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Branchiooculofacial syndrome
Branchiooculofacial syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BRANCHIOOCULOFACIAL SYNDROME
C0376524
113620
MONDO:0007235
EYA1
Causal
—
Disgenet
Transcriptional misregulation in cancer
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
TFAP2A
Causal
31490282
ClinVar
,
Disgenet
,
HPO
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
TFAP2 (AP-2) family regulates transcription of other transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
TFAP2 (AP-2) family regulates transcription of cell cycle factors
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
+4 more
All
2
Causal
2
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
0
Disgenet
2
CTD
0
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
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Related via 1 shared gene including EYA1.
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1 shared gene
EYA1
Related via 1 shared gene including EYA1.
Branchiootorenal syndrome
2 shared genes
TFAP2A, EYA1
Related via 2 shared genes including TFAP2A, EYA1.
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1 shared gene
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Related via 1 shared gene including EYA1.
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1 shared gene
EYA1
Related via 1 shared gene including EYA1.
1
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