DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs200079802, SPG11;EIF3J

N. diseases: 1

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 11, autosomal recessive

CUI:	C1858479
Disease:	Spastic paraplegia 11, autosomal recessive

0.700

CausalMutation

CLINVAR

Spastic paraplegia 11, autosomal recessive

CUI:	C1858479
Disease:	Spastic paraplegia 11, autosomal recessive

0.700

GeneticVariation

CLINVAR

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

19194956

2009