ELMOD3, ELMO domain containing 3, 84173

N. diseases: 11; N. variants: 2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777040
rs587777040
Entrez Id: 84173
Gene Symbol: ELMOD3
ELMOD3
CUI: C2829267
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 88 		0.800 GeneticVariation UNIPROT An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 24039609 2013
dbSNP: rs587777040
rs587777040
Entrez Id: 84173
Gene Symbol: ELMOD3
ELMOD3
CUI: C2829267
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 88 		C 0.800 CausalMutation CLINVAR