OTOG, otogelin, 340990

N. diseases: 10; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514607
rs397514607
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.800 GeneticVariation UNIPROT Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 23122587 2012
dbSNP: rs397514607
rs397514607
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		T 0.800 CausalMutation CLINVAR
dbSNP: rs78894156
rs78894156
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C0004096
Disease:
Asthma 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. 25918132 2015
dbSNP: rs1029389440
rs1029389440
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565127413
rs1565127413
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C0011053
Disease:
Deafness 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1565129771
rs1565129771
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397514608
rs397514608
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs554847663
rs554847663
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs574007567
rs574007567
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		G 0.700 CausalMutation CLINVAR
dbSNP: rs866476223
rs866476223
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3554163
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		T 0.700 CausalMutation CLINVAR