CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519591
rs1057519591
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		G 0.700 GeneticVariation CLINVAR Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006