Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	ERCC2	Causal	—	Disgenet, Orphanet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	ERCC3	Causal	—	CTD, Disgenet, Orphanet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	ERCC4	Causal	20301571	Disgenet, GWAS catalog, Orphanet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	ERCC5	Causal	—	CTD, Disgenet, Orphanet	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	POLH	Causal	20301571	CTD, Disgenet	Platinum drug resistance Fanconi anemia pathway Translesion Synthesis by POLH +2 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	XPA	Causal	20301571	CTD, Disgenet, Orphanet	Platinum drug resistance Nucleotide excision repair Formation of Incision Complex in GG-NER +3 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	XPC	Causal	—	CTD, Disgenet, GWAS catalog, Orphanet	Nucleotide excision repair SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER +1 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	BIVM-ERCC5	Unknown	—	Disgenet	Nucleotide excision repair
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	DDB2	Unknown	—	Disgenet, GWAS catalog, Orphanet	Nucleotide excision repair p53 signaling pathway Ubiquitin mediated proteolysis +23 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	ERCC1	Unknown	40684071	ClinVar	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway +5 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	KLC3	Unknown	20301571	Disgenet	Motor proteins Alzheimer disease Parkinson disease +9 more
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	TMEM43	Unknown	20301571	Disgenet	Cytoskeleton in muscle cells
XERODERMA PIGMENTOSUM GROUP A	MONDO:0010210	XPA	Causal	—	ClinGen, ClinVar, GenCC	Platinum drug resistance Nucleotide excision repair Formation of Incision Complex in GG-NER +3 more
XERODERMA PIGMENTOSUM GROUP B	MONDO:0012531	ERCC3	Causal	—	ClinGen, ClinVar, GWAS catalog	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM GROUP C	MONDO:0010211	XPC	Unknown	—	ClinGen, GenCC	Nucleotide excision repair SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER +1 more
XERODERMA PIGMENTOSUM GROUP D	MONDO:0010212	ERCC2	Unknown	—	ClinGen, GenCC	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM GROUP E	MONDO:0010213	DDB2	Unknown	—	ClinGen, GWAS catalog	Nucleotide excision repair p53 signaling pathway Ubiquitin mediated proteolysis +23 more
XERODERMA PIGMENTOSUM GROUP F	MONDO:0010215	ERCC4	Unknown	16947863 8408834 4811796	ClinGen, Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
XERODERMA PIGMENTOSUM GROUP G	MONDO:0010216	ERCC5	Unknown	—	CTD, ClinGen	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
XERODERMA PIGMENTOSUM VARIANT	90342	POLH	Unknown	—	Orphanet	Platinum drug resistance Fanconi anemia pathway Translesion Synthesis by POLH +2 more
XERODERMA PIGMENTOSUM VARIANT TYPE	MONDO:0010214	POLH	Causal	8798680 10469312 12812979	ClinGen, ClinVar, Disgenet	Platinum drug resistance Fanconi anemia pathway Translesion Synthesis by POLH +2 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	278700	XPA	Unknown	8797827	HPO	Platinum drug resistance Nucleotide excision repair Formation of Incision Complex in GG-NER +3 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B	610651 MESH:C562590	ERCC3	Unknown	9096355 7951246 12060391 23255472 11841555 11228268 8818951 11219864 698096	CTD, HPO	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	C2752147 278720 MESH:C567886	ERCC2	Unknown	24130121	Disgenet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	C2752147 278720 MESH:C567886	XPC	Unknown	10385124 10398605	CTD, Disgenet, HPO	Nucleotide excision repair SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER +1 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	278730 C0268138 MESH:C562591	ERCC2	Unknown	—	CTD, Disgenet, HPO	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	278730 C0268138 MESH:C562591	KLC3	Unknown	—	Disgenet	Motor proteins Alzheimer disease Parkinson disease +9 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	278740 C1848411 MESH:C564732	DDB2	Unknown	—	CTD, Disgenet, HPO	Nucleotide excision repair p53 signaling pathway Ubiquitin mediated proteolysis +23 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F	278760 MESH:C562592	ERCC4	Unknown	—	CTD, HPO	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	278780 MESH:C562593	ERCC5	Unknown	—	CTD, HPO	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
XERODERMA PIGMENTOSUM, GROUP A	C0268135	XPA	Unknown	10767341 1339397 1372102 16098033 2234061	Disgenet	Platinum drug resistance Nucleotide excision repair Formation of Incision Complex in GG-NER +3 more
XERODERMA PIGMENTOSUM, GROUP A	C0268135	XPC	Unknown	24753253	Disgenet	Nucleotide excision repair SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER +1 more
XERODERMA PIGMENTOSUM, GROUP B	C0268136	ERCC3	Unknown	—	Disgenet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM, GROUP C		XPC	Causal	11121128 11511294 14662655 19478817 8298653 9804340	ClinVar	Nucleotide excision repair SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER +1 more
XERODERMA PIGMENTOSUM, GROUP D		ERCC2	Causal	—	ClinVar	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
XERODERMA PIGMENTOSUM, GROUP E		DDB2	Causal	—	ClinVar	Nucleotide excision repair p53 signaling pathway Ubiquitin mediated proteolysis +23 more
XERODERMA PIGMENTOSUM, GROUP F	C0268140	ERCC4	Causal	—	ClinVar, Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
XERODERMA PIGMENTOSUM, GROUP G	C0268141	ERCC5	Causal	—	ClinVar, Disgenet	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
XERODERMA PIGMENTOSUM, GROUP G	C0268141	BIVM-ERCC5	Unknown	—	Disgenet	Nucleotide excision repair
XERODERMA PIGMENTOSUM, VARIANT TYPE	278750 C1848410 MESH:C536766	POLH	Unknown	—	CTD, Disgenet, HPO	Platinum drug resistance Fanconi anemia pathway Translesion Synthesis by POLH +2 more

Xeroderma pigmentosum

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