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De sanctis-cacchione syndrome
De sanctis-cacchione syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DE SANCTIS-CACCHIONE SYNDROME
278800
C0265201
MESH:C535992
ERCC6
Causal
10767341
CTD
,
ClinVar
,
Disgenet
,
HPO
Nucleotide excision repair
B-WICH complex positively regulates rRNA expression
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
RNA Polymerase I Transcription Initiation
+4 more
PGBD3
Unknown
—
Disgenet
—
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
0
Disgenet
2
CTD
1
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
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Uv-sensitive syndrome
2 shared genes
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Related via 2 shared genes including ERCC6, PGBD3.
Cerebrooculofacioskeletal syndrome
2 shared genes
ERCC6, PGBD3
Related via 2 shared genes including ERCC6, PGBD3.
Cockayne syndrome
2 shared genes
ERCC6, PGBD3
Related via 2 shared genes including ERCC6, PGBD3.
Arthrogryposis
1 shared gene
ERCC6
Related via 1 shared gene including ERCC6.
Growth disorder
1 shared gene
ERCC6
Related via 1 shared gene including ERCC6.
1
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