ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
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: rs7267979
rs7267979
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0201850
Disease:
Alkaline phosphatase measurement 		G 0.800 GeneticVariation GWASDB Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757 2011
dbSNP: rs7267979
rs7267979
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0201850
Disease:
Alkaline phosphatase measurement 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757 2011
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: rs2236180
rs2236180
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1518922
Disease:
peak expiratory flow (procedure) 		T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs2236180
rs2236180
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0016529
Disease:
Forced expiratory volume function 		T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs746748
rs746748
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1629609
Disease:
Age at menopause 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C4072872
Disease:
obsolete Rod-cone dystrophy 		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: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0029124
Disease:
Optic Atrophy 		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: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0151889
Disease:
Hyperreflexia 		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: rs1555817157
rs1555817157
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0152025
Disease:
Polyneuropathy 		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