adisease

Showing entry for Deformity

General Disease Information
BXGD Id	BXGD006831
Disease Name	Deformity
Disease CUI Id	C0302142
MeSH Codes	C23 C16
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Semantic Type	Anatomical Abnormality
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id
Disease Ontology Class Name
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
F7VJQ1	BXGT003310	Alternative prion protein	5621	reviewed
O00139	BXGT003881	Kinesin-like protein KIF2A	3796	reviewed	Cellular structure
O00238	BXGT003900	Bone morphogenetic protein receptor type-1B	658	reviewed	Kinase
O00329	BXGT003909	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	5293	reviewed	Kinase
O00522	BXGT003935	Krev interaction trapped protein 1	889	reviewed
O00755	BXGT003945	Protein Wnt-7a	7476	reviewed	Signaling
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O15111	BXGT004126	Inhibitor of nuclear factor kappa-B kinase subunit alpha	1147	reviewed	Kinase
O15123	BXGT004130	Angiopoietin-2	285	reviewed	Signaling
O43854	BXGT004630	EGF-like repeat and discoidin I-like domain-containing protein 3	10085	reviewed	Enzyme
O75365	BXGT005115	Protein tyrosine phosphatase type IVA 3	11156	reviewed
O75530	BXGT005135	Polycomb protein EED	8726	reviewed
O95631	BXGT005387	Netrin-1	9423	reviewed	Enzyme modulator
P00533	BXGT005575	Epidermal growth factor receptor	1956	reviewed	Kinase
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P01236	BXGT005744	Prolactin	5617	reviewed	Signaling
P02461	BXGT005880	Collagen alpha-1(III) chain	1281	reviewed
P02533	BXGT005887	Keratin, type I cytoskeletal 14	3861	reviewed
P04156	BXGT006156	Major prion protein	5621	reviewed
P04179	BXGT006163	Superoxide dismutase [Mn], mitochondrial	6648	reviewed	Enzyme
P05120	BXGT006319	Plasminogen activator inhibitor 2	5055	reviewed	Enzyme modulator
P05187	BXGT006339	Alkaline phosphatase, placental type	250	reviewed	Enzyme
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P06401	BXGT006436	Progesterone receptor	5241	reviewed	Nuclear receptor
P06731	BXGT006488	Carcinoembryonic antigen-related cell adhesion molecule 5	1048	reviewed
P07204	BXGT006567	Thrombomodulin	7056	reviewed
P08069	BXGT006723	Insulin-like growth factor 1 receptor	3480	reviewed	Kinase
P08183	BXGT006741	ATP-dependent translocase ABCB1	5243	reviewed	Transporter
P08922	BXGT006843	Proto-oncogene tyrosine-protein kinase ROS	6098	reviewed	Kinase
P09211	BXGT006869	Glutathione S-transferase P	2950	reviewed
P0DN79	BXGT007511	Cystathionine beta-synthase-like protein	875	reviewed
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P10599	BXGT007583	Thioredoxin	7295	reviewed
P10826	BXGT007622	Retinoic acid receptor beta	5915	reviewed	Nuclear receptor
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P11586	BXGT007723	C-1-tetrahydrofolate synthase, cytoplasmic	4522	reviewed	Enzyme
P12643	BXGT007830	Bone morphogenetic protein 2	650	reviewed	Signaling
P13569	BXGT007923	Cystic fibrosis transmembrane conductance regulator	1080	reviewed	Ion channel
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15104	BXGT008081	Glutamine synthetase	2752	reviewed	Enzyme
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P16220	BXGT008206	Cyclic AMP-responsive element-binding protein 1	1385	reviewed
P17066	BXGT008279	Heat shock 70 kDa protein 6	3310	reviewed
P18440	BXGT008404	Arylamine N-acetyltransferase 1	9	reviewed	Enzyme
P18847	BXGT008431	Cyclic AMP-dependent transcription factor ATF-3	467	reviewed	Transcription factor
P19544	BXGT008494	Wilms tumor protein	7490	reviewed	Nucleic acid binding
P21333	BXGT008638	Filamin-A	2316	reviewed
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22303	BXGT008751	Acetylcholinesterase	43	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P22897	BXGT008816	Macrophage mannose receptor 1	4360	reviewed
P23378	BXGT008859	Glycine dehydrogenase (decarboxylating), mitochondrial	2731	reviewed	Enzyme
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P30044	BXGT009395	Peroxiredoxin-5, mitochondrial	25824	reviewed
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35520	BXGT009842	Cystathionine beta-synthase	875	reviewed
P35968	BXGT009887	Vascular endothelial growth factor receptor 2	3791	reviewed	Kinase
P38571	BXGT010054	Lysosomal acid lipase/cholesteryl ester hydrolase	3988	reviewed	Enzyme
P41222	BXGT010237	Prostaglandin-H2 D-isomerase	5730	reviewed	Enzyme
P41440	BXGT010261	Folate transporter 1	6573	reviewed	Transporter
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42338	BXGT010303	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	5291	reviewed	Kinase
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42574	BXGT010317	Caspase-3	836	reviewed	Enzyme
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P46937	BXGT010554	Transcriptional coactivator YAP1	10413	reviewed	Enzyme modulator
P48736	BXGT010658	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	5294	reviewed	Kinase
P48740	BXGT010659	Mannan-binding lectin serine protease 1	5648	reviewed	Enzyme
P49792	BXGT010743	E3 SUMO-protein ligase RanBP2	5903	reviewed	Enzyme modulator
P55211	BXGT011111	Caspase-9	842	reviewed	Enzyme
P56945	BXGT011206	Breast cancer anti-estrogen resistance protein 1	9564	reviewed
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P63000	BXGT011481	Ras-related C3 botulinum toxin substrate 1	5879	reviewed	Enzyme modulator
P63261	BXGT011512	Actin, cytoplasmic 2	71	reviewed	Cellular structure
P78508	BXGT011845	ATP-sensitive inward rectifier potassium channel 10	3766	reviewed	Ion channel
P84022	BXGT012027	Mothers against decapentaplegic homolog 3	4088	reviewed	Transcription factor
P98155	BXGT012226	Very low-density lipoprotein receptor	7436	reviewed
Q01094	BXGT012568	Transcription factor E2F1	1869	reviewed	Nucleic acid binding
Q02763	BXGT012667	Angiopoietin-1 receptor	7010	reviewed	Kinase
Q02880	BXGT012677	DNA topoisomerase 2-beta	7155	reviewed
Q04771	BXGT012783	Activin receptor type-1	90	reviewed	Kinase
Q09472	BXGT013038	Histone acetyltransferase p300	2033	reviewed
Q12778	BXGT013263	Forkhead box protein O1	2308	reviewed
Q12791	BXGT013264	Calcium-activated potassium channel subunit alpha-1	3778	reviewed	Ion channel
Q13509	BXGT013366	Tubulin beta-3 chain	10381	reviewed	Cellular structure
Q13547	BXGT013373	Histone deacetylase 1	3065	reviewed	Epigenetic regulator
Q13705	BXGT013393	Activin receptor type-2B	93	reviewed	Kinase
Q13885	BXGT013400	Tubulin beta-2A chain	7280	reviewed	Cellular structure
Q14002	BXGT013433	Carcinoembryonic antigen-related cell adhesion molecule 7	1087	reviewed
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q14432	BXGT013469	cGMP-inhibited 3',5'-cyclic phosphodiesterase A	5139	reviewed
Q14623	BXGT013490	Indian hedgehog protein	3549	reviewed
Q14643	BXGT013493	Inositol 1,4,5-trisphosphate receptor type 1	3708	reviewed	Ion channel
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15223	BXGT013551	Nectin-1	5818	reviewed
Q15257	BXGT013554	Serine/threonine-protein phosphatase 2A activator	5524	reviewed	Enzyme modulator
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q15811	BXGT013600	Intersectin-1	6453	reviewed	Enzyme modulator
Q16236	BXGT013624	Nuclear factor erythroid 2-related factor 2	4780	reviewed	Enzyme
Q16665	BXGT013653	Hypoxia-inducible factor 1-alpha	3091	reviewed	Transcription factor
Q16820	BXGT013674	Meprin A subunit beta	4225	reviewed	Enzyme
Q7L266	BXGT016993	Isoaspartyl peptidase/L-asparaginase	80150	reviewed	Enzyme
Q7L5Y1	BXGT016996	Mitochondrial enolase superfamily member 1	55556	reviewed	Enzyme
Q7Z494	BXGT017254	Nephrocystin-3	27031	reviewed
Q8IUQ4	BXGT018336	E3 ubiquitin-protein ligase SIAH1	6477	reviewed
Q8NCC3	BXGT018546	Group XV phospholipase A2	23659	reviewed	Enzyme
Q8WTS1	BXGT018985	1-acylglycerol-3-phosphate O-acyltransferase ABHD5	51099	reviewed
Q92731	BXGT019366	Estrogen receptor beta	2100	reviewed	Nuclear receptor
Q92769	BXGT019370	Histone deacetylase 2	3066	reviewed	Epigenetic regulator
Q96GD0	BXGT019665	Pyridoxal phosphate phosphatase	57026	reviewed	Enzyme
Q99593	BXGT019939	T-box transcription factor TBX5	6910	reviewed	Transcription factor
Q99707	BXGT019952	Methionine synthase	4548	reviewed
Q9BQ15	BXGT020106	SOSS complex subunit B1	79035	reviewed	Nucleic acid binding
Q9BUZ4	BXGT020139	TNF receptor-associated factor 4	9618	reviewed	Signaling
Q9BVA1	BXGT020142	Tubulin beta-2B chain	347733	reviewed
Q9C0B1	BXGT020209	Alpha-ketoglutarate-dependent dioxygenase FTO	79068	reviewed
Q9H0A0	BXGT020434	RNA cytidine acetyltransferase	55226	reviewed
Q9H251	BXGT020449	Cadherin-23	64072	reviewed
Q9NR19	BXGT021175	Acetyl-coenzyme A synthetase, cytoplasmic	55902	reviewed	Enzyme
Q9UBK8	BXGT021655	Methionine synthase reductase	4552	reviewed
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UHI8	BXGT021701	A disintegrin and metalloproteinase with thrombospondin motifs 1	9510	reviewed	Enzyme
Q9UJ71	BXGT021725	C-type lectin domain family 4 member K	50489	reviewed	Receptor
Q9Y243	BXGT022214	RAC-gamma serine/threonine-protein kinase	10000	reviewed	Kinase
Q9Y5K2	BXGT022293	Kallikrein-4	9622	reviewed	Enzyme
P16284	BXGT022972	Platelet endothelial cell adhesion molecule	5175	reviewed	Cell adhesion
Q99958	BXGT023732	Forkhead box protein C2	2303	reviewed	Transcription factor
P40198	BXGT023750	Carcinoembryonic antigen-related cell adhesion molecule 3	1084	reviewed
Q86V25	BXGT024433	Tubulinyl-Tyr carboxypeptidase 2	79805	reviewed
A6NHR9	BXGT024875	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	23347	reviewed
Q12888	BXGT024878	TP53-binding protein 1	7158	reviewed	Epigenetic regulator
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator

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}