, rs1840094606, rs1838315058, rs1840281213, rs1840292996, rs1838244110, rs1838661583, rs1839113498, rs1841217203, rs1841317825, rs1841329871, rs1838664702, rs1841568184, rs1839107392, rs1839516520, rs1840098608, rs1841411687, rs1841574026, rs1841576850, rs1838305772, rs1838655420, rs1841404957, rs1588614178, rs1841214135, rs1838658874, rs1840114155, rs1841170844, rs1840277125	RCV001319856 RCV001340501 RCV001379827 RCV001377522 RCV001379056 RCV001380653 RCV001388922 RCV001384649 RCV001387760 RCV001387993 RCV001385162 RCV001382542 RCV001387761 RCV001383596 RCV001380582 RCV001387217 RCV001387764 RCV001387765 RCV001384820 RCV001387766 RCV001387767 RCV001386623 RCV001382326 RCV001387768 RCV001384819 RCV001383951 RCV001388921 RCV001385520 RCV001383506 RCV001382745 RCV001385164 RCV001389889 RCV001385522 RCV001389065 RCV001390182 RCV001388169 RCV001383116 RCV001388685 RCV001381290 RCV001385523 RCV001380596 RCV001385524 RCV001380730 RCV001386588 RCV001383785 RCV001382775 RCV001385165 RCV001385521 RCV001381725 RCV001388489 RCV001388689 RCV001390420 RCV001385738 RCV001387213 RCV001384524 RCV001390421 RCV001383948 RCV001390422 RCV001381130 RCV001380134 RCV001384268 RCV001384868 RCV001381730 RCV001390423 RCV001388877 RCV001390137 RCV001385905 RCV001386232 RCV001390424 RCV001381984 RCV001389744 RCV001383968 RCV001390339 RCV001390425 RCV001387428 RCV001384122 RCV003609181 RCV001706954 RCV001729979 RCV001733427 RCV001775045 RCV001795879 RCV001806460 RCV001808090 RCV001837175 RCV001874443 RCV001874052 RCV001897216 RCV002024259 RCV001878325 RCV001963725 RCV002015437 RCV001999756 RCV001953154 RCV001950893 RCV001934565 RCV001930044 RCV001912530 RCV002048633 RCV002047987 RCV001874635 RCV001898584 RCV001982256 RCV001960109 RCV001916851 RCV001990900 RCV001993151 RCV001866649 RCV001906202 RCV002007443 RCV002007549 RCV001939603 RCV001942231 RCV001942232 RCV001945869 RCV001994852 RCV001951204 RCV001953454 RCV001883048 RCV001972360 RCV001888912 RCV001875535 RCV001996058 RCV001953617 RCV001901665 RCV002047358 RCV001937734 RCV001903665 RCV001883806 RCV001907038 RCV001909578 RCV001973532 RCV001962586 RCV000144436 RCV002223033 RCV002250270 RCV002250271 RCV002250272 RCV002255240 RCV002509129 RCV002509130 RCV002284043 RCV002288442 RCV002289412 RCV002289420 RCV002289424 RCV002290368 RCV002291104 RCV002291144 RCV003609225 RCV000167915 RCV000168180 RCV002471945 RCV003062220 RCV003058226 RCV003062221 RCV003062222 RCV003058227 RCV002633591 RCV002627569 RCV002825373 RCV002802111 RCV002801791 RCV002801818 RCV002837983 RCV002851038 RCV002842541 RCV002829381 RCV002872240 RCV002867141 RCV002876399 RCV002847375 RCV002848158 RCV002877168 RCV002928517 RCV002942606 RCV000196825 RCV000195968 RCV000196749 RCV000199981 RCV000199083 RCV000199837 RCV000197615 RCV002970737 RCV003002007 RCV002993678 RCV000201254 RCV000201252 RCV000202420 RCV003006344 RCV003021687 RCV003015870 RCV003015746 RCV003023284 RCV003034145 RCV003046143 RCV003046198 RCV003031745 RCV003042457 RCV003043545 RCV003046841 RCV003040063 RCV003049535 RCV003054300 RCV000206594 RCV000204242 RCV000206300 RCV000205973 RCV000205683 RCV000008696 RCV000008698 RCV000008709 RCV003128292 RCV000226160 RCV000234129 RCV000230356 RCV000231863 RCV000230457 RCV003152981 RCV003152993 RCV003153157 RCV003153200 RCV001387762 RCV003233473 RCV001804162 RCV003447833 RCV003448546 RCV003494081 RCV003502901 RCV003502962 RCV003502835 RCV003503733 RCV003503711 RCV003504393 RCV003504167 RCV003502014 RCV003502284 RCV003504550 RCV003504551 RCV003504552 RCV003504553 RCV003504554 RCV003504555 RCV003504556 RCV003504557 RCV003504558 RCV003504559 RCV003504560 RCV003502038 RCV003502090 RCV003502159 RCV003502451 RCV003502482 RCV003503090 RCV003503130 RCV003503223 RCV003503399 RCV003504030 RCV003504039 RCV003503343 RCV003503345 RCV003503281 RCV003610182 RCV003610183 RCV003610191 RCV003610164 RCV003610350 RCV003610341 RCV003610227 RCV003610289 RCV003610267 RCV003610269 RCV003610323 RCV003610440 RCV003610477 RCV003608687 RCV003608715 RCV003610466 RCV003610498 RCV003608980 RCV003608826 RCV003608973 RCV003608922 RCV003608863 RCV003608893 RCV003609055 RCV003609090 RCV003609093 RCV003610507 RCV003609756 RCV003877667 RCV001850994 RCV000414789 RCV000558322 RCV000458278 RCV000477420 RCV000459384 RCV000473492 RCV000477338 RCV000470850 RCV000464019 RCV000461794 RCV000467813 RCV000465139 RCV000466769 RCV000469522 RCV000461102 RCV000467884 RCV000473031 RCV000477105 RCV000475074 RCV000457591 RCV000461636 RCV000471602 RCV001216304 RCV001227735 RCV000543539 RCV001385525 RCV000551617 RCV002523443 RCV002527065 RCV001387763 RCV001386362 RCV003502533 RCV001209294 RCV001386795 RCV000819395 RCV000628383 RCV000687492 RCV001208405 RCV001380172 RCV003609154 RCV005091044 RCV000030726 RCV000544181 RCV000530509 RCV000543470 RCV000532631 RCV000525712 RCV000539937 RCV000539775 RCV000525810 RCV000530698 RCV000550512 RCV000553155 RCV000535792 RCV000525437 RCV000535004 RCV000553910 RCV000578352 RCV005091804 RCV000988234 RCV001855303 RCV000628408 RCV000628402 RCV000628328 RCV000628399 RCV000628352 RCV000628398 RCV000628376 RCV000628393 RCV000628401 RCV000628377 RCV000628382 RCV000628411 RCV000628364 RCV000628343 RCV000628414 RCV000628407 RCV001386213 RCV000680079 RCV000681475 RCV000688465 RCV000693113 RCV000695355 RCV000698777 RCV000686206 RCV000700857 RCV000697093 RCV000700190 RCV000698999 RCV000697321 RCV000704375 RCV000703469 RCV000701045 RCV000699171 RCV000706911 RCV000700449 RCV000697396 RCV000705881 RCV000704357 RCV000760989 RCV000850487 RCV000800312 RCV000797049 RCV000809211 RCV000791725 RCV000812907 RCV000799780 RCV000824490 RCV000793246 RCV000796613 RCV000824437 RCV000797664 RCV000793963 RCV000813202 RCV000810777 RCV000798895 RCV000814877 RCV000799834 RCV000798863 RCV000803507 RCV000806252 RCV000820806 RCV000807302 RCV000806869 RCV000808584 RCV000798989 RCV000819307 RCV005092507 RCV000988232 RCV000995617 RCV001389799 RCV002549487 RCV001072024 RCV002549334 RCV001052001 RCV001058347 RCV001067321 RCV001046349 RCV001045030 RCV001053308 RCV001041166 RCV001040288 RCV001040762 RCV001069214 RCV001038755 RCV001049672 RCV001038046 RCV001043505 RCV001036334 RCV001063767 RCV001070250 RCV001047361 RCV001047917 RCV001055427 RCV001040660 RCV001389274 RCV001219566 RCV001216531 RCV001225061 RCV001218671 RCV001225075 RCV001215369 RCV001209463 RCV001210891 RCV001204019 RCV001204916 RCV001208602 RCV001209501 RCV001212512 RCV001235479 RCV001226680 RCV001226614 RCV001228101 RCV001226192 RCV001230421 RCV001238897 RCV001241702 RCV001239890 RCV001241345 RCV001225924 RCV001253184 RCV001253482 RCV001256187 RCV001267647 RCV002542855	