DHCR7 (7-dehydrocholesterol reductase)

Gene

• Entrez ID: 1717
• Gene name: 7-dehydrocholesterol reductase
• Gene symbol: DHCR7
• Synonyms (NCBI Gene): SLOS
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs949177	A>C,G,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs11555217	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, stop gained, coding sequence variant
rs28938174	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61757582	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs72954276	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs74909468	G>A	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs80338853	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338855	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs80338856	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338857	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338858	G>A,C	Likely-benign, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs80338859	C>A	Pathogenic	Missense variant, coding sequence variant
rs80338860	G>A	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338862	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338863	C>G,T	Pathogenic	Splice acceptor variant
rs80338864	C>G,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs104886033	T>C,G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, initiator codon variant
rs104886035	G>A	Pathogenic	Missense variant, coding sequence variant
rs104886039	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs104886040	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs104886041	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs104894212	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894213	C>T	Pathogenic	Coding sequence variant, stop gained
rs121909764	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909765	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909766	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909767	C>T	Likely-pathogenic	Initiator codon variant, missense variant
rs121909768	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912195	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs138659167	C>A,G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, splice acceptor variant, missense variant
rs139721775	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, missense variant, 3 prime UTR variant
rs140648594	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs140791666	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, 3 prime UTR variant
rs142808899	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs143312232	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs144562471	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs145084285	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs145284180	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147038941	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147424205	G>A	Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147850435	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, coding sequence variant
rs148468879	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant
rs149974099	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150603941	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs184297154	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs200334114	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201270451	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs369654651	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371302153	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs372886043	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373306653	A>G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs398123607	C>T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs535561852	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs557097410	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, 3 prime UTR variant, coding sequence variant
