Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55636
Gene name	Chromodomain helicase DNA binding protein 7
Gene symbol	CHD7
Synonyms (NCBI Gene)	CRGHH5IS3KAL5
Chromosome	8
Chromosome location	8q12.2
Summary	This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by Re

369

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SNP ID	Visualize variation	Clinical significance	Consequence
rs16926453	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs34979623	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs41265246	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs41272437	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs61743849	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs61978638	A>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs71640285	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs113483301	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant
rs114996731	T>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs121434338	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121434339	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121434340	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs121434341	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs121434342	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs121434343	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs121434344	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121434345	A>G	Pathogenic	Missense variant, coding sequence variant
rs181927766	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant, synonymous variant, coding sequence variant, downstream transcript variant
rs188188906	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, synonymous variant, coding sequence variant
rs199828744	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, genic downstream transcript variant, coding sequence variant
rs199981784	C>A,T	Pathogenic	Intron variant, genic downstream transcript variant
rs200220845	C>A,T	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs202141372	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs202143667	G>A	Pathogenic	Intron variant
rs267606724	C>G,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs367557471	C>A,T	Likely-pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs367615733	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, genic downstream transcript variant, coding sequence variant
rs369429961	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs370385319	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, genic downstream transcript variant, coding sequence variant
rs371509438	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs371898908	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs372174845	C>A,T	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs373241264	C>G,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs373869399	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, genic downstream transcript variant, coding sequence variant
rs373942842	T>A,C	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs374464240	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375204972	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs375438732	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs376020564	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, intron variant, synonymous variant
rs376056567	C>A,T	Pathogenic	Coding sequence variant, intron variant, stop gained, genic downstream transcript variant, missense variant
rs377723386	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, synonymous variant
rs387906271	G>C	Pathogenic	Intron variant
rs398124317	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs398124319	TA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs398124320	C>G,T	Pathogenic	Coding sequence variant, intron variant, stop gained, synonymous variant, genic downstream transcript variant
rs398124321	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs398124322	G>C	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs528130317	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, intron variant, synonymous variant
rs554737227	T>C,G	Conflicting-interpretations-of-pathogenicity, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs587783428	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783429	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783431	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783432	G>A	Pathogenic	Splice donor variant, intron variant
rs587783433	T>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant
rs587783434	G>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783436	AG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs587783440	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783441	A>G	Likely-pathogenic	Intron variant
rs587783442	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783443	T>-	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783445	T>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs587783446	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs587783447	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs587783448	A>C	Pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs587783450	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs587783451	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs587783454	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs587783455	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs587783456	TCTT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs587783457	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587783458	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587783459	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs727503860	C>T	Pathogenic	Stop gained, coding sequence variant
rs727503861	C>T	Pathogenic	Stop gained, coding sequence variant
rs727503863	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs748126701	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained, intron variant
rs748504264	G>C,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs748842029	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750047137	G>A,T	Likely-benign, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained, intron variant
rs755066542	T>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs757160222	C>A,G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, synonymous variant, stop gained, intron variant
rs762399977	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766542090	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, intron variant, coding sequence variant
rs766862122	C>G,T	Likely-benign, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs767368987	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs768184220	A>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs768313777	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, intron variant, coding sequence variant
rs770166812	C>G,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs771806027	GGG>-,GGGG,GGGGG	Uncertain-significance, pathogenic	Genic downstream transcript variant, frameshift variant, inframe deletion, coding sequence variant
rs773047607	G>A,T	Pathogenic-likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, intron variant, coding sequence variant
rs777652245	C>A,T	Pathogenic	Downstream transcript variant, stop gained, synonymous variant, genic downstream transcript variant, intron variant, coding sequence variant
rs780953224	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs786200873	->A	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs786200969	->C	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs786204200	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794727293	C>T	Pathogenic	Stop gained, coding sequence variant
rs794727295	TCCTCCTCCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727298	C>T	Pathogenic	Stop gained, coding sequence variant
rs794727423	G>A	Uncertain-significance, pathogenic	Genic downstream transcript variant, intron variant
rs794727569	G>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs797044725	->ACCCTCTGTCA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs797044919	->C	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs797045461	->G	Pathogenic	Frameshift variant, coding sequence variant
rs797045463	->TTATCTTC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs797045465	->A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045467	C>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, intron variant, coding sequence variant
rs797045468	->G	Pathogenic	Frameshift variant, coding sequence variant
rs797045469	->G	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs797045470	G>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs797045471	G>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs797045472	->C	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs797045473	->TG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863224517	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224518	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863224843	A>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs863224856	->T	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs864309609	T>C	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs864622455	G>-	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, intron variant, coding sequence variant
rs864622523	A>C	Pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs875989879	C>T	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs878855031	A>T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs878855032	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs878975068	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs879255410	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886039523	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039526	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039527	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039528	GT>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886039636	G>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886039688	C>A,T	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs886039881	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs886040962	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886040978	C>T	Pathogenic	Stop gained, coding sequence variant
rs886040980	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886040981	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886040982	ATCTT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886040983	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886040984	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886040985	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886040986	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886040987	AA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886040988	T>A	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs886040989	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886040990	GAAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886040991	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886040992	CT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886040994	->GT	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886040995	C>T	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs886040996	C>T	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs886040997	->C	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886040998	->A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs886041000	TC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041163	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041166	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041167	A>C,G	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, missense variant
rs886041169	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886041170	G>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886041575	C>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs886041729	A>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs886041808	G>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886041933	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886042024	A>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886042039	G>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886042312	AGATATAGAGA>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs886043750	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886043945	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886063038	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, synonymous variant, coding sequence variant
rs1021645395	T>C,G	Pathogenic	Stop gained, genic downstream transcript variant, intron variant, synonymous variant, coding sequence variant
rs1057517713	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1057517956	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1057517957	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1057518576	GCTACAAGAAACAC>T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1057518891	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1057519423	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057520712	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1057520734	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057521077	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057521078	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057524501	A>C,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs1060499560	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1060499937	G>-	Likely-pathogenic	Intron variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, frameshift variant
rs1060503180	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1060503181	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1060503182	G>C	Pathogenic	Splice acceptor variant, intron variant
rs1060503183	T>C,G	Pathogenic	Intron variant
rs1060503184	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503185	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1060503187	G>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1060503188	C>G,T	Likely-pathogenic, pathogenic	Stop gained, intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1060503189	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1064793083	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs1064793084	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant, intron variant
rs1064793346	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1064793432	GT>-	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1064793463	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1064793664	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064793769	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1064793909	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793962	T>G	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1064793972	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1064793994	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1064793996	GG>TA	Pathogenic	Coding sequence variant, stop gained
rs1064794040	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1064794248	G>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1064795519	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1064796242	T>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1064796255	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1064796615	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs1064796926	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1085307582	G>T	Pathogenic	Splice donor variant, intron variant
rs1085307830	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1131690787	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs1131691420	CCTCTCC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1131691733	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691892	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1131692039	C>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs1131692153	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1131692325	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1320897198	C>G,T	Pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant, stop gained
rs1341064149	G>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1360515765	C>G,T	Pathogenic	Intron variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1436515577	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1554581005	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554581127	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554581198	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554581277	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554581354	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1554581399	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1554581501	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554581646	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554581657	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554581674	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554581757	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554581814	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554588671	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554588675	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554588712	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554588769	A>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554591598	C>G	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554591634	->CTAA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554593023	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554593049	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554597465	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554597507	ATACCAGTTGGAGGGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554597512	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1554597677	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554597716	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554597952	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554598013	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1554598029	G>T	Likely-pathogenic	Intron variant
rs1554599035	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554599036	GAACACTGTGGAAGAAC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554599065	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554599462	->AGAAACTATTA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554600522	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554600530	->TG	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554600538	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554600633	T>G	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554601654	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554602459	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1554602465	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant
rs1554602466	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, splice donor variant, intron variant
rs1554602557	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1554602564	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1554602587	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs1554602588	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1554603151	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1554603276	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1554603293	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs1554603550	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs1554603552	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1554603589	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs1554603672	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs1554603818	->AG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554603963	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554603970	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1554604059	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554604441	->TA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554604772	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554604915	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1554605030	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554605128	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554605972	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1554605973	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1554606033	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs1554606274	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554606367	TA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554606375	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554606910	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554607313	G>-,GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1563559321	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563559596	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563560018	C>T	Pathogenic	Coding sequence variant, stop gained
rs1563560149	C>T	Pathogenic	Coding sequence variant, stop gained
rs1563560493	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563560966	ACTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563595095	AA>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1563595101	AAGA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1563595385	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1563607193	->CC	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1563618176	GGAGAGGAGGT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1563625351	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1563636399	G>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1563643394	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1563644066	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1563645417	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1563648905	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1563649180	C>G	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1563656016	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1563659678	G>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1563659730	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs1563660938	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1563661595	T>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1563662791	AG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1563664199	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1563669432	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant, intron variant
rs1563670964	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563671108	G>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1563674316	ATGAAGA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1563674576	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1586247124	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586248834	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586249038	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586249559	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586249808	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586251038	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586341013	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586341138	->C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586350727	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1586350854	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586350990	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586352770	->G	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586379156	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1586389286	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586389310	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586389368	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1586389929	G>A	Pathogenic	Intron variant, splice acceptor variant
rs1586389979	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586390136	GGAG>-	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1586390236	G>A	Pathogenic	Intron variant
rs1586393514	T>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1586393556	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1586393639	GGGA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586405367	GATGTAG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586417729	T>-	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1586418093	G>A	Pathogenic	Intron variant, splice donor variant
rs1586419356	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1586419497	TG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586420419	G>A	Pathogenic	Intron variant, splice donor variant
rs1586426486	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586426507	G>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1586432203	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant, splice acceptor variant
rs1586440484	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1586440620	GAACA>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586444410	->G	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586444636	->A	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586446101	A>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586446578	T>A	Likely-pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs1586449004	->A	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586451506	A>G	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1586452701	CT>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586452965	A>T	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs1586453267	AA>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586453329	->AA	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586453824	->GG	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586460329	T>G	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs1586462917	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1586463029	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1586468521	CTGTTGGTGCTGCTACT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