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2118873547, rs2118030407, rs1060502268, rs2118332288, rs2118420718, rs2118429101, rs2118879343, rs2117958655, rs2118873472, rs2117976305, rs2118910332, rs2118302461, rs2538216536, rs2538040664, rs2538066579, rs2538055619, rs2538247904, rs2538269188, rs2538248061, rs2538247942, rs1554700724, rs2538268224, rs2538226569, rs2538233265, rs1841170844, rs2538206190, rs2538159743, rs2538192076, rs2118034227, rs2118033907, rs2118044447, rs2117955781, rs2117944381, rs2538095587, rs2118879154, rs2538079030, rs2538079565, rs2538069658, rs2538077890, rs2538020986, rs863224485, rs863224444, rs863225467, rs2538230250, rs864622120, rs864622212, rs878853856, rs878853849, rs2538021784, rs142340833, rs2538149907, rs2118391725, rs1554695110, rs2538383618, rs2118053654, rs2538134281, rs2538093992, rs2538093912, rs2538056290, rs2538382746, rs2538381518, rs1060502301, rs766313615, rs1060502280, rs1060502273, rs1060502292, rs772407797, rs1060502281, rs1064794260, rs1131690985, rs1131690976, rs1131691001, rs1131690990, rs1131690980, rs747234651, rs1131690997, rs1131690972, rs1131690975, rs1131690992, rs1131690991, rs863224650, rs1131690984, rs1131690999, rs1131690974, rs1131690978, rs1131691002, rs1085307752, rs1131690970, rs1554699612, rs1131690979, rs1131690973, rs1131690987, rs1131690969, rs1131690994, rs1131690971, rs1131690993, rs1131690981, rs1131690986, rs1131690995, rs1554708626, rs1131690968, rs1131690967, rs781768965, rs1554695039, rs1064793921, rs1432645175, rs1554708771, rs1554708753, rs1344258746, rs1554700647, rs1564051834, rs1564055612, rs1588605348, rs1554708751, rs1587693508, rs1588602262, rs1588535611, rs1588539623, rs1588568813, rs1588601051, rs1588602354, rs1588609575, rs1838315058, rs1588614178	RCV002357284 RCV003298631 RCV005702565 RCV005262457 RCV005465489 RCV005465488 RCV002432077 RCV002458664 RCV004044349 RCV002442973 RCV002257145 RCV002391386 RCV004047609 RCV002451965 RCV002322584 RCV002326185 RCV002355973 RCV002342114 RCV002353344 RCV002353407 RCV002360366 RCV002342892 RCV002385175 RCV002412457 RCV002387862 RCV002383342 RCV002407551 RCV002406197 RCV002430547 RCV002430596 RCV002419722 RCV002450580 RCV002433388 RCV002452865 RCV002431276 RCV002434992 RCV002441379 RCV002440025 RCV002437690 RCV003308313 RCV004020460 RCV002372181 RCV000492310 RCV003382992 RCV005712139 RCV002453736 RCV004020747 RCV001014123 RCV003171213 RCV005714973 RCV005264453 RCV004943181 RCV004515491 RCV004515492 RCV004523079 RCV004523091 RCV004523101 RCV004523102 RCV004523122 RCV004523124 RCV004523148 RCV000492750 RCV000492631 RCV004943898 RCV000492549 RCV000492757 RCV000492336 RCV000492344 RCV000492338 RCV000492276 RCV000492431 RCV000492119 RCV000492783 RCV000492461 RCV000492189 RCV000492224 RCV000492384 RCV000492511 RCV000492664 RCV000492480 RCV000492209 RCV000492414 RCV000492581 RCV000492484 RCV000492113 RCV000492240 RCV000492436 RCV000492636 RCV000492369 RCV000492509 RCV000492249 RCV000492082 RCV000492174 RCV000492367 RCV000492603 RCV000492205 RCV000492744 RCV000492759 RCV000492613 RCV000492083 RCV000492411 RCV000492530 RCV000492766 RCV000492162 RCV002413356 RCV002420332 RCV000566986 RCV002358749 RCV005712212 RCV002438624 RCV002331101 RCV002360678 RCV001010334 RCV005470487 RCV004944193 RCV006424670 RCV001016748 RCV005262167 RCV001019447 RCV001018819 RCV001015535 RCV001011029 RCV001010951 RCV001019366 RCV005463302 RCV002375275	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holoprosencephaly 7	Pathogenic; Likely pathogenic	rs864622212, rs199476093, rs2538056280, rs1060502277, rs766313615, rs1060502286, rs1554691658, rs1564051834, rs376353501	RCV003313946 RCV000008708 RCV003992092 RCV005049559 RCV003389327 RCV005398623 RCV000655932 RCV001830477 RCV005394664	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly	Likely pathogenic	rs1840113211	RCV001293387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Pathogenic	rs1564032829	RCV000722022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Pathogenic	rs1064793921	RCV005898530	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs2136632449, rs2136687071, rs1839115028	RCV006274212 RCV006274213 RCV006274130	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Overgrowth	Likely pathogenic	rs1840113211	RCV001293387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly	Likely pathogenic	rs1840113211	RCV001293387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Precocious puberty	Likely pathogenic	rs1840113211	RCV001293387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PTCH1-related disorder	Likely pathogenic; Pathogenic	rs2538402944, rs777191105, rs1840398430, rs1840109796, rs2538247234, rs2538244369, rs1060502301, rs1064793921, rs1554708753, rs1588568813, rs1840113211	RCV003335897 RCV004550601 RCV004723527 RCV004550825 RCV004548836 RCV004548840 RCV004551527 RCV004551583 RCV002225699 RCV004553555 RCV004548129	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Likely pathogenic	rs756069384	RCV001257545	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cardiovascular system morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Basal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL NEVUS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CENTRAL NERVOUS SYSTEM INFECTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disproportionate tall stature	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser syndrome 3	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary leiomyomatosis and renal cell cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Irido-corneo-trabecular dysgenesis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lens luxation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma SHH activated	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma SHH activated and TP53 wild-type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microform holoprosencephaly	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polydactyly of a triphalangeal thumb	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, PREAXIAL II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger anomaly	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIEGER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	-; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER-BIPOLAR TYPE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sellar metastasis from primary bronchial carcinoid tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turner syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine leiomyoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
