ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4509920
Disease: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome 		0.020 GeneticVariation disease BEFREE PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described. 28448692 2017
CUI: C4509920
Disease: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome 		0.020 GeneticVariation disease BEFREE 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