330

Show/Hide all (330)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024848	hsa-miR-215-5p	Microarray	19074876
MIRT026704	hsa-miR-192-5p	Microarray	19074876
MIRT027719	hsa-miR-98-5p	Microarray	19088304
MIRT052070	hsa-let-7b-5p	CLASH	23622248
MIRT051570	hsa-let-7e-5p	CLASH	23622248
MIRT039664	hsa-miR-615-3p	CLASH	23622248
MIRT039227	hsa-miR-454-3p	CLASH	23622248
MIRT037022	hsa-miR-877-3p	CLASH	23622248
MIRT225364	hsa-miR-4782-3p	PAR-CLIP	23592263
MIRT225357	hsa-miR-219a-5p	PAR-CLIP	23592263
MIRT225366	hsa-miR-6766-3p	PAR-CLIP	23592263
MIRT485663	hsa-miR-1246	PAR-CLIP	23592263
MIRT225360	hsa-miR-759	PAR-CLIP	23592263
MIRT240389	hsa-miR-5186	PAR-CLIP	23592263
MIRT240388	hsa-miR-4683	PAR-CLIP	23592263
MIRT485662	hsa-miR-1270	PAR-CLIP	23592263
MIRT485661	hsa-miR-620	PAR-CLIP	23592263
MIRT448937	hsa-miR-548u	PAR-CLIP	22100165
MIRT448936	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT448935	hsa-miR-8087	PAR-CLIP	22100165
MIRT448937	hsa-miR-548u	PAR-CLIP	22100165
MIRT448936	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT448935	hsa-miR-8087	PAR-CLIP	22100165
MIRT441545	hsa-miR-1322	PAR-CLIP	22100165
MIRT441544	hsa-miR-3692-5p	PAR-CLIP	22100165
MIRT441543	hsa-miR-4667-5p	PAR-CLIP	22100165
MIRT441542	hsa-miR-4700-5p	PAR-CLIP	22100165
MIRT441541	hsa-miR-8089	PAR-CLIP	22100165
MIRT441539	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441540	hsa-miR-4731-5p	PAR-CLIP	22100165
MIRT441538	hsa-miR-5589-5p	PAR-CLIP	22100165
MIRT441537	hsa-miR-5187-5p	PAR-CLIP	22100165
MIRT441536	hsa-miR-4450	PAR-CLIP	22100165
MIRT441535	hsa-miR-6857-5p	PAR-CLIP	22100165
MIRT172936	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440950	hsa-miR-544a	HITS-CLIP	24374217
MIRT172936	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440950	hsa-miR-544a	HITS-CLIP	24374217
MIRT225364	hsa-miR-4782-3p	PAR-CLIP	23592263
MIRT225357	hsa-miR-219a-5p	PAR-CLIP	23592263
MIRT225366	hsa-miR-6766-3p	PAR-CLIP	23592263
MIRT485663	hsa-miR-1246	PAR-CLIP	23592263
MIRT225360	hsa-miR-759	PAR-CLIP	23592263
MIRT240389	hsa-miR-5186	PAR-CLIP	23592263
MIRT240388	hsa-miR-4683	PAR-CLIP	23592263
MIRT485662	hsa-miR-1270	PAR-CLIP	23592263
MIRT485661	hsa-miR-620	PAR-CLIP	23592263
MIRT448937	hsa-miR-548u	PAR-CLIP	22100165
MIRT448936	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT448935	hsa-miR-8087	PAR-CLIP	22100165
MIRT448937	hsa-miR-548u	PAR-CLIP	22100165
MIRT448936	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT448935	hsa-miR-8087	PAR-CLIP	22100165
MIRT441545	hsa-miR-1322	PAR-CLIP	22100165
MIRT441544	hsa-miR-3692-5p	PAR-CLIP	22100165
MIRT441543	hsa-miR-4667-5p	PAR-CLIP	22100165
MIRT441542	hsa-miR-4700-5p	PAR-CLIP	22100165
MIRT441541	hsa-miR-8089	PAR-CLIP	22100165
MIRT441539	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441540	hsa-miR-4731-5p	PAR-CLIP	22100165
MIRT441538	hsa-miR-5589-5p	PAR-CLIP	22100165
MIRT441537	hsa-miR-5187-5p	PAR-CLIP	22100165
MIRT441536	hsa-miR-4450	PAR-CLIP	22100165
MIRT441535	hsa-miR-6857-5p	PAR-CLIP	22100165
MIRT889297	hsa-let-7a	CLIP-seq
MIRT889298	hsa-let-7b	CLIP-seq
MIRT889299	hsa-let-7c	CLIP-seq
MIRT889300	hsa-let-7d	CLIP-seq
MIRT889301	hsa-let-7e	CLIP-seq
MIRT889302	hsa-let-7f	CLIP-seq
MIRT889303	hsa-let-7g	CLIP-seq
MIRT889304	hsa-let-7i	CLIP-seq
MIRT889305	hsa-miR-1228	CLIP-seq
MIRT889306	hsa-miR-129-5p	CLIP-seq
MIRT889307	hsa-miR-1303	CLIP-seq
MIRT889308	hsa-miR-1305	CLIP-seq
MIRT889309	hsa-miR-139-5p	CLIP-seq
MIRT889310	hsa-miR-154	CLIP-seq
MIRT889311	hsa-miR-155	CLIP-seq
MIRT889312	hsa-miR-181a	CLIP-seq
MIRT889313	hsa-miR-181b	CLIP-seq
MIRT889314	hsa-miR-181c	CLIP-seq
MIRT889315	hsa-miR-181d	CLIP-seq
MIRT889316	hsa-miR-190	CLIP-seq
MIRT889317	hsa-miR-190b	CLIP-seq
MIRT889318	hsa-miR-192	CLIP-seq
MIRT889319	hsa-miR-202	CLIP-seq
MIRT889320	hsa-miR-21	CLIP-seq
MIRT889321	hsa-miR-215	CLIP-seq
MIRT889322	hsa-miR-22	CLIP-seq
MIRT889323	hsa-miR-221	CLIP-seq
MIRT889324	hsa-miR-222	CLIP-seq
MIRT889325	hsa-miR-23a	CLIP-seq
MIRT889326	hsa-miR-23b	CLIP-seq
MIRT889327	hsa-miR-23c	CLIP-seq