9q22.3 Microdeletion	9q22.3 Microdeletion	ORPHANET_DG	23169491		★☆☆☆☆ Found in Text Mining only
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17461467, 21234763, 26997450		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	16595592, 24559275, 28816539		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	BEFREE	23371028, 30349383		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	22077640		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10646882, 11463498, 15126554, 17639054, 24612059, 26997450		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10375116, 24702198, 27623068, 28314770, 9506763, 9841749		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331	Associate	★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	16596257		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10375116, 11130178, 11283316, 11585731, 11772307, 12175339, 12810644, 12845631, 14500378, 15521068, 15652709, 15925443, 16260494, 16934747, 18347096, 19147535, 19213072, 19533801, 19805107, 19966297, 20214787, 21188540, 21368767, 21437245, 22177103, 23389290, 24167280, 25164012, 25263791, 25403219, 25885794, 26290144, 26935062, 26997276, 27444290, 27802424, 28328116, 28618224, 28620006, 28986380, 29079783, 30452905, 30483126, 30657775, 31204176, 31244888, 31527798		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096, 19155313, 19213072		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	16109989, 19473442, 22221699, 22559979, 24930892		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	16109989		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	22952776, 27386018, 33144428	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	10934169, 19809427, 25260367, 9121114		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10934169, 18498667		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	10951397, 12729478, 15880523, 19370508, 24295207, 25456951, 27259715, 29976183		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	24768363	Inhibit	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24961235, 25552484, 31834207		★☆☆☆☆ Found in Text Mining only
ANTERIOR SEGMENT DYSGENESIS 5	Anterior segment dysgenesis	CLINVAR_DG	26893459		★☆☆☆☆ Found in Text Mining only
ANTERIOR SEGMENT DYSGENESIS 7	Segment dysgenesis	GENOMICS_ENGLAND_DG	26893459		★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Aphakia, congenital primary	Congenital primary aphakia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21397937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	25997986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	20223881, 21059263	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	10951397, 24295207		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19500021	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20447069		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	11747322, 16405407		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	20138038		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	BEFREE	18543049, 29111235		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	12007715, 15459969, 15592520, 16088933, 16203740, 16419085, 16645598, 16675912, 16780502, 18059486, 18068337, 18272036, 18302678, 18436435, 18502968, 19002359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal cell carcinoma	Carcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA, SOMATIC	Carcinoma, Somatic	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal cell nevus	Nevus	BEFREE	15925443, 17214858		★☆☆☆☆ Found in Text Mining only
Basal cell nevus	Nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	10200051, 10375116, 10554356, 10649784, 10653132, 10838143, 10868476, 10874314, 11130178, 11277394, 11457640, 12068298, 12175781, 12423429, 12604725, 12700822, 12925203, 14626660, 14699618, 14724726, 14871823, 14987156, 15042702, 15308259, 15347344, 15565302, 15592520, 15690381, 16024850, 16084949, 16088933, 16203740, 16231297, 16294371, 16301862, 16419085, 16596257, 16675912, 16733713, 16906569, 16931872, 16934747, 17021131, 17214858, 17328283, 17632781, 17950424, 18272036, 18302678, 18329553, 18403589, 18476955, 18502968, 18510667, 18830227, 19008023, 19278434, 19287498, 19320658, 19362041, 19394325, 19439922, 19473442, 19521425, 19533801, 19557015, 20051370, 20068110, 20371205, 20546211, 20875876, 21188685, 21368767, 21430703, 21507611, 21514272, 21651513, 21693067, 22177103, 22190277, 22559979, 22572734, 22711650, 22829011, 22952776, 23317547, 23389290, 23479190, 23725561, 23897749, 24124115, 24204797, 24369017, 24486987, 24517962, 24659465, 24837096, 24840883, 24941978, 25117323, 25403219, 25458233, 25576868, 25727044, 26413810, 26544948, 26782978, 26822128, 26890308, 27241746, 27444290, 27561271, 27658957, 28342698, 28620006, 28686751, 28733979, 28915250, 29039452, 29081410, 29111235, 29230040, 29277811, 29498494, 29544218, 29575684, 29930296, 30191873, 30291846, 30368514, 30371535, 30411536, 30520020, 30610186, 30997576, 31578813, 31725470, 8981943, 9041183, 9415689, 9439661, 9931336		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CLINGEN_DG	10545995, 12900905, 14570707, 18285427, 18477452, 19533801, 8658145, 8681379, 9262482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	10554356, 10649784, 10665653, 12700822, 12925203, 14987156, 15545745, 16024850, 16301862, 16405370, 16675912, 16909134, 17021131, 18329553, 18353202, 18830227, 19287498, 20068110, 20223301, 20609239, 20875327, 21693067, 22190277, 22952776, 23669591, 24369017, 24517962, 24737103, 24941978, 24942795, 25117323, 25727044, 25826662, 25940061, 26544948, 26694869, 26890308, 27448602, 27513585, 28915250, 29088246, 29111235, 29230040, 29498494, 29575684, 30181650, 30191873, 30411536, 30754660, 31578813, 32436863, 32564428, 33441926, 33542540, 33860896, 33886530, 33893086, 33960642, 34239189, 37283107, 38157930, 38553309, 40670919, 8981943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	UNIPROT_DG	11231326, 15459969, 8840969, 8981943, 9620294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CLINVAR_DG	11457640, 12655573, 16088933, 16301862, 16419085, 16508594, 17021131, 22952776, 24204797, 24814739, 25131638, 8658145, 8681379, 8981943, 9415689, 9620294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	GENOMICS_ENGLAND_DG	13851319, 19557015, 8658145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	LHGDN	15459969, 16088933, 16203740, 16419085, 16675912, 17258529, 18068337, 18302678, 18436435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CTD_human_DG	16405370, 16936257, 18539553, 19287498, 25559776, 25876211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	ORPHANET_DG	