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Epilepsy and intellectual disability
Epilepsy and intellectual disability
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Subtype of:
Epilepsy
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
epilepsy and intellectual disability
MONDO_0030922
MONDO_0044326
MONDO_0030921
CLTC
Unknown
26822784
29100083
30337205
31776469
33041083
34230591
37196051
38111042
Open Targets
Lysosome
Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Huntington disease
Bacterial invasion of epithelial cells
Entry of Influenza Virion into Host Cell via Endocytosis
Retrograde neurotrophin signalling
Gap junction degradation
Formation of annular gap junctions
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance
+18 more
DHDDS
Unknown
29100083
Open Targets
Terpenoid backbone biosynthesis
Synthesis of Dolichyl-phosphate
Defective DHDDS causes retinitis pigmentosa 59
NUS1
Unknown
29100083
Open Targets
Terpenoid backbone biosynthesis
Synthesis of Dolichyl-phosphate
Defective DHDDS causes retinitis pigmentosa 59
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
3
Related Diseases
Diseases that share the most curated genes with Epilepsy and intellectual disability.
5
View disease cluster →
Fetal growth restriction
1 shared gene
CLTC
Related via 1 shared gene including CLTC.
Mental retardation, autosomal dominant 56
1 shared gene
CLTC
Related via 1 shared gene including CLTC.
Intellectual developmental disorder, autosomal dominant 56
1 shared gene
CLTC
Related via 1 shared gene including CLTC.
Intellectual developmental disorder, autosomal dominant 55, with seizures
1 shared gene
NUS1
Related via 1 shared gene including NUS1.
Mental retardation, autosomal dominant 55, with seizures
1 shared gene
NUS1
Related via 1 shared gene including NUS1.
1
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