Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FANCONI ANEMIA	84 C0015625 MONDO:0019391 MESH:D005199	BRCA2	Causal	20301575	Disgenet, GWAS catalog, Orphanet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		BRIP1	Causal	16116423 16116424 16153896 18426915 20301575 20639400 24573678 26968956	CTD, Disgenet, GWAS catalog, Orphanet	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
		FANCA	Causal	20301575 22482891	CTD, Disgenet, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCB	Causal	20301575	CTD, Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCC	Causal	20301575 22482891	CTD, Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCD2	Causal	14667412 20301575	CTD, Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCE	Causal	20301575	CTD, Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCF	Causal	20301575	CTD, Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCG	Causal	10807541 11093276 20301575	CTD, Disgenet, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCI	Causal	20301575	Disgenet, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCL	Causal	12973351 19405097 20301575	CTD, Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Ubiquitin mediated proteolysis Fanconi Anemia Pathway
		FANCM	Causal	16116422 20301575	CTD, ClinGen, Disgenet, GenCC, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		PALB2	Causal	20301575	Disgenet, GWAS catalog, Orphanet	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		SLX4	Causal	20301575 21240275 21240276 21240277	CTD, Disgenet, GenCC, Orphanet	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP A	MONDO:0009215	FANCA	Causal	—	ClinGen, ClinVar, GenCC	Fanconi anemia pathway Fanconi Anemia Pathway
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 pathway Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP C	MONDO:0009213	FANCC	Causal	—	ClinGen, ClinVar, GenCC	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
FANCONI ANEMIA COMPLEMENTATION GROUP D1	MONDO:0011584	BRCA2	Causal	—	ClinGen, ClinVar, GenCC	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
FANCONI ANEMIA COMPLEMENTATION GROUP D2	MONDO:0009214	FANCD2	Causal	11239453	ClinGen, ClinVar, GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
FANCONI ANEMIA COMPLEMENTATION GROUP E	MONDO:0010953	FANCE	Causal	11001585 10205272 9382107	ClinGen, ClinVar, GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP F	MONDO:0011325	FANCF	Causal	9382107 10615118 26033879	ClinGen, ClinVar, GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP G	C3469527 MONDO:0013565	FANCG	Causal	10807541 12552564 15657175 9806548 11093276	ClinGen, ClinVar, Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP I	MONDO:0012186	FANCI	Causal	17452773 26590883	ClinGen, ClinVar, Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
FANCONI ANEMIA COMPLEMENTATION GROUP J	MONDO:0012187	BRIP1	Causal	16116424	ClinGen, ClinVar, GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
FANCONI ANEMIA COMPLEMENTATION GROUP L	MONDO:0013566	FANCL	Causal	25754594 12973351 34585473 31513304 28419882 19405097 36894310	ClinGen, ClinVar, Disgenet	Fanconi anemia pathway Ubiquitin mediated proteolysis Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP N	MONDO:0012565	PALB2	Causal	17200671 17200672	ClinGen, ClinVar, GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
FANCONI ANEMIA COMPLEMENTATION GROUP O	MONDO:0013248	RAD51C	Causal	20400963	ClinGen, ClinVar, GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +5 more
FANCONI ANEMIA COMPLEMENTATION GROUP P	MONDO:0013499	SLX4	Causal	21240275 21240277	ClinGen, ClinVar, GWAS catalog	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
FANCONI ANEMIA COMPLEMENTATION GROUP Q	MONDO:0014108	ERCC4	Causal	23623386 17183314 3372781 8797827 23623389	ClinVar	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
FANCONI ANEMIA COMPLEMENTATION GROUP R	MONDO:0014986	RAD51	Causal	26253028 26681308 30907510 36698515	ClinVar	Homologous recombination Fanconi anemia pathway Pathways in cancer +8 more
FANCONI ANEMIA COMPLEMENTATION GROUP T	MONDO:0014638	UBE2T	Causal	26046368	ClinVar, Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway Synthesis of active ubiquitin: roles of E1 and E2 enzymes
FANCONI ANEMIA COMPLEMENTATION GROUP V	MONDO:0014985	MAD2L2	Causal	—	ClinVar, GenCC	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation +4 more
FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883 C4554406 MONDO:0054748	BRCA1	Causal	23269703 25472942 29133208 29376519 29712865 31347298	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784 C4521564 MONDO:0044325	RFWD3	Causal	28691929	ClinVar, Disgenet, GWAS catalog, HPO	—

Fanconi anemia

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