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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55636
Gene name Gene Name - the full gene name approved by the HGNC.	Chromodomain helicase DNA binding protein 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHD7
Synonyms (NCBI Gene) Gene synonyms aliases	CRG, HH5, IS3, KAL5
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HH5, IS3
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001501	Process	Skeletal system development	IMP	16155193
GO:0001701	Process	In utero embryonic development	IMP	15300250
GO:0001974	Process	Blood vessel remodeling	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:0003678	Function	DNA helicase activity	IEA
GO:0003682	Function	Chromatin binding	TAS	17299439
GO:0005515	Function	Protein binding	IPI	20130577, 20453063
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	20453063
GO:0005634	Component	Nucleus	TAS	17299439
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	17937444
GO:0006364	Process	RRNA processing	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:0007628	Process	Adult walking behavior	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	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:0032508	Process	DNA duplex unwinding	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	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:0042472	Process	Inner ear morphogenesis	IMP	15300250
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:0048806	Process	Genitalia development	IMP	15300250
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050890	Process	Cognition	IMP	16155193
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	IMP	17937444
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:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
608892	20626	ENSG00000171316

Protein

UniProt ID

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

Show/Hide Causal Diseases (44)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Cryptorchidism	Cryptorchidism, Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Hearing loss	Sensorineural Hearing Loss (disorder), Hearing Loss, Mixed Conductive-Sensorineural	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Holoprosencephaly	Holoprosencephaly	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040 View all (76 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139	18074359
Hypogonadotropic hypogonadism with or without anosmia	HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	rs387906271, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514 View all (110 more)	25077900, 26538304, 16155193, 21931733, 18834967, 21158681, 15300250, 25119037, 22033296, 18074359
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Micropenis	Micropenis	rs104893667, rs9332964
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	20186815, 25472840, 17299439, 21378379, 22461308, 15300250, 18834967, 21532573, 26590800, 15666308, 22495309, 20130577, 16155193, 10590394, 23883829 View all (6 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910 View all (152 more)
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159 View all (197 more)
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Transposition of great vessels	Transposition of Great Vessels	rs869312707, rs1555246154, rs1565995034, rs1565995146, rs1029377279, rs1565997261, rs1566010195, rs1566005476, rs1870202051
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (8)

Disease term	Disease name	References	Source
Unknown
Cleft palate and bilateral cleft lip	Cleft palate and bilateral cleft lip		ClinVar
Mental depression	Depressive disorder, Major Depressive Disorder	29728651	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney		ClinVar
Hypogonadotropic Hypogonadism With Or Without Anosmia	hypogonadotropic hypogonadism 5 with or without anosmia		GenCC
Mental Depression	Mental Depression		GWAS
Hyperopia	Hyperopia		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (127)

Disease Name	Relationship Type	References
Associations from Text Mining
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)