adisease

Showing entry for Low set ears

General Disease Information
BXGD Id	BXGD004974
Disease Name	Low set ears
Disease CUI Id	C0239234
MeSH Codes
Disease Class Name
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000598
Human Phenotype Ontology Term	Abnormality of the ear
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
A4D126	BXGT001208	D-ribitol-5-phosphate cytidylyltransferase	729920	reviewed
A5YKK6	BXGT001378	CCR4-NOT transcription complex subunit 1	23019	reviewed	Transcription factor
O00571	BXGT003938	ATP-dependent RNA helicase DDX3X	1654	reviewed
O00755	BXGT003945	Protein Wnt-7a	7476	reviewed	Signaling
O14770	BXGT004095	Homeobox protein Meis2	4212	reviewed	Enzyme
O15297	BXGT004149	Protein phosphatase 1D	8493	reviewed	Enzyme
O15305	BXGT004152	Phosphomannomutase 2	5373	reviewed	Enzyme
O43929	BXGT004638	Origin recognition complex subunit 4	5000	reviewed	Nucleic acid binding
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
O75530	BXGT005135	Polycomb protein EED	8726	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
O75909	BXGT005163	Cyclin-K	8812	reviewed	Enzyme modulator
O94766	BXGT005330	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	26229	reviewed	Enzyme
P00846	BXGT005674	ATP synthase subunit a	4508	reviewed	Transporter
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02462	BXGT005881	Collagen alpha-1(IV) chain	1282	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P02708	BXGT005927	Acetylcholine receptor subunit alpha	1134	reviewed	Ion channel
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P06753	BXGT006498	Tropomyosin alpha-3 chain	7170	reviewed	Cellular structure
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P07437	BXGT006624	Tubulin beta chain	203068	reviewed	Cellular structure
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P07949	BXGT006703	Proto-oncogene tyrosine-protein kinase receptor Ret	5979	reviewed	Kinase
P08069	BXGT006723	Insulin-like growth factor 1 receptor	3480	reviewed	Kinase
P08754	BXGT006820	Guanine nucleotide-binding protein G(i) subunit alpha	2773	reviewed	Enzyme modulator
P10826	BXGT007622	Retinoic acid receptor beta	5915	reviewed	Nuclear receptor
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P12643	BXGT007830	Bone morphogenetic protein 2	650	reviewed	Signaling
P13224	BXGT007890	Platelet glycoprotein Ib beta chain	2812	reviewed
P14678	BXGT008038	Small nuclear ribonucleoprotein-associated proteins B and B'	6628	reviewed	Nucleic acid binding
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15104	BXGT008081	Glutamine synthetase	2752	reviewed	Enzyme
P16435	BXGT008226	NADPH--cytochrome P450 reductase	5447	reviewed
P21333	BXGT008638	Filamin-A	2316	reviewed
P21359	BXGT008640	Neurofibromin	4763	reviewed	Enzyme modulator
P21675	BXGT008678	Transcription initiation factor TFIID subunit 1	6872	reviewed	Kinase
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P22681	BXGT008795	E3 ubiquitin-protein ligase CBL	867	reviewed	Enzyme
P23786	BXGT008906	Carnitine O-palmitoyltransferase 2, mitochondrial	1376	reviewed	Enzyme
P25101	BXGT009018	Endothelin-1 receptor	1909	reviewed	G-protein coupled receptor
P26640	BXGT009123	Valine--tRNA ligase	7407	reviewed
P28329	BXGT009251	Choline O-acetyltransferase	1103	reviewed	Enzyme
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P30153	BXGT009409	Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform	5518	reviewed	Enzyme
P30566	BXGT009446	Adenylosuccinate lyase	158	reviewed	Enzyme
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P31939	BXGT009584	Bifunctional purine biosynthesis protein PURH	471	reviewed	Enzyme
