Uv-sensitive syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
UV-SENSITIVE SYNDROME	178338 C1833561 MESH:C563466 MONDO:0015797	ERCC6	Unknown	15486090 26972010	CTD, Disgenet, GenCC, Orphanet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ERCC8	Unknown	19329487	CTD, Disgenet, Orphanet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
		UVSSA	Unknown	22466610 22466611 22466612	CTD, Disgenet, Orphanet	Nucleotide excision repair Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) +2 more
UV-SENSITIVE SYNDROME 1	600630 C3551173 MONDO:0010909	ERCC6	Causal	7063265	ClinVar, Disgenet, GenCC, HPO	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
UV-SENSITIVE SYNDROME 1	600630 C3551173 MONDO:0010909	PGBD3	Unknown	—	Disgenet	—
UV-SENSITIVE SYNDROME 2	614621 C3553298 MONDO:0013829	ERCC8	Causal	25655951	ClinVar, Disgenet, GenCC, HPO	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
UV-SENSITIVE SYNDROME 2	614621 C3553298 MONDO:0013829	NDUFAF2	Unknown	—	Disgenet	Thermogenesis Complex I biogenesis
UV-SENSITIVE SYNDROME 3	614640 C3553328 MONDO:0013834	UVSSA	Causal	22466610 31421932	ClinVar, Disgenet, GenCC, HPO	Nucleotide excision repair Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) +2 more