Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514513
rs397514513
Entrez Id: 113612;107986298
Gene Symbol: CYP2U1;LOC107986298
CYP2U1;LOC107986298
CUI: C3539507
Disease:
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
dbSNP: rs397514513
rs397514513
Entrez Id: 113612;107986298
Gene Symbol: CYP2U1;LOC107986298
CYP2U1;LOC107986298
CUI: C3539507
Disease:
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR