Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FANCM FANCONI-LIKE GENOMIC INSTABILITY DISORDER	MONDO:0100578	FANCM	Unknown	19423727 19561169 28837157 28837162 34568721 34793962 37608704	ClinGen, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
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
		AOPEP	Unknown	—	Disgenet	Metabolism of Angiotensinogen to Angiotensins
		BRCA1	Unknown	29133208	Disgenet, GWAS catalog, Orphanet	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		ERCC4	Unknown	23623386	Disgenet, GWAS catalog, Orphanet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		FAAP100	Unknown	40244696	Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCD2OS	Unknown	—	Disgenet	—
		GSTM1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		GSTT1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		MAD2L2	Unknown	27500492	Disgenet, HPO, Orphanet	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation +4 more
		MX1	Unknown	9389754	CTD, Disgenet	Viral life cycle - HIV-1 Hepatitis C Measles +5 more
		POLG	Unknown	—	Disgenet	Base excision repair
		RAD51	Unknown	26681308	CTD, Disgenet, Orphanet	Homologous recombination Fanconi anemia pathway Pathways in cancer +8 more
		RAD51C	Unknown	20301575 20400963	CTD, Disgenet, GWAS catalog, Orphanet	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +5 more
		RFWD3	Unknown	28691929	Disgenet, Orphanet	—
		SPIRE2	Unknown	—	Disgenet	—
		TNF	Unknown	22628295	CTD, Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
		UBE2T	Unknown	26046368	CTD, Disgenet, Orphanet	Fanconi anemia pathway Fanconi Anemia Pathway Synthesis of active ubiquitin: roles of E1 and E2 enzymes
		VCP	Unknown	—	Disgenet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
		VHL	Unknown	—	Disgenet	HIF-1 signaling pathway Ubiquitin mediated proteolysis Pathways in cancer +5 more
		VRK2	Unknown	—	Disgenet	Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation
		XRCC2	Unknown	22232082 27208205	Disgenet, Orphanet	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +3 more
		ZNF276	Unknown	—	Disgenet	—
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 G	C3469527 MONDO:0013565	VCP	Unknown	—	Disgenet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
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 M	C3469529	FANCM	Unknown	—	Disgenet	Fanconi anemia pathway 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 U	MONDO:0014987	XRCC2	Unknown	—	ClinGen, ClinVar, GenCC	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +3 more
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 A	C3469521 227650	AOPEP	Unknown	—	Disgenet	Metabolism of Angiotensinogen to Angiotensins
		BRCA1	Unknown	—	Disgenet	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		FANCA	Unknown	10090479 10431244 10862090 11091222 11344308 12447395 12827451 12955722 15162062 15522956 15523645 15643609 15917947 16532972 21519011 23898106 24689079 24704046 26799702 27121516 29098742 29269525 29400309 29702541 30032139 8896564	Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCC	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCD2	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCD2OS	Unknown	—	Disgenet	—
		FANCG	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCI	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCL	Unknown	—	Disgenet	Fanconi anemia pathway Ubiquitin mediated proteolysis Fanconi Anemia Pathway
		FANCM	Unknown	28376765 19686080	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway
		SLX4	Unknown	—	Disgenet	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
		ZNF276	Unknown	—	Disgenet	—
		ZNF469	Unknown	—	Disgenet	—
FANCONI ANEMIA, COMPLEMENTATION GROUP B	300514 C1845292 MESH:C564497	FANCB	Unknown	15502827 16679491 21910217 22052692 23613520 24584348 25168418 26683739 29193904 29232005 30792206 32106311 36135330	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA, COMPLEMENTATION GROUP C	C3468041 227645 OMIM:227645	AOPEP	Unknown	—	Disgenet	Metabolism of Angiotensinogen to Angiotensins
		DCLRE1B	Unknown	—	Disgenet	Fanconi Anemia Pathway
		FANCC	Unknown	—	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
FANCONI ANEMIA, COMPLEMENTATION GROUP D1	605724 C1838457 MESH:C563980	BRCA2	Unknown	12065746 14670928 15070707	CTD, Disgenet, HPO	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	C3160738 227646 OMIM:227646	BRIP1	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
		FANCD2	Unknown	11239453	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FANCD2OS	Unknown	—	Disgenet	—
		VHL	Unknown	—	Disgenet	HIF-1 signaling pathway Ubiquitin mediated proteolysis Pathways in cancer +5 more
FANCONI ANEMIA, COMPLEMENTATION GROUP E	600901 C3160739 OMIM:600901	FANCE	Unknown	10205272 11001585 9382107	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA, COMPLEMENTATION GROUP F	603467 C3469526 OMIM:603467	FANCF	Unknown	10615118 26033879 9382107	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA, COMPLEMENTATION GROUP G	614082 OMIM:614082	FANCG	Unknown	10807541 11093276 12552564 15657175 9806548	CTD, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
FANCONI ANEMIA, COMPLEMENTATION GROUP I	609053 C1836861 MESH:C563802	FANCI	Unknown	17452773 26590883	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
FANCONI ANEMIA, COMPLEMENTATION GROUP I	609053 C1836861 MESH:C563802	POLG	Unknown	—	Disgenet	Base excision repair
FANCONI ANEMIA, COMPLEMENTATION GROUP J	609054 C1836860 MESH:C563801	BRIP1	Unknown	16116424	CTD, Disgenet, HPO	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
FANCONI ANEMIA, COMPLEMENTATION GROUP L	614083 C3469528 OMIM:614083	FANCL	Unknown	12973351 19405097 25754594 28419882 31513304 34585473 36894310	CTD, Disgenet, HPO	Fanconi anemia pathway Ubiquitin mediated proteolysis Fanconi Anemia Pathway
FANCONI ANEMIA, COMPLEMENTATION GROUP L	614083 C3469528 OMIM:614083	VRK2	Unknown	—	Disgenet	Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation
FANCONI ANEMIA, COMPLEMENTATION GROUP N	C1835817 610832 MESH:C563657	DCTN5	Unknown	—	Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +7 more
FANCONI ANEMIA, COMPLEMENTATION GROUP N	C1835817 610832 MESH:C563657	PALB2	Unknown	17200671 17200672	CTD, Disgenet, HPO	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
FANCONI ANEMIA, COMPLEMENTATION GROUP O	613390 C3150653 OMIM:613390	RAD51C	Unknown	20400963	CTD, Disgenet, HPO	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +5 more
FANCONI ANEMIA, COMPLEMENTATION GROUP P	613951 C3469542 OMIM:613951	SLX4	Unknown	21240275 21240277	CTD, Disgenet, HPO	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	615272 C3808988 OMIM:615272	ERCC4	Unknown	17183314 23623386 23623389 3372781 8797827	CTD, Disgenet, HPO	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
FANCONI ANEMIA, COMPLEMENTATION GROUP R	617244 C4284093 OMIM:617244	RAD51	Unknown	—	CTD, Disgenet, HPO	Homologous recombination Fanconi anemia pathway Pathways in cancer +8 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 T	C4084840 616435 OMIM:616435	HIRA	Unknown	—	Disgenet	Formation of Senescence-Associated Heterochromatin Foci (SAHF)
FANCONI ANEMIA, COMPLEMENTATION GROUP T	C4084840 616435 OMIM:616435	UBE2T	Unknown	26046368	CTD, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway Synthesis of active ubiquitin: roles of E1 and E2 enzymes
FANCONI ANEMIA, COMPLEMENTATION GROUP U	617247 C4310651 OMIM:617247	XRCC2	Unknown	28297620	CTD, Disgenet, HPO	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +3 more
FANCONI ANEMIA, COMPLEMENTATION GROUP V	617243 C4310652 OMIM:617243	MAD2L2	Unknown	28297620	CTD, Disgenet, HPO	Cell cycle Oocyte meiosis Progesterone-mediated oocyte maturation +4 more
FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784 C4521564 MONDO:0044325	RFWD3	Causal	28691929	ClinVar, Disgenet, GWAS catalog, HPO	—
FANCONI ANEMIA, COMPLEMENTATION GROUP X	621258	FAAP100	Unknown	40244696 40232843	ClinVar	Fanconi anemia pathway Fanconi Anemia Pathway

Fanconi anemia

Bookmark This Disease