adisease

Showing entry for Coloboma of iris

General Disease Information
BXGD Id	BXGD005015
Disease Name	Coloboma of iris
Disease CUI Id	C0240063
MeSH Codes	C16 C11
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic Type	Anatomical Abnormality
Human Phenotype Ontology Id	HP:0000478
Human Phenotype Ontology Term	Abnormality of the eye
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
O96028	BXGT005417	Histone-lysine N-methyltransferase NSD2	7468	reviewed	Epigenetic regulator
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P02462	BXGT005881	Collagen alpha-1(IV) chain	1282	reviewed
P02753	BXGT005945	Retinol-binding protein 4	5950	reviewed	Transporter
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P10070	BXGT007534	Zinc finger protein GLI2	2736	reviewed
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P16157	BXGT008203	Ankyrin-1	