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Cerebrocostomandibular syndrome
Cerebrocostomandibular syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CEREBRO-COSTO-MANDIBULAR SYNDROME
SNRPB
Causal
25047197
25504470
ClinVar
Spliceosome
Systemic lupus erythematosus
SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
+5 more
CEREBROCOSTOMANDIBULAR SYNDROME
117650
1393
C0265342
MESH:C562538
MONDO:0007301
SNRPB
Unknown
25047197
CTD
,
Disgenet
,
GenCC
,
HPO
,
Orphanet
Spliceosome
Systemic lupus erythematosus
SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
+5 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
1
CTD
1
HPO
1
GWAS catalog
0
GenCC
1
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Cerebrocostomandibular syndrome.
4
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Mixed connective tissue disease
1 shared gene
SNRPB
Related via 1 shared gene including SNRPB.
Stomach neoplasms
1 shared gene
SNRPB
Related via 1 shared gene including SNRPB.
Desbuquois syndrome
1 shared gene
SNRPB
Related via 1 shared gene including SNRPB.
Intellectual developmental disorder
1 shared gene
SNRPB
Related via 1 shared gene including SNRPB.
1
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