Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 Biomarker disease GENOMICS_ENGLAND Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 GeneticVariation disease UNIPROT Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 Biomarker disease GENOMICS_ENGLAND A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309 2000
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 GeneticVariation disease UNIPROT Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. 2060627 1991
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 Biomarker disease CTD_human
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 CausalMutation disease CLINVAR
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
0.700 GermlineCausalMutation disease ORPHANET