adisease

Showing entry for Micrognathism

General Disease Information
BXGD Id	BXGD001884
Disease Name	Micrognathism
Disease CUI Id	C0025990
MeSH Codes	C16 C05 C07
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000152 HP:0000924
Human Phenotype Ontology Term	Abnormality of head or neck; Abnormality of the skeletal system
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
O00444	BXGT003921	Serine/threonine-protein kinase PLK4	10733	reviewed	Kinase
O00571	BXGT003938	ATP-dependent RNA helicase DDX3X	1654	reviewed
O00755	BXGT003945	Protein Wnt-7a	7476	reviewed	Signaling
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O15146	BXGT004131	Muscle, skeletal receptor tyrosine-protein kinase	4593	reviewed	Kinase
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O43318	BXGT004586	Mitogen-activated protein kinase kinase kinase 7	6885	reviewed	Kinase
O43683	BXGT004614	Mitotic checkpoint serine/threonine-protein kinase BUB1	699	reviewed	Kinase
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
O60706	BXGT004896	ATP-binding cassette sub-family C member 9	10060	reviewed	Transporter
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
O75369	BXGT005119	Filamin-B	2317	reviewed
O75496	BXGT005132	Geminin	51053	reviewed
O75530	BXGT005135	Polycomb protein EED	8726	reviewed
O75581	BXGT005136	Low-density lipoprotein receptor-related protein 6	4040	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
O96028	BXGT005417	Histone-lysine N-methyltransferase NSD2	7468	reviewed	Epigenetic regulator
P00439	BXGT005539	Phenylalanine-4-hydroxylase	5053	reviewed
P00519	BXGT005570	Tyrosine-protein kinase ABL1	25	reviewed	Kinase
P00736	BXGT005632	Complement C1r subcomponent	715	reviewed	Enzyme
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P02452	BXGT005878	Collagen alpha-1(I) chain	1277	reviewed
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02461	BXGT005880	Collagen alpha-1(III) chain	1281	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
P06753	BXGT006498	Tropomyosin alpha-3 chain	7170	reviewed	Cellular structure
P07237	BXGT006576	Protein disulfide-isomerase	5034	reviewed
P07437	BXGT006624	Tubulin beta chain	203068	reviewed	Cellular structure
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P08069	BXGT006723	Insulin-like growth factor 1 receptor	3480	reviewed	Kinase
P08243	BXGT006755	Asparagine synthetase [glutamine-hydrolyzing]	440	reviewed	Enzyme
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P08754	BXGT006820	Guanine nucleotide-binding protein G(i) subunit alpha	2773	reviewed	Enzyme modulator
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P09871	BXGT006932	Complement C1s subcomponent	716	reviewed	Enzyme
P10301	BXGT007556	Ras-related protein R-Ras	6237	reviewed	Enzyme modulator
P10826	BXGT007622	Retinoic acid receptor beta	5915	reviewed	Nuclear receptor
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P12955	BXGT007865	Xaa-Pro dipeptidase	5184	reviewed	Enzyme
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
P16157	BXGT008203	Ankyrin-1	286	reviewed
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P19544	BXGT008494	Wilms tumor protein	7490	reviewed	Nucleic acid binding
P21333	BXGT008638	Filamin-A	2316	reviewed
P21359	BXGT008640	Neurofibromin	4763	reviewed	Enzyme modulator
P21579	BXGT008665	Synaptotagmin-1	6857	reviewed	Transporter
P21675	BXGT008678	Transcription initiation factor TFIID subunit 1	6872	reviewed	Kinase
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P21860	BXGT008698	Receptor tyrosine-protein kinase erbB-3	2065	reviewed	Kinase
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P22314	BXGT008755	Ubiquitin-like modifier-activating enzyme 1	7317	reviewed	Enzyme
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
P25101	BXGT009018	Endothelin-1 receptor	1909	reviewed	G-protein coupled receptor
P26640	BXGT009123	Valine--tRNA ligase	7407	reviewed
P27482	BXGT009185	Calmodulin-like protein 3	810	reviewed	Calcium-binding protein
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
P28907	BXGT009301	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	952	reviewed	Enzyme
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P35858	BXGT009876	Insulin-like growth factor-binding protein complex acid labile subunit	3483	reviewed	Receptor
P36897	BXGT009941	TGF-beta receptor type-1	7046	reviewed	Kinase
P37173	BXGT009970	TGF-beta receptor type-2	7048	reviewed	Kinase
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P38919	BXGT010072	Eukaryotic initiation factor 4A-III	9775	reviewed
P39019	BXGT010082	40S ribosomal protein S19	6223	reviewed	Nucleic acid binding
P41229	BXGT010239	Lysine-specific demethylase 5C	8242	reviewed
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42356	BXGT010305	Phosphatidylinositol 4-kinase alpha	5297	reviewed	Kinase
P42702	BXGT010335	Leukemia inhibitory factor receptor	3977	reviewed	Signaling
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P48051	BXGT010611	G protein-activated inward rectifier potassium channel 2	3763	reviewed	Ion channel
P49368	BXGT010701	T-complex protein 1 subunit gamma	7203	reviewed	Chaperone
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
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
P62857	BXGT011466	40S ribosomal protein S28	6234	reviewed	Nucleic acid binding
P63165	BXGT011506	Small ubiquitin-related modifier 1	7341	reviewed
P63261	BXGT011512	Actin, cytoplasmic 2	71	reviewed	Cellular structure
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
P68400	BXGT011599	Casein kinase II subunit alpha	1457	reviewed	Kinase
P69905	BXGT011649	Hemoglobin subunit alpha	3040	reviewed
P78330	BXGT011833	Phosphoserine phosphatase	5723	reviewed	Enzyme
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q00535	BXGT012534	Cyclin-dependent-like kinase 5	1020	reviewed	Kinase
Q01105	BXGT012569	Protein SET	6418	reviewed	Enzyme modulator
Q01968	BXGT012626	Inositol polyphosphate 5-phosphatase OCRL-1	4952	reviewed	Enzyme
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q02127	BXGT012635	Dihydroorotate dehydrogenase (quinone), mitochondrial	1723	reviewed	Enzyme
Q02224	BXGT012643	Centromere-associated protein E	1062	reviewed	Cellular structure
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
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q03692	BXGT012735	Collagen alpha-1(X) chain	1300	reviewed	Extracellular structure
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q07001	BXGT012907	Acetylcholine receptor subunit delta	1144	reviewed	Ion channel
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q08209	BXGT012968	Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform	5530	reviewed
Q09472	BXGT013038	Histone acetyltransferase p300	2033	reviewed
Q12830	BXGT013268	Nucleosome-remodeling factor subunit BPTF	2186	reviewed
Q12882	BXGT013276	Dihydropyrimidine dehydrogenase [NADP(+)]	1806	reviewed	Enzyme
Q13363	BXGT013344	C-terminal-binding protein 1	1487	reviewed	Transcription factor
Q13415	BXGT013350	Origin recognition complex subunit 1	4998	reviewed	Nucleic acid binding
Q13426	BXGT013353	DNA repair protein XRCC4	7518	reviewed
Q13509	BXGT013366	Tubulin beta-3 chain	10381	reviewed	Cellular structure
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q13627	BXGT013385	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	1859	reviewed	Kinase
Q14004	BXGT013435	Cyclin-dependent kinase 13	8621	reviewed	Kinase
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q15022	BXGT013523	Polycomb protein SUZ12	23512	reviewed	Nucleic acid binding
Q15029	BXGT013524	116 kDa U5 small nuclear ribonucleoprotein component	9343	reviewed	Enzyme
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15223	BXGT013551	Nectin-1	5818	reviewed
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q15910	BXGT013612	Histone-lysine N-methyltransferase EZH2	2146	reviewed	Epigenetic regulator
Q16832	BXGT013678	Discoidin domain-containing receptor 2	4921	reviewed	Kinase
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q53EZ4	BXGT015010	Centrosomal protein of 55 kDa	55165	reviewed
Q6NUK1	BXGT016429	Calcium-binding mitochondrial carrier protein SCaMC-1	29957	reviewed	Transporter
