adisease

Showing entry for Frontal bossing

General Disease Information
BXGD Id	BXGD004446
Disease Name	Frontal bossing
Disease CUI Id	C0221354
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
A4D126	BXGT001208	D-ribitol-5-phosphate cytidylyltransferase	729920	reviewed
O00459	BXGT003924	Phosphatidylinositol 3-kinase regulatory subunit beta	5296	reviewed	Enzyme modulator
O00754	BXGT003944	Lysosomal alpha-mannosidase	4125	reviewed
O14646	BXGT004079	Chromodomain-helicase-DNA-binding protein 1	1105	reviewed
O14764	BXGT004094	Gamma-aminobutyric acid receptor subunit delta	2563	reviewed	Ion channel
O15357	BXGT004156	Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2	3636	reviewed
O43683	BXGT004614	Mitotic checkpoint serine/threonine-protein kinase BUB1	699	reviewed	Kinase
O60341	BXGT004873	Lysine-specific histone demethylase 1A	23028	reviewed	Epigenetic regulator
O60566	BXGT004884	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta	701	reviewed	Kinase
O60931	BXGT004911	Cystinosin	1497	reviewed
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
O75147	BXGT005102	Obscurin-like protein 1	23363	reviewed
O75369	BXGT005119	Filamin-B	2317	reviewed
O75496	BXGT005132	Geminin	51053	reviewed
O75688	BXGT005145	Protein phosphatase 1B	5495	reviewed	Enzyme
O94766	BXGT005330	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	26229	reviewed	Enzyme
O96007	BXGT005413	Molybdopterin synthase catalytic subunit	4338	reviewed
O96028	BXGT005417	Histone-lysine N-methyltransferase NSD2	7468	reviewed	Epigenetic regulator
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
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P02452	BXGT005878	Collagen alpha-1(I) chain	1277	reviewed
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02549	BXGT005890	Spectrin alpha chain, erythrocytic 1	6708	reviewed
P04066	BXGT006142	Tissue alpha-L-fucosidase	2517	reviewed
P05186	BXGT006338	Alkaline phosphatase, tissue-nonspecific isozyme	249	reviewed	Enzyme
P07237	BXGT006576	Protein disulfide-isomerase	5034	reviewed
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P08559	BXGT006788	Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	5160	reviewed
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P11473	BXGT007709	Vitamin D3 receptor	7421	reviewed	Nuclear receptor
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P16435	BXGT008226	NADPH--cytochrome P450 reductase	5447	reviewed
P21333	BXGT008638	Filamin-A	2316	reviewed
P21359	BXGT008640	Neurofibromin	4763	reviewed	Enzyme modulator
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P22681	BXGT008795	E3 ubiquitin-protein ligase CBL	867	reviewed	Enzyme
P25963	BXGT009080	NF-kappa-B inhibitor alpha	4792	reviewed
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
P31939	BXGT009584	Bifunctional purine biosynthesis protein PURH	471	reviewed	Enzyme
P32322	BXGT009624	Pyrroline-5-carboxylate reductase 1, mitochondrial	5831	reviewed
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P35498	BXGT009838	Sodium channel protein type 1 subunit alpha	6323	reviewed	Ion channel
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P36507	BXGT009923	Dual specificity mitogen-activated protein kinase kinase 2	5605	reviewed	Kinase
P36894	BXGT009939	Bone morphogenetic protein receptor type-1A	657	reviewed	Kinase
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P40763	BXGT010202	Signal transducer and activator of transcription 3	6774	reviewed	Nucleic acid binding
P41227	BXGT010238	N-alpha-acetyltransferase 10	8260	reviewed	Enzyme
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42702	BXGT010335	Leukemia inhibitory factor receptor	3977	reviewed	Signaling
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P48048	BXGT010610	ATP-sensitive inward rectifier potassium channel 1	3758	reviewed	Ion channel
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P54886	BXGT011092	Delta-1-pyrroline-5-carboxylate synthase	5832	reviewed	Enzyme
P55263	BXGT011115	Adenosine kinase	132	reviewed	Kinase
P56524	BXGT011176	Histone deacetylase 4	9759	reviewed	Epigenetic regulator
P58400	BXGT011235	Neurexin-1-beta	9378	reviewed
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P62258	BXGT011415	14-3-3 protein epsilon	7531	reviewed	Chaperone
