ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease BEFREE Therefore, we also conducted a summary based on variants in ABHD12 in PHARC patients, and in PHARC patients showing that there was no obvious correlation between the genotype and phenotype. 30974196 2019
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease BEFREE Aging and ABHD12 deletion drove widespread changes in the CNS lipidome; however, the effects of ABHD12 deletion were similar between old and young mice, meaning that many alterations in the lipidome precede PHARC-like symptoms. 31213981 2019
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease BEFREE Taken together, our findings provide a biochemical explanation for why very-long-chain lipids (such as lysophosphatidylserine lipids) accumulate in the brains of ABHD12 knockout mice, which is a murine model of PHARC. 30237167 2018
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 CausalMutation disease CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease UNIPROT Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease GENOMICS_ENGLAND Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease CLINGEN PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described. 28448692 2017
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease UNIPROT Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. 27890673 2017
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease CLINGEN Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. 27890673 2017
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease BEFREE Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. 27890673 2017
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease BEFREE Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180 2015
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease CLINGEN Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180 2015
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease UNIPROT Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180 2015
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease UNIPROT Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration. 24697911 2014
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease GENOMICS_ENGLAND Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration. 24697911 2014
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease CLINGEN Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 24027063 2013
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease UNIPROT Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 24027063 2013
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease BEFREE Notably, elevations in brain LPS lipids in ABHD12(-/-) mice occur early in life (2-6 mo) and are followed by age-dependent increases in microglial activation and auditory and motor defects that resemble the behavioral phenotypes of human PHARC patients. 23297193 2013
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease MGD Notably, elevations in brain LPS lipids in ABHD12(-/-) mice occur early in life (2-6 mo) and are followed by age-dependent increases in microglial activation and auditory and motor defects that resemble the behavioral phenotypes of human PHARC patients. 23297193 2013
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease CLINGEN 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
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease 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
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GermlineCausalMutation disease ORPHANET Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries. 20797687 2010
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease UNIPROT Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries. 20797687 2010
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker disease GENOMICS_ENGLAND Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries. 20797687 2010
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 GeneticVariation disease BEFREE Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries. 20797687 2010