CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756205995
rs756205995
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C4310800
Disease:
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. 27153400 2016
dbSNP: rs756205995
rs756205995
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C4310800
Disease:
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR