Gene: CAPN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.050 GeneticVariation disease BEFREE Mutations in <i>CAPN1</i> have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP) with a combination of cerebellar ataxia and corticomotor tract disorder (SPG76). 31231303 2019
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.050 GeneticVariation disease BEFREE Several families with CAPN1 mutations have recently been reported to present with autosomal recessive (AR) HSP and/or ataxia. 30572172 2019
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.050 Biomarker disease BEFREE By reviewing the clinical manifestations of SPG76 patients, we validated the "spastic-ataxia" phenotype and emphasized the association between spasticity and ataxia, indicating the importance of CAPN1 screening in HSP patients. 31023339 2019
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.050 Biomarker disease BEFREE They include new HCAs genes such as GRM1 (SCA44), FAT2 (SCA45), PLD3 (SCA46), SCYL1 (SCAR21), UBA5 (SCAR24) and XRCC1 (SCAR26) as well as CAPN1 (SPG76) and CPT1C (SPG73) in HSPs. 29847346 2018
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.050 GeneticVariation disease BEFREE The identification of mutations in CAPN1 in HSP expands our understanding of the disease causes and potential mechanisms. 27153400 2016