The annotation has been inferred from sequence or structural similarity with Psap (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
Curation Notes: ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
An association has been curated linking PSAP
and combined saposin deficiency in Homo sapiens.
The association was inferred by association of genotype and phenotype (IAGP)
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
Curation Notes: ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency