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: 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: rs2297497
rs2297497
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs267606624
rs267606624
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397704714
rs397704714
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		GGCTCTTA 0.700 CausalMutation CLINVAR
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: 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: 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: 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: 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: 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: 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: 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: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation BEFREE Another homozygous mutation (p.His372Gln) was detected in 1 affected individual (RP-1487) from a cohort of 378 unrelated arRP and syndromic RP patients. 24697911 2014
dbSNP: rs587777602
rs587777602
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Another homozygous mutation (p.His372Gln) was detected in 1 affected individual (RP-1487) from a cohort of 378 unrelated arRP and syndromic RP patients. 24697911 2014
dbSNP: rs587777603
rs587777603
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease:
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		T 0.700 CausalMutation CLINVAR
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: 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: 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: 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: 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: 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: 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: 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: 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