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

3871

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs367557471	RCV000626944
Atrial septal defect	Likely pathogenic	rs367557471	RCV000626944
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 RCV002279736 RCV001334945 RCV001376003 RCV001375987 RCV001384336 RCV001385014 RCV001381842 RCV001380303 RCV001387524 RCV001380503 RCV001385683 RCV001385684 RCV001385686 RCV001385687 RCV001381943 RCV001382757 RCV001391012 RCV001389096 RCV001380896 RCV001380224 RCV001381748 RCV001381986 RCV001382918 RCV001526459 RCV004771502 RCV001823296 RCV001823293 RCV001823295 RCV002573180 RCV001733829 RCV001733837 RCV001775409 RCV001777192 RCV005095144 RCV001794856 RCV001795815 RCV001806410 RCV001808259 RCV001809217 RCV001829277 RCV001958054 RCV001994602 RCV001939389 RCV001960603 RCV001938554 RCV001950782 RCV001946689 RCV001956028 RCV001937212 RCV001977607 RCV001925267 RCV001949272 RCV001980032 RCV001910543 RCV001989921 RCV002035296 RCV002007209 RCV002000031 RCV002024583 RCV002007500 RCV002007505 RCV002007561 RCV001942080 RCV001941998 RCV001929303 RCV001946799 RCV002036334 RCV001956139 RCV001947076 RCV001982883 RCV001981476 RCV001956507 RCV001956554 RCV001958734 RCV002051459 RCV002052259 RCV002221928 RCV002227736 RCV002249352 RCV002249353 RCV002249354 RCV002250933 RCV000145655 RCV000145652 RCV000145653 RCV000145658 RCV000145659 RCV000145660 RCV000145662 RCV000145669 RCV000145670 RCV000145671 RCV000145673 RCV000145676 RCV000145677 RCV000145678 RCV000145679 RCV000145682 RCV000145684 RCV000145689 RCV000145690 RCV000145692 RCV000145696 RCV000145697 RCV000145698 RCV002269135 RCV002269136 RCV002269137 RCV002269145 RCV002272642 RCV002272740 RCV002274455 RCV002279878 RCV002280215 RCV002283658 RCV000002100 RCV000002101 RCV000002102 RCV002287604 RCV000002105 RCV000002106 RCV000002107 RCV000002110 RCV000002111 RCV000002113 RCV000002117 RCV000002118 RCV002289419 RCV002290130 RCV002514946 RCV002516073 RCV002573592 RCV000168287 RCV002468821 RCV003062165 RCV003037295 RCV003062166 RCV003079087 RCV000175883 RCV000470769 RCV002512432 RCV000177749 RCV002512486 RCV002750798 RCV002810538 RCV002851059 RCV002856647 RCV002838451 RCV000193887 RCV000194479 RCV000193650 RCV000192729 RCV000192854 RCV000195102 RCV000193810 RCV000195205 RCV000193258 RCV000194957 RCV002871809 RCV002862633 RCV002898883 RCV002899218 RCV002885298 RCV002942341 RCV000199561 RCV000196644 RCV000199327 RCV000198147 RCV003013260 RCV000258103 RCV003026443 RCV003037691 RCV003045720 RCV003039087 RCV003032844 RCV003039179 RCV003054183 RCV003044985 RCV000205203 RCV000206229 RCV000211558 RCV000224986 RCV000232661 RCV000234220 RCV003148199 RCV003148406 RCV003150844 RCV003152857 RCV003152920 RCV003152969 RCV003153021 RCV003158016 RCV000258139 RCV003221329 RCV003225642 RCV003225674 RCV003225717 RCV003226107 RCV001234008 RCV000258077 RCV000258132 RCV000258090 RCV000258116 RCV000258148 RCV000258098 RCV000258145 RCV000258125 RCV000258078 RCV000258101 RCV000258122 RCV000258074 RCV000258081 RCV000258110 RCV000258087 RCV000258138 RCV000258088 RCV000258113 RCV000258097 RCV000258114 RCV000258123 RCV000258093 RCV001341361 RCV001222555 RCV001808724 RCV000509342 RCV003233017 RCV003233356 RCV003234865 RCV003236239 RCV003236641 RCV003324720 RCV003326303 RCV003327329 RCV003333364 RCV003333445 RCV003333536 RCV003333635 RCV003333667 RCV003335814 RCV003335848 RCV003335874 RCV003388816 RCV003405209 RCV003447717 RCV003447742 RCV003447810 RCV003498013 RCV003485010 RCV003486496 RCV003498170 RCV003498263 RCV003498886 RCV003498992 RCV003499134 RCV003499020 RCV003499909 RCV003499947 RCV003499949 RCV003497750 RCV003498440 RCV003498439 RCV003498524 RCV003498558 RCV003498753 RCV003499369 RCV003499292 RCV003498731 RCV003499286 RCV003603228 RCV003604174 RCV003604157 RCV003604056 RCV003604282 RCV003604724 RCV003604761 RCV003604917 RCV003604803 