19032739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	31725470	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	BEFREE	22158616, 27219469		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	26623561		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22815529		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26890308	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	26890308	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	21707705	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	17632781		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly type A1	Brachydactyly	Pubtator	21537345	Associate	★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	BEFREE	19252479		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31639285	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	9458162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	9458162	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	9581815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12516098, 16855373, 17287253, 17295047, 18990233, 27105531, 28418883, 31704974		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Neoplasms	Breast neoplasm	Pubtator	16855373, 18636275, 18990233, 19414322, 31704974, 37628631	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	30833624		★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	15588381		★☆☆☆☆ Found in Text Mining only
Calcification of falx cerebri	Calcification of falx cerebri	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	27448602	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24368541, 24384722	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10566678, 12684664, 15126554, 16290057, 17639054, 19147628, 22076568, 22803838, 23746767, 24973511, 26997450, 9121114, 9192811		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11159175, 11348463, 11982765, 12700822, 16909134, 18754037, 18854826, 19287498, 19642973, 19726763, 20875327, 22201935, 23774526, 24369017, 24942795, 25306392, 30610186, 30754660, 31120550, 31554387, 31756206, 32319607, 32382535, 32409749, 32564428, 33441926, 33509032, 33542540, 33860896, 33928395, 34239189, 34284772, 36788060	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22815529		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25520033		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24961235	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15841082, 33112109	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	20609239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11286632, 16778829, 26479420, 30379908	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10029063, 10838143, 10874304, 11159175, 11174390, 11348463, 11684448, 11841368, 12007715, 12068298, 12203113, 12410703, 12423429, 12652194, 12786818, 12845631, 12907651, 14521217, 14647422, 14871823, 15521068, 15534865, 15592520, 15701081, 15888139, 15925443, 16204023, 16207184, 16301862, 16484983, 16645598, 16934747, 17214858, 17230190, 17328283, 17597182, 17597822, 17631878, 18272036, 18348455, 18403589, 18476955, 18543049, 18754037, 18854826, 19278434, 19287498, 19642973, 19726763, 20051370, 20346027, 20546211, 20849535, 20858761, 21430703, 21558397, 21699520, 22177103, 22201935, 22313357, 22559979, 22952776, 23052377, 23349881, 24131384, 25164012, 25207368, 25207369, 25306392, 25395299, 25403219, 25842978, 26822128, 26950094, 28010757, 28368926, 29111235, 29186568, 29356994, 29463581, 30291846, 30520020, 30649745, 31243642, 31323143, 31442334, 31506465, 31554387, 31641848, 31693503, 31725470, 31756206, 31775795, 7533525, 7711724, 8658145, 9012465, 9041183, 9205058, 9354420, 9425597, 9595042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	18854826, 26950094, 9581815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21206974, 22201935, 29158468, 30523702		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	24335643		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	32209061	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac fibroma	Cardiac fibroma	BEFREE	18329553, 26564558		★☆☆☆☆ Found in Text Mining only
Cardiac fibroma	Cardiac fibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiac rhabdomyoma	Cardiac rhabdomyoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	35749127	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Celiac Disease	Celiac disease	Pubtator	23378984	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Primitive Neuroectodermal Tumor	Cerebral Primitive Neuroectodermal Tumor	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25330948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	25330948		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25330948		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10375116, 11130178, 11283316, 11585731, 11772307, 12175339, 12810644, 12845631, 14500378, 15521068, 15652709, 15925443, 16260494, 16934747, 18347096, 19147535, 19213072, 19533801, 19805107, 19966297, 20214787, 21188540, 21368767, 21437245, 22177103, 23389290, 24167280, 25164012, 25263791, 25403219, 25885794, 26290144, 26935062, 26997276, 27444290, 27802424, 28328116, 28618224, 28620006, 28986380, 29079783, 29356994, 30452905, 30483126, 30657775, 31204176, 31244888, 31527798		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096, 19155313, 19213072		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24563076, 36807728	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	16400033, 18543049		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	18543049		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	27329764		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22130798		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30833624		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16405370, 20583170	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	19937600		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	19937600	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	16431664, 310801		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18612427, 21234763, 21811255, 22945423, 24368541, 24612059		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17461467, 22945423		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17461467		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17461467, 20230186, 21811255, 24368541, 28675510, 34028566, 36356413	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15188460, 22558328, 9012465		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ 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 fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	16015630	Associate	★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12378516		