Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
XERODERMA PIGMENTOSUM	910 C0043346 MONDO:0019600 MESH:D014983	ERCC2	Causal	—	Disgenet Orphanet
		ERCC3	Causal	—	CTD Disgenet Orphanet
		ERCC4	Causal	20301571	Disgenet GWAS catalog Orphanet
		ERCC5	Causal	—	CTD Disgenet Orphanet
		POLH	Causal	20301571	CTD Disgenet
		XPA	Causal	20301571	CTD Disgenet Orphanet
		XPC	Causal	—	CTD Disgenet GWAS catalog Orphanet
		BIVM-ERCC5	Unknown	—	Disgenet
		DDB2	Unknown	—	Disgenet GWAS catalog Orphanet
		ERCC1	Unknown	—	ClinVar
		KLC3	Unknown	20301571	Disgenet
		TMEM43	Unknown	20301571	Disgenet
XERODERMA PIGMENTOSUM GROUP A	MONDO:0010210	XPA	Causal	—	ClinGen ClinVar GenCC
XERODERMA PIGMENTOSUM GROUP B	MONDO:0012531	ERCC3	Causal	—	ClinGen ClinVar GWAS catalog
XERODERMA PIGMENTOSUM GROUP C	MONDO:0010211	XPC	Unknown	—	ClinGen GenCC
XERODERMA PIGMENTOSUM GROUP D	MONDO:0010212	ERCC2	Unknown	—	ClinGen GenCC
XERODERMA PIGMENTOSUM GROUP E	MONDO:0010213	DDB2	Unknown	—	ClinGen GWAS catalog
XERODERMA PIGMENTOSUM GROUP F	MONDO:0010215	ERCC4	Unknown	16947863 8408834 4811796	ClinGen Disgenet
XERODERMA PIGMENTOSUM GROUP G	MONDO:0010216	ERCC5	Unknown	—	CTD ClinGen
XERODERMA PIGMENTOSUM VARIANT	90342	POLH	Unknown	—	Orphanet
XERODERMA PIGMENTOSUM VARIANT TYPE	MONDO:0010214	POLH	Causal	8798680 10469312 12812979	ClinGen ClinVar Disgenet
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	278700	XPA	Unknown	8797827	HPO
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B	610651 MESH:C562590	ERCC3	Unknown	9096355 7951246 12060391 23255472 11841555 11228268 8818951 11219864 698096	CTD HPO
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	C2752147 278720 MESH:C567886	ERCC2	Unknown	24130121	Disgenet
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	C2752147 278720 MESH:C567886	XPC	Unknown	10385124 10398605	CTD Disgenet HPO
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	278730 C0268138 MESH:C562591	ERCC2	Unknown	—	CTD Disgenet HPO
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	278730 C0268138 MESH:C562591	KLC3	Unknown	—	Disgenet
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	278740 C1848411 MESH:C564732	DDB2	Unknown	—	CTD Disgenet HPO
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F	278760 MESH:C562592	ERCC4	Unknown	—	CTD HPO
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	278780 MESH:C562593	ERCC5	Unknown	—	CTD HPO
XERODERMA PIGMENTOSUM, GROUP A	C0268135	XPA	Unknown	—	Disgenet
XERODERMA PIGMENTOSUM, GROUP A	C0268135	XPC	Unknown	24753253	Disgenet
XERODERMA PIGMENTOSUM, GROUP B	C0268136	ERCC3	Unknown	—	Disgenet
XERODERMA PIGMENTOSUM, GROUP C		XPC	Causal	—	ClinVar
XERODERMA PIGMENTOSUM, GROUP D		ERCC2	Causal	—	ClinVar
XERODERMA PIGMENTOSUM, GROUP E		DDB2	Causal	—	ClinVar
XERODERMA PIGMENTOSUM, GROUP F	C0268140	ERCC4	Causal	—	ClinVar Disgenet
XERODERMA PIGMENTOSUM, GROUP G	C0268141	ERCC5	Causal	—	ClinVar Disgenet
XERODERMA PIGMENTOSUM, GROUP G	C0268141	BIVM-ERCC5	Unknown	—	Disgenet
XERODERMA PIGMENTOSUM, VARIANT TYPE	278750 C1848410 MESH:C536766	POLH	Unknown	—	CTD Disgenet HPO

Xeroderma pigmentosum