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Neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
Neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
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Subtype of:
Neurodevelopmental disorder
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
MONDO_0100038
EIF3A
Unknown
41033306
Open Targets
L13a-mediated translational silencing of Ceruloplasmin expression
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
+3 more
EIF3B
Unknown
41033306
Open Targets
L13a-mediated translational silencing of Ceruloplasmin expression
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
+3 more
All
2
Causal
0
Unknown
2
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Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
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