ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 Biomarker disease BEFREE PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. 29571850 2018
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 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: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 Biomarker disease BEFREE ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. 27890673 2017
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 Biomarker disease BEFREE This result suggests that the involvement of ABHD12 in polyneuropathies is possibly underestimated. 28448692 2017
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 Biomarker disease BEFREE PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a recently described autosomal-recessive neurodegenerative disease caused by mutations in the α-β-hydrolase domain-containing 12 gene (ABHD12). 24027063 2013
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 GeneticVariation disease BEFREE Here, we use untargeted metabolomics combined with a genetic mouse model to determine that the poorly characterized serine hydrolase α/β-hydrolase domain-containing (ABHD)12, mutations in which cause the human neurodegenerative disorder PHARC (polyneuropathy, hearing loss, ataxia, retinosis pigmentosa, and cataract), is a principal lysophosphatidylserine (LPS) lipase in the mammalian brain. 23297193 2013
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 GeneticVariation disease BEFREE After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. 22938382 2012
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.160 Biomarker disease HPO