rs565893436	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs567600444	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs745498103	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs745595242	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746482788	TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs747827699	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs749076525	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs750345068	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs751604696	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs753960624	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs755941916	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs756564881	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs759720450	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs760428437	C>T	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs766495775	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs769639753	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs770819693	T>A	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs773134475	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs774187452	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs774291653	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs775034584	A>G,T	Likely-pathogenic	3 prime UTR variant, terminator codon variant, stop lost
rs775575609	T>C	Likely-pathogenic	Splice acceptor variant
rs777425801	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs777517985	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs779709646	C>A,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs779896782	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs781026169	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781687341	C>A,G,T	Pathogenic-likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs786200926	T>A,C	Pathogenic, uncertain-significance	Intron variant
rs886041354	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886042362	G>-	Uncertain-significance, likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1032242817	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1046560765	A>G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1057516375	G>T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057516493	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057516517	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516610	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs1057516618	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516783	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516920	A>T	Likely-pathogenic	Splice donor variant
rs1057516973	C>A	Likely-pathogenic	Splice donor variant
rs1057516977	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517070	A>C	Likely-pathogenic	Splice donor variant
rs1057517210	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517307	C>T	Likely-pathogenic	Splice acceptor variant
rs1085307925	T>C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1085307926	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1173707321	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs1318653026	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1331331095	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1393186135	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1451108193	C>G	Likely-pathogenic	Splice acceptor variant
rs1469918162	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1471145742	C>A,G	Likely-pathogenic	Splice donor variant
rs1555145605	G>T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1555145646	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555145859	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555145862	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555145867	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1555145874	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1555145877	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555146023	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555146618	T>C	Likely-pathogenic	Splice acceptor variant
rs1565586067	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1591107040	GC>CA	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs1591107062	CTC>G	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs1591107421	C>T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1591109892	C>T	Pathogenic	Coding sequence variant, stop gained
rs1591111319	->A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016653	hsa-miR-425-5p	Sequencing	20371350
MIRT016982	hsa-miR-335-5p	Microarray	18185580
MIRT025254	hsa-miR-34a-5p	Proteomics	21566225
MIRT052760	hsa-miR-1260b	CLASH	23622248
MIRT543741	hsa-miR-451b	PAR-CLIP	21572407
MIRT543740	hsa-miR-6853-5p	PAR-CLIP	21572407
MIRT543739	hsa-miR-7-5p	PAR-CLIP	21572407
MIRT543738	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT543737	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT543736	hsa-miR-1268a	PAR-CLIP	21572407
MIRT543735	hsa-miR-1268b	PAR-CLIP	21572407
MIRT543734	hsa-miR-4766-3p	PAR-CLIP	21572407
