| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. | 19955343 | 2009 | ||||
|
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 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Non-neuronopathic Gaucher disease due to saposin C deficiency. | 17919309 | 2007 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.010 | AlteredExpression | disease | BEFREE | In contrast to acid ceramidase deficient cells, both the accumulation of ceramide and the reduced in vitro activity of acid ceramidase in cells from prosaposin deficiency could be corrected by addition of purified saposin D. The data confirm that prosaposin is required for lysosomal ceramide degradation, but not for sphingomyelin turnover. | 9204210 | 1997 |