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: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.800 GeneticVariation UNIPROT Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 16670177 2006
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.800 GeneticVariation UNIPROT Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		T 0.800 CausalMutation CLINVAR