DisGeNET - a database of gene-disease associations

SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE, C4310800

Variant: rs756205995 ×

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:

rs756205995

rs756205995

CAPN1

0.800

GeneticVariation

UNIPROT

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

2016

dbSNP:

rs756205995

rs756205995

CAPN1

C

0.800

CausalMutation

CLINVAR