RCV003602550 RCV003602551 RCV003605064 RCV003605081 RCV003603629 RCV003842924 RCV003873609 RCV003886330 RCV003985957 RCV003985974 RCV003991992 RCV004017213 RCV004555177 RCV004560463 RCV004585137 RCV004594747 RCV004594750 RCV004594751 RCV004594796 RCV004594806 RCV004594917 RCV004594918 RCV005090666 RCV000414784 RCV000417049 RCV001045040 RCV001390950 RCV000456117 RCV000474707 RCV000467254 RCV000464132 RCV000460607 RCV000457698 RCV000462550 RCV000468880 RCV000457833 RCV000475738 RCV000469838 RCV000464453 RCV005090930 RCV001253666 RCV000853243 RCV000492724 RCV000492168 RCV000693442 RCV000495904 RCV000496025 RCV000626339 RCV000664334 RCV001857952 RCV000555288 RCV000542683 RCV000530377 RCV000532812 RCV000558253 RCV000537112 RCV000554486 RCV000543551 RCV000551048 RCV000553452 RCV000548285 RCV000578198 RCV000578185 RCV000578196 RCV000578177 RCV000578162 RCV000578186 RCV000578151 RCV000578158 RCV000578175 RCV000578165 RCV000578169 RCV000578161 RCV000578246 RCV000578387 RCV003403368 RCV000818234 RCV000988070 RCV003152718 RCV001382047 RCV001270169 RCV000627047 RCV000802920 RCV000634428 RCV000634417 RCV000634422 RCV000634421 RCV000634433 RCV000659294 RCV000659295 RCV000659297 RCV000659299 RCV000659300 RCV000659301 RCV000659302 RCV000659303 RCV000659304 RCV000663356 RCV000677125 RCV000679949 RCV000704736 RCV000693970 RCV000701495 RCV000696170 RCV000696619 RCV000695614 RCV000699166 RCV000703134 RCV000697516 RCV000705304 RCV000687270 RCV000723279 RCV001809789 RCV000736079 RCV001563584 RCV000758255 RCV000824809 RCV000760270 RCV001329006 RCV000824845 RCV001729698 RCV000767865 RCV000770777 RCV000770778 RCV000790613 RCV000798958 RCV000818946 RCV000809467 RCV000814478 RCV000817765 RCV000811014 RCV000807186 RCV000811622 RCV000803257 RCV000810441 RCV000799114 RCV000815860 RCV000816660 RCV000796397 RCV000807220 RCV000811595 RCV000793194 RCV000807400 RCV000824233 RCV000813238 RCV000850364 RCV000850359 RCV000850395 RCV000850390 RCV000851195 RCV000853378 RCV000853388 RCV000853267 RCV000856670 RCV000856796 RCV000856767 RCV000988064 RCV000988065 RCV000988067 RCV000988068 RCV000991293 RCV001007909 RCV001043687 RCV001044320 RCV001037820 RCV001059808 RCV001040680 RCV001057662 RCV001040349 RCV001058218 RCV001041025 RCV001068912 RCV001060107 RCV001379714 RCV001195545 RCV001197619 RCV001214202 RCV001219906 RCV001223181 RCV001222705 RCV001203917 RCV001201814 RCV001211110 RCV001210647 RCV001207426 RCV001203728 RCV001213234 RCV001206597 RCV001215999 RCV001214662 RCV001227252 RCV001247158 RCV001245783 RCV001243965 RCV001227244 RCV001227917 RCV001225497 RCV001247034 RCV001249610 RCV001267753 RCV001253219 RCV001263213 RCV001261226 RCV001261223 RCV001261227 RCV001262407 RCV001268944 RCV001281079 RCV001293652 RCV001293772
CHD7 disorder	Pathogenic	rs2150777148	RCV001797039
CHD7-related CHARGE syndrome	Likely pathogenic; Pathogenic	rs794727423, rs886040996	RCV006257283 RCV006261963
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 RCV005250191 RCV004532651 RCV003407563 RCV003398801 RCV003403836 RCV004748629 RCV003417801 RCV003409390 RCV004748683 RCV003391021 RCV003402485 RCV003404287 RCV003402231 RCV003408618 RCV003400427 RCV003400448 RCV003394373 RCV003403033 RCV003397748 RCV003926816 RCV003932236 RCV003976563 RCV004555094 RCV003902723 RCV003409746 RCV003905349 RCV004748818 RCV004528445
Choanal atresia	Likely pathogenic	rs367557471	RCV000626944
Chorioretinal coloboma	Pathogenic	rs1554581757	RCV000626943
Chromatinopathy	Pathogenic	rs1804098617	RCV001261222
Congenital heart disease (variable)	Likely pathogenic	rs1811220142	RCV001194046
Cystic fibrosis	Pathogenic	rs587783450	RCV005862996
Hearing impairment	Pathogenic	rs1554581757	RCV000626943
Hepatocellular carcinoma	Likely pathogenic	rs1554598029	RCV005899796