MIRT543733	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT543732	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT440822	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440822	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT543741	hsa-miR-451b	PAR-CLIP	21572407
MIRT543740	hsa-miR-6853-5p	PAR-CLIP	21572407
MIRT543739	hsa-miR-7-5p	PAR-CLIP	21572407
MIRT543738	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT543737	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT543736	hsa-miR-1268a	PAR-CLIP	21572407
MIRT543735	hsa-miR-1268b	PAR-CLIP	21572407
MIRT543734	hsa-miR-4766-3p	PAR-CLIP	21572407
MIRT543733	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT543732	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT934498	hsa-miR-1287	CLIP-seq
MIRT934499	hsa-miR-145	CLIP-seq
MIRT934500	hsa-miR-302a	CLIP-seq
MIRT934501	hsa-miR-302b	CLIP-seq
MIRT934502	hsa-miR-302c	CLIP-seq
MIRT934503	hsa-miR-302d	CLIP-seq
MIRT934504	hsa-miR-302e	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT934506	hsa-miR-34a	CLIP-seq
MIRT934507	hsa-miR-34c-5p	CLIP-seq
MIRT934508	hsa-miR-372	CLIP-seq
MIRT934509	hsa-miR-373	CLIP-seq
MIRT934510	hsa-miR-374c	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934512	hsa-miR-3925-3p	CLIP-seq
MIRT934513	hsa-miR-4434	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934515	hsa-miR-4480	CLIP-seq
MIRT934516	hsa-miR-449a	CLIP-seq
MIRT934517	hsa-miR-449b	CLIP-seq
MIRT934518	hsa-miR-4516	CLIP-seq
MIRT934519	hsa-miR-4531	CLIP-seq
MIRT934520	hsa-miR-4638-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934522	hsa-miR-4722-3p	CLIP-seq
MIRT934523	hsa-miR-4731-5p	CLIP-seq
MIRT934524	hsa-miR-4786-5p	CLIP-seq
MIRT934525	hsa-miR-512-3p	CLIP-seq
MIRT934526	hsa-miR-515-5p	CLIP-seq
MIRT934527	hsa-miR-520a-3p	CLIP-seq
MIRT934528	hsa-miR-520b	CLIP-seq
MIRT934529	hsa-miR-520c-3p	CLIP-seq
MIRT934530	hsa-miR-520d-3p	CLIP-seq
MIRT934531	hsa-miR-520e	CLIP-seq
MIRT934532	hsa-miR-548al	CLIP-seq
MIRT934533	hsa-miR-552	CLIP-seq
MIRT934534	hsa-miR-655	CLIP-seq
MIRT934535	hsa-miR-720	CLIP-seq
MIRT934536	hsa-miR-766	CLIP-seq
MIRT934537	hsa-miR-769-5p	CLIP-seq
MIRT934538	hsa-miR-1178	CLIP-seq
MIRT934539	hsa-miR-1204	CLIP-seq
MIRT934540	hsa-miR-1226	CLIP-seq
MIRT934541	hsa-miR-1243	CLIP-seq
MIRT934542	hsa-miR-1245b-3p	CLIP-seq
MIRT934543	hsa-miR-1255a	CLIP-seq
MIRT934544	hsa-miR-1255b	CLIP-seq
MIRT934545	hsa-miR-125a-5p	CLIP-seq
MIRT934546	hsa-miR-125b	CLIP-seq
MIRT934547	hsa-miR-1266	CLIP-seq
MIRT934548	hsa-miR-1268	CLIP-seq
MIRT934498	hsa-miR-1287	CLIP-seq
MIRT934549	hsa-miR-134	CLIP-seq
MIRT934550	hsa-miR-142-5p	CLIP-seq
MIRT934499	hsa-miR-145	CLIP-seq
MIRT934551	hsa-miR-1976	CLIP-seq
MIRT934552	hsa-miR-199a-5p	CLIP-seq
MIRT934553	hsa-miR-199b-5p	CLIP-seq
MIRT934500	hsa-miR-302a	CLIP-seq
MIRT934501	hsa-miR-302b	CLIP-seq
MIRT934502	hsa-miR-302c	CLIP-seq
MIRT934503	hsa-miR-302d	CLIP-seq
MIRT934504	hsa-miR-302e	CLIP-seq
MIRT934554	hsa-miR-3118	CLIP-seq
MIRT934555	hsa-miR-3128	CLIP-seq
MIRT934556	hsa-miR-3130-3p	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT934557	hsa-miR-3168	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934559	hsa-miR-3178	CLIP-seq
MIRT934560	hsa-miR-331-5p	CLIP-seq
MIRT934561	hsa-miR-340	CLIP-seq
MIRT934506	hsa-miR-34a	CLIP-seq
MIRT934507	hsa-miR-34c-5p	CLIP-seq
MIRT934562	hsa-miR-3647-3p	CLIP-seq
MIRT934563	hsa-miR-3654	CLIP-seq
MIRT934564	hsa-miR-3669	CLIP-seq
MIRT934565	hsa-miR-3689a-3p	CLIP-seq
MIRT934566	hsa-miR-3689c	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934568	hsa-miR-370	CLIP-seq
MIRT934508	hsa-miR-372	CLIP-seq
MIRT934509	hsa-miR-373	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934569	hsa-miR-3915	CLIP-seq
MIRT934570	hsa-miR-3923	CLIP-seq
MIRT934512	hsa-miR-3925-3p	CLIP-seq
MIRT934571	hsa-miR-3928	CLIP-seq
MIRT934572	hsa-miR-4265	CLIP-seq
MIRT934573	hsa-miR-4270	CLIP-seq
MIRT934574	hsa-miR-4271	CLIP-seq
MIRT934575	hsa-miR-4280	CLIP-seq
MIRT934576	hsa-miR-4296	CLIP-seq
MIRT934577	hsa-miR-4302	CLIP-seq
MIRT934578	hsa-miR-4319	CLIP-seq
MIRT934579	hsa-miR-4322	CLIP-seq
MIRT934580	hsa-miR-4417	CLIP-seq
MIRT934581	hsa-miR-4436b-3p	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934582	hsa-miR-4441	CLIP-seq
MIRT934515	hsa-miR-4480	CLIP-seq
MIRT934516	hsa-miR-449a	CLIP-seq
MIRT934517	hsa-miR-449b	CLIP-seq
MIRT934583	hsa-miR-4518	CLIP-seq
MIRT934520	hsa-miR-4638-3p	CLIP-seq
MIRT934584	hsa-miR-4648	CLIP-seq
MIRT934585	hsa-miR-4654	CLIP-seq
MIRT934586	hsa-miR-4670-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934587	hsa-miR-4680-5p	CLIP-seq