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35498	BXGT009838	Sodium channel protein type 1 subunit alpha	6323	reviewed	Ion channel
P35499	BXGT009839	Sodium channel protein type 4 subunit alpha	6329	reviewed	Ion channel
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P36894	BXGT009939	Bone morphogenetic protein receptor type-1A	657	reviewed	Kinase
P38919	BXGT010072	Eukaryotic initiation factor 4A-III	9775	reviewed
P41227	BXGT010238	N-alpha-acetyltransferase 10	8260	reviewed	Enzyme
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42702	BXGT010335	Leukemia inhibitory factor receptor	3977	reviewed	Signaling
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P48029	BXGT010606	Sodium- and chloride-dependent creatine transporter 1	6535	reviewed	Transporter
P48067	BXGT010619	Sodium- and chloride-dependent glycine transporter 1	6536	reviewed	Transporter
P48740	BXGT010659	Mannan-binding lectin serine protease 1	5648	reviewed	Enzyme
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P52788	BXGT010953	Spermine synthase	6611	reviewed
P54886	BXGT011092	Delta-1-pyrroline-5-carboxylate synthase	5832	reviewed	Enzyme
P55265	BXGT011117	Double-stranded RNA-specific adenosine deaminase	103	reviewed	Enzyme
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
P60880	BXGT011335	Synaptosomal-associated protein 25	6616	reviewed	Transporter
P60891	BXGT011337	Ribose-phosphate pyrophosphokinase 1	5631	reviewed	Kinase
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
P61978	BXGT011399	Heterogeneous nuclear ribonucleoprotein K	3190	reviewed	Enzyme
P62258	BXGT011415	14-3-3 protein epsilon	7531	reviewed	Chaperone
P62266	BXGT011416	40S ribosomal protein S23	6228	reviewed	Nucleic acid binding
P63000	BXGT011481	Ras-related C3 botulinum toxin substrate 1	5879	reviewed	Enzyme modulator
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
P68400	BXGT011599	Casein kinase II subunit alpha	1457	reviewed	Kinase
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
P98164	BXGT012230	Low-density lipoprotein receptor-related protein 2	4036	reviewed
Q02127	BXGT012635	Dihydroorotate dehydrogenase (quinone), mitochondrial	1723	reviewed	Enzyme
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q03431	BXGT012714	Parathyroid hormone/parathyroid hormone-related peptide receptor	5745	reviewed	G-protein coupled receptor
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q06830	BXGT012894	Peroxiredoxin-1	5052	reviewed	Enzyme
Q07001	BXGT012907	Acetylcholine receptor subunit delta	1144	reviewed	Ion channel
Q09472	BXGT013038	Histone acetyltransferase p300	2033	reviewed
Q13394	BXGT013347	Putative nucleotidyltransferase MAB21L1	4081	reviewed
Q13415	BXGT013350	Origin recognition complex subunit 1	4998	reviewed	Nucleic acid binding
Q13485	BXGT013363	Mothers against decapentaplegic homolog 4	4089	reviewed	Transcription factor
Q13509	BXGT013366	Tubulin beta-3 chain	10381	reviewed	Cellular structure
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q13555	BXGT013375	Calcium/calmodulin-dependent protein kinase type II subunit gamma	818	reviewed	Kinase
Q14004	BXGT013435	Cyclin-dependent kinase 13	8621	reviewed	Kinase
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q14671	BXGT013496	Pumilio homolog 1	9698	reviewed	Nucleic acid binding
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q14839	BXGT013509	Chromodomain-helicase-DNA-binding protein 4	1108	reviewed
Q15029	BXGT013524	116 kDa U5 small nuclear ribonucleoprotein component	9343	reviewed	Enzyme
Q15067	BXGT013532	Peroxisomal acyl-coenzyme A oxidase 1	51	reviewed	Enzyme
