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Combined saposin deficiency
Combined saposin deficiency
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
COMBINED SAPOSIN DEFICIENCY
C2673635
611721
MESH:C567125
CDH23
Unknown
—
Disgenet
—
PSAP
Unknown
1371116
11309366
CTD
,
Disgenet
,
HPO
Sphingolipid metabolism
Lysosome
Platelet degranulation
Glycosphingolipid metabolism
Peptide ligand-binding receptors
G alpha (i) signalling events
Neutrophil degranulation
+4 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
1
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Combined saposin deficiency.
5
View disease cluster →
Combined psap deficiency
1 shared gene
PSAP
Related via 1 shared gene including PSAP.
Gaucher disease due to saposin C deficiency
1 shared gene
PSAP
Related via 1 shared gene including PSAP.
Krabbe disease due to saposin A deficiency
1 shared gene
PSAP
Related via 1 shared gene including PSAP.
Pituitary adenoma
1 shared gene
CDH23
Related via 1 shared gene including CDH23.
Metachromatic leukodystrophy
2 shared genes
PSAP, CDH23
Related via 2 shared genes including PSAP, CDH23.
1
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