MIRT934588	hsa-miR-4707-5p	CLIP-seq
MIRT934522	hsa-miR-4722-3p	CLIP-seq
MIRT934589	hsa-miR-4725-3p	CLIP-seq
MIRT934590	hsa-miR-4728-5p	CLIP-seq
MIRT934591	hsa-miR-4731-3p	CLIP-seq
MIRT934523	hsa-miR-4731-5p	CLIP-seq
MIRT934592	hsa-miR-4733-3p	CLIP-seq
MIRT934593	hsa-miR-4759	CLIP-seq
MIRT934594	hsa-miR-4761-3p	CLIP-seq
MIRT934595	hsa-miR-4769-5p	CLIP-seq
MIRT934596	hsa-miR-4793-3p	CLIP-seq
MIRT934597	hsa-miR-4800-3p	CLIP-seq
MIRT934598	hsa-miR-4801	CLIP-seq
MIRT934525	hsa-miR-512-3p	CLIP-seq
MIRT934599	hsa-miR-513a-5p	CLIP-seq
MIRT934527	hsa-miR-520a-3p	CLIP-seq
MIRT934528	hsa-miR-520b	CLIP-seq
MIRT934529	hsa-miR-520c-3p	CLIP-seq
MIRT934530	hsa-miR-520d-3p	CLIP-seq
MIRT934531	hsa-miR-520e	CLIP-seq
MIRT934600	hsa-miR-541	CLIP-seq
MIRT934601	hsa-miR-544b	CLIP-seq
MIRT934532	hsa-miR-548al	CLIP-seq
MIRT934602	hsa-miR-548m	CLIP-seq
MIRT934603	hsa-miR-618	CLIP-seq
MIRT934604	hsa-miR-628-3p	CLIP-seq
MIRT934605	hsa-miR-654-5p	CLIP-seq
MIRT934606	hsa-miR-661	CLIP-seq
MIRT934607	hsa-miR-7	CLIP-seq
MIRT934608	hsa-miR-759	CLIP-seq
MIRT934536	hsa-miR-766	CLIP-seq
MIRT934609	hsa-miR-767-3p	CLIP-seq
MIRT934610	hsa-miR-889	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934541	hsa-miR-1243	CLIP-seq
MIRT934542	hsa-miR-1245b-3p	CLIP-seq
MIRT934499	hsa-miR-145	CLIP-seq
MIRT1976703	hsa-miR-204	CLIP-seq
MIRT1976704	hsa-miR-211	CLIP-seq
MIRT934500	hsa-miR-302a	CLIP-seq
MIRT934501	hsa-miR-302b	CLIP-seq
MIRT934502	hsa-miR-302c	CLIP-seq
MIRT934503	hsa-miR-302d	CLIP-seq
MIRT934504	hsa-miR-302e	CLIP-seq
MIRT934560	hsa-miR-331-5p	CLIP-seq
MIRT934563	hsa-miR-3654	CLIP-seq
MIRT934564	hsa-miR-3669	CLIP-seq
MIRT934508	hsa-miR-372	CLIP-seq
MIRT934509	hsa-miR-373	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934512	hsa-miR-3925-3p	CLIP-seq
MIRT1976705	hsa-miR-3938	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934515	hsa-miR-4480	CLIP-seq
MIRT1976706	hsa-miR-4493	CLIP-seq
MIRT1976707	hsa-miR-4635	CLIP-seq
MIRT934520	hsa-miR-4638-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934522	hsa-miR-4722-3p	CLIP-seq
MIRT934523	hsa-miR-4731-5p	CLIP-seq
MIRT1976708	hsa-miR-4755-5p	CLIP-seq
MIRT1976709	hsa-miR-4758-3p	CLIP-seq
MIRT1976710	hsa-miR-4780	CLIP-seq
MIRT934525	hsa-miR-512-3p	CLIP-seq
MIRT934527	hsa-miR-520a-3p	CLIP-seq
MIRT934528	hsa-miR-520b	CLIP-seq
MIRT934529	hsa-miR-520c-3p	CLIP-seq
MIRT934530	hsa-miR-520d-3p	CLIP-seq
MIRT934531	hsa-miR-520e	CLIP-seq
MIRT1976711	hsa-miR-623	CLIP-seq
MIRT934536	hsa-miR-766	CLIP-seq
MIRT2212016	hsa-miR-2467-5p	CLIP-seq
MIRT2212017	hsa-miR-3188	CLIP-seq
MIRT2212018	hsa-miR-3975	CLIP-seq
MIRT2212019	hsa-miR-4268	CLIP-seq
MIRT2212020	hsa-miR-4444	CLIP-seq
MIRT2212021	hsa-miR-4668-3p	CLIP-seq
MIRT2212022	hsa-miR-485-5p	CLIP-seq
MIRT2212023	hsa-miR-571	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934538	hsa-miR-1178	CLIP-seq
MIRT934539	hsa-miR-1204	CLIP-seq
MIRT2515785	hsa-miR-1224-3p	CLIP-seq
MIRT934540	hsa-miR-1226	CLIP-seq
MIRT934543	hsa-miR-1255a	CLIP-seq
MIRT934544	hsa-miR-1255b	CLIP-seq
MIRT934545	hsa-miR-125a-5p	CLIP-seq
MIRT934546	hsa-miR-125b	CLIP-seq
MIRT934548	hsa-miR-1268	CLIP-seq
MIRT934551	hsa-miR-1976	CLIP-seq
MIRT934552	hsa-miR-199a-5p	CLIP-seq
MIRT934553	hsa-miR-199b-5p	CLIP-seq
MIRT934556	hsa-miR-3130-3p	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT2515786	hsa-miR-3156-3p	CLIP-seq
MIRT934557	hsa-miR-3168	CLIP-seq
MIRT934559	hsa-miR-3178	CLIP-seq
MIRT934562	hsa-miR-3647-3p	CLIP-seq
MIRT934565	hsa-miR-3689a-3p	CLIP-seq
MIRT934566	hsa-miR-3689c	CLIP-seq
MIRT934568	hsa-miR-370	CLIP-seq
MIRT934510	hsa-miR-374c	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934570	hsa-miR-3923	CLIP-seq
MIRT934572	hsa-miR-4265	CLIP-seq
MIRT934575	hsa-miR-4280	CLIP-seq
MIRT934576	hsa-miR-4296	CLIP-seq
MIRT2515787	hsa-miR-4301	CLIP-seq
MIRT934577	hsa-miR-4302	CLIP-seq
MIRT934578	hsa-miR-4319	CLIP-seq
MIRT934579	hsa-miR-4322	CLIP-seq
MIRT934580	hsa-miR-4417	CLIP-seq
MIRT934513	hsa-miR-4434	CLIP-seq
MIRT934581	hsa-miR-4436b-3p	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934518	hsa-miR-4516	CLIP-seq
MIRT934519	hsa-miR-4531	CLIP-seq
MIRT934584	hsa-miR-4648	CLIP-seq
MIRT934585	hsa-miR-4654	CLIP-seq
MIRT934586	hsa-miR-4670-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934588	hsa-miR-4707-5p	CLIP-seq
MIRT934590	hsa-miR-4728-5p	CLIP-seq
MIRT934591	hsa-miR-4731-3p	CLIP-seq
MIRT934592	hsa-miR-4733-3p	CLIP-seq
MIRT934593	hsa-miR-4759	CLIP-seq
MIRT934594	hsa-miR-4761-3p	CLIP-seq
MIRT934595	hsa-miR-4769-5p	CLIP-seq
MIRT934524	hsa-miR-4786-5p	CLIP-seq
