adisease

Showing entry for Bloom Syndrome

General Disease Information
BXGD Id	BXGD000342
Disease Name	Bloom Syndrome
Disease CUI Id	C0005859
MeSH Codes	C16 C18 C20
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630
Disease Ontology Class Name	genetic disease
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
O00767	BXGT003949	Acyl-CoA desaturase	6319	reviewed
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
O75369	BXGT005119	Filamin-B	2317	reviewed
O76054	BXGT005172	SEC14-like protein 2	23541	reviewed
O96017	BXGT005415	Serine/threonine-protein kinase Chk2	11200	reviewed	Kinase
P00441	BXGT005540	Superoxide dismutase [Cu-Zn]	6647	reviewed	Enzyme
P00750	BXGT005642	Tissue-type plasminogen activator	5327	reviewed	Enzyme
P01009	BXGT005714	Alpha-1-antitrypsin	5265	reviewed	Enzyme modulator
P01106	BXGT005730	Myc proto-oncogene protein	4609	reviewed	Transcription factor
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P02724	BXGT005934	Glycophorin-A	2993	reviewed
P02751	BXGT005943	Fibronectin	2335	reviewed	Signaling
P03372	BXGT006059	Estrogen receptor	2099	reviewed	Nuclear receptor
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P04179	BXGT006163	Superoxide dismutase [Mn], mitochondrial	6648	reviewed	Enzyme
P04180	BXGT006164	Phosphatidylcholine-sterol acyltransferase	3931	reviewed	Enzyme
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P04792	BXGT006264	Heat shock protein beta-1	3315	reviewed
P04839	BXGT006273	Cytochrome b-245 heavy chain	1536	reviewed	Ion channel
P05106	BXGT006315	Integrin beta-3	3690	reviewed	Receptor
P05121	BXGT006320	Plasminogen activator inhibitor 1	5054	reviewed	Enzyme modulator
P05164	BXGT006333	Myeloperoxidase	4353	reviewed	Enzyme
P05187	BXGT006339	Alkaline phosphatase, placental type	250	reviewed	Enzyme
P05231	BXGT006345	Interleukin-6	3569	reviewed
P06730	BXGT006487	Eukaryotic translation initiation factor 4E	1977	reviewed	Nucleic acid binding
P07332	BXGT006601	Tyrosine-protein kinase Fes/Fps	2242	reviewed	Kinase
P07359	BXGT006612	Platelet glycoprotein Ib alpha chain	2811	reviewed	Receptor
P07741	BXGT006666	Adenine phosphoribosyltransferase	353	reviewed
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P08514	BXGT006781	Integrin alpha-IIb	3674	reviewed
P08575	BXGT006793	Receptor-type tyrosine-protein phosphatase C	5788	reviewed	Enzyme
P09038	BXGT006851	Fibroblast growth factor 2	2247	reviewed	Signaling
P10599	BXGT007583	Thioredoxin	7295	reviewed
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P13051	BXGT007877	Uracil-DNA glycosylase	7374	reviewed
P13500	BXGT007916	C-C motif chemokine 2	6347	reviewed	Signaling
P13645	BXGT007936	Keratin, type I cytoskeletal 10	3858	reviewed
P14598	BXGT008024	Neutrophil cytosol factor 1	653361	reviewed
P14618	BXGT008027	Pyruvate kinase PKM	5315	reviewed	Kinase
P16109	BXGT008194	P-selectin	6403	reviewed
P22681	BXGT008795	E3 ubiquitin-protein ligase CBL	867	reviewed	Enzyme
P25101	BXGT009018	Endothelin-1 receptor	1909	reviewed	G-protein coupled receptor
P29508	BXGT009358	Serpin B3	6317	reviewed	Enzyme modulator
P32320	BXGT009622	Cytidine deaminase	978	reviewed	Enzyme
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P38936	BXGT010074	Cyclin-dependent kinase inhibitor 1	1026	reviewed
P39748	BXGT010134	Flap endonuclease 1	2237	reviewed	Enzyme
P40692	BXGT010195	DNA mismatch repair protein Mlh1	4292	reviewed	Nucleic acid binding
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42574	BXGT010317	Caspase-3	836	reviewed	Enzyme
P43246	BXGT010371	DNA mismatch repair protein Msh2	4436	reviewed	Nucleic acid binding
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P54132	BXGT011032	Bloom syndrome protein	641	reviewed
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P63279	BXGT011514	SUMO-conjugating enzyme UBC9	7329	reviewed
P84022	BXGT012027	Mothers against decapentaplegic homolog 3	4088	reviewed	Transcription factor
P99999	BXGT012235	Cytochrome c	54205	reviewed
Q00987	BXGT012559	E3 ubiquitin-protein ligase Mdm2	4193	reviewed	Nucleic acid binding
Q02880	BXGT012677	DNA topoisomerase 2-beta	7155	reviewed
Q03405	BXGT012713	Urokinase plasminogen activator surface receptor	5329	reviewed
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q13304	BXGT013337	Uracil nucleotide/cysteinyl leukotriene receptor	2840	reviewed	G-protein coupled receptor
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q13472	BXGT013360	DNA topoisomerase 3-alpha	7156	reviewed	Enzyme
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q14191	BXGT013452	Werner syndrome ATP-dependent helicase	7486	reviewed	Enzyme
Q14524	BXGT013478	Sodium channel protein type 5 subunit alpha	6331	reviewed	Ion channel
Q14565	BXGT013484	Meiotic recombination protein DMC1/LIM15 homolog	11144	reviewed
Q16236	BXGT013624	Nuclear factor erythroid 2-related factor 2	4780	reviewed	Enzyme
Q16595	BXGT013643	Frataxin, mitochondrial	2395	reviewed	Enzyme
Q16637	BXGT013646	Survival motor neuron protein	6607	reviewed	Epigenetic regulator
Q16665	BXGT013653	Hypoxia-inducible factor 1-alpha	3091	reviewed	Transcription factor
Q7L266	BXGT016993	Isoaspartyl peptidase/L-asparaginase	80150	reviewed	Enzyme
Q8IYD8	BXGT018367	Fanconi anemia group M protein	57697	reviewed	Enzyme
Q8NEM0	BXGT018555	Microcephalin	79648	reviewed	Nucleic acid binding
Q92499	BXGT019350	ATP-dependent RNA helicase DDX1	1653	reviewed
Q92547	BXGT019355	DNA topoisomerase 2-binding protein 1	11073	reviewed
Q92698	BXGT019362	DNA repair and recombination protein RAD54-like	8438	reviewed
Q96EB6	BXGT019646	NAD-dependent protein deacetylase sirtuin-1	23411	reviewed	Epigenetic regulator
Q96NY9	BXGT019703	Crossover junction endonuclease MUS81	80198	reviewed
Q9H0A0	BXGT020434	RNA cytidine acetyltransferase	55226	reviewed
Q9NPH5	BXGT021159	NADPH oxidase 4	50507	reviewed	Enzyme
Q9NPI8	BXGT021161	Fanconi anemia group F protein	2188	reviewed
Q9NRW3	BXGT021195	DNA dC->dU-editing enzyme APOBEC-3C	27350	reviewed	Enzyme
Q9UQ84	BXGT021807	Exonuclease 1	9156	reviewed	Enzyme
P04439	BXGT022649	HLA class I histocompatibility antigen, A-3 alpha chain	3105	reviewed
Q16552	BXGT023419	Interleukin-17A	3605	reviewed
P29590	BXGT024350	Protein PML	5371	reviewed
P16104	BXGT024571	Histone H2AX	3014	reviewed	Nucleic acid binding
Q12888	BXGT024878	TP53-binding protein 1	7158	reviewed	Epigenetic regulator
P18858	BXGT025156	DNA ligase 1	3978	reviewed	Enzyme
P07320	BXGT026150	Gamma-crystallin D	1421	reviewed

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}