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	16596257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	Pubtator	27562488	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostoses	Craniosynostosis	Pubtator	31578813	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	9703361	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24858900		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	8835823		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25385442, 25992955		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30306574		★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	20875327	Associate	★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	15659790, 24496080		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	LHGDN	17487419		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	16400626, 17328283		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096, 19155313, 19213072		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10868476, 24492243		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	18830227, 30411536, 30623622	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31726413		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	12729478, 22690899, 24325646, 24405857, 28704099, 29446856		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	24297113		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21266456, 23740250, 27444290		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	16301862	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	21567912		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11941477, 12879481, 15545745, 17001668, 24204797, 24529220, 25403219, 26356331, 26604511, 8840969, 8981943, 9096761, 9231911		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	21567912		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	18353202, 36788060	Associate	★☆☆☆☆ Found in Text Mining only
Eccrine dermal cylindroma	Cylindromatosis	BEFREE	22077640		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	16294371, 21618411		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30521558		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30521558	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	15831286	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoblastoma	Ependymoblastoma	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15805664		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29158468		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	16207184		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31200527		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31200527		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34663841	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16475698, 25839328, 26857264, 34663841	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	16475698	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	24846856		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	16301862	Associate	★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	BEFREE	21049463		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23482805		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	24124115, 26782978		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	LHGDN	17487419		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27588491		★☆☆☆☆ Found in Text Mining only
Focal Dermal Hypoplasia	Focal dermal hypoplasia	Pubtator	24814739, 25117323, 31533758, 33542540, 33886530, 34785065, 35932013	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	16889486, 20130073, 28261999, 29582677, 29683529		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	12192544, 12729478, 21778212, 22690899, 24510380, 24559275, 27207655, 28017809, 28114855, 29046324, 29108474, 29731874, 30673845		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	26768321		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19642973, 29886801		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19642973, 25950952	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25775002, 29886801		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28390897		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30795814	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	18830227		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gorlin syndrome	Gorlin Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Graves Disease	Graves Disease	BEFREE	12684664		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24814739	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11747322, 16405407, 16595592, 20012784, 31686862		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	BEFREE	12652194		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	19177589		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	12072433, 18754037, 24962990, 25085974, 25978455, 27646982, 28390897, 28573530, 28877722, 28939119, 29995851, 31247512, 31373354, 31756206		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	29230040		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24073265, 27889765		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24073265, 27889765	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	11941477, 17103456, 18830227, 21802063, 29575684, 30936464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	18830227, 29575684, 30936464, 38096238	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY 7	Holoprosencephaly	UNIPROT_DG	11941477, 17001668, 17096318		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 7	Holoprosencephaly	GENOMICS_ENGLAND_DG	11941477, 26893459, 8658145		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 7	Holoprosencephaly	BEFREE	18830227		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holoprosencephaly 7	Holoprosencephaly	Pubtator	18830227	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 7	Holoprosencephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 7	Holoprosencephaly	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hurthle Cell Tumor	Tumor	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	29983323	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	29109083		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	9703361	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16804411		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	16804411		★☆☆☆☆ Found in Text Mining only
