OTOG, otogelin, 340990

N. diseases: 10; N. variants: 9
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 GeneticVariation disease BEFREE The gene disrupted in eis is otogelin (otog); mutations in the human OTOG gene have recently been identified as causative for deafness and vestibular dysfunction (DFNB18B). 25758224 2015
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 Biomarker disease MGD A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment. 26636018 2015
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 GeneticVariation disease UNIPROT Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 23122587 2012
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 Biomarker disease GENOMICS_ENGLAND Otogelin: a glycoprotein specific to the acellular membranes of the inner ear. 9405633 1997
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 Biomarker disease CTD_human
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 GeneticVariation disease CLINVAR
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.910 CausalMutation disease CLINVAR