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 RCV002221928 RCV004796042 RCV000763601 RCV004700463 RCV000763598 RCV000002114 RCV002291130 RCV000850540 RCV000256374 RCV000258127 RCV000763599 RCV005049507 RCV004560457 RCV004566530 RCV004566654 RCV004586351 RCV000494710 RCV001329008 RCV000760270 RCV003396489 RCV001009618 RCV005047266 RCV001249610 RCV001813821
HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA	Pathogenic	rs121434344	RCV000030798
Iris coloboma	Pathogenic	rs2488036663	RCV002291343
Joubert syndrome	Pathogenic	rs121434341	RCV005625462
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1064794250	RCV001375030
Pulmonary artery atresia	Pathogenic	rs1554581757	RCV000626943
Pyloric stenosis	Likely pathogenic	rs367557471	RCV000626944
Retinal coloboma	Pathogenic	rs1554581757	RCV000626943
Scoliosis, isolated, susceptibility to, 3	Pathogenic	rs1805143456	RCV001334947
See cases	Likely pathogenic; Pathogenic	rs121434338, rs2487275013, rs2487904295	RCV004584305 RCV003156186 RCV003985701
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1085307582	RCV005899713
Wiedemann-Steiner syndrome	Pathogenic	rs1586437186	RCV001261224

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Conflicting classifications of pathogenicity	rs748511141	RCV006272154
3MC syndrome	Conflicting classifications of pathogenicity	rs1805405695	RCV001261225
46,XY disorder of sex development	Uncertain significance	rs1050246257	RCV003126300
Acute myeloid leukemia	Benign	rs200026248	RCV005916728
Amenorrhea	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs779776551, rs373986410, rs192129249, rs200441929, rs753953205, rs756365280	RCV001849752 RCV001849754 RCV001849320 RCV001849422 RCV001849429 RCV001849432
Autism spectrum disorder	Likely benign	rs1039938505	RCV003127410
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA)	Uncertain significance; Conflicting classifications of pathogenicity	rs2487853219, rs780597592	RCV003238155 RCV003237832
Childhood onset hearing loss	Uncertain significance; Conflicting classifications of pathogenicity	rs1469714222, rs202143667	RCV001328032 RCV001328033
Cleft palate	Conflicting classifications of pathogenicity	rs370231679	RCV005626543
Congenital heart disease	Conflicting classifications of pathogenicity	rs764496155	RCV005626319
Developmental disorder	Uncertain significance	rs2150579970	RCV001843795
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	rs748779011	RCV005626834
Familial atrioventricular septal defect	Conflicting classifications of pathogenicity	rs143796440	RCV000984479
Familial cancer of breast	Likely benign	rs199981784	RCV005921343
Hypogonadism with anosmia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs377139749, rs886063025, rs71245513, rs886063033, rs886063045, rs886063023, rs1554568913, rs886063026, rs199675568, rs761460675, rs778800676, rs771806027, rs367722051, rs11322994, rs886063053, rs16926520 View all (1 more)	RCV000266990 RCV000338495 RCV000352029 RCV000275238 RCV000298672 RCV000273383 RCV000311769 RCV000321458 RCV000316154 RCV000295011 RCV000295140 RCV000323480 RCV000368654 RCV000361391 RCV000385250 RCV000310073 RCV000270205 RCV000395790 RCV000292166 RCV000368388 RCV000403471 RCV000377028 RCV000302370
Hypogonadotropic hypogonadism	Uncertain significance	rs2487812482	RCV006437150
Intellectual disability	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs766110936, rs1809054864, rs1809080744, rs753887911, rs748578338, rs935815422, rs763048936, rs1024326558	RCV001251704 RCV001251706 RCV001251710 RCV001251707 RCV001251705 RCV001251708 RCV001251711 RCV001251709
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs371509438, rs143898806, rs190548814, rs45461501, rs4737565	RCV005886602 RCV005915704 RCV005889789 RCV005894021 RCV005904003
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	rs1197494895	RCV003991588
Malignant tumor of esophagus	Benign	rs200026248	RCV005916729
Malignant tumor of urinary bladder	Benign; Likely benign	rs41305525	RCV005886601