Hyperopic astigmatism	Hyperopic astigmatism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	23766265	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25826662	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23023967		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	16733713		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30181650	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	BEFREE	31578813		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	10764709		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	18674957, 19473442, 21138481, 23951062, 24204797, 26782978, 28489259, 29103753, 29272070		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	23169491		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23169491, 33112109	Associate	★☆☆☆☆ Found in Text Mining only
Lagopthalmos	Lagopthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	30379908	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17652007		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37021926	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18538319, 19015273, 19212688, 22911366, 26189965, 30415263, 30582981		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19015273		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	20010835	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23108047	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21861243, 24710823, 30903583	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	30181650		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	21316601		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	23826113		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12516098, 16855373, 17287253, 17295047, 18990233, 27105531, 28418883, 31704974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30521558		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31200527		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25520033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21206974, 22201935, 30523702		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16804411, 16826192, 18422746, 28977895, 31611949		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	19077462		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28877722		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	10838143, 12700822, 29869097		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16258256, 19673023, 22456124, 23371028		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10787193, 11344225, 12240753, 12605035, 15126554, 16331264, 16889486, 17891236, 17891249, 19147628, 19495791, 19785523, 21878896, 22136268, 22961909, 24811481, 24858900, 25333496, 25456951, 25627462, 26265449, 26354077, 27207655, 29584698, 9841749, 9916927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22815529		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10868476, 11130178, 11344225, 11443191, 12057919, 12072433, 14647422, 15297606, 15592520, 15905200, 16855373, 18757433, 20130073, 20152358, 20858761, 21206974, 21618411, 21807000, 21953141, 22442268, 23837487, 24369017, 24486987, 24559275, 24794415, 24840883, 25775002, 26572991, 27689252, 28302441, 28986380, 29356994, 29552294, 29683529, 29731874, 30610878, 31506465, 31597162, 31627846, 31821747, 9041183, 9818027, 9889797		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25330948		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12516098, 17295047		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	21267004		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	25465739		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	15277225, 25456951, 28089742, 28585679		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10375116, 10874314, 11106272, 11130178, 11283316, 11585731, 11772307, 12068298, 12175339, 12810644, 12845631, 14500378, 15521068, 15652709, 15925443, 16260494, 16934747, 17230190, 18347096, 19147535, 19213072, 19533801, 19805107, 19966297, 20214787, 21042217, 21188540, 21368767, 21437245, 22177103, 23389290, 24167280, 24871706, 25164012, 25263791, 25403219, 25859932, 25885794, 26290144, 26935062, 26997276, 27444290, 27802424, 27815386, 28328116, 28618224, 28620006, 28986380, 29079783, 29582169, 30452905, 30483126, 30657775, 31204176, 31244888, 31527798, 9041183, 9187099, 9354420, 9931336		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	Pubtator	16301862, 18068533, 19726761, 19966297, 21059263, 21325292, 22820256, 22832583, 25306392, 25940061, 26290144, 29753700, 32056145, 32296180, 32436863, 33172502, 33893086, 33978203, 36288719, 38438322	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	LHGDN	16934747		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096, 19155313, 19213072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloepithelioma	Medulloepithelioma	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	18347096, 19155313, 19213072		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALY, AUTOSOMAL DOMINANT	Megalencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	10213487		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15701081, 24858900, 26024388, 30110910, 7634433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	33810240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	18347096, 19155313, 19213072		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	12604725		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	33860896	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	30936464		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23323969		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	18830227		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	18830227	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmos	Microphthalmos	Pubtator	16024850, 33418956	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	BEFREE	21567912		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	19587378		★☆☆☆☆ Found in Text Mining only
Monosomy 9q22.3	Monosomy 9q22.3	Orphanet			★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	16405407, 24559275, 29108474		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	23580576		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22821765, 26935956, 29262596		★☆☆☆☆ Found in Text Mining only
Multiple self-healing squamous epithelioma	Multiple Self-Healing Epithelioma	BEFREE	9439661		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28530521		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27241746		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28704552		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31726413		★☆☆☆☆ Found in Text Mining only
