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Mental retardation, truncal obesity, retinal dystrophy, and micropenis
Mental retardation, truncal obesity, retinal dystrophy, and micropenis
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Subtype of:
Intellectual disability
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(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Mental retardation-truncal obesity-retinal dystrophy-micropenis
MONDO_0012423
INPP5E
Unknown
19668216
19668215
Open Targets
Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Synthesis of PIPs at the Golgi membrane
ARL13B-mediated ciliary trafficking of INPP5E
+2 more
MORM syndrome
INPP5E
Causal
—
ClinGen
Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Synthesis of PIPs at the Golgi membrane
ARL13B-mediated ciliary trafficking of INPP5E
+2 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
1
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Related via 1 shared gene including INPP5E.
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1
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