MIRT889328	hsa-miR-27a	CLIP-seq
MIRT889329	hsa-miR-27b	CLIP-seq
MIRT889330	hsa-miR-30a	CLIP-seq
MIRT889331	hsa-miR-30b	CLIP-seq
MIRT889332	hsa-miR-30c	CLIP-seq
MIRT889333	hsa-miR-30d	CLIP-seq
MIRT889334	hsa-miR-30e	CLIP-seq
MIRT889335	hsa-miR-3117-3p	CLIP-seq
MIRT889336	hsa-miR-3120-3p	CLIP-seq
MIRT889337	hsa-miR-3121-3p	CLIP-seq
MIRT889338	hsa-miR-3160-3p	CLIP-seq
MIRT889339	hsa-miR-3163	CLIP-seq
MIRT889340	hsa-miR-3169	CLIP-seq
MIRT889341	hsa-miR-329	CLIP-seq
MIRT889342	hsa-miR-331-5p	CLIP-seq
MIRT889343	hsa-miR-340	CLIP-seq
MIRT889344	hsa-miR-3545-3p	CLIP-seq
MIRT889345	hsa-miR-3591-3p	CLIP-seq
MIRT889346	hsa-miR-3607-3p	CLIP-seq
MIRT889347	hsa-miR-362-3p	CLIP-seq
MIRT889348	hsa-miR-3659	CLIP-seq
MIRT889349	hsa-miR-3686	CLIP-seq
MIRT889350	hsa-miR-3922-5p	CLIP-seq
MIRT889351	hsa-miR-3924	CLIP-seq
MIRT889352	hsa-miR-421	CLIP-seq
MIRT889353	hsa-miR-4262	CLIP-seq
MIRT889354	hsa-miR-4272	CLIP-seq
MIRT889355	hsa-miR-4274	CLIP-seq
MIRT889356	hsa-miR-4328	CLIP-seq
MIRT889357	hsa-miR-4446-5p	CLIP-seq
MIRT889358	hsa-miR-4458	CLIP-seq
MIRT889359	hsa-miR-4474-3p	CLIP-seq
MIRT889360	hsa-miR-4475	CLIP-seq
MIRT889361	hsa-miR-4500	CLIP-seq
MIRT889362	hsa-miR-4519	CLIP-seq
MIRT889363	hsa-miR-4658	CLIP-seq
MIRT889364	hsa-miR-4666-5p	CLIP-seq
MIRT889365	hsa-miR-4677-3p	CLIP-seq
MIRT889366	hsa-miR-4678	CLIP-seq
MIRT889367	hsa-miR-4704-5p	CLIP-seq
MIRT889368	hsa-miR-4709-5p	CLIP-seq
MIRT889369	hsa-miR-4715-5p	CLIP-seq
MIRT889370	hsa-miR-4755-5p	CLIP-seq
MIRT889371	hsa-miR-4759	CLIP-seq
MIRT889372	hsa-miR-4773	CLIP-seq
MIRT889373	hsa-miR-4775	CLIP-seq
MIRT889374	hsa-miR-495	CLIP-seq
MIRT889375	hsa-miR-513a-3p	CLIP-seq
MIRT889376	hsa-miR-513a-5p	CLIP-seq
MIRT889377	hsa-miR-514	CLIP-seq
MIRT889378	hsa-miR-514b-3p	CLIP-seq
MIRT889379	hsa-miR-520d-5p	CLIP-seq
MIRT889380	hsa-miR-524-5p	CLIP-seq
MIRT889381	hsa-miR-548a-3p	CLIP-seq
MIRT889382	hsa-miR-548a-5p	CLIP-seq
MIRT889383	hsa-miR-548ab	CLIP-seq
MIRT889384	hsa-miR-548ak	CLIP-seq
MIRT889385	hsa-miR-548b-3p	CLIP-seq
MIRT889386	hsa-miR-548b-5p	CLIP-seq
MIRT889387	hsa-miR-548c-5p	CLIP-seq
MIRT889388	hsa-miR-548d-5p	CLIP-seq
MIRT889389	hsa-miR-548e	CLIP-seq
MIRT889390	hsa-miR-548f	CLIP-seq
MIRT889391	hsa-miR-548h	CLIP-seq
MIRT889392	hsa-miR-548i	CLIP-seq
MIRT889393	hsa-miR-548j	CLIP-seq
MIRT889394	hsa-miR-548k	CLIP-seq
MIRT889395	hsa-miR-548l	CLIP-seq
MIRT889396	hsa-miR-548v	CLIP-seq
MIRT889397	hsa-miR-548w	CLIP-seq
MIRT889398	hsa-miR-548y	CLIP-seq
MIRT889399	hsa-miR-559	CLIP-seq
MIRT889400	hsa-miR-561	CLIP-seq
MIRT889401	hsa-miR-568	CLIP-seq
MIRT889402	hsa-miR-574-5p	CLIP-seq
MIRT889403	hsa-miR-582-3p	CLIP-seq
MIRT889404	hsa-miR-582-5p	CLIP-seq
MIRT889405	hsa-miR-590-3p	CLIP-seq
MIRT889406	hsa-miR-590-5p	CLIP-seq
MIRT889407	hsa-miR-607	CLIP-seq
MIRT889408	hsa-miR-642b	CLIP-seq
MIRT889409	hsa-miR-654-3p	CLIP-seq
MIRT889410	hsa-miR-802	CLIP-seq
MIRT889411	hsa-miR-885-3p	CLIP-seq
MIRT889412	hsa-miR-98	CLIP-seq
MIRT889305	hsa-miR-1228	CLIP-seq
MIRT1963573	hsa-miR-1292	CLIP-seq
MIRT889308	hsa-miR-1305	CLIP-seq
MIRT889309	hsa-miR-139-5p	CLIP-seq
MIRT889341	hsa-miR-329	CLIP-seq
MIRT1963574	hsa-miR-3613-3p	CLIP-seq
MIRT889347	hsa-miR-362-3p	CLIP-seq
MIRT889355	hsa-miR-4274	CLIP-seq
MIRT889356	hsa-miR-4328	CLIP-seq
MIRT1963575	hsa-miR-4422	CLIP-seq
MIRT1963576	hsa-miR-4471	CLIP-seq
MIRT1963577	hsa-miR-4477a	CLIP-seq
MIRT889362	hsa-miR-4519	CLIP-seq
MIRT1963578	hsa-miR-4648	CLIP-seq
MIRT1963579	hsa-miR-4654	CLIP-seq
MIRT889369	hsa-miR-4715-5p	CLIP-seq
MIRT1963580	hsa-miR-4769-5p	CLIP-seq
MIRT889379	hsa-miR-520d-5p	CLIP-seq
MIRT889380	hsa-miR-524-5p	CLIP-seq
MIRT889385	hsa-miR-548b-3p	CLIP-seq
MIRT889401	hsa-miR-568	CLIP-seq
MIRT889402	hsa-miR-574-5p	CLIP-seq
MIRT889404	hsa-miR-582-5p	CLIP-seq
MIRT889407	hsa-miR-607	CLIP-seq
MIRT889408	hsa-miR-642b	CLIP-seq
MIRT889411	hsa-miR-885-3p	CLIP-seq
MIRT889297	hsa-let-7a	CLIP-seq
MIRT889298	hsa-let-7b	CLIP-seq
MIRT889299	hsa-let-7c	CLIP-seq
MIRT889300	hsa-let-7d	CLIP-seq
MIRT889301	hsa-let-7e	CLIP-seq
MIRT889302	hsa-let-7f	CLIP-seq
