adisease

Showing entry for Fanconi Anemia

General Disease Information
BXGD Id	BXGD001006
Disease Name	Fanconi Anemia
Disease CUI Id	C0015625
MeSH Codes	C16 C18 C15
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:7
Disease Ontology Class Name	disease of anatomical entity
Disorder Network	disorder-protein-compound-food associations

The disease-related target proteins

Proteins

Uniport Id	BXGT Id	Protein Name	Gene	Status	Protein Class
Uniport Id	BXGT Id	Protein name	Gene	Status	Protein class
A8MT69	BXGT001713	Centromere protein X	201254	reviewed
O00255	BXGT003903	Menin	4221	reviewed
O00429	BXGT003919	Dynamin-1-like protein	10059	reviewed	Enzyme modulator
O14757	BXGT004092	Serine/threonine-protein kinase Chk1	1111	reviewed	Kinase
O14818	BXGT004103	Proteasome subunit alpha type-7	5688	reviewed
O14980	BXGT004119	Exportin-1	7514	reviewed	Receptor
O15297	BXGT004149	Protein phosphatase 1D	8493	reviewed	Enzyme
O15350	BXGT004154	Tumor protein p73	7161	reviewed	Transcription factor
O15439	BXGT004169	Multidrug resistance-associated protein 4	10257	reviewed	Transporter
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O43854	BXGT004630	EGF-like repeat and discoidin I-like domain-containing protein 3	10085	reviewed	Enzyme
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
O60674	BXGT004892	Tyrosine-protein kinase JAK2	3717	reviewed	Kinase
O60760	BXGT004899	Hematopoietic prostaglandin D synthase	27306	reviewed
O60931	BXGT004911	Cystinosin	1497	reviewed
O76064	BXGT005173	E3 ubiquitin-protein ligase RNF8	9025	reviewed
O94782	BXGT005332	Ubiquitin carboxyl-terminal hydrolase 1	7398	reviewed	Enzyme
O94907	BXGT005340	Dickkopf-related protein 1	22943	reviewed
O96017	BXGT005415	Serine/threonine-protein kinase Chk2	11200	reviewed	Kinase
P00352	BXGT005510	Retinal dehydrogenase 1	216	reviewed	Enzyme
P00374	BXGT005520	Dihydrofolate reductase	1719	reviewed	Enzyme
P00492	BXGT005556	Hypoxanthine-guanine phosphoribosyltransferase	3251	reviewed	Enzyme
P00519	BXGT005570	Tyrosine-protein kinase ABL1	25	reviewed	Kinase
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P01579	BXGT005770	Interferon gamma	3458	reviewed
P01584	BXGT005772	Interleukin-1 beta	3553	reviewed
P01911	BXGT005816	HLA class II histocompatibility antigen, DRB1-15 beta chain	3123	reviewed	Immune response
P02724	BXGT005934	Glycophorin-A	2993	reviewed
P02751	BXGT005943	Fibronectin	2335	reviewed	Signaling
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P04179	BXGT006163	Superoxide dismutase [Mn], mitochondrial	6648	reviewed	Enzyme
P04626	BXGT006238	Receptor tyrosine-protein kinase erbB-2	2064	reviewed	Kinase
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P05091	BXGT006312	Aldehyde dehydrogenase, mitochondrial	217	reviewed	Enzyme
P05108	BXGT006317	Cholesterol side-chain cleavage enzyme, mitochondrial	1583	reviewed
P05231	BXGT006345	Interleukin-6	3569	reviewed
P05362	BXGT006350	Intercellular adhesion molecule 1	3383	reviewed
P05556	BXGT006368	Integrin beta-1	3688	reviewed	Receptor
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P06493	BXGT006445	Cyclin-dependent kinase 1	983	reviewed	Kinase
P06730	BXGT006487	Eukaryotic translation initiation factor 4E	1977	reviewed	Nucleic acid binding
P06733	BXGT006490	Alpha-enolase	2023	reviewed	Enzyme
