ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: Nystagmus, CTCAE 5.0 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.400 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.400 Biomarker phenotype HPO