MIRT934596	hsa-miR-4793-3p	CLIP-seq
MIRT934598	hsa-miR-4801	CLIP-seq
MIRT934599	hsa-miR-513a-5p	CLIP-seq
MIRT934526	hsa-miR-515-5p	CLIP-seq
MIRT934600	hsa-miR-541	CLIP-seq
MIRT934601	hsa-miR-544b	CLIP-seq
MIRT934602	hsa-miR-548m	CLIP-seq
MIRT934533	hsa-miR-552	CLIP-seq
MIRT934604	hsa-miR-628-3p	CLIP-seq
MIRT934605	hsa-miR-654-5p	CLIP-seq
MIRT934534	hsa-miR-655	CLIP-seq
MIRT934606	hsa-miR-661	CLIP-seq
MIRT934607	hsa-miR-7	CLIP-seq
MIRT934535	hsa-miR-720	CLIP-seq
MIRT934608	hsa-miR-759	CLIP-seq
MIRT934609	hsa-miR-767-3p	CLIP-seq
MIRT934537	hsa-miR-769-5p	CLIP-seq
MIRT934538	hsa-miR-1178	CLIP-seq
MIRT934539	hsa-miR-1204	CLIP-seq
MIRT934540	hsa-miR-1226	CLIP-seq
MIRT934543	hsa-miR-1255a	CLIP-seq
MIRT934544	hsa-miR-1255b	CLIP-seq
MIRT934545	hsa-miR-125a-5p	CLIP-seq
MIRT934546	hsa-miR-125b	CLIP-seq
MIRT934548	hsa-miR-1268	CLIP-seq
MIRT934551	hsa-miR-1976	CLIP-seq
MIRT934552	hsa-miR-199a-5p	CLIP-seq
MIRT934553	hsa-miR-199b-5p	CLIP-seq
MIRT934556	hsa-miR-3130-3p	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT2515786	hsa-miR-3156-3p	CLIP-seq
MIRT934557	hsa-miR-3168	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934559	hsa-miR-3178	CLIP-seq
MIRT934562	hsa-miR-3647-3p	CLIP-seq
MIRT934565	hsa-miR-3689a-3p	CLIP-seq
MIRT934566	hsa-miR-3689c	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934568	hsa-miR-370	CLIP-seq
MIRT934510	hsa-miR-374c	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934572	hsa-miR-4265	CLIP-seq
MIRT934575	hsa-miR-4280	CLIP-seq
MIRT934576	hsa-miR-4296	CLIP-seq
MIRT2515787	hsa-miR-4301	CLIP-seq
MIRT934577	hsa-miR-4302	CLIP-seq
MIRT934578	hsa-miR-4319	CLIP-seq
MIRT934579	hsa-miR-4322	CLIP-seq
MIRT934580	hsa-miR-4417	CLIP-seq
MIRT934513	hsa-miR-4434	CLIP-seq
MIRT934581	hsa-miR-4436b-3p	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934518	hsa-miR-4516	CLIP-seq
MIRT934519	hsa-miR-4531	CLIP-seq
MIRT934584	hsa-miR-4648	CLIP-seq
MIRT934585	hsa-miR-4654	CLIP-seq
MIRT934586	hsa-miR-4670-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934588	hsa-miR-4707-5p	CLIP-seq
MIRT934590	hsa-miR-4728-5p	CLIP-seq
MIRT934591	hsa-miR-4731-3p	CLIP-seq
MIRT934592	hsa-miR-4733-3p	CLIP-seq
MIRT934593	hsa-miR-4759	CLIP-seq
MIRT934594	hsa-miR-4761-3p	CLIP-seq
MIRT934595	hsa-miR-4769-5p	CLIP-seq
MIRT934524	hsa-miR-4786-5p	CLIP-seq
MIRT934596	hsa-miR-4793-3p	CLIP-seq
MIRT934598	hsa-miR-4801	CLIP-seq
MIRT934599	hsa-miR-513a-5p	CLIP-seq
MIRT934526	hsa-miR-515-5p	CLIP-seq
MIRT934600	hsa-miR-541	CLIP-seq
MIRT934601	hsa-miR-544b	CLIP-seq
MIRT934533	hsa-miR-552	CLIP-seq
MIRT934605	hsa-miR-654-5p	CLIP-seq
MIRT934534	hsa-miR-655	CLIP-seq
MIRT934606	hsa-miR-661	CLIP-seq
MIRT934607	hsa-miR-7	CLIP-seq
MIRT934535	hsa-miR-720	CLIP-seq
MIRT934608	hsa-miR-759	CLIP-seq
MIRT934609	hsa-miR-767-3p	CLIP-seq
MIRT934537	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25637936, 32694168
GO:0005640	Component	Nuclear outer membrane	IDA	9878250
GO:0005783	Component	Endoplasmic reticulum	IDA	9878250
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IMP	9465114
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0033489	Process	Cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	IMP	38297129, 38297130
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	TAS
GO:0033963	Function	Cholesterol-5,6-oxide hydrolase activity	IEA
GO:0033963	Function	Cholesterol-5,6-oxide hydrolase activity	IMP	20615952
GO:0047598	Function	7-dehydrocholesterol reductase activity	EXP	9465114
GO:0047598	Function	7-dehydrocholesterol reductase activity	IBA
GO:0047598	Function	7-dehydrocholesterol reductase activity	IDA	9465114
GO:0047598	Function	7-dehydrocholesterol reductase activity	IEA
GO:0047598	Function	7-dehydrocholesterol reductase activity	IMP	38297129, 38297130
GO:0050661	Function	NADP binding	ISS
GO:0160020	Process	Positive regulation of ferroptosis	IMP	38297129, 38297130

Other IDs

• MIM: 602858
• HGNC: 2860
• e!Ensembl: ENSG00000172893

Protein

• UniProt ID: Q9UBM7
• Protein name: 7-dehydrocholesterol reductase (7-DHC reductase) (EC 1.3.1.21) (Cholesterol-5,6-epoxide hydrolase subunit DHCR7) (EC 3.3.2.11) (Delta7-sterol reductase) (Sterol Delta(7)-reductase) (Sterol reductase SR-2)
• Protein function: Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, Pu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01222	ERG4_ERG24	40 → 475	Ergosterol biosynthesis ERG4/ERG24 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Most abundant in adrenal gland, liver, testis, and brain. {ECO:0000269|PubMed:9465114, ECO:0000269|PubMed:9878250}.