P06748	BXGT006497	Nucleophosmin	4869	reviewed	Chaperone
P06858	BXGT006515	Lipoprotein lipase	4023	reviewed	Enzyme
P07101	BXGT006547	Tyrosine 3-monooxygenase	7054	reviewed
P07202	BXGT006565	Thyroid peroxidase	7173	reviewed	Enzyme
P07858	BXGT006689	Cathepsin B	1508	reviewed	Enzyme
P07900	BXGT006696	Heat shock protein HSP 90-alpha	3320	reviewed	Chaperone
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P08476	BXGT006774	Inhibin beta A chain	3624	reviewed	Signaling
P08700	BXGT006816	Interleukin-3	3562	reviewed
P09211	BXGT006869	Glutathione S-transferase P	2950	reviewed
P09237	BXGT006874	Matrilysin	4316	reviewed	Enzyme
P09488	BXGT006899	Glutathione S-transferase Mu 1	2944	reviewed
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P09874	BXGT006934	Poly [ADP-ribose] polymerase 1	142	reviewed
P10147	BXGT007543	C-C motif chemokine 3	6348	reviewed	Signaling
P10275	BXGT007552	Androgen receptor	367	reviewed	Nuclear receptor
P10599	BXGT007583	Thioredoxin	7295	reviewed
P10721	BXGT007605	Mast/stem cell growth factor receptor Kit	3815	reviewed	Kinase
P11274	BXGT007681	Breakpoint cluster region protein	613	reviewed	Enzyme modulator
P11387	BXGT007696	DNA topoisomerase 1	7150	reviewed	Enzyme
P11509	BXGT007716	Cytochrome P450 2A6	1548	reviewed
P11766	BXGT007745	Alcohol dehydrogenase class-3	128	reviewed	Enzyme
P12004	BXGT007766	Proliferating cell nuclear antigen	5111	reviewed	Nucleic acid binding
P12830	BXGT007852	Cadherin-1	999	reviewed
P14635	BXGT008031	G2/mitotic-specific cyclin-B1	891	reviewed	Enzyme modulator
P14780	BXGT008053	Matrix metalloproteinase-9	4318	reviewed	Enzyme
P15311	BXGT008106	Ezrin	7430	reviewed	Cellular structure
P15531	BXGT008136	Nucleoside diphosphate kinase A	4830	reviewed	Kinase
P15559	BXGT008139	NAD(P)H dehydrogenase [quinone] 1	1728	reviewed
P16070	BXGT008186	CD44 antigen	960	reviewed
P16109	BXGT008194	P-selectin	6403	reviewed
P16455	BXGT008229	Methylated-DNA--protein-cysteine methyltransferase	4255	reviewed
P16930	BXGT008272	Fumarylacetoacetase	2184	reviewed
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P18146	BXGT008384	Early growth response protein 1	1958	reviewed	Nucleic acid binding
P18505	BXGT008409	Gamma-aminobutyric acid receptor subunit beta-1	2560	reviewed	Ion channel
P19320	BXGT008470	Vascular cell adhesion protein 1	7412	reviewed
P19525	BXGT008492	Interferon-induced, double-stranded RNA-activated protein kinase	5610	reviewed	Kinase
P19544	BXGT008494	Wilms tumor protein	7490	reviewed	Nucleic acid binding
P20591	BXGT008586	Interferon-induced GTP-binding protein Mx1	4599	reviewed	Enzyme modulator
P20813	BXGT008603	Cytochrome P450 2B6	1555	reviewed
P21579	BXGT008665	Synaptotagmin-1	6857	reviewed	Transporter
P21583	BXGT008667	Kit ligand	4254	reviewed
P22897	BXGT008816	Macrophage mannose receptor 1	4360	reviewed
P23528	BXGT008879	Cofilin-1	1072	reviewed
P24158	BXGT008951	Myeloblastin	5657	reviewed	Enzyme
P24666	BXGT008986	Low molecular weight phosphotyrosine protein phosphatase	52	reviewed
P24864	BXGT009000	G1/S-specific cyclin-E1	898	reviewed	Enzyme modulator
P26951	BXGT009147	Interleukin-3 receptor subunit alpha	3563	reviewed	Signaling
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P28907	BXGT009301	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	952	reviewed	Enzyme
