adisease

Showing entry for Macrocephaly

General Disease Information
BXGD Id	BXGD004447
Disease Name	Macrocephaly
Disease CUI Id	C0221355
MeSH Codes	C16 C05 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000707
Human Phenotype Ontology Term	Abnormality of the nervous 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
O00329	BXGT003909	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	5293	reviewed	Kinase
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
O14788	BXGT004100	Tumor necrosis factor ligand superfamily member 11	8600	reviewed	Signaling
O15357	BXGT004156	Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2	3636	reviewed
O15394	BXGT004163	Neural cell adhesion molecule 2	4685	reviewed
O60488	BXGT004878	Long-chain-fatty-acid--CoA ligase 4	2182	reviewed	Enzyme
O60706	BXGT004896	ATP-binding cassette sub-family C member 9	10060	reviewed	Transporter
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
O75367	BXGT005117	Core histone macro-H2A.1	9555	reviewed	Nucleic acid binding
O75530	BXGT005135	Polycomb protein EED	8726	reviewed
O75899	BXGT005161	Gamma-aminobutyric acid type B receptor subunit 2	9568	reviewed	G-protein coupled receptor
O75909	BXGT005163	Cyclin-K	8812	reviewed	Enzyme modulator
O75914	BXGT005165	Serine/threonine-protein kinase PAK 3	5063	reviewed	Kinase
O76039	BXGT005171	Cyclin-dependent kinase-like 5	6792	reviewed	Kinase
O95166	BXGT005353	Gamma-aminobutyric acid receptor-associated protein	11337	reviewed	Cellular structure
O96007	BXGT005413	Molybdopterin synthase catalytic subunit	4338	reviewed
P00747	BXGT005639	Plasminogen	5340	reviewed	Enzyme
P01106	BXGT005730	Myc proto-oncogene protein	4609	reviewed	Transcription factor
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
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P07333	BXGT006602	Macrophage colony-stimulating factor 1 receptor	1436	reviewed	Kinase
P07686	BXGT006657	Beta-hexosaminidase subunit beta	3074	reviewed	Enzyme
P08236	BXGT006752	Beta-glucuronidase	2990	reviewed
P08754	BXGT006820	Guanine nucleotide-binding protein G(i) subunit alpha	2773	reviewed	Enzyme modulator
P10412	BXGT007566	Histone H1.4	3008	reviewed	Nucleic acid binding
P10827	BXGT007623	Thyroid hormone receptor alpha	7067	reviewed	Nuclear receptor
P11166	BXGT007661	Solute carrier family 2, facilitated glucose transporter member 1	6513	reviewed	Transporter
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P11926	BXGT007760	Ornithine decarboxylase	4953	reviewed	Enzyme
P12643	BXGT007830	Bone morphogenetic protein 2	650	reviewed	Signaling
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15291	BXGT008103	Beta-1,4-galactosyltransferase 1	2683	reviewed	Enzyme
P15848	BXGT008162	Arylsulfatase B	411	reviewed
P21359	BXGT008640	Neurofibromin	4763	reviewed	Enzyme modulator
P21589	BXGT008669	5'-nucleotidase	4907	reviewed	Enzyme
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22304	BXGT008752	Iduronate 2-sulfatase	3423	reviewed
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P30279	BXGT009415	G1/S-specific cyclin-D2	894	reviewed	Enzyme modulator
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P32004	BXGT009594	Neural cell adhesion molecule L1	3897	reviewed
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
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
P38117	BXGT010027	Electron transfer flavoprotein subunit beta	2109	reviewed	Enzyme
P39019	BXGT010082	40S ribosomal protein S19	6223	reviewed	Nucleic acid binding
P41229	BXGT010239	Lysine-specific demethylase 5C	8242	reviewed
P42263	BXGT010295	Glutamate receptor 3	2892	reviewed	Ion channel
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42338	BXGT010303	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	5291	reviewed	Kinase
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42575	BXGT010318	Caspase-2	835	reviewed	Enzyme
P45381	BXGT010460	Aspartoacylase	443	reviewed
P46108	BXGT010509	Adapter molecule crk	1398	reviewed
P48048	BXGT010610	ATP-sensitive inward rectifier potassium channel 1	3758	reviewed	Ion channel
P48736	BXGT010658	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	5294	reviewed	Kinase
P49748	BXGT010733	Very long-chain specific acyl-CoA dehydrogenase, mitochondrial	37	reviewed	Enzyme
P50052	BXGT010768	Type-2 angiotensin II receptor	186	reviewed	G-protein coupled receptor
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
P55263	BXGT011115	Adenosine kinase	132	reviewed	Kinase
P56524	BXGT011176	Histone deacetylase 4	9759	reviewed	Epigenetic regulator
P58335	BXGT011233	Anthrax toxin receptor 2	118429	reviewed	Receptor
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P62070	BXGT011404	Ras-related protein R-Ras2	22800	reviewed	Enzyme modulator
P63000	BXGT011481	Ras-related C3 botulinum toxin substrate 1	5879	reviewed	Enzyme modulator
P63092	BXGT011495	Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	2778	reviewed