• Sequence:

  MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
  CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
  FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
  LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
  GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
  HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
  FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
  ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF

• Sequence length: 475

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways

Reactome:

Activation of gene expression by SREBF (SREBP)
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol

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
2-3 toe syndactyly	Likely pathogenic; Pathogenic	rs11555217, rs779896782	RCV000414879 RCV000415359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs80338853	RCV000454251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs138659167	RCV005886289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs138659167	RCV005886293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886300	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DHCR7-related disorder	Likely pathogenic; Pathogenic	rs781687341, rs80338862, rs143312232, rs142808899, rs121909764, rs80338859, rs80338860, rs61757582, rs121909766, rs104886033, rs886042362, rs138659167, rs11555217, rs80338856, rs80338857, rs80338858, rs774291653, rs746482788, rs766495775, rs398123607	RCV003898362 RCV003418255 RCV003917496 RCV003907631 RCV004748505 RCV004748506 RCV003934805 RCV003407290 RCV003407291 RCV003390651 RCV004748687 RCV003391078 RCV003415725 RCV004748531 RCV004748532 RCV004748533 RCV003897827 RCV003401384 RCV004748898 RCV003935034 RCV003390775	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elevated circulating 7-dehydrocholesterol concentration	Likely pathogenic; Pathogenic	rs11555217, rs779896782	RCV000414879 RCV000415359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs138659167	RCV005886288	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs138659167	RCV005886291	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs138659167	RCV005886290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs80338860	RCV001252750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886296	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Likely pathogenic; Pathogenic	rs11555217, rs779896782	RCV000414879 RCV000415359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Small for gestational age	Likely pathogenic; Pathogenic	rs11555217, rs779896782	RCV000414879 RCV000415359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Lemli-Opitz syndrome	Likely pathogenic; Pathogenic	rs1565588719, rs781687341, rs2135939533, rs2135945513, rs1565584679, rs2135944550, rs536394774, rs2135944619, rs104894212, rs767031102, rs1329227520, rs1457166572, rs2135942891, rs747656720, rs774275482, rs1565586916, rs746591926, rs2135941811, rs139787408, rs766299724, rs2135941775, rs80338862, rs1219026826, rs2135939478, rs2135940147, rs1949268223, rs2120355008, rs761458977, rs143312232, rs1343783336, rs2539221960, rs2539236911, rs2539227728, rs2539236798, rs2539231473, rs2539236641, rs1342235041, rs2539228241, rs779709646, rs104886039, rs750345068, rs2135940013, rs2539221431, rs2539227981, rs1177326550, rs765154144, rs142808899, rs1949389729, rs770174208, rs1949262812, rs2539227294, rs766443353, rs1032242817, rs80338857, rs1316486592, rs2539231409, rs2539210434, rs2539221742, rs2539221237, rs28938174, rs121909764, rs80338853, rs104894213, rs80338859, rs80338860, rs61757582, rs121909765, rs121909766, rs121909767, rs80338864, rs104886033, rs121909768, rs2135939447, rs1294449428, rs2539237303, rs2539216620, rs760428437, rs886041354, rs886042362, rs373306653, rs2539210287, rs764847274, rs2539236149, rs2539216631, rs1372014207, rs2539232054, rs200334114, rs1591109039, rs1267495194, rs2539210698, rs1949357539, rs2539227858, rs565893436, rs2539208842, rs557097410, rs2539237238, rs2539221313, rs750211727, rs777148033, rs1325144749, rs770925697, rs2539236724, rs2539210878, rs2539216665, rs779401555, rs1565586046, rs1949379416, rs2539221631, rs2539217163, rs1949389789, rs749076525, rs1247059842, rs2539239056, rs138659167, rs535561852, rs11555217, rs80338855, rs80338856, rs80338858, rs1057516493, rs774291653, rs1057516618, rs1057516610, rs1057516375, rs1057517070, rs1057516973, rs1057516920, rs1057516783, rs1057517210, rs1057517307, rs746482788, rs756564881, rs1057516977, rs777425801, rs786200926, rs751604696, rs1173707321, rs753960624, rs1331331095, rs775034584, rs1555145619, rs759720450, rs1555145859, rs1555146021, rs1555146061, rs775575609, rs121912195, rs1354718634, rs1046560765, rs1555145614, rs1555145646, rs1555145862, rs1469918162, rs766495775, rs104886041, rs1555145605, rs1555145867, rs769639753, rs774187452, rs777248132, rs1471145742, rs1555145550, rs1555145874, rs1555145877, rs1555146023, rs1555146475, rs1555146618, rs1451108193, rs773134475, rs1565586067, rs1393186135, rs949177, rs1591107040, rs184297154, rs1591107062, rs140791666, rs770819693, rs1591107421, rs1318653026, rs1591109892, rs1591111319, rs747827699, rs371302153, rs757697462, rs1427321619, rs1949389544, rs1301873688, rs1949322246, rs1949357136, rs1949375897, rs1467346010, rs1481450955, rs104886035, rs398123607	RCV001328809 RCV001377821 RCV001376981 RCV001378034 RCV001384493 RCV001390625 RCV001390320 RCV001387625 RCV001808194 RCV001839372 RCV001978000 RCV002018898 RCV001994199 RCV001930481 RCV001996273 RCV002006640 RCV001971809 RCV002007567 RCV001942267 RCV001972753 RCV001972754 RCV001949400 RCV001931861 RCV001972582 RCV002006262 RCV001896349 RCV001890723 RCV003507402 RCV002249025 RCV002289056 RCV000179381 RCV002308585 RCV002306543 RCV002306776 RCV002309936 RCV002308120 RCV002308299 RCV002307120 RCV002310196 RCV002310481 RCV000169472 RCV000169290 RCV000169020 RCV000169596 RCV003062427 RCV003058337 RCV003058338 RCV003071562 RCV002587904 RCV000180217 RCV002676414 RCV002775319 RCV002797174 RCV002866768 RCV002871775 RCV002867733 RCV002894712 RCV003019114 RCV003029615 RCV003033989 RCV000007180 RCV000007181 RCV000007182 RCV000007183 RCV000007184 RCV000007185 RCV000007186 RCV000007187 RCV000007189 RCV000007190 RCV000007191 RCV000007192 RCV000169218 RCV000020435 RCV000169384 RCV000007197 RCV003054609 RCV003066242 RCV003148487 RCV003225697 RCV000536496 RCV000670451 RCV000316051 RCV000408382 RCV003508084 RCV003508112 RCV003508153 RCV003508418 RCV003508253 RCV003508244 RCV003508456 RCV003508828 RCV003508913 RCV003508852 RCV003508853 RCV003506797 