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Burn-mckeown syndrome
Burn-mckeown syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BURN-MCKEOWN SYNDROME
1200
C1837822
608572
MESH:C537411
POLR1A
Unknown
25913037
Disgenet
,
Orphanet
RNA polymerase
B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
+2 more
TXNL4A
Unknown
25434003
CTD
,
Disgenet
,
HPO
,
Orphanet
Spliceosome
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
2
CTD
1
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Burn-mckeown syndrome.
5
View disease cluster →
Choanal atresia syndrome
2 shared genes
POLR1A, TXNL4A
Related via 2 shared genes including POLR1A, TXNL4A.
Acrofacial dysostosis
1 shared gene
POLR1A
Related via 1 shared gene including POLR1A.
Hypomyelinating leukodystrophy
1 shared gene
POLR1A
Related via 1 shared gene including POLR1A.
Cardiovascular disease
1 shared gene
POLR1A
Related via 1 shared gene including POLR1A.
Desbuquois syndrome
1 shared gene
POLR1A
Related via 1 shared gene including POLR1A.
1
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