adisease

Showing entry for Macrotia

General Disease Information
BXGD Id	BXGD003586
Disease Name	Macrotia
Disease CUI Id	C0152421
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
O00571	BXGT003938	ATP-dependent RNA helicase DDX3X	1654	reviewed
O00754	BXGT003944	Lysosomal alpha-mannosidase	4125	reviewed
O14578	BXGT004072	Citron Rho-interacting kinase	11113	reviewed	Kinase
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O15054	BXGT004121	Lysine-specific demethylase 6B	23135	reviewed	Epigenetic regulator
O15120	BXGT004129	1-acyl-sn-glycerol-3-phosphate acyltransferase beta	10555	reviewed
O15247	BXGT004142	Chloride intracellular channel protein 2	1193	reviewed	Ion channel
O15305	BXGT004152	Phosphomannomutase 2	5373	reviewed	Enzyme
O15550	BXGT004179	Lysine-specific demethylase 6A	7403	reviewed	Epigenetic regulator
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O75530	BXGT005135	Polycomb protein EED	8726	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
O75914	BXGT005165	Serine/threonine-protein kinase PAK 3	5063	reviewed	Kinase
O76039	BXGT005171	Cyclin-dependent kinase-like 5	6792	reviewed	Kinase
P00519	BXGT005570	Tyrosine-protein kinase ABL1	25	reviewed	Kinase
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P02708	BXGT005927	Acetylcholine receptor subunit alpha	1134	reviewed	Ion channel
P02765	BXGT005952	Alpha-2-HS-glycoprotein	197	reviewed	Enzyme modulator
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P08243	BXGT006755	Asparagine synthetase [glutamine-hydrolyzing]	440	reviewed	Enzyme
P10070	BXGT007534	Zinc finger protein GLI2	2736	reviewed
P11166	BXGT007661	Solute carrier family 2, facilitated glucose transporter member 1	6513	reviewed	Transporter
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P18564	BXGT008414	Integrin beta-6	3694	reviewed	Receptor
P21333	BXGT008638	Filamin-A	2316	reviewed
P21675	BXGT008678	Transcription initiation factor TFIID subunit 1	6872	reviewed	Kinase
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22314	BXGT008755	Ubiquitin-like modifier-activating enzyme 1	7317	reviewed	Enzyme
P22681	BXGT008795	E3 ubiquitin-protein ligase CBL	867	reviewed	Enzyme
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P36021	BXGT009893	Monocarboxylate transporter 8	6567	reviewed	Transporter
P36507	BXGT009923	Dual specificity mitogen-activated protein kinase kinase 2	5605	reviewed	Kinase
P41227	BXGT010238	N-alpha-acetyltransferase 10	8260	reviewed	Enzyme
P41229	BXGT010239	Lysine-specific demethylase 5C	8242	reviewed
P42263	BXGT010295	Glutamate receptor 3	2892	reviewed	Ion channel
P48048	BXGT010610	ATP-sensitive inward rectifier potassium channel 1	3758	reviewed	Ion channel
P48058	BXGT010614	Glutamate receptor 4	2893	reviewed	Ion channel
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P54802	BXGT011081	Alpha-N-acetylglucosaminidase	4669	reviewed
P54886	BXGT011092	Delta-1-pyrroline-5-carboxylate synthase	5832	reviewed	Enzyme
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P61224	BXGT011370	Ras-related protein Rap-1b	5908	reviewed	Enzyme modulator
P61978	BXGT011399	Heterogeneous nuclear ribonucleoprotein K	3190	reviewed	Enzyme
P62834	BXGT011464	Ras-related protein Rap-1A	5906	reviewed	Enzyme modulator
P78504	BXGT011844	Protein jagged-1	182	reviewed
Q00604	BXGT012538	Norrin	4693	reviewed
Q01105	BXGT012569	Protein SET	6418	reviewed	Enzyme modulator
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q06787	BXGT012890	Synaptic functional regulator FMR1	2332	reviewed	Nucleic acid binding
Q06830	BXGT012894	Peroxiredoxin-1	5052	reviewed	Enzyme
Q09428	BXGT013036	ATP-binding cassette sub-family C member 8	6833	reviewed	Transporter
Q10469	BXGT013200	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	4247	reviewed	Enzyme
Q12756	BXGT013261	Kinesin-like protein KIF1A	547	reviewed	Cellular structure
Q13224	BXGT013328	Glutamate receptor ionotropic, NMDA 2B	2904	reviewed	Ion channel
Q13627	BXGT013385	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	1859	reviewed	Kinase
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q15022	BXGT013523	Polycomb protein SUZ12	23512	reviewed	Nucleic acid binding
Q15223	BXGT013551	Nectin-1	5818	reviewed
Q15751	BXGT013593	Probable E3 ubiquitin-protein ligase HERC1	8925	reviewed	Enzyme modulator
Q15910	BXGT013612	Histone-lysine N-methyltransferase EZH2	2146	reviewed	Epigenetic regulator
Q6UX04	BXGT016571	Spliceosome-associated protein CWC27 homolog	10283	reviewed	Enzyme
Q7Z3B3	BXGT017249	KAT8 regulatory NSL complex subunit 1	284058	reviewed
Q8IWS0	BXGT018356	PHD finger protein 6	84295	reviewed	Nucleic acid binding
Q8WWQ0	BXGT019003	PH-interacting protein	55023	reviewed	Epigenetic regulator
Q96BT7	BXGT019628	Alkylated DNA repair protein alkB homolog 8	91801	reviewed
Q96BZ9	BXGT019629	TBC1 domain family member 20	128637	reviewed
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
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
Q9UKM7	BXGT021747	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	11253	reviewed	Chaperone
Q9Y4U1	BXGT022285	Methylmalonic aciduria and homocystinuria type C protein	25974	reviewed
Q9Y617	BXGT022314	Phosphoserine aminotransferase	29968	reviewed
Q92785	BXGT023424	Zinc finger protein ubi-d4	5977	reviewed	Enzyme
Q14657	BXGT024111	EKC/KEOPS complex subunit LAGE3	8270	reviewed
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
Q96L73	BXGT024676	Histone-lysine N-methyltransferase, H3 lysine-36 specific	64324	reviewed	Epigenetic regulator
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
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}