RCV003507004 RCV003507120 RCV003507038 RCV003506943 RCV003507798 RCV003618108 RCV003618168 RCV003618208 RCV003618247 RCV003618213 RCV003618289 RCV003618308 RCV003618456 RCV003618388 RCV003618420 RCV003618647 RCV003618525 RCV003618571 RCV003618672 RCV003617491 RCV003617543 RCV003617668 RCV003617751 RCV003619123 RCV003829575 RCV003853217 RCV000383519 RCV004526570 RCV000020434 RCV000020436 RCV000020437 RCV000020438 RCV000020439 RCV000020440 RCV000411064 RCV000409736 RCV000411723 RCV000409015 RCV000411396 RCV000410293 RCV000411265 RCV000409593 RCV000411261 RCV000411331 RCV000409542 RCV000411588 RCV000411258 RCV000411661 RCV000665794 RCV000449623 RCV000023212 RCV000576656 RCV000525900 RCV000578237 RCV000762863 RCV000674641 RCV000674716 RCV000668758 RCV000666554 RCV000674698 RCV000672300 RCV000665754 RCV000664497 RCV000665858 RCV000673491 RCV000669736 RCV000667912 RCV000666844 RCV000669414 RCV000664491 RCV000669792 RCV000675015 RCV000668709 RCV000667423 RCV000672544 RCV000668079 RCV000667799 RCV000674586 RCV000673429 RCV000674614 RCV000668128 RCV000667615 RCV000671381 RCV000667454 RCV000673564 RCV000674923 RCV000674568 RCV000664963 RCV000805883 RCV001027946 RCV001830661 RCV000761593 RCV000779078 RCV000781323 RCV000808556 RCV000815482 RCV000856756 RCV001004373 RCV001004586 RCV001004587 RCV001004588 RCV001004589 RCV001004374 RCV001004375 RCV001004376 RCV001048197 RCV001048198 RCV001059048 RCV001193583 RCV001245989 RCV001235655 RCV001263646 RCV001263930 RCV001263931 RCV001263932 RCV001286268 RCV000178160 RCV000180218 RCV000180570	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs138659167	RCV005886298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Likely pathogenic; Pathogenic	rs138659167	RCV005886294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
2-3 TOE SOFT TISSUE SYNDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC BONE DISORDER	—	Disgenet	★★☆☆☆ 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	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	BEFREE	25111118		★☆☆☆☆ Found in Text Mining only
7-Dehydrocholesterol Reductase Deficiency	7-Dehydrocholesterol Reductase Deficiency	CTD_human_DG	11254748, 12818773, 12906934, 14659996, 15896653, 16446309, 16814115, 17994283, 19365639, 27097157, 29698737		★☆☆☆☆ Found in Text Mining only
7-Dehydrocholesterol Reductase Deficiency	7-Dehydrocholesterol Reductase Deficiency	BEFREE	19390132		★☆☆☆☆ Found in Text Mining only
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24663808		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23636220, 28706201, 30796319	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24663808		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26685159		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	14659996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26686945		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24184224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	30150596	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698, 38526324	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23734184, 29514927, 37891677	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24642724		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23793229		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	31840946		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation, type 2C	Congenital disorder of glycosylation	BEFREE	11562938		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	BEFREE	10439210		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	28202290		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24642724		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24642724		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12797454, 24642724		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	31840946		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmosterolosis	Desmosterolosis	BEFREE	10439210, 10707051, 11592808, 30535733		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26887953		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31088393	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21441443, 32764491, 37170809	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21441443, 22130326		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24663808, 24703048		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10677299, 10807690, 11241839, 11562938, 15286151, 15464432, 16761297, 16906538, 18285838, 21777499, 22438180, 23042628, 23293579, 23918729, 8259166, 9024557		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	26969503		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2	Kyphoscoliotic Ehlers-Danlos Syndrome	BEFREE	25111118		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28703134		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22576297, 23730842, 28415985, 30139224		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	24381012		★☆☆☆☆ Found in Text Mining only
Gallbladder anomaly congenital	Congenital Gallbladder Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26969503		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	28415985	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	11562938, 15013448, 8989473		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia Neonatal	Hyperbilirubinemia	Pubtator	37259065	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30796319		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	39278776	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26416604	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10814720, 11001807, 19365639, 23059950, 26969503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	31088393	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	33011346	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	25460303		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38297130	Associate	★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	BEFREE	25111118		★☆☆☆☆ Found in Text Mining only
