full name
chromodomain helicase DNA binding protein 7

synonyms
HH5, IS3, KAL5, CHD7, ENSG00000171316

HGNC
HGNC:20626

Entrez Gene
Gene:55636

ENSEMBL
ENSG00000171316

location
chr: 8
start: 61591321
stop: 61780587
strand: +

OMIM
OMIM:608892: CHD7 (Autosomal dominant inheritance,Sporadic)
OMIM:214800: CHARGE syndrome
OMIM:612370: Hypogonadotropic hypogonadism 5 with or without anosmia

transcripts
NM_017780.3

pathways
Noncanonical Wnt signaling pathway [NCBI:169354] [Pathway Interaction Database:wnt_noncanonical_pathway] [PUBMED:11408485] [PUBMED:20457807] [PUBMED:17646398] [PUBMED:15509575] [PUBMED:10391247] [PUBMED:12482967] [PUBMED:10777564] [PUBMED:19720827] [PUBMED:18667433] [PUBMED:18162551] [PUBMED:18215320] [PUBMED:17101698] [PUBMED:12839624] [PUBMED:19910923] [PUBMED:10395542] [PUBMED:15121866] [PUBMED:11779461] [PUBMED:16880514] [PUBMED:18606138] [PUBMED:12771126] [PUBMED:18615587] [PUBMED:17952062]