ELMOD3, ELMO domain containing 3, 84173

N. diseases: 11; N. variants: 2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2829267
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88
DEAFNESS, AUTOSOMAL RECESSIVE 88 		0.700 GeneticVariation disease UNIPROT An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 24039609 2013
CUI: C2829267
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88
DEAFNESS, AUTOSOMAL RECESSIVE 88 		0.700 Biomarker disease CLINGEN An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 24039609 2013
CUI: C2829267
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88
DEAFNESS, AUTOSOMAL RECESSIVE 88 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2829267
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88
DEAFNESS, AUTOSOMAL RECESSIVE 88 		0.700 Biomarker disease CTD_human
CUI: C2829267
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88
DEAFNESS, AUTOSOMAL RECESSIVE 88 		0.700 CausalMutation disease CLINVAR