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Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Schinzel-Giedion syndrome
SETBP1
Causal
25217958
26096993
32460883
23020937
25356899
25028416
20436468
21037274
22473152
26188272
25663181
32445275
28346496
25082129
29463886
ClinGen
—
All
1
Causal
1
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
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Intellectual developmental disorder expressive speech dysmorphic
1 shared gene
SETBP1
Related via 1 shared gene including SETBP1.
Bundle branch block
1 shared gene
SETBP1
Related via 1 shared gene including SETBP1.
Intellectual developmental disorder speech dysmorphic
1 shared gene
SETBP1
Related via 1 shared gene including SETBP1.
Cerebral atrophy
1 shared gene
SETBP1
Related via 1 shared gene including SETBP1.
Penile hypospadia
1 shared gene
SETBP1
Related via 1 shared gene including SETBP1.
1
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