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
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q06787	BXGT012890	Synaptic functional regulator FMR1	2332	reviewed	Nucleic acid binding
Q07820	BXGT012942	Induced myeloid leukemia cell differentiation protein Mcl-1	4170	reviewed	Signaling
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q10469	BXGT013200	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	4247	reviewed	Enzyme
Q12882	BXGT013276	Dihydropyrimidine dehydrogenase [NADP(+)]	1806	reviewed	Enzyme
Q13144	BXGT013317	Translation initiation factor eIF-2B subunit epsilon	8893	reviewed
Q13153	BXGT013319	Serine/threonine-protein kinase PAK 1	5058	reviewed	Kinase
Q13188	BXGT013324	Serine/threonine-protein kinase 3	6788	reviewed	Kinase
Q13509	BXGT013366	Tubulin beta-3 chain	10381	reviewed	Cellular structure
Q13555	BXGT013375	Calcium/calmodulin-dependent protein kinase type II subunit gamma	818	reviewed	Kinase
Q13627	BXGT013385	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	1859	reviewed	Kinase
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q14232	BXGT013457	Translation initiation factor eIF-2B subunit alpha	1967	reviewed
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q14623	BXGT013490	Indian hedgehog protein	3549	reviewed
Q14839	BXGT013509	Chromodomain-helicase-DNA-binding protein 4	1108	reviewed
Q15022	BXGT013523	Polycomb protein SUZ12	23512	reviewed	Nucleic acid binding
Q15233	BXGT013552	Non-POU domain-containing octamer-binding protein	4841	reviewed	Nucleic acid binding
Q15382	BXGT013563	GTP-binding protein Rheb	6009	reviewed	Enzyme modulator
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q15751	BXGT013593	Probable E3 ubiquitin-protein ligase HERC1	8925	reviewed	Enzyme modulator
Q15842	BXGT013607	ATP-sensitive inward rectifier potassium channel 8	3764	reviewed	Ion channel
Q15910	BXGT013612	Histone-lysine N-methyltransferase EZH2	2146	reviewed	Epigenetic regulator
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q6UX04	BXGT016571	Spliceosome-associated protein CWC27 homolog	10283	reviewed	Enzyme
Q7RTN6	BXGT017085	STE20-related kinase adapter protein alpha	92335	reviewed	Kinase
Q8IWS0	BXGT018356	PHD finger protein 6	84295	reviewed	Nucleic acid binding
Q8NBK3	BXGT018538	Formylglycine-generating enzyme	285362	reviewed
Q8NCM8	BXGT018548	Cytoplasmic dynein 2 heavy chain 1	79659	reviewed	Enzyme
Q8WZ19	BXGT019022	BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1	253980	reviewed
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q92796	BXGT019376	Disks large homolog 3	1741	reviewed
Q96BT7	BXGT019628	Alkylated DNA repair protein alkB homolog 8	91801	reviewed
Q96EQ8	BXGT019652	E3 ubiquitin-protein ligase RNF125	54941	reviewed
Q96P20	BXGT019704	NACHT, LRR and PYD domains-containing protein 3	114548	reviewed
Q9BR01	BXGT020115	Sulfotransferase 4A1	25830	reviewed
Q9BYW2	BXGT020192	Histone-lysine N-methyltransferase SETD2	29072	reviewed	Epigenetic regulator
Q9NRF2	BXGT021185	SH2B adapter protein 1	25970	reviewed
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q9NZN1	BXGT021279	Interleukin-1 receptor accessory protein-like 1	11141	reviewed	Receptor
Q9UBC3	BXGT021650	DNA (cytosine-5)-methyltransferase 3B	1789	reviewed
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q9UBV7	BXGT021665	Beta-1,4-galactosyltransferase 7	11285	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9UPY3	BXGT021802	Endoribonuclease Dicer	23405	reviewed	Enzyme
Q9Y243	BXGT022214	RAC-gamma serine/threonine-protein kinase	10000	reviewed	Kinase
Q9Y2H9	BXGT022234	Microtubule-associated serine/threonine-protein kinase 1	22983	reviewed	Kinase
Q9Y5B9	BXGT022291	FACT complex subunit SPT16	11198	reviewed	Transcription factor
Q9Y5X0	BXGT022305	Sorting nexin-10	29887	reviewed
Q9Y6K1	BXGT022331	DNA (cytosine-5)-methyltransferase 3A	1788	reviewed
Q15878	BXGT022659	Voltage-dependent R-type calcium channel subunit alpha-1E	777	reviewed	Ion channel
Q16134	BXGT022664	Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial	2110	reviewed	Enzyme
P00738	BXGT022874	Haptoglobin	3240	reviewed	Enzyme
Q01543	BXGT023137	Friend leukemia integration 1 transcription factor	2313	reviewed	Transcription factor
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
Q96L73	BXGT024676	Histone-lysine N-methyltransferase, H3 lysine-36 specific	64324	reviewed	Epigenetic regulator
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
Q96DA2	BXGT025522	Ras-related protein Rab-39B	116442	reviewed
Q05086	BXGT025648	Ubiquitin-protein ligase E3A	7337	reviewed
Q9P121	BXGT025711	Neurotrimin	50863	reviewed
Q7Z699	BXGT025789	Sprouty-related, EVH1 domain-containing protein 1	161742	reviewed	Receptor
P51798	BXGT026083	H(+)/Cl(-) exchange transporter 7	1186	reviewed	Ion channel
Q8WXI2	BXGT026145	Connector enhancer of kinase suppressor of ras 2	22866	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}