Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker CLINGEN PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described. 28448692

2017
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker 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
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker CLINGEN Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. 25743180

2015
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker CLINGEN Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 24027063

2013
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker 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
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.970 Biomarker CLINGEN 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