P29323	BXGT009334	Ephrin type-B receptor 2	2048	reviewed	Kinase
P30041	BXGT009393	Peroxiredoxin-6	9588	reviewed	Enzyme
P30291	BXGT009417	Wee1-like protein kinase	7465	reviewed	Kinase
P30711	BXGT009460	Glutathione S-transferase theta-1	2952	reviewed
P33981	BXGT009744	Dual specificity protein kinase TTK	7272	reviewed	Kinase
P33991	BXGT009745	DNA replication licensing factor MCM4	4173	reviewed	Enzyme
P34932	BXGT009772	Heat shock 70 kDa protein 4	3308	reviewed
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35372	BXGT009823	Mu-type opioid receptor	4988	reviewed	G-protein coupled receptor
P35610	BXGT009855	Sterol O-acyltransferase 1	6646	reviewed	Enzyme
P35754	BXGT009863	Glutaredoxin-1	2745	reviewed
P36969	BXGT009949	Phospholipid hydroperoxide glutathione peroxidase	2879	reviewed	Enzyme
P37231	BXGT009972	Peroxisome proliferator-activated receptor gamma	5468	reviewed	Nuclear receptor
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P38936	BXGT010074	Cyclin-dependent kinase inhibitor 1	1026	reviewed
P39019	BXGT010082	40S ribosomal protein S19	6223	reviewed	Nucleic acid binding
P39748	BXGT010134	Flap endonuclease 1	2237	reviewed	Enzyme
P40692	BXGT010195	DNA mismatch repair protein Mlh1	4292	reviewed	Nucleic acid binding
P41182	BXGT010231	B-cell lymphoma 6 protein	604	reviewed
P41235	BXGT010241	Hepatocyte nuclear factor 4-alpha	3172	reviewed	Nuclear receptor
P42224	BXGT010286	Signal transducer and activator of transcription 1-alpha/beta	6772	reviewed	Nucleic acid binding
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42574	BXGT010317	Caspase-3	836	reviewed	Enzyme
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P43003	BXGT010347	Excitatory amino acid transporter 1	6507	reviewed	Transporter
P43246	BXGT010371	DNA mismatch repair protein Msh2	4436	reviewed	Nucleic acid binding
P43351	BXGT010380	DNA repair protein RAD52 homolog	5893	reviewed	Nucleic acid binding
P45983	BXGT010494	Mitogen-activated protein kinase 8	5599	reviewed	Kinase
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P46108	BXGT010509	Adapter molecule crk	1398	reviewed
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P49137	BXGT010680	MAP kinase-activated protein kinase 2	9261	reviewed	Kinase
P49768	BXGT010740	Presenilin-1	5663	reviewed	Enzyme
P49789	BXGT010742	Bis(5'-adenosyl)-triphosphatase	2272	reviewed
P49841	BXGT010750	Glycogen synthase kinase-3 beta	2932	reviewed	Kinase
P49959	BXGT010766	Double-strand break repair protein MRE11	4361	reviewed
P50591	BXGT010814	Tumor necrosis factor ligand superfamily member 10	8743	reviewed	Signaling
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
P51692	BXGT010885	Signal transducer and activator of transcription 5B	6777	reviewed	Nucleic acid binding
P51795	BXGT010891	H(+)/Cl(-) exchange transporter 5	1184	reviewed	Ion channel
P52701	BXGT010943	DNA mismatch repair protein Msh6	2956	reviewed	Nucleic acid binding
P54098	BXGT011030	DNA polymerase subunit gamma-1	5428	reviewed	Enzyme
P54132	BXGT011032	Bloom syndrome protein	641	reviewed
P54278	BXGT011038	Mismatch repair endonuclease PMS2	5395	reviewed	Nucleic acid binding
P54646	BXGT011062	5'-AMP-activated protein kinase catalytic subunit alpha-2	5563	reviewed	Kinase
