adisease

Showing entry for Microphthalmos

General Disease Information
BXGD Id	BXGD001886
Disease Name	Microphthalmos
Disease CUI Id	C0026010
MeSH Codes	C16 C11
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000478
Human Phenotype Ontology Term	Abnormality of the eye
Disease Ontology Id	DOID:7
Disease Ontology Class Name	disease of anatomical entity
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
O00444	BXGT003921	Serine/threonine-protein kinase PLK4	10733	reviewed	Kinase
O14832	BXGT004104	Phytanoyl-CoA dioxygenase, peroxisomal	5264	reviewed
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O43293	BXGT004584	Death-associated protein kinase 3	1613	reviewed	Kinase
O43683	BXGT004614	Mitotic checkpoint serine/threonine-protein kinase BUB1	699	reviewed	Kinase
O60566	BXGT004884	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta	701	reviewed	Kinase
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
O95267	BXGT005368	RAS guanyl-releasing protein 1	10125	reviewed	Enzyme modulator
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01189	BXGT005742	Pro-opiomelanocortin	5443	reviewed
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P02462	BXGT005881	Collagen alpha-1(IV) chain	1282	reviewed
P02753	BXGT005945	Retinol-binding protein 4	5950	reviewed	Transporter
P04271	BXGT006177	Protein S100-B	6285	reviewed	Calcium-binding protein
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P07437	BXGT006624	Tubulin beta chain	203068	reviewed	Cellular structure
P07477	BXGT006629	Trypsin-1	5644	reviewed	Enzyme
P07741	BXGT006666	Adenine phosphoribosyltransferase	353	reviewed
P08151	BXGT006731	Zinc finger protein GLI1	2735	reviewed
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P08473	BXGT006773	Neprilysin	4311	reviewed	Enzyme
P08581	BXGT006794	Hepatocyte growth factor receptor	4233	reviewed	Kinase
P09038	BXGT006851	Fibroblast growth factor 2	2247	reviewed	Signaling
P10070	BXGT007534	Zinc finger protein GLI2	2736	reviewed
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P10721	BXGT007605	Mast/stem cell growth factor receptor Kit	3815	reviewed	Kinase
P10826	BXGT007622	Retinoic acid receptor beta	5915	reviewed	Nuclear receptor
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P11802	BXGT007750	Cyclin-dependent kinase 4	1019	reviewed	Kinase
P13224	BXGT007890	Platelet glycoprotein Ib beta chain	2812	reviewed
P14210	BXGT007994	Hepatocyte growth factor	3082	reviewed	Enzyme
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P14780	BXGT008053	Matrix metalloproteinase-9	4318	reviewed	Enzyme
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15144	BXGT008087	Aminopeptidase N	290	reviewed	Enzyme
P17643	BXGT008323	5,6-dihydroxyindole-2-carboxylic acid oxidase	7306	reviewed	Enzyme
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P18146	BXGT008384	Early growth response protein 1	1958	reviewed	Nucleic acid binding
P18848	BXGT008432	Cyclic AMP-dependent transcription factor ATF-4	468	reviewed
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P23297	BXGT008848	Protein S100-A1	6271	reviewed	Calcium-binding protein
P24941	BXGT009002	Cyclin-dependent kinase 2	1017	reviewed	Kinase
P28907	BXGT009301	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	952	reviewed	Enzyme
P30153	BXGT009409	Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform	5518	reviewed	Enzyme
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P36955	BXGT009946	Pigment epithelium-derived factor	5176	reviewed	Enzyme modulator
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P40967	BXGT010212	Melanocyte protein PMEL	6490	reviewed	Signaling
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
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P46527	BXGT010525	Cyclin-dependent kinase inhibitor 1B	1027	reviewed
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P46937	BXGT010554	Transcriptional coactivator YAP1	10413	reviewed	Enzyme modulator
P47895	BXGT010593	Aldehyde dehydrogenase family 1 member A3	220	reviewed	Enzyme
P49792	BXGT010743	E3 SUMO-protein ligase RanBP2	5903	reviewed	Enzyme modulator
P51159	BXGT010839	Ras-related protein Rab-27A	5873	reviewed