Myxofibroma	Myxofibroma	BEFREE	31362756		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10029063, 10367631, 10375116, 10564585, 10762630, 10874314, 10934169, 10951397, 11130178, 11283316, 11443191, 12068298, 12072433, 12114746, 12118368, 12203113, 12410703, 12444552, 12516098, 12534735, 12810644, 1381340, 14555660, 1457350, 14647422, 14871823, 15126554, 15188460, 15256053, 15313589, 15375577, 15482598, 15502856, 15521068, 15534865, 15652709, 15925443, 16003737, 16084949, 16207184, 16260494, 16294371, 16419085, 16484983, 16772343, 16777989, 16778204, 16804411, 17019046, 17230190, 17295047, 17328283, 17597182, 17786355, 18079153, 18329553, 18347096, 18502968, 18538319, 18543049, 18674957, 18769486, 18955550, 19015273, 19147535, 19200615, 19213072, 19287498, 19439922, 19495791, 19555497, 19642973, 19726761, 19805107, 20001716, 20004133, 20068110, 20371205, 20854070, 21138481, 21430703, 21618411, 21699520, 21865371, 21889114, 21907124, 21947652, 22076568, 22186138, 22357618, 22456124, 22558328, 22815529, 22911366, 22945423, 23052377, 23482805, 23725561, 23780909, 23885719, 24063979, 24124115, 24368541, 24417340, 24492243, 24659465, 24702198, 24871706, 24930892, 24973511, 25296753, 25330948, 25727044, 25803323, 25940061, 2594368, 26413810, 26420814, 26839306, 26935062, 26935956, 27105531, 27229128, 27259715, 27623068, 27815386, 27992500, 28315434, 28365245, 28550398, 28877722, 29103753, 29111235, 29187450, 29200967, 29368294, 29378965, 29435461, 29453315, 29569031, 29582677, 29886801, 29923169, 30026381, 30084677, 30520020, 30523702, 30657775, 30851890, 30858923, 31038235, 31042674, 31168089, 31327063, 31597162, 31664194, 31695609, 7533525, 7829076, 8352281, 8658145, 8784097, 9012465, 9052406, 9140104, 9187099, 9315093, 9354420, 9425597, 9466701, 9669285, 9764827, 9811335, 9889797		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10200051, 10890722, 15712338, 16906569, 18502968, 19362041, 20068110, 21834049, 24814739, 8981943, 9620294		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23169491, 24124115, 30371535		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21651513, 23761049		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10762630, 1437145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	20830616, 28521285	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	10564585, 9205058		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26479420		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	29104107		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	10213487		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	12955717, 28332184		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	28332184		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19200615, 22115706, 22357618, 24710823, 29435142		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	17287253		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28233033		★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	ORPHANET_DG	19032739		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	18502968, 20004133, 20690502, 22221699, 22952776, 24204797, 26890308, 31725470		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	LHGDN	18502968		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21947652		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orbital cyst	Orbital cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	16405370, 19937600, 28232668	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26890308, 31275456	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31452264		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27352193		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27352193, 31175097, 35057767	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	39457084	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	22201935		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16301862, 33860896, 35775118	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Fibromata	Ovarian fibromata	BEFREE	15659790		★☆☆☆☆ Found in Text Mining only
Ovarian Fibromata	Ovarian fibromata	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21206974, 23313819, 26782978, 30523702		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20223301, 22201935, 36205138	Associate	★☆☆☆☆ Found in Text Mining only
Pallister-Hall syndrome	Pallister-Hall Syndrome	BEFREE	10077605		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16804411, 16826192, 18422746, 28977895, 31611949		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	19077462		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	19232458, 22076568		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20814245, 24961235, 30716324	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Pseudocyst	Pancreatic Pseudocyst	BEFREE	16804411		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	16804411		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10367623, 10646664, 10646882, 10656692, 10690905, 10720057, 10741739, 10910073, 10931090, 10934169, 10951397, 11117782, 11232035, 11298625, 11443191, 11707626, 11747322, 12383219, 12444552, 12534735, 12574236, 12605035, 12679489, 12943231, 14555660, 15126554, 15184868, 15277225, 15356021, 15502856, 15687339, 15785245, 16015630, 16889486, 17156473, 17464312, 17727338, 17786355, 18079153, 18261626, 18406659, 18474871, 18505566, 19060924, 19495791, 2000227, 20012784, 20447069, 20615140, 20839015, 20950194, 20951315, 21411301, 21498916, 21807000, 22150560, 22558328, 22690899, 22961909, 23128507, 23461584, 23885719, 24510380, 24702198, 24858900, 24957039, 25456951, 2594368, 26784937, 26825960, 26918339, 27732329, 27997908, 28314770, 28374549, 28534687, 28558632, 28673327, 28740507, 28816539, 28920749, 29349484, 29489673, 29498921, 30084677, 30254191, 30289307, 30560718, 30648353, 30659000, 30733375, 31327063, 31461359, 7753554, 8275421, 8570194, 8634704, 8689603, 8780751, 8784097, 9067436, 9354893, 9508203, 9510121, 9516913, 9528832, 9589668, 9669285, 9768676, 9811335, 9814501, 9848713, 9889797, 9935226		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic Syndromes	BEFREE	29446856		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	11788678		★☆☆☆☆ Found in Text Mining only
Partial or complete agenesis of corpus callosum	Partial Or Complete Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus after birth at term	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Periauricular skin pits	Periauricular skin pits	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30368514		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	30181650		★☆☆☆☆ Found in Text Mining only
