DisGeNET - a database of gene-disease associations

SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, C3539507

Variant: rs767024102 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs767024102

rs767024102

CYP2U1 ; LOC107986298

C

0.700

CausalMutation

CLINVAR

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

2012