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Vacterl association
Vacterl association
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
C2931228
314390
MONDO:0010752
FANCL
Causal
—
Disgenet
Fanconi anemia pathway
Ubiquitin mediated proteolysis
Fanconi Anemia Pathway
ZIC3
Causal
—
ClinVar
,
Disgenet
,
GenCC
,
HPO
Signaling pathways regulating pluripotency of stem cells
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Transcriptional regulation of pluripotent stem cells
All
16
Causal
2
Unknown
16
Select all
Clear
ClinVar
1
Orphanet
0
Disgenet
2
CTD
0
HPO
1
GWAS catalog
0
GenCC
1
ClinGen
0
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5
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Congenital malformation syndromes predominantly involving limbs
2 shared genes
DLX5, SMOC1
Related via 2 shared genes including DLX5, SMOC1.
Klippel-trenaunay syndrome
2 shared genes
DLX5, SMOC1
Related via 2 shared genes including DLX5, SMOC1.
Rubinstein-taybi syndrome
2 shared genes
DLX5, SMOC1
Related via 2 shared genes including DLX5, SMOC1.
Cowden disease
2 shared genes
PTEN, KLLN
Related via 2 shared genes including PTEN, KLLN.
Congenital anomaly of limb
2 shared genes
SALL1, HOXD13
Related via 2 shared genes including SALL1, HOXD13.
1
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