DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs869320690, ALDH18A1

N. diseases: 1

Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE

CUI:	C4225272
Disease:	SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

26026163

2015

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE

CUI:	C4225272
Disease:	SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR