ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772987424
rs772987424
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 GeneticVariation UNIPROT Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. 27890673 2017
dbSNP: rs772987424
rs772987424
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 GeneticVariation UNIPROT Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
dbSNP: rs772987424
rs772987424
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 GeneticVariation UNIPROT Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180 2015
dbSNP: rs772987424
rs772987424
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 GeneticVariation UNIPROT Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. 22938382 2012
dbSNP: rs772987424
rs772987424
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 GeneticVariation UNIPROT Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 24027063 2013
dbSNP: rs776800006
rs776800006
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs886039872
rs886039872
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		A 0.700 GeneticVariation CLINVAR