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Parkes weber syndrome
Parkes weber syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
PARKES WEBER SYNDROME
C5574870
90307
MONDO:0012017
CCNH
Unknown
—
Disgenet
Basal transcription factors
Nucleotide excision repair
Cell cycle
Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
Cyclin E associated events during G1/S transition
Cyclin D associated events in G1
Cyclin A/B1/B2 associated events during G2/M transition
Cyclin A:Cdk2-associated events at S phase entry
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE
RUNX1 regulates transcription of genes involved in differentiation of HSCs
+24 more
RASA1
Unknown
18446851
21348050
ClinVar
,
Disgenet
,
GWAS catalog
,
Orphanet
MAPK signaling pathway
Ras signaling pathway
Axon guidance
Downstream signal transduction
EPHB-mediated forward signaling
VEGFR2 mediated cell proliferation
Regulation of RAS by GAPs
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
+5 more
All
3
Causal
1
Unknown
2
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
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Developmental venous anomaly
2 shared genes
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Related via 2 shared genes including RASA1, CCNH.
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2 shared genes
RASA1, CCNH
Related via 2 shared genes including RASA1, CCNH.
Klippel-trenaunay syndrome
2 shared genes
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Related via 2 shared genes including RASA1, CCNH.
Arteriovenous malformations
1 shared gene
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Related via 1 shared gene including RASA1.
Capillary malformation-arteriovenous malformation
2 shared genes
RASA1, CCNH
Related via 2 shared genes including RASA1, CCNH.
1
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