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: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 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: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 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: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. 27890673 2017
dbSNP: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. 27890673 2017
dbSNP: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180 2015
dbSNP: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180 2015
dbSNP: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
dbSNP: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
dbSNP: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 24027063 2013
dbSNP: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 24027063 2013
dbSNP: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 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: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 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: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. 20797687 2010
dbSNP: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 GeneticVariation UNIPROT Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. 20797687 2010
dbSNP: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777604
rs587777604
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		A 0.700 CausalMutation CLINVAR 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 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 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 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 Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
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: 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 Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. 20797687 2010
dbSNP: rs1303044966
rs1303044966
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		C 0.700 CausalMutation CLINVAR