FA2H, fatty acid 2-hydroxylase, 79152

N. diseases: 131; N. variants: 14
Disease: Muscle Spasticity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype BEFREE In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with spasticity and dystonia) spectrum. 31135052 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 GeneticVariation phenotype CLINVAR