MIRT889303	hsa-let-7g	CLIP-seq
MIRT889304	hsa-let-7i	CLIP-seq
MIRT889305	hsa-miR-1228	CLIP-seq
MIRT889306	hsa-miR-129-5p	CLIP-seq
MIRT2199963	hsa-miR-137	CLIP-seq
MIRT889309	hsa-miR-139-5p	CLIP-seq
MIRT889311	hsa-miR-155	CLIP-seq
MIRT889312	hsa-miR-181a	CLIP-seq
MIRT889313	hsa-miR-181b	CLIP-seq
MIRT889314	hsa-miR-181c	CLIP-seq
MIRT889315	hsa-miR-181d	CLIP-seq
MIRT889319	hsa-miR-202	CLIP-seq
MIRT889320	hsa-miR-21	CLIP-seq
MIRT2199964	hsa-miR-219-5p	CLIP-seq
MIRT889322	hsa-miR-22	CLIP-seq
MIRT889323	hsa-miR-221	CLIP-seq
MIRT889324	hsa-miR-222	CLIP-seq
MIRT889325	hsa-miR-23a	CLIP-seq
MIRT889326	hsa-miR-23b	CLIP-seq
MIRT889327	hsa-miR-23c	CLIP-seq
MIRT2199965	hsa-miR-302f	CLIP-seq
MIRT889330	hsa-miR-30a	CLIP-seq
MIRT889331	hsa-miR-30b	CLIP-seq
MIRT889332	hsa-miR-30c	CLIP-seq
MIRT889333	hsa-miR-30d	CLIP-seq
MIRT889334	hsa-miR-30e	CLIP-seq
MIRT889338	hsa-miR-3160-3p	CLIP-seq
MIRT889339	hsa-miR-3163	CLIP-seq
MIRT889341	hsa-miR-329	CLIP-seq
MIRT889342	hsa-miR-331-5p	CLIP-seq
MIRT889343	hsa-miR-340	CLIP-seq
MIRT889344	hsa-miR-3545-3p	CLIP-seq
MIRT889346	hsa-miR-3607-3p	CLIP-seq
MIRT889347	hsa-miR-362-3p	CLIP-seq
MIRT889349	hsa-miR-3686	CLIP-seq
MIRT2199966	hsa-miR-377	CLIP-seq
MIRT889350	hsa-miR-3922-5p	CLIP-seq
MIRT2199967	hsa-miR-3945	CLIP-seq
MIRT889352	hsa-miR-421	CLIP-seq
MIRT2199968	hsa-miR-4252	CLIP-seq
MIRT889353	hsa-miR-4262	CLIP-seq
MIRT889354	hsa-miR-4272	CLIP-seq
MIRT1963575	hsa-miR-4422	CLIP-seq
MIRT889358	hsa-miR-4458	CLIP-seq
MIRT889359	hsa-miR-4474-3p	CLIP-seq
MIRT889360	hsa-miR-4475	CLIP-seq
MIRT1963577	hsa-miR-4477a	CLIP-seq
MIRT889361	hsa-miR-4500	CLIP-seq
MIRT889364	hsa-miR-4666-5p	CLIP-seq
MIRT889366	hsa-miR-4678	CLIP-seq
MIRT889367	hsa-miR-4704-5p	CLIP-seq
MIRT889368	hsa-miR-4709-5p	CLIP-seq
MIRT889369	hsa-miR-4715-5p	CLIP-seq
MIRT2199969	hsa-miR-4764-5p	CLIP-seq
MIRT889372	hsa-miR-4773	CLIP-seq
MIRT889373	hsa-miR-4775	CLIP-seq
MIRT2199970	hsa-miR-4795-3p	CLIP-seq
MIRT889374	hsa-miR-495	CLIP-seq
MIRT2199971	hsa-miR-501-3p	CLIP-seq
MIRT2199972	hsa-miR-502-3p	CLIP-seq
MIRT889375	hsa-miR-513a-3p	CLIP-seq
MIRT889376	hsa-miR-513a-5p	CLIP-seq
MIRT889379	hsa-miR-520d-5p	CLIP-seq
MIRT889380	hsa-miR-524-5p	CLIP-seq
MIRT889381	hsa-miR-548a-3p	CLIP-seq
MIRT889382	hsa-miR-548a-5p	CLIP-seq
MIRT889383	hsa-miR-548ab	CLIP-seq
MIRT889384	hsa-miR-548ak	CLIP-seq
MIRT889386	hsa-miR-548b-5p	CLIP-seq
MIRT889387	hsa-miR-548c-5p	CLIP-seq
MIRT889388	hsa-miR-548d-5p	CLIP-seq
MIRT889389	hsa-miR-548e	CLIP-seq
MIRT889390	hsa-miR-548f	CLIP-seq
MIRT889391	hsa-miR-548h	CLIP-seq
MIRT889392	hsa-miR-548i	CLIP-seq
MIRT889393	hsa-miR-548j	CLIP-seq
MIRT889394	hsa-miR-548k	CLIP-seq
MIRT889395	hsa-miR-548l	CLIP-seq
MIRT889396	hsa-miR-548v	CLIP-seq
MIRT889397	hsa-miR-548w	CLIP-seq
MIRT889398	hsa-miR-548y	CLIP-seq
MIRT889399	hsa-miR-559	CLIP-seq
MIRT889400	hsa-miR-561	CLIP-seq
MIRT889401	hsa-miR-568	CLIP-seq
MIRT889402	hsa-miR-574-5p	CLIP-seq
MIRT889403	hsa-miR-582-3p	CLIP-seq
MIRT889404	hsa-miR-582-5p	CLIP-seq
MIRT889405	hsa-miR-590-3p	CLIP-seq
MIRT889406	hsa-miR-590-5p	CLIP-seq
MIRT2199973	hsa-miR-600	CLIP-seq
MIRT889408	hsa-miR-642b	CLIP-seq
MIRT889409	hsa-miR-654-3p	CLIP-seq
MIRT889410	hsa-miR-802	CLIP-seq
MIRT889411	hsa-miR-885-3p	CLIP-seq
MIRT2199974	hsa-miR-935	CLIP-seq
MIRT889412	hsa-miR-98	CLIP-seq
MIRT889330	hsa-miR-30a	CLIP-seq
MIRT889331	hsa-miR-30b	CLIP-seq
MIRT889332	hsa-miR-30c	CLIP-seq
MIRT889333	hsa-miR-30d	CLIP-seq
MIRT889334	hsa-miR-30e	CLIP-seq
MIRT889359	hsa-miR-4474-3p	CLIP-seq
MIRT889374	hsa-miR-495	CLIP-seq
MIRT889382	hsa-miR-548a-5p	CLIP-seq
MIRT889383	hsa-miR-548ab	CLIP-seq
MIRT889384	hsa-miR-548ak	CLIP-seq
MIRT889386	hsa-miR-548b-5p	CLIP-seq
MIRT889387	hsa-miR-548c-5p	CLIP-seq
MIRT889388	hsa-miR-548d-5p	CLIP-seq
MIRT889391	hsa-miR-548h	CLIP-seq
MIRT889392	hsa-miR-548i	CLIP-seq
MIRT889393	hsa-miR-548j	CLIP-seq
MIRT889394	hsa-miR-548k	CLIP-seq
MIRT889395	hsa-miR-548l	CLIP-seq
MIRT889397	hsa-miR-548w	CLIP-seq
MIRT889398	hsa-miR-548y	CLIP-seq
MIRT889399	hsa-miR-559	CLIP-seq
MIRT889410	hsa-miR-802	CLIP-seq