P68871	BXGT011615	Hemoglobin subunit beta	3043	reviewed
P69905	BXGT011649	Hemoglobin subunit alpha	3040	reviewed
Q01968	BXGT012626	Inositol polyphosphate 5-phosphatase OCRL-1	4952	reviewed	Enzyme
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
Q03692	BXGT012735	Collagen alpha-1(X) chain	1300	reviewed	Extracellular structure
Q05586	BXGT012826	Glutamate receptor ionotropic, NMDA 1	2902	reviewed	Ion channel
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q06787	BXGT012890	Synaptic functional regulator FMR1	2332	reviewed	Nucleic acid binding
Q07837	BXGT012943	Neutral and basic amino acid transport protein rBAT	6519	reviewed	Transporter
Q09472	BXGT013038	Histone acetyltransferase p300	2033	reviewed
Q13153	BXGT013319	Serine/threonine-protein kinase PAK 1	5058	reviewed	Kinase
Q13303	BXGT013336	Voltage-gated potassium channel subunit beta-2	8514	reviewed	Ion channel
Q13363	BXGT013344	C-terminal-binding protein 1	1487	reviewed	Transcription factor
Q13415	BXGT013350	Origin recognition complex subunit 1	4998	reviewed	Nucleic acid binding
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q15067	BXGT013532	Peroxisomal acyl-coenzyme A oxidase 1	51	reviewed	Enzyme
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15233	BXGT013552	Non-POU domain-containing octamer-binding protein	4841	reviewed	Nucleic acid binding
Q15257	BXGT013554	Serine/threonine-protein phosphatase 2A activator	5524	reviewed	Enzyme modulator
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q15751	BXGT013593	Probable E3 ubiquitin-protein ligase HERC1	8925	reviewed	Enzyme modulator
Q16719	BXGT013662	Kynureninase	8942	reviewed	Enzyme
Q16832	BXGT013678	Discoidin domain-containing receptor 2	4921	reviewed	Kinase
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q6PCD5	BXGT016464	E3 ubiquitin-protein ligase RFWD3	55159	reviewed	Enzyme
Q6UX04	BXGT016571	Spliceosome-associated protein CWC27 homolog	10283	reviewed	Enzyme
Q6VVX0	BXGT016585	Vitamin D 25-hydroxylase	120227	reviewed
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
Q92793	BXGT019374	CREB-binding protein	1387	reviewed
Q96J02	BXGT019679	E3 ubiquitin-protein ligase Itchy homolog	83737	reviewed	Enzyme
Q96P20	BXGT019704	NACHT, LRR and PYD domains-containing protein 3	114548	reviewed
Q99519	BXGT019928	Sialidase-1	4758	reviewed	Enzyme
Q99798	BXGT019962	Aconitate hydratase, mitochondrial	50	reviewed	Enzyme
Q9BYW2	BXGT020192	Histone-lysine N-methyltransferase SETD2	29072	reviewed	Epigenetic regulator
Q9H6X2	BXGT020486	Anthrax toxin receptor 1	84168	reviewed	Receptor
Q9NPD8	BXGT021152	Ubiquitin-conjugating enzyme E2 T	29089	reviewed
Q9NPI8	BXGT021161	Fanconi anemia group F protein	2188	reviewed
Q9NW38	BXGT021230	E3 ubiquitin-protein ligase FANCL	55120	reviewed	Enzyme
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q9UI95	BXGT021714	Mitotic spindle assembly checkpoint protein MAD2B	10459	reviewed
Q9UKM7	BXGT021747	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	11253	reviewed	Chaperone
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9UPY3	BXGT021802	Endoribonuclease Dicer	23405	reviewed	Enzyme
Q9UQD0	BXGT021811	Sodium channel protein type 8 subunit alpha	6334	reviewed	Ion channel
Q9Y223	BXGT022207	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	10020	reviewed	Enzyme
Q9Y2K2	BXGT022238	Serine/threonine-protein kinase SIK3	23387	reviewed	Kinase
Q9Y5X0	BXGT022305	Sorting nexin-10	29887	reviewed
Q9Y6K9	BXGT022333	NF-kappa-B essential modulator	8517	reviewed	Kinase
Q7Z624	BXGT022792	Calmodulin-lysine N-methyltransferase	79823	reviewed
P25054	BXGT022961	Adenomatous polyposis coli protein	324	reviewed
Q01543	BXGT023137	Friend leukemia integration 1 transcription factor	2313	reviewed	Transcription factor
P07954	BXGT023939	Fumarate hydratase, mitochondrial	2271	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
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
Q14807	BXGT024966	Kinesin-like protein KIF22	3835	reviewed	Cellular structure
Q96DA2	BXGT025522	Ras-related protein Rab-39B	116442	reviewed
P51798	BXGT026083	H(+)/Cl(-) exchange transporter 7	1186	reviewed	Ion channel

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}