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15131	BXGT013545	Cyclin-dependent kinase 10	8558	reviewed	Kinase
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q15751	BXGT013593	Probable E3 ubiquitin-protein ligase HERC1	8925	reviewed	Enzyme modulator
Q16719	BXGT013662	Kynureninase	8942	reviewed	Enzyme
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q4G0J3	BXGT014809	La-related protein 7	51574	reviewed	Nucleic acid binding
Q6NUK1	BXGT016429	Calcium-binding mitochondrial carrier protein SCaMC-1	29957	reviewed	Transporter
Q6UX04	BXGT016571	Spliceosome-associated protein CWC27 homolog	10283	reviewed	Enzyme
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q8TD30	BXGT018805	Alanine aminotransferase 2	84706	reviewed	Enzyme
Q8WWQ0	BXGT019003	PH-interacting protein	55023	reviewed	Epigenetic regulator
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q92793	BXGT019374	CREB-binding protein	1387	reviewed
Q92794	BXGT019375	Histone acetyltransferase KAT6A	7994	reviewed	Enzyme
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q96C36	BXGT019631	Pyrroline-5-carboxylate reductase 2	29920	reviewed
Q96J02	BXGT019679	E3 ubiquitin-protein ligase Itchy homolog	83737	reviewed	Enzyme
Q9BWP8	BXGT020153	Collectin-11	78989	reviewed	Surfactant
Q9GZV3	BXGT020427	High affinity choline transporter 1	60482	reviewed	Transporter
Q9H4W6	BXGT020478	Transcription factor COE3	253738	reviewed
Q9H6X2	BXGT020486	Anthrax toxin receptor 1	84168	reviewed	Receptor
Q9H8P0	BXGT020497	Polyprenol reductase	79644	reviewed
Q9H9B1	BXGT020501	Histone-lysine N-methyltransferase EHMT1	79813	reviewed	Epigenetic regulator
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q9NS87	BXGT021201	Kinesin-like protein KIF15	56992	reviewed	Cellular structure
Q9NYG8	BXGT021257	Potassium channel subfamily K member 4	50801	reviewed	Ion channel
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
Q9UBV7	BXGT021665	Beta-1,4-galactosyltransferase 7	11285	reviewed
Q9UHD8	BXGT021698	Septin-9	10801	reviewed	Enzyme modulator
Q9UKM7	BXGT021747	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	11253	reviewed	Chaperone
Q9UM47	BXGT021772	Neurogenic locus notch homolog protein 3	4854	reviewed
Q9UPT6	BXGT021801	C-Jun-amino-terminal kinase-interacting protein 3	23162	reviewed	Enzyme modulator
Q9UPZ9	BXGT021804	Serine/threonine-protein kinase ICK	22858	reviewed	Kinase
Q9Y223	BXGT022207	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	10020	reviewed	Enzyme
Q9Y263	BXGT022220	Phospholipase A-2-activating protein	9373	reviewed	Enzyme modulator
Q9Y3Z3	BXGT022268	Deoxynucleoside triphosphate triphosphohydrolase SAMHD1	25939	reviewed
Q9Y4U1	BXGT022285	Methylmalonic aciduria and homocystinuria type C protein	25974	reviewed
Q9Y617	BXGT022314	Phosphoserine aminotransferase	29968	reviewed
Q96C86	BXGT022803	m7GpppX diphosphatase	28960	reviewed	Enzyme
Q92785	BXGT023424	Zinc finger protein ubi-d4	5977	reviewed	Enzyme
P56703	BXGT023722	Proto-oncogene Wnt-3	7473	reviewed	Signaling
Q53GS7	BXGT023762	Nucleoporin GLE1	2733	reviewed	Transporter
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
Q96L73	BXGT024676	Histone-lysine N-methyltransferase, H3 lysine-36 specific	64324	reviewed	Epigenetic regulator
Q9H0W8	BXGT024746	Protein SMG9	56006	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
Q14807	BXGT024966	Kinesin-like protein KIF22	3835	reviewed	Cellular structure
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
P49366	BXGT025175	Deoxyhypusine synthase	1725	reviewed
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed
Q96MF2	BXGT025769	SH3 and cysteine-rich domain-containing protein 3	246329	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}