Microcephaly	Uncertain significance	rs1805532225	RCV001252918
Monogenic hearing loss	Uncertain significance	rs2488042126	RCV006270248
Neurodevelopmental abnormality	Likely benign	rs1360515765	RCV001264718
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs45461501	RCV005894020
Pituitary stalk interruption syndrome	Uncertain significance	rs1805546453	RCV001257300
Premature ovarian failure	Benign; Likely benign	rs142962579	RCV001002740
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs750258756	RCV003319232
Pure gonadal dysgenesis 46,XY	Uncertain significance	rs2150779325	RCV001848622
Sarcoma	Benign	rs200026248, rs143898806	RCV005916730 RCV005915702
Squamous cell lung carcinoma	Benign; Likely benign	rs548706525	RCV005902115
Thymoma	Benign	rs200026248, rs143898806, rs867185114	RCV005916731 RCV005915703 RCV005917311
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs200026248, rs114996731	RCV005916732 RCV005888119
VATER association	Uncertain significance	rs2487812482	RCV005626664

Show/Hide Text Mining Associations (127)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
ACTH Deficiency Isolated	Associate	23526466
Adenocarcinoma	Associate	34128342
Albuminuria	Associate	28152519
Alcohol Related Disorders	Associate	33948885
Androgen Insensitivity Syndrome	Associate	34833359
Angina Stable	Associate	26813943
Arnold Chiari Malformation	Associate	24979395
Atrioventricular Septal Defect	Associate	25996639
Autism Spectrum Disorder	Associate	23849776, 33948885, 37052590
Autistic Disorder	Associate	16155193, 26590800, 33948885, 34368859
Autoimmune Lymphoproliferative Syndrome	Associate	16169932
Azoospermia	Associate	32573075
Brachial Plexus Neuritis	Associate	26813943
Breast Neoplasms	Associate	36059516
Carcinoma Endometrioid	Associate	36958196
Carcinoma Hepatocellular	Associate	30043858, 37885090, 39251909
Carotid Artery Diseases	Associate	21146804
Central Nervous System Vascular Malformations	Associate	21146804
Cerebrovascular Disorders	Associate	28152519
CHARGE Syndrome	Associate	15710038, 16118347, 16155193, 16169932, 16960397, 17436250, 18073582, 18505430, 18834967, 19021638, 19112063, 19403480, 21146804, 21158681, 21623345 View all (60 more)
Choanal Atresia	Associate	33184947
Choroiditis	Associate	35078197
Chromosome Duplication	Associate	28040132
Ciliary Motility Disorders	Associate	30359267
Cleft Lip	Associate	35385219
Cognition Disorders	Associate	30384553
Coloboma	Associate	17436250, 19403480, 22033296, 23215558, 30733481, 33184947, 34202106
Combined Pituitary Hormone Deficiency	Associate	31067328, 37231428
Congenital Abnormalities	Associate	26813943, 33948885, 35466136, 36587182, 36849876
Congenital anosmia	Associate	29255181
Congenital central hypoventilation syndrome	Associate	31060112
Craniofacial Abnormalities	Associate	29440260
Cryptorchidism	Associate	27561106, 31060112, 35078197
Deafness	Associate	19021638, 26813943, 29979396, 32247258, 35078197
Developmental Disabilities	Associate	23134727, 31315586, 33948885, 36849876
DiGeorge Syndrome	Associate	30244528
Disorder of Sex Development 46 XY	Associate	39285472
Disorders of Sex Development	Associate	26980296
Duane Retraction Syndrome	Associate	22258531
Ductus Arteriosus Patent	Associate	29945602
Dwarfism Pituitary	Associate	32267359, 37231428
Ear Diseases	Associate	17436250, 19021638, 29979396, 30733481, 32247258
Endometrial Neoplasms	Associate	36958196
Exotropia	Associate	34563184
Feeding and Eating Disorders	Associate	31146700
Follicle stimulating hormone deficiency isolated	Associate	23526466
gaze palsy familial horizontal with progressive scoliosis	Associate	23883829, 31924193
Growth Disorders	Associate	17436250, 30733481, 36502621
Hearing Loss	Associate	23533228, 29293505, 32681043, 34348883, 36833263
Hearing Loss Sensorineural	Associate	29986705, 36396635
Heart Defects Congenital	Associate	17436250, 23215558, 29536580, 30733481, 32341405, 33184947, 35078197, 37052590
