| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.620 | GeneticVariation | disease | BEFREE | We present this case to add to the literature on the rare diagnosis of atypical Krabbe disease due to saposin A deficiency, to report a novel presumed pathogenic variant within PSAP, and to suggest that individuals with saposin A deficiency may have elevated levels of psychosine, similar to children with classic Krabbe disease due to GALC deficiency. | 31439510 | 2020 | ||||
|
0.620 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.620 | Biomarker | disease | GENOMICS_ENGLAND | A practical approach to diagnosing adult onset leukodystrophies. | 24357685 | 2014 | ||||
|
0.620 | Biomarker | disease | GENOMICS_ENGLAND | Non-neuronopathic Gaucher disease due to saposin C deficiency. | 17919309 | 2007 | ||||
|
0.620 | Biomarker | disease | GENOMICS_ENGLAND | A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. | 15773042 | 2005 | ||||
|
0.620 | GeneticVariation | disease | BEFREE | A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. | 15773042 | 2005 | ||||
|
0.620 | 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 | ||||
|
0.620 | CausalMutation | disease | CLINVAR | |||||||
|
0.620 | Biomarker | disease | CTD_human | |||||||
|
0.010 | Biomarker | disease | BEFREE | Human globoid cell leukodystrophy owing to saposin A deficiency might be anticipated and should be suspected in human patients with a late-onset leukodystrophy with normal galactosylceramidase activity when other possibilities are also excluded. | 14572137 | 2003 |