Show/Hide all (98)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001501	Process	Skeletal system development	IMP	16155193
GO:0001568	Process	Blood vessel development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	IMP	15300250
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IMP	15300250
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003226	Process	Right ventricular compact myocardium morphogenesis	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	TAS	17299439
GO:0005515	Function	Protein binding	IPI	20130577, 20453063, 23285124
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20453063
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	17299439
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	17937444
GO:0006364	Process	RRNA processing	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IMP	9556299
GO:0007512	Process	Adult heart development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0021545	Process	Cranial nerve development	IBA
GO:0021545	Process	Cranial nerve development	IEA
GO:0021545	Process	Cranial nerve development	IMP	9556299
GO:0021553	Process	Olfactory nerve development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0030217	Process	T cell differentiation	IMP	17684005
GO:0030540	Process	Female genitalia development	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035904	Process	Aorta development	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0036302	Process	Atrioventricular canal development	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042048	Process	Olfactory behavior	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042471	Process	Ear morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IMP	15300250
GO:0043009	Process	Chordate embryonic development	IBA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043584	Process	Nose development	IEA
GO:0043584	Process	Nose development	IEA
GO:0043584	Process	Nose development	IMP	15300250
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048752	Process	Semicircular canal morphogenesis	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0048806	Process	Genitalia development	IEA
GO:0048806	Process	Genitalia development	IMP	15300250
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050890	Process	Cognition	IMP	16155193
GO:0051049	Process	Regulation of transport	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060041	Process	Retina development in camera-type eye	IMP	15300250
GO:0060123	Process	Regulation of growth hormone secretion	IMP	9556299
GO:0060173	Process	Limb development	IEA
GO:0060173	Process	Limb development	IMP	17937444
GO:0060322	Process	Head development	IEA
GO:0060324	Process	Face development	IMP	15300250
GO:0060384	Process	Innervation	IEA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0062009	Process	Secondary palate development	IMP	15300250
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
608892	20626	ENSG00000171316

