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Cerebro-oculo-facio-skeletal syndrome 2
Cerebro-oculo-facio-skeletal syndrome 2
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Subtype of:
Cerebrooculofacioskeletal syndrome
·
Oculo-skeletal syndrome
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Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Cerebro-oculo-facio-skeletal syndrome 2
MONDO_0012553
ERCC2
Unknown
11443545
Open Targets
Basal transcription factors
Nucleotide excision repair
Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision 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
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
+19 more
Cerebro-oculo-facio-skeletal syndrome type 2
MONDO_0012553
ERCC2
Unknown
15220921
9101292
7849702
7920640
8571952
7585650
11709541
9758621
9012405
11443545
9195225
Open Targets
Basal transcription factors
Nucleotide excision repair
Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision 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
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
+19 more
All
1
Causal
0
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
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Related via 1 shared gene including ERCC2.
Trichothiodystrophy 1, photosensitive
1 shared gene
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Related via 1 shared gene including ERCC2.
Xeroderma pigmentosum-cockayne syndrome
1 shared gene
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Related via 1 shared gene including ERCC2.
Cerebrooculofacioskeletal syndrome
1 shared gene
ERCC2
Related via 1 shared gene including ERCC2.
Congenital skin anomaly
1 shared gene
ERCC2
Related via 1 shared gene including ERCC2.
1
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