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Renpenning syndrome
Renpenning syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Renpenning syndrome
MONDO_0010653
PQBP1
Causal
13981686
14634649
16493439
16740914
17033686
20410308
21315190
23512658
26046437
31718390
3177467
7943045
ClinGen
,
Open Targets
Spliceosome
mRNA Splicing - Major Pathway
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
Open Targets
1
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Related via 1 shared gene including PQBP1.
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1 shared gene
PQBP1
Related via 1 shared gene including PQBP1.
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1 shared gene
PQBP1
Related via 1 shared gene including PQBP1.
X-linked intellectual disability
1 shared gene
PQBP1
Related via 1 shared gene including PQBP1.
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1 shared gene
PQBP1
Related via 1 shared gene including PQBP1.
1
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