Q9P2D1

Protein name

Chromodomain-helicase-DNA-binding protein 7 (CHD-7) (EC 3.6.4.-) (ATP-dependent helicase CHD7)

Protein function

ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Probable transcription regulator. May be involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239,

PDB

2CKC , 2V0E , 2V0F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00385	Chromo	800 → 862	Chromo (CHRromatin Organisation MOdifier) domain	Domain
PF00385	Chromo	882 → 935	Chromo (CHRromatin Organisation MOdifier) domain	Domain
PF00176	SNF2_N	932 → 1258	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	1290 → 1404	Helicase conserved C-terminal domain	Family
PF07533	BRK	2563 → 2606	BRK domain	Domain
PF07533	BRK	2641 → 2684	BRK domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15300250, ECO:0000269|PubMed:22646239}.

Sequence

MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTN
QNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQYHTPPVPQVPHGGSGG
GQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQ
GHPQHMQQMGSYMARGDFSMQQHGQPQQRMSQFSQGQEGLNQGNPFIATSGPGHLSHVPQ
QSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVP
SPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQG
LMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGI
PMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGC
PGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQL
HPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKK
KKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPK
EKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTE
GSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGR
DSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQW
ASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEP
VTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSR
EYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFL
VIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAI
ITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNT
VEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAP
KEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLING
AEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLD
ILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADT
CIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQ
SMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITI
ESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRK
QTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGR
WTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALV
NHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLL
RVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFK
HGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPT
RTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAY
QRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVST
FGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLS
SIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDL
LVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSA
HIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKG
VEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTAR
DETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMF
DFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQR
RRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSS
LSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVE
GLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRL
VGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINT
LTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMF
DRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQN
LQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPL
SAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAP
AGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAAD
KAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE

Sequence length

2997

Interactions

View interactions

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)

