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Oculocerebrorenal syndrome
Oculocerebrorenal syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
OCULOCEREBRORENAL SYNDROME
C0028860
MESH:D009800
MONDO:0010645
OCRL
Unknown
9430698
CTD
,
ClinGen
,
Disgenet
,
GenCC
Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Rho GTPase cycle
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis
+7 more
OCULOCEREBRORENAL SYNDROME OF LOWE
534
OCRL
Unknown
20301653
Orphanet
,
ClinGen
Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Rho GTPase cycle
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis
+7 more
All
1
Causal
0
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
1
CTD
1
HPO
0
GWAS catalog
0
GenCC
1
ClinGen
1
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Diseases that share the most curated genes with Oculocerebrorenal syndrome.
3
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Dent disease
1 shared gene
OCRL
Related via 1 shared gene including OCRL.
Congenital cataract
1 shared gene
OCRL
Related via 1 shared gene including OCRL.
Intellectual developmental disorder
1 shared gene
OCRL
Related via 1 shared gene including OCRL.
1
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