Holoprosencephaly	Associate	16169932
Hydroa Vacciniforme	Associate	32682634
Hypertension	Associate	28152519
Hypertension Pulmonary	Associate	39542781
Hypogonadism	Associate	22724017, 23341491, 26199944, 26590800, 28209183, 29144511, 30098700, 30733481, 31220265, 32573075, 32724172, 32982993, 33270637, 33719213, 34348883 View all (6 more)
Hypopituitarism	Associate	37231428
Hypospadias	Associate	28209183
Hypothyroidism	Associate	37231428
Idiopathic Hypogonadotropic Hypogonadism	Associate	18834967, 19021638, 22035731, 33208564, 33775534, 34563184
Immunoglobulin G4 Related Disease	Associate	26813943
Infertility	Associate	27561106, 32573075
Infertility Male	Associate	32573075
Intellectual Disability	Associate	21931733, 23215558, 24253858, 26813943, 35837997, 37231428
Jensen syndrome	Associate	21931733
Kabuki syndrome	Associate	28475860
Kallmann Syndrome	Associate	16960397, 18834967, 19021638, 21682876, 22035731, 22399515, 23533228, 29255181, 29979396, 31628846, 32573075, 34563184, 37108593, 39596130
Kallmann Syndrome 2 with Bimanual Synkinesia	Associate	23533228
Kartagener Syndrome	Associate	35218153
Labyrinth Diseases	Associate	34348883
Learning Disabilities	Associate	32341405
Leukemia Myeloid Acute	Associate	36544784
Leydig Cell Hypoplasia	Associate	23526466
Liver Neoplasms	Associate	30317490
Lung Neoplasms	Associate	36211008
Lymphoma	Associate	30043858
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	32573075
Mannose Binding Protein Deficiency	Associate	33184947, 37231428
Microcephaly seizures genital hypoplasia	Associate	22033296, 30733481
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmia Syndromic 6	Associate	16169932, 17436250
Microphthalmos	Associate	33418956
Migraine Disorders	Associate	21146804
Mobility Limitation	Associate	26813943
Multiple Myeloma	Associate	38018590
Muscular Dystrophy Facioscapulohumeral	Associate	23526466
Musculoskeletal Abnormalities	Associate	26813943
Musculoskeletal Diseases	Associate	26813943
Myopathies Structural Congenital	Associate	30359267
Neoplasms	Associate	24211491, 28003584, 30043858, 31160355, 35979353, 36959665, 37052590, 37289025, 37967237
Nerve Sheath Neoplasms	Associate	33649458, 35766997
Nervous System Malformations	Associate	26813943
Neuroendocrine Tumors	Associate	37289025
Neurologic Manifestations	Associate	33323470
Noonan Syndrome	Associate	30359267
Olfaction Disorders	Associate	16960397, 29255181, 33719213
Oligospermia	Associate	32573075
Optic Nerve Hypoplasia	Associate	19021638
Orofaciodigital syndrome 9	Associate	23533228
Penis agenesis	Associate	31060112
Periodontitis	Associate	37215133
Photophobia	Associate	21146804
Pituitary Diseases	Associate	23526466
Prostatic Neoplasms Castration Resistant	Associate	37289025
Puberty Delayed	Associate	27561106
Pulmonary Atresia	Associate	17436250, 23215558, 30733481
Renal Genital and Middle Ear Anomalies	Associate	23215558
Scoliosis	Associate	17436250, 31924193
Semicircular Canal Dehiscence	Associate	19021638, 21931733, 22399515, 24979395, 26813943
Severe Combined Immunodeficiency	Associate	18505430
Shoulder Pain	Associate	26813943
Squamous Cell Carcinoma of Head and Neck	Associate	37697421
Stomach Neoplasms	Associate	30043858
Strabismus	Associate	30772522
Thyroid Cancer Papillary	Associate	36333684
Thyroid Neoplasms	Associate	37745716
Triple Negative Breast Neoplasms	Associate	35979353
Urinary Bladder Neoplasms	Associate	37542643
Urogenital Abnormalities	Associate	17436250
Uveal melanoma	Associate	37511120
VACTERL association	Associate	24416387
Vascular Diseases	Associate	28152519
Ventricular Outflow Obstruction	Associate	36478645
Ventricular Outflow Obstruction Right	Associate	35385219
Vestibulocochlear Nerve Diseases	Associate	24979395
Vision Disorders	Associate	26813943
Vomiting	Associate	21146804

CHD7 (chromodomain helicase DNA binding protein 7)