Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FANCM FANCONI-LIKE GENOMIC INSTABILITY DISORDER	MONDO:0100578	FANCM	Unknown	19423727 19561169 28837157 28837162 34568721 34793962 37608704	ClinGen HPO
FANCONI ANEMIA	84 C0015625 MONDO:0019391 MESH:D005199	BRCA2	Causal	20301575	Disgenet GWAS catalog Orphanet
		BRIP1	Causal	16116423 16116424 16153896 18426915 20301575 20639400 24573678 26968956	CTD Disgenet GWAS catalog Orphanet
		FANCA	Causal	20301575 22482891	CTD Disgenet Orphanet
		FANCB	Causal	20301575	CTD Disgenet GWAS catalog Orphanet
		FANCC	Causal	20301575 22482891	CTD Disgenet GWAS catalog Orphanet
		FANCD2	Causal	14667412 20301575	CTD Disgenet GWAS catalog Orphanet
		FANCE	Causal	20301575	CTD Disgenet GWAS catalog Orphanet
		FANCF	Causal	20301575	CTD Disgenet GWAS catalog Orphanet
		FANCG	Causal	10807541 11093276 20301575	CTD Disgenet Orphanet
		FANCI	Causal	20301575	Disgenet Orphanet
		FANCL	Causal	12973351 19405097 20301575	CTD Disgenet GWAS catalog Orphanet
		FANCM	Causal	16116422 20301575	CTD ClinGen Disgenet GenCC Orphanet
		PALB2	Causal	20301575	Disgenet GWAS catalog Orphanet
		SLX4	Causal	20301575 21240275 21240276 21240277	CTD Disgenet GenCC Orphanet
		AOPEP	Unknown	—	Disgenet
		BRCA1	Unknown	29133208	Disgenet GWAS catalog Orphanet
		ERCC4	Unknown	23623386	Disgenet GWAS catalog Orphanet
		FAAP100	Unknown	40244696	Orphanet
		FANCD2OS	Unknown	—	Disgenet
		GSTM1	Unknown	—	Disgenet
		GSTT1	Unknown	—	Disgenet
		MAD2L2	Unknown	27500492	Disgenet HPO Orphanet
		MX1	Unknown	9389754	CTD Disgenet
		POLG	Unknown	—	Disgenet
		RAD51	Unknown	26681308	CTD Disgenet Orphanet
		RAD51C	Unknown	20301575 20400963	CTD Disgenet GWAS catalog Orphanet
		RFWD3	Unknown	28691929	Disgenet Orphanet
		SPIRE2	Unknown	—	Disgenet
		TNF	Unknown	22628295	CTD Disgenet
		UBE2T	Unknown	26046368	CTD Disgenet Orphanet
		VCP	Unknown	—	Disgenet
		VHL	Unknown	—	Disgenet
		VRK2	Unknown	—	Disgenet
		XRCC2	Unknown	22232082 27208205	Disgenet Orphanet
		ZNF276	Unknown	—	Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP A	MONDO:0009215	FANCA	Causal	—	ClinGen ClinVar GenCC
FANCONI ANEMIA COMPLEMENTATION GROUP B	MONDO:0010351	FANCB	Causal	15502827 16679491 21910217 22052692 23613520 24584348 25168418 26683739 29193904 29232005 32106311 30792206 36135330	ClinGen ClinVar Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP C	MONDO:0009213	FANCC	Causal	—	ClinGen ClinVar GenCC
FANCONI ANEMIA COMPLEMENTATION GROUP D1	MONDO:0011584	BRCA2	Causal	—	ClinGen ClinVar GenCC
FANCONI ANEMIA COMPLEMENTATION GROUP D2	MONDO:0009214	FANCD2	Causal	11239453	ClinGen ClinVar GWAS catalog
FANCONI ANEMIA COMPLEMENTATION GROUP E	MONDO:0010953	FANCE	Causal	11001585 10205272 9382107	ClinGen ClinVar GWAS catalog
FANCONI ANEMIA COMPLEMENTATION GROUP F	MONDO:0011325	FANCF	Causal	9382107 10615118 26033879	ClinGen ClinVar GWAS catalog
FANCONI ANEMIA COMPLEMENTATION GROUP G	C3469527 MONDO:0013565	FANCG	Causal	10807541 12552564 15657175 9806548 11093276	ClinGen ClinVar Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP G	C3469527 MONDO:0013565	VCP	Unknown	—	Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP I	MONDO:0012186	FANCI	Causal	17452773 26590883	ClinGen ClinVar Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP J	MONDO:0012187	BRIP1	Causal	16116424	ClinGen ClinVar GWAS catalog
FANCONI ANEMIA COMPLEMENTATION GROUP L	MONDO:0013566	FANCL	Causal	25754594 12973351 34585473 31513304 28419882 19405097 36894310	ClinGen ClinVar Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP M	C3469529	FANCM	Unknown	—	Disgenet
FANCONI ANEMIA COMPLEMENTATION GROUP N	MONDO:0012565	PALB2	Causal	17200671 17200672	ClinGen ClinVar GWAS catalog

Fanconi anemia