Q6PCD5	BXGT016464	E3 ubiquitin-protein ligase RFWD3	55159	reviewed	Enzyme
Q6UX04	BXGT016571	Spliceosome-associated protein CWC27 homolog	10283	reviewed	Enzyme
Q6XUX3	BXGT016612	Dual serine/threonine and tyrosine protein kinase	25778	reviewed	Kinase
Q86YC2	BXGT017633	Partner and localizer of BRCA2	79728	reviewed
Q8IYD8	BXGT018367	Fanconi anemia group M protein	57697	reviewed	Enzyme
Q8NCM8	BXGT018548	Cytoplasmic dynein 2 heavy chain 1	79659	reviewed	Enzyme
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q8NG31	BXGT018565	Kinetochore scaffold 1	57082	reviewed
Q8TD19	BXGT018804	Serine/threonine-protein kinase Nek9	91754	reviewed	Kinase
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
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q92979	BXGT019402	Ribosomal RNA small subunit methyltransferase NEP1	10436	reviewed	Nucleic acid binding
Q96BZ9	BXGT019629	TBC1 domain family member 20	128637	reviewed
Q96PU5	BXGT019711	E3 ubiquitin-protein ligase NEDD4-like	23327	reviewed	Enzyme
Q96PY6	BXGT019712	Serine/threonine-protein kinase Nek1	4750	reviewed	Kinase
Q96S44	BXGT019738	EKC/KEOPS complex subunit TP53RK	112858	reviewed	Kinase
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
Q9BYW2	BXGT020192	Histone-lysine N-methyltransferase SETD2	29072	reviewed	Epigenetic regulator
Q9H3H5	BXGT020461	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	1798	reviewed	Enzyme
Q9H6X2	BXGT020486	Anthrax toxin receptor 1	84168	reviewed	Receptor
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
Q9NPC2	BXGT021150	Potassium channel subfamily K member 9	51305	reviewed	Ion channel
Q9NPD8	BXGT021152	Ubiquitin-conjugating enzyme E2 T	29089	reviewed
Q9NPI8	BXGT021161	Fanconi anemia group F protein	2188	reviewed
Q9NRF2	BXGT021185	SH2B adapter protein 1	25970	reviewed
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q9NW38	BXGT021230	E3 ubiquitin-protein ligase FANCL	55120	reviewed	Enzyme
Q9NX14	BXGT021242	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial	54539	reviewed	Enzyme
Q9NYG8	BXGT021257	Potassium channel subfamily K member 4	50801	reviewed	Ion channel
Q9NYL2	BXGT021259	Mitogen-activated protein kinase kinase kinase 20	51776	reviewed	Kinase
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
Q9UI95	BXGT021714	Mitotic spindle assembly checkpoint protein MAD2B	10459	reviewed
Q9UM47	BXGT021772	Neurogenic locus notch homolog protein 3	4854	reviewed
Q9UPZ9	BXGT021804	Serine/threonine-protein kinase ICK	22858	reviewed	Kinase
Q9UQD0	BXGT021811	Sodium channel protein type 8 subunit alpha	6334	reviewed	Ion channel
Q9Y263	BXGT022220	Phospholipase A-2-activating protein	9373	reviewed	Enzyme modulator
Q9Y2Z4	BXGT022251	Tyrosine--tRNA ligase, mitochondrial	51067	reviewed	Enzyme
Q9Y4D7	BXGT022275	Plexin-D1	23129	reviewed
Q9Y606	BXGT022312	tRNA pseudouridine synthase A	80324	reviewed	Enzyme
Q9Y617	BXGT022314	Phosphoserine aminotransferase	29968	reviewed
Q96KN7	BXGT022801	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	57096	reviewed	Enzyme modulator
P25054	BXGT022961	Adenomatous polyposis coli protein	324	reviewed
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
P56703	BXGT023722	Proto-oncogene Wnt-3	7473	reviewed	Signaling
Q53GS7	BXGT023762	Nucleoporin GLE1	2733	reviewed	Transporter
Q14657	BXGT024111	EKC/KEOPS complex subunit LAGE3	8270	reviewed
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
P08123	BXGT024477	Collagen alpha-2(I) chain	1278	reviewed
Q96L73	BXGT024676	Histone-lysine N-methyltransferase, H3 lysine-36 specific	64324	reviewed	Epigenetic regulator
Q9H040	BXGT024831	SprT-like domain-containing protein Spartan	83932	reviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed
Q96MF2	BXGT025769	SH3 and cysteine-rich domain-containing protein 3	246329	reviewed
Q7Z699	BXGT025789	Sprouty-related, EVH1 domain-containing protein 1	161742	reviewed	Receptor
P35250	BXGT025854	Replication factor C subunit 2	5982	reviewed	Enzyme
Q9UQE7	BXGT025899	Structural maintenance of chromosomes protein 3	9126	reviewed
P58215	BXGT026106	Lysyl oxidase homolog 3	84695	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}