P55769	BXGT011123	NHP2-like protein 1	4809	reviewed	Nucleic acid binding
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P60568	BXGT011315	Interleukin-2	3558	reviewed
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
P61073	BXGT011352	C-X-C chemokine receptor type 4	7852	reviewed	G-protein coupled receptor
P63000	BXGT011481	Ras-related C3 botulinum toxin substrate 1	5879	reviewed	Enzyme modulator
P63146	BXGT011504	Ubiquitin-conjugating enzyme E2 B	7320	reviewed
P63244	BXGT011510	Receptor of activated protein C kinase 1	10399	reviewed
P69892	BXGT011647	Hemoglobin subunit gamma-2	3048	reviewed
P78317	BXGT011831	E3 ubiquitin-protein ligase RNF4	6047	reviewed
P78330	BXGT011833	Phosphoserine phosphatase	5723	reviewed	Enzyme
P78527	BXGT011846	DNA-dependent protein kinase catalytic subunit	5591	reviewed	Kinase
P98164	BXGT012230	Low-density lipoprotein receptor-related protein 2	4036	reviewed
Q01082	BXGT012567	Spectrin beta chain, non-erythrocytic 1	6711	reviewed
Q01094	BXGT012568	Transcription factor E2F1	1869	reviewed	Nucleic acid binding
Q01196	BXGT012575	Runt-related transcription factor 1	861	reviewed	Transcription factor
Q01831	BXGT012621	DNA repair protein complementing XP-C cells	7508	reviewed	Nucleic acid binding
Q01968	BXGT012626	Inositol polyphosphate 5-phosphatase OCRL-1	4952	reviewed	Enzyme
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q04206	BXGT012754	Transcription factor p65	5970	reviewed	Transcription factor
Q06418	BXGT012875	Tyrosine-protein kinase receptor TYRO3	7301	reviewed	Kinase
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q07812	BXGT012940	Apoptosis regulator BAX	581	reviewed	Signaling
Q13153	BXGT013319	Serine/threonine-protein kinase PAK 1	5058	reviewed	Kinase
Q13155	BXGT013320	Aminoacyl tRNA synthase complex-interacting multifunctional protein 2	7965	reviewed
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q13363	BXGT013344	C-terminal-binding protein 1	1487	reviewed	Transcription factor
Q13426	BXGT013353	DNA repair protein XRCC4	7518	reviewed
Q13485	BXGT013363	Mothers against decapentaplegic homolog 4	4089	reviewed	Transcription factor
Q13526	BXGT013369	Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	5300	reviewed
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q14191	BXGT013452	Werner syndrome ATP-dependent helicase	7486	reviewed	Enzyme
Q14469	BXGT013473	Transcription factor HES-1	3280	reviewed	Transcription factor
Q14790	BXGT013505	Caspase-8	841	reviewed	Enzyme
Q15131	BXGT013545	Cyclin-dependent kinase 10	8558	reviewed	Kinase
Q15554	BXGT013577	Telomeric repeat-binding factor 2	7014	reviewed
Q15910	BXGT013612	Histone-lysine N-methyltransferase EZH2	2146	reviewed	Epigenetic regulator
Q16539	BXGT013634	Mitogen-activated protein kinase 14	1432	reviewed	Kinase
Q16595	BXGT013643	Frataxin, mitochondrial	2395	reviewed	Enzyme
Q16665	BXGT013653	Hypoxia-inducible factor 1-alpha	3091	reviewed	Transcription factor
Q16875	BXGT013686	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3	5209	reviewed	Kinase
Q6PCD5	BXGT016464	E3 ubiquitin-protein ligase RFWD3	55159	reviewed	Enzyme
Q6PJP8	BXGT016477	DNA cross-link repair 1A protein	9937	reviewed
Q86YC2	BXGT017633	Partner and localizer of BRCA2	79728	reviewed
Q8IYD8	BXGT018367	Fanconi anemia group M protein	57697	reviewed	Enzyme
