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Richieri costa pereira syndrome
Richieri costa pereira syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
RICHIERI COSTA PEREIRA SYNDROME
C1849348
MESH:C535677
EIF4A3
Unknown
—
CTD
,
Disgenet
Nucleocytoplasmic transport
mRNA surveillance pathway
Spliceosome
ISG15 antiviral mechanism
Transport of Mature mRNA derived from an Intron-Containing Transcript
Deadenylation of mRNA
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
+7 more
RICHIERI COSTA-PEREIRA SYNDROME
3102
MONDO:0009998
EIF4A3
Causal
24360804
24360810
ClinVar
,
Orphanet
Nucleocytoplasmic transport
mRNA surveillance pathway
Spliceosome
ISG15 antiviral mechanism
Transport of Mature mRNA derived from an Intron-Containing Transcript
Deadenylation of mRNA
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
+7 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
1
CTD
1
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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