Show/Hide Causal Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs367557471	RCV000626944	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect	Likely pathogenic	rs367557471	RCV000626944	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE syndrome	Likely pathogenic; Pathogenic	rs1804990594, rs200220845, rs398124319, rs398124321, rs1064794250, rs1809050272, rs1811207509, rs2150739129, rs2150761158, rs2150669574, rs2150669783, rs2150669843, rs2150669923, rs2150669944, rs1586341138 View all (468 more)	RCV001321147 RCV000763186 RCV001040538 RCV000176678 RCV001329010 View all (487 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHD7 disorder	Pathogenic	rs2150777148	RCV001797039	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHD7-related CHARGE syndrome	Likely pathogenic; Pathogenic	rs794727423, rs886040996	RCV006257283 RCV006261963	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHD7-related disorder	Pathogenic; Likely pathogenic	rs200220845, rs398124321, rs1064794250, rs2150761158, rs2150669843, rs2150809777, rs587783454, rs587783457, rs727503860, rs2487811001, rs794727293, rs121434341, rs886040978, rs886040982, rs886040991 View all (18 more)	RCV004748564 RCV003407463 RCV004749657 RCV003399192 RCV003898363 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Choanal atresia	Likely pathogenic	rs367557471	RCV000626944	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chorioretinal coloboma	Pathogenic	rs1554581757	RCV000626943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromatinopathy	Pathogenic	rs1804098617	RCV001261222	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart disease (variable)	Likely pathogenic	rs1811220142	RCV001194046	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic fibrosis	Pathogenic	rs587783450	RCV005862996	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs1554581757	RCV000626943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs1554598029	RCV005899796	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 5 with or without anosmia	Pathogenic; Likely pathogenic	rs200220845, rs398124321, rs1809000474, rs1064794250, rs1809050272, rs2129765592, rs587783429, rs587783450, rs587783457, rs121434338, rs387906271, rs2488142239, rs794727423, rs886039881, rs886040962 View all (14 more)	RCV000763186 RCV001004923 RCV001329009 RCV005866950 RCV001334948 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA	Pathogenic	rs121434344	RCV000030798	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iris coloboma	Pathogenic	rs2488036663	RCV002291343	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Pathogenic	rs121434341	RCV005625462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1064794250	RCV001375030	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary artery atresia	Pathogenic	rs1554581757	RCV000626943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyloric stenosis	Likely pathogenic	rs367557471	RCV000626944	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal coloboma	Pathogenic	rs1554581757	RCV000626943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis, isolated, susceptibility to, 3	Pathogenic	rs1805143456	RCV001334947	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1085307582	RCV005899713	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wiedemann-Steiner syndrome	Pathogenic	rs1586437186	RCV001261224	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (69)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3MC syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY disorder of sex development	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amenorrhea	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA)	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF THE RETINA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY ARTERY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ULNAR RENAL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrioventricular septal defect	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHARGE SYNDROMES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism with anosmia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic hearing loss	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature ovarian failure	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pure gonadal dysgenesis 46,XY	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWYER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER association	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIEDEMANN STEINER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (348)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abruzzo Erickson syndrome	Cleft palate with coloboma of eye and deafness	BEFREE	18472328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Absence of septum pellucidum	Absence Of Septum Pellucidum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	12567418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29212025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	34833359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	30183354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	26813943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24626090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	25996639	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	29088513		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	23849776, 33948885, 37052590	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23285124, 23849776, 30108144, 31146125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	16155193, 26590800, 33948885, 34368859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26590800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	16169932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	32573075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachial Plexus Neuritis	Brachial plexus neuritis	Pubtator	26813943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28649742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36059516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	36958196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30043858, 37885090, 39251909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28676412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28750699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	21146804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	25077900, 29144511, 30733481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	1981467, 28165338, 28317875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28750699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	28152519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	15300250, 15637730, 16118347, 16155193, 16169932, 16207732, 16400610, 16615981, 16932062, 16959034, 16960397, 17149726, 17253929, 17299439, 17334995 View all (129 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE Syndrome	CHARGE Syndrome	CLINGEN_DG	15300250, 17149726, 17334657, 20130577, 20186815, 26538304, 26551301		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE Syndrome	CHARGE Syndrome	UNIPROT_DG	15300250, 16400610, 16763960, 18074359, 18445044, 19021638, 20453063, 21158681, 21554267, 21931733, 22461308, 22462537, 25818041		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE Syndrome	CHARGE Syndrome	CLINVAR_DG	15300250, 16155193, 16400610, 16763960, 17661815, 18073582, 19021638, 20624498, 20884005, 21158681, 21554267, 21931733, 22033296, 22461308, 23024289 View all (8 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE Syndrome	Charge syndrome	Pubtator	15710038, 16118347, 16155193, 16169932, 16960397, 17436250, 18073582, 18505430, 18834967, 19021638, 19112063, 19403480, 21146804, 21158681, 21623345 View all (60 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE Syndrome	CHARGE Syndrome	GENOMICS_ENGLAND_DG	16155193, 16400610, 18074359, 20052490, 25119037		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE Syndrome	CHARGE Syndrome	CTD_human_DG	16615981, 21532573		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE syndrome	CHARGE Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29212025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal atresia syndrome	Pubtator	33184947	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choanal Atresia	Choanal Atresia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic otitis media	Otitis media	BEFREE	22539951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	30359267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	35385219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30384553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	17436250, 19403480, 22033296, 23215558, 30733481, 33184947, 34202106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	12124339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24211491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	31067328, 37231428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26813943, 33948885, 35466136, 36587182, 36849876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of thymus	Aplasia of the thymus	BEFREE	20052490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anosmia	Congenital anosmia	Pubtator	29255181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	31060112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1785643, 9147897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	BEFREE	9660062		★★★★★ ★☆☆☆☆ 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 Heart Defects	Congenital heart defects	BEFREE	14586282, 16615981, 23677905, 25257999, 29088513, 29660852, 31833191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	22724017, 25077900, 30733481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	2051459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	21094707, 23024289, 26538304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	BEFREE	26813943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	26436962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	11940088, 14586282, 16932062, 17436250, 18386809, 19279158, 19598179, 1981467, 20186815, 2051459, 21338411, 22302456, 23215558, 23677905, 25077900 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	LHGDN	16400610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	25119037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	23677905, 25257999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	1785643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	29440260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	1984262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	10995509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	27561106, 31060112, 35078197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19021638, 26813943, 29979396, 32247258, 35078197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	29280744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	20591827, 23134727, 24728844, 29082625, 30629778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	23134727, 31315586, 33948885, 36849876	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	1785643, 20052490, 20686492, 21338411, 2835434, 31033123, 8634784, 9429139		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	30244528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	26980296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	22258531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	22902603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	29945602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	32267359, 37231428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10590394, 14626219, 15300250, 15666308, 16155193, 16400610, 17299439, 17661815, 18834967, 20130577, 20186815, 21378379, 21532573, 22461308, 22495309 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	26813943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	17436250, 19021638, 29979396, 30733481, 32247258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36958196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	17489843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	20186815, 21338411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	1981467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial CHARGE Syndrome	CHARGE Syndrome	CTD_human_DG	16615981, 21532573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial CHARGE Syndrome	CHARGE Syndrome	BEFREE	18074359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	BEFREE	1984262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	31689711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