Q8N1C3	BXGT018498	Gamma-aminobutyric acid receptor subunit gamma-1	2565	reviewed	Ion channel
Q8TAF3	BXGT018786	WD repeat-containing protein 48	57599	reviewed
Q92793	BXGT019374	CREB-binding protein	1387	reviewed
Q92887	BXGT019389	Canalicular multispecific organic anion transporter 1	1244	reviewed	Transporter
Q92993	BXGT019403	Histone acetyltransferase KAT5	10524	reviewed
Q96FI4	BXGT019658	Endonuclease 8-like 1	79661	reviewed
Q96QE3	BXGT019718	ATPase family AAA domain-containing protein 5	79915	reviewed
Q96RL1	BXGT019730	BRCA1-A complex subunit RAP80	51720	reviewed
Q96T88	BXGT019747	E3 ubiquitin-protein ligase UHRF1	29128	reviewed
Q9BTP7	BXGT020126	Fanconi anemia core complex-associated protein 24	91442	reviewed
Q9BYT8	BXGT020190	Neurolysin, mitochondrial	57486	reviewed	Enzyme
Q9H4A3	BXGT020473	Serine/threonine-protein kinase WNK1	65125	reviewed	Kinase
Q9H816	BXGT020494	5' exonuclease Apollo	64858	reviewed
Q9HCU9	BXGT020539	Breast cancer metastasis-suppressor 1	25855	reviewed
Q9HD42	BXGT020543	Charged multivesicular body protein 1a	5119	reviewed
Q9NPD8	BXGT021152	Ubiquitin-conjugating enzyme E2 T	29089	reviewed
Q9NPI8	BXGT021161	Fanconi anemia group F protein	2188	reviewed
Q9NR97	BXGT021182	Toll-like receptor 8	51311	reviewed
Q9NW38	BXGT021230	E3 ubiquitin-protein ligase FANCL	55120	reviewed	Enzyme
Q9NYK1	BXGT021258	Toll-like receptor 7	51284	reviewed
Q9NYY3	BXGT021264	Serine/threonine-protein kinase PLK2	10769	reviewed	Kinase
Q9UBB5	BXGT021649	Methyl-CpG-binding domain protein 2	8932	reviewed	Epigenetic regulator
Q9UBZ9	BXGT021666	DNA repair protein REV1	51455	reviewed
Q9UER7	BXGT021672	Death domain-associated protein 6	1616	reviewed
Q9UI95	BXGT021714	Mitotic spindle assembly checkpoint protein MAD2B	10459	reviewed
Q9UKV0	BXGT021750	Histone deacetylase 9	9734	reviewed	Epigenetic regulator
Q9UNW8	BXGT021793	Probable G-protein coupled receptor 132	29933	reviewed	G-protein coupled receptor
Q9UQ84	BXGT021807	Exonuclease 1	9156	reviewed	Enzyme
Q9Y230	BXGT022208	RuvB-like 2	10856	reviewed
Q9Y2M0	BXGT022241	Fanconi-associated nuclease 1	22909	reviewed
Q9Y2Q3	BXGT022242	Glutathione S-transferase kappa 1	373156	reviewed
Q92878	BXGT023071	DNA repair protein RAD50	10111	reviewed
P51784	BXGT023311	Ubiquitin carboxyl-terminal hydrolase 11	8237	reviewed	Enzyme
Q8IYW5	BXGT023493	E3 ubiquitin-protein ligase RNF168	165918	reviewed
P20138	BXGT023857	Myeloid cell surface antigen CD33	945	reviewed	Receptor
Q9BQQ3	BXGT024065	Golgi reassembly-stacking protein 1	64689	reviewed
P16104	BXGT024571	Histone H2AX	3014	reviewed	Nucleic acid binding
Q12888	BXGT024878	TP53-binding protein 1	7158	reviewed	Epigenetic regulator
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
Q92729	BXGT025605	Receptor-type tyrosine-protein phosphatase U	10076	reviewed	Enzyme
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed
Q14566	BXGT025969	DNA replication licensing factor MCM6	4175	reviewed	Enzyme

The disease-related compounds

Compounds

BXGC Id	Compound Name	Structure	Molecular Weight	Number of targets^{?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease}

The disease-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compounds in food^{?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease}