TMIE, transmembrane inner ear, 259236

N. diseases: 5; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942096
rs28942096
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		0.800 GeneticVariation UNIPROT Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. 12145746 2002
dbSNP: rs28942097
rs28942097
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		0.800 GeneticVariation UNIPROT Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. 12145746 2002
dbSNP: rs28942096
rs28942096
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28942097
rs28942097
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28941781
rs28941781
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		0.700 GeneticVariation UNIPROT Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. 12145746 2002
dbSNP: rs267607120
rs267607120
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657371
rs876657371
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		C 0.700 CausalMutation CLINVAR
dbSNP: rs876661301
rs876661301
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1832992
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 6 		G 0.700 CausalMutation CLINVAR
dbSNP: rs750584965
rs750584965
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE However, a missense variant (c.257G>A) and one promoter variant (g.1-219A>T) were found in two patients with nonsyndromic hearing loss. 20206386 2010