PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Combined Saposin Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 CausalMutation disease CLINVAR Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. 19955343 2009
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 GeneticVariation disease BEFREE Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. 19267410 2009
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. 11309366 2001
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 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
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 GermlineCausalMutation disease ORPHANET Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. 1371116 1992
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND The eligibility of older people for community services: mental health aspects. Roles and attitudes toward retirement and pre-retirement planning. 249900 1978
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease CTD_human