Progressive congenital scoliosis	Congenital Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28877722		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15482598		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15482598, 29339090	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28877722	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32769486	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12635140		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12378516		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27329764		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	35775118	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	16294371		★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	Pubtator	32187044	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11130178, 12845631, 15925443, 16254458, 16294371, 19213072, 21618411, 21674124, 29230040, 31244888		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	CTD_human_DG	19155313		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	21618411	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	21618411, 29230040, 32087612	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24741597, 28573530, 29748156		★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	CLINVAR_DG	26893459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Syndrome	Robinow Syndrome	BEFREE	21693067		★☆☆☆☆ Found in Text Mining only
Robinow syndrome, autosomal recessive	Robinow Syndrome	BEFREE	17632781		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	30936464		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	32067683	Associate	★☆☆☆☆ Found in Text Mining only
Schilbach-Rott Syndrome	Schilbach-Rott Syndrome	ORPHANET_DG	30936464		★☆☆☆☆ Found in Text Mining only
Schilbach-Rott syndrome	Schilbach-Rott Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	28889339		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	29423837		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	29423837	Associate	★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe expressive language delay	Expressive language delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	28342698		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe receptive language delay	Delayed speech and language development	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	12118368, 15888139, 28799948		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33509032	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	17631878, 18854826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	9581815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33880365	Associate	★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	23761049		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	BEFREE	21651513		★☆☆☆☆ Found in Text Mining only
Spina Bifida, Open	Spina Bifida	BEFREE	21651513		★☆☆☆☆ Found in Text Mining only
Spongioblastoma	Spongioblastoma	CTD_human_DG	9581815		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16484983, 17230190, 19200615, 21889114, 29200967, 31207229, 9140104, 9496908		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16475698		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31744214	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	11286632		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21861228, 23482805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	30379908		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16258256, 22456124, 23371028		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15905200		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	23349881		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23349881, 26857264	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	BEFREE	23897749		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	15521068		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11747322, 12937150, 15502856, 16015630, 16203990, 17156473, 17464312, 17727338, 18474871, 18505566, 19500021, 21498916, 22457234, 24798740, 24810336, 24957039, 27058903, 28069693, 28417935, 30659000, 30903583, 9528832	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	27207655, 29731874		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10787193, 10934169, 11344225, 12240753, 12605035, 15126554, 15368067, 15375577, 15687339, 16331264, 16889486, 17891236, 17891249, 19147628, 19495791, 19785523, 19878585, 21878896, 22136268, 22961909, 23414134, 23746767, 24811481, 24858900, 25333496, 25456951, 25497869, 25627462, 26265449, 26354077, 27207655, 29046324, 29584698, 8784097, 9121114, 9508203, 9841749, 9916927		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	9508203		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	1717926, 20130073, 28261999		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Oncocytic Adenoma	Thyroid Gland Oncocytic Adenoma	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Thyroid Hurthle Cell Carcinoma	Thyroid Carcinoma	BEFREE	26354077		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10934169, 11344225, 11443191, 11788678, 12114746, 12240753, 12444552, 12605035, 1381340, 15126554, 15368067, 15788648, 16015630, 16331264, 16889486, 17420723, 17891236, 17891249, 18505566, 19147628, 19495791, 19766698, 19785523, 21878896, 22136268, 22961909, 24811481, 25333496, 25456951, 25627462, 26265449, 26354077, 26960768, 27207655, 29584698, 8275421, 9506763, 9814501, 9841749, 9861322		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24810336, 26695504, 26960768, 32737449, 9916927	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	11443191, 12057919, 16028414, 17381488, 17727338, 20652698, 21173509, 21411555, 22770943, 24074409, 25333496, 28537891, 28616727, 31461359, 9508203		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	16595592, 20447069		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	18505566, 20703476	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	18505566	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	9764827		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10367623, 12076694, 16909134, 19243411, 19439922, 29498494, 9415689		★☆☆☆☆ Found in Text Mining only
Trichotillomania	Trichotillomania	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	15368067, 18498667, 31319387		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21861243	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25330948	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22028038, 25330948	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24124115, 26782978		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23766265	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	17950424		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	LHGDN	17950424		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	23169491	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	11684448		★☆☆☆☆ Found in Text Mining only