Lathosterolosis	Lathosterolosis	BEFREE	12812989, 16636072		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	10814720		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23734184, 28703134		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	24381012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	28415985, 30139224	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36164611, 38211648	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28651595	Associate	★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23793229		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10814720, 11001807, 19365639		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	24381012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	26969503		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31637888	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	11001807		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	14556255	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microglossia	Microglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	26969503		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10677299, 10807690, 11241839, 11562938, 15286151, 15464432, 16761297, 16906538, 18285838, 21777499, 22438180, 23042628, 23293579, 23918729, 8259166, 9024557		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	BEFREE	12812989		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10677299, 10807690, 11241839, 11562938, 15286151, 15464432, 16761297, 16906538, 18285838, 21777499, 22438180, 23042628, 23293579, 23918729, 8259166, 9024557		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22130326		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30623748	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30683615		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CTD_human_DG	24381012		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30150596	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	36750547	Associate	★☆☆☆☆ 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	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26685159		★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	29459491		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21389086		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33836803	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	10069707, 12797454		★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	BEFREE	12797454		★☆☆☆☆ Found in Text Mining only
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	BEFREE	11562938		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28706201, 30796319		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	24073854		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	24073854	Associate	★☆☆☆☆ Found in Text Mining only
Rudimentary postaxial polydactyly of hands	Postaxial Polydactyly Of Hands	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple syndactyly of toes, first web space	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	Pubtator	39278776	Associate	★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	12797454		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	28706201	Associate	★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	10069707, 10439210, 10602371, 10627944, 10677299, 10748414, 10814720, 10995508, 11001806, 11001807, 11078571, 11111101, 11161831, 11175299, 11186897, 11241839, 11298379, 11352988, 11427181, 11453964, 11471166, 11503168, 11562938, 11592808, 11857552, 12116209, 12224080, 12270273, 12914579, 14981719, 15005800, 15464432, 15521979, 15670717, 15776424, 15896653, 15954111, 15979035, 16044199, 16097001, 16181459, 16207203, 16392899, 16497572, 16618793, 16636072, 16687448, 16906538, 17197219, 17441222, 17497248, 17965227, 17994283, 18006960, 18249054, 18285838, 18775956, 18776762, 19365639, 19390132, 20014133, 20052364, 20635399, 21402677, 21874273, 21990131, 22929031, 23042628, 23059950, 23896203, 24259532, 24813812, 25040602, 25111118, 26685159, 26887953, 26969503, 26976653, 26998835, 27513191, 27520299, 27697512, 28220990, 28258022, 28796426, 28972118, 29300326, 29352199, 29433144, 29455191, 29459491, 29698737, 30360379, 7632194, 7762564, 8989473, 9465114, 9634533, 9653161, 9683613, 9714006		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	GENOMICS_ENGLAND_DG	10215064, 10807690, 14556255, 15013448, 3812577, 9634533, 9678700		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	CLINVAR_DG	10405455, 10602371, 10677299, 10710236, 10814720, 10896306, 10995508, 11078571, 11111101, 11161831, 11175299, 11241839, 11427181, 11453964, 11745994, 11767235, 12070263, 12270273, 12818773, 12914579, 12949967, 14981719, 15013448, 15464432, 15521979, 15670717, 15776424, 15805162, 15877207, 15896653, 15952211, 15954111, 15979035, 16044199, 16181459, 16207203, 16392899, 16497572, 16983147, 17237122, 17441222, 17497248, 17965227, 17994283, 18076100, 18249054, 19390132, 20014133, 20052364, 20104611, 20556518, 20635399, 20694756, 21696385, 21706511, 21777499, 21990131, 22211794, 22226660, 22382802, 22391996, 22438180, 22929031, 22975760, 23042628, 23293579, 23918729, 24500076, 24824134, 26969503, 27401223, 27513191, 28166604, 28349652, 28503313, 9634533, 9653161, 9683613		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	UNIPROT_DG	10677299, 10995508, 11175299, 11427181, 12949967, 15954111, 25637936, 9653161, 9683613		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	CLINGEN_DG	10677299, 10905895, 11230174, 11560960, 15776424, 15862627, 18006960, 22226660, 25040602, 9634533, 9653161		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	CTD_human_DG	11254748, 12818773, 12906934, 14659996, 15896653, 16446309, 16814115, 17994283, 19365639, 27097157, 29698737		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	LHGDN	15776424, 15979035, 17441222, 17595012, 18006960, 18249054		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Lemli-Opitz Syndrome, Type I	Smith-Lemli-Opitz Syndrome	CTD_human_DG	11254748, 12818773, 12906934, 14659996, 15896653, 16446309, 16814115, 17994283, 19365639, 27097157, 29698737		★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome, Type II	Smith-Lemli-Opitz Syndrome	CTD_human_DG	11254748, 12818773, 12906934, 14659996, 15896653, 16446309, 16814115, 17994283, 19365639, 27097157, 29698737		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23730842		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	29459491		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36710342	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly type 3	Syndactyly	Pubtator	14556255	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31357732	Associate	★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	7632194		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36164611	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	38211648	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24890271		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	21441443, 23219444, 23837623, 26149120, 28706201, 34675344, 34852423, 35256680, 37259065	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	23837623, 25370324, 26149120, 29153269, 30796319		★☆☆☆☆ Found in Text Mining only