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
P52732	BXGT010948	Kinesin-like protein KIF11	3832	reviewed	Cellular structure
P53673	BXGT011010	Beta-crystallin A4	1413	reviewed
P53779	BXGT011014	Mitogen-activated protein kinase 10	5602	reviewed	Kinase
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P82279	BXGT011972	Protein crumbs homolog 1	23418	reviewed
Q00604	BXGT012538	Norrin	4693	reviewed
Q00987	BXGT012559	E3 ubiquitin-protein ligase Mdm2	4193	reviewed	Nucleic acid binding
Q01094	BXGT012568	Transcription factor E2F1	1869	reviewed	Nucleic acid binding
Q01968	BXGT012626	Inositol polyphosphate 5-phosphatase OCRL-1	4952	reviewed	Enzyme
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q12882	BXGT013276	Dihydropyrimidine dehydrogenase [NADP(+)]	1806	reviewed	Enzyme
Q13467	BXGT013358	Frizzled-5	7855	reviewed	G-protein coupled receptor
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q13627	BXGT013385	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	1859	reviewed	Kinase
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q14494	BXGT013474	Endoplasmic reticulum membrane sensor NFE2L1	4779	reviewed	Enzyme
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15465	BXGT013573	Sonic hedgehog protein	6469	reviewed
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q16678	BXGT013656	Cytochrome P450 1B1	1545	reviewed	Enzyme
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q53EZ4	BXGT015010	Centrosomal protein of 55 kDa	55165	reviewed
Q5NUL3	BXGT015621	Free fatty acid receptor 4	338557	reviewed
Q6NUK1	BXGT016429	Calcium-binding mitochondrial carrier protein SCaMC-1	29957	reviewed	Transporter
Q6PCD5	BXGT016464	E3 ubiquitin-protein ligase RFWD3	55159	reviewed	Enzyme
Q71U36	BXGT016705	Tubulin alpha-1A chain	7846	reviewed	Cellular structure
Q86YC2	BXGT017633	Partner and localizer of BRCA2	79728	reviewed
Q8IYD8	BXGT018367	Fanconi anemia group M protein	57697	reviewed	Enzyme
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q92859	BXGT019386	Neogenin	4756	reviewed
Q96BZ9	BXGT019629	TBC1 domain family member 20	128637	reviewed
Q99828	BXGT019967	Calcium and integrin-binding protein 1	10519	reviewed
Q99835	BXGT019969	Smoothened homolog	6608	reviewed	G-protein coupled receptor
Q9HD67	BXGT020544	Unconventional myosin-X	4651	reviewed
Q9NP58	BXGT021143	ATP-binding cassette sub-family B member 6, mitochondrial	10058	reviewed	Transporter
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
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
Q9NW38	BXGT021230	E3 ubiquitin-protein ligase FANCL	55120	reviewed	Enzyme
Q9NX14	BXGT021242	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial	54539	reviewed	Enzyme
Q9NZN9	BXGT021280	Aryl-hydrocarbon-interacting protein-like 1	23746	reviewed	Chaperone
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q9UGJ1	BXGT021684	Gamma-tubulin complex component 4	27229	reviewed	Cellular structure
Q9UI95	BXGT021714	Mitotic spindle assembly checkpoint protein MAD2B	10459	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9Y6K9	BXGT022333	NF-kappa-B essential modulator	8517	reviewed	Kinase
Q96KN7	BXGT022801	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	57096	reviewed	Enzyme modulator
O60493	BXGT023036	Sorting nexin-3	8724	reviewed
Q16254	BXGT023368	Transcription factor E2F4	1874	reviewed	Nucleic acid binding
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
P56703	BXGT023722	Proto-oncogene Wnt-3	7473	reviewed	Signaling
P07954	BXGT023939	Fumarate hydratase, mitochondrial	2271	reviewed	Enzyme
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
O95140	BXGT024482	Mitofusin-2	9927	reviewed	Enzyme
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
Q9H0W8	BXGT024746	Protein SMG9	56006	reviewed
A6NHR9	BXGT024875	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	23347	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed
P07315	BXGT026109	Gamma-crystallin C	1420	reviewed
P19532	BXGT026110	Transcription factor E3	7030	reviewed
P43320	BXGT026151	Beta-crystallin B2	1415	reviewed
P02489	BXGT026168	Alpha-crystallin A chain	1409	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}