CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease BEFREE The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. 30611022 2019
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia. 28566166 2017
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. 27153400 2016
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR