adisease

Showing entry for Short nose

General Disease Information
BXGD Id	BXGD015383
Disease Name	Short nose
Disease CUI Id	C1854114
MeSH Codes
Disease Class Name
Semantic Type	Finding
Human Phenotype Ontology Id	HP:0000152
Human Phenotype Ontology Term	Abnormality of head or neck
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
A0A024RAV5	BXGT000013	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b	3845	unreviewed
O00755	BXGT003945	Protein Wnt-7a	7476	reviewed	Signaling
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O15357	BXGT004156	Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2	3636	reviewed
O43497	BXGT004596	Voltage-dependent T-type calcium channel subunit alpha-1G	8913	reviewed	Ion channel
O60566	BXGT004884	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta	701	reviewed	Kinase
O60568	BXGT004885	Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3	8985	reviewed	Enzyme
O75369	BXGT005119	Filamin-B	2317	reviewed
O75496	BXGT005132	Geminin	51053	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
O75914	BXGT005165	Serine/threonine-protein kinase PAK 3	5063	reviewed	Kinase
O96007	BXGT005413	Molybdopterin synthase catalytic subunit	4338	reviewed
P00519	BXGT005570	Tyrosine-protein kinase ABL1	25	reviewed	Kinase
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01308	BXGT005749	Insulin	3630	reviewed
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P08708	BXGT006817	40S ribosomal protein S17	6218	reviewed	Nucleic acid binding
P10070	BXGT007534	Zinc finger protein GLI2	2736	reviewed
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P12643	BXGT007830	Bone morphogenetic protein 2	650	reviewed	Signaling
P12955	BXGT007865	Xaa-Pro dipeptidase	5184	reviewed	Enzyme
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15884	BXGT008166	Transcription factor 4	6925	reviewed	Transcription factor
P20933	BXGT008618	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	175	reviewed	Enzyme
P21333	BXGT008638	Filamin-A	2316	reviewed
P21579	BXGT008665	Synaptotagmin-1	6857	reviewed	Transporter
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22314	BXGT008755	Ubiquitin-like modifier-activating enzyme 1	7317	reviewed	Enzyme
P26640	BXGT009123	Valine--tRNA ligase	7407	reviewed
P30566	BXGT009446	Adenylosuccinate lyase	158	reviewed	Enzyme
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P35557	BXGT009846	Glucokinase	2645	reviewed	Kinase
P36507	BXGT009923	Dual specificity mitogen-activated protein kinase kinase 2	5605	reviewed	Kinase
P38435	BXGT010040	Vitamin K-dependent gamma-carboxylase	2677	reviewed
P39019	BXGT010082	40S ribosomal protein S19	6223	reviewed	Nucleic acid binding
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42702	BXGT010335	Leukemia inhibitory factor receptor	3977	reviewed	Signaling
P42766	BXGT010337	60S ribosomal protein L35	11224	reviewed	Nucleic acid binding
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P54132	BXGT011032	Bloom syndrome protein	641	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
P62258	BXGT011415	14-3-3 protein epsilon	7531	reviewed	Chaperone
P62857	BXGT011466	40S ribosomal protein S28	6234	reviewed	Nucleic acid binding
P98164	BXGT012230	Low-density lipoprotein receptor-related protein 2	4036	reviewed
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q03431	BXGT012714	Parathyroid hormone/parathyroid hormone-related peptide receptor	5745	reviewed	G-protein coupled receptor
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q07020	BXGT012914	60S ribosomal protein L18	6141	reviewed	Nucleic acid binding
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q08499	BXGT012988	cAMP-specific 3',5'-cyclic phosphodiesterase 4D	5144	reviewed
Q09428	BXGT013036	ATP-binding cassette sub-family C member 8	6833	reviewed	Transporter
Q12756	BXGT013261	Kinesin-like protein KIF1A	547	reviewed	Cellular structure
Q12879	BXGT013275	Glutamate receptor ionotropic, NMDA 2A	2903	reviewed	Ion channel
Q12882	BXGT013276	Dihydropyrimidine dehydrogenase [NADP(+)]	1806	reviewed	Enzyme
Q14004	BXGT013435	Cyclin-dependent kinase 13	8621	reviewed	Kinase
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q14654	BXGT013495	ATP-sensitive inward rectifier potassium channel 11	3767	reviewed	Ion channel
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q15029	BXGT013524	116 kDa U5 small nuclear ribonucleoprotein component	9343	reviewed	Enzyme
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q15465	BXGT013573	Sonic hedgehog protein	6469	reviewed
Q16832	BXGT013678	Discoidin domain-containing receptor 2	4921	reviewed	Kinase
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q4KMG0	BXGT014850	Cell adhesion molecule-related/down-regulated by oncogenes	50937	reviewed
Q6NUK1	BXGT016429	Calcium-binding mitochondrial carrier protein SCaMC-1	29957	reviewed	Transporter
Q7L3T8	BXGT016994	Probable proline--tRNA ligase, mitochondrial	25973	reviewed	Enzyme
Q8WVQ1	BXGT018996	Soluble calcium-activated nucleotidase 1	124583	reviewed
Q8WWQ0	BXGT019003	PH-interacting protein	55023	reviewed	Epigenetic regulator
Q96BZ9	BXGT019629	TBC1 domain family member 20	128637	reviewed
Q96C36	BXGT019631	Pyrroline-5-carboxylate reductase 2	29920	reviewed
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
Q9H9B1	BXGT020501	Histone-lysine N-methyltransferase EHMT1	79813	reviewed	Epigenetic regulator
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
Q9NZN1	BXGT021279	Interleukin-1 receptor accessory protein-like 1	11141	reviewed	Receptor
Q9UBC3	BXGT021650	DNA (cytosine-5)-methyltransferase 3B	1789	reviewed
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q9UHX1	BXGT021707	Poly(U)-binding-splicing factor PUF60	22827	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9Y263	BXGT022220	Phospholipase A-2-activating protein	9373	reviewed	Enzyme modulator
Q9Y2Z4	BXGT022251	Tyrosine--tRNA ligase, mitochondrial	51067	reviewed	Enzyme
Q9Y606	BXGT022312	tRNA pseudouridine synthase A	80324	reviewed	Enzyme
Q96C86	BXGT022803	m7GpppX diphosphatase	28960	reviewed	Enzyme
P25054	BXGT022961	Adenomatous polyposis coli protein	324	reviewed
Q01543	BXGT023137	Friend leukemia integration 1 transcription factor	2313	reviewed	Transcription factor
Q15583	BXGT024027	Homeobox protein TGIF1	7050	reviewed	Enzyme
A6NHR9	BXGT024875	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	23347	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
P38646	BXGT024954	Stress-70 protein, mitochondrial	3313	reviewed
Q14807	BXGT024966	Kinesin-like protein KIF22	3835	reviewed	Cellular structure
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
Q9BYC5	BXGT025656	Alpha-(1,6)-fucosyltransferase	2530	reviewed
P35250	BXGT025854	Replication factor C subunit 2	5982	reviewed	Enzyme
Q9UQE7	BXGT025899	Structural maintenance of chromosomes protein 3	9126	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}