gaze palsy familial horizontal with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis	Pubtator	23883829, 31924193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30629778, 30850678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30629778, 30850678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30629778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	1984262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	26741373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17436250, 30733481, 36502621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	23533228, 29293505, 32681043, 34348883, 36833263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29986705, 36396635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	17436250, 23215558, 29536580, 30733481, 32341405, 33184947, 35078197, 37052590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	19065520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	16169932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28152519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	39542781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	12567418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	10995509, 26741373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	LHGDN	18834967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	22724017, 23341491, 26199944, 26590800, 28209183, 29144511, 30098700, 30733481, 31220265, 32573075, 32724172, 32982993, 33270637, 33719213, 34348883 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10995509, 12567418, 19809474, 20543690, 26590800, 29432577		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CLINVAR_DG	15300250, 16155193, 21931733, 22033296, 26538304		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	18074359, 25119037		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	18834967, 21158681, 25077900		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoparathyroidism	Hypoparathyroidism	BEFREE	20052490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	23526466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypopituitarism	Hypopituitarism	Pubtator	37231428	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	28209183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	28209183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	18089695		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	37231428	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	18074359		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	18834967, 21856375, 29152903, 31689711		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	18834967, 19021638, 22035731, 33208564, 33775534, 34563184	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	GENOMICS_ENGLAND_DG	20052490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	27561106, 32573075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32573075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21338411, 26813943, 30277262, 31146125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	21931733, 23215558, 24253858, 26813943, 35837997, 37231428	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interrupted aortic arch	Interrupted aortic arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	14608645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kabuki syndrome	Kabuki syndrome	Pubtator	28475860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	16960397, 17191030, 18834967, 19021638, 20543690, 21041284, 21682876, 21856375, 22399515, 24728844, 25077900, 25472840, 26680571, 28609304, 29152903, 29432577 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	16960397, 18834967, 19021638, 21682876, 22035731, 22399515, 23533228, 29255181, 29979396, 31628846, 32573075, 34563184, 37108593, 39596130	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	LHGDN	18834967, 19021638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	18834967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann syndrome, type 3, recessive	Kallmann Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	16960397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	30359267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal hypoplasia	Laryngeal hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32341405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36544784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30317490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36211008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23747993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29728651		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	28649742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24626090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28649742, 29907771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12124339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	1984262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29212025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21338411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	26436962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	10995509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	16169932, 17436250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	30181649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	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
Migraine Disorders	Migraine	Pubtator	21146804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10590394, 14626219, 15300250, 15666308, 16155193, 16400610, 17299439, 17661815, 18834967, 20130577, 20186815, 21378379, 21532573, 22461308, 22495309 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10590394, 14626219, 15300250, 15666308, 16155193, 16400610, 17299439, 17661815, 18834967, 20130577, 20186815, 21378379, 21532573, 22461308, 22495309 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38018590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	23526466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	26436962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	26436962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26436962, 26813943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24211491, 30850678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23285124		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	30359267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	18505430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn syndrome	Omenn Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 9	Orofaciodigital syndrome	Pubtator	23533228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24626090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid hypoplasia	Parathyroid hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	28209183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	10995509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37215133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	30359267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prune Belly Syndrome	Prune belly syndrome	BEFREE	16152641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radial aplasia	Radial Aplasia	BEFREE	19375527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	24026680, 29467333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24026680, 29467333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	17436250, 31924193	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	LHGDN	17436250		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29986705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	23526466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	18505430, 27875026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	18505430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	18505430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21931733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	20052490, 20686492, 21338411, 2835434, 31033123, 9429139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37697421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	30772522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	30772522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	31797071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Agenesis	Thyroid Agenesis	BEFREE	2051459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36333684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37745716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29088513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35979353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	26436962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	1984262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37542643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	17436250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37511120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	24416387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	28152519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Outflow Obstruction	Ventricular outflow obstruction	Pubtator	36478645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	2051459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26813943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	14586282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	27562378		★★★★★ ★☆☆☆☆ Found in Text Mining only

CHD7 (chromodomain helicase DNA binding protein 7)