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Cerebellofaciodental syndrome
Cerebellofaciodental syndrome
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Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BRF1-related cerebellofaciodental syndrome
EFO_0009030
BRF1
Unknown
32896090
27748960
25561519
Open Targets
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
Cerebellar-facial-dental syndrome
444072
MONDO:0014529
BRF1
Causal
25561519
27748960
32896090
CTD
,
ClinVar
,
Orphanet
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
cerebellofaciodental syndrome
616202
C4015495
OMIM:616202
EFO_0009030
BRF1
Unknown
25561519
27748960
32896090
CTD
,
Disgenet
,
HPO
,
Open Targets
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
1
CTD
1
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
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Congenital microcephaly
1 shared gene
BRF1
Related via 1 shared gene including BRF1.
Huntington disease
1 shared gene
BRF1
Related via 1 shared gene including BRF1.
Congenital heart defects
1 shared gene
BRF1
Related via 1 shared gene including BRF1.
Colorectal adenoma
1 shared gene
BRF1
Related via 1 shared gene including BRF1.
Developmental and epileptic encephalopathy
1 shared gene
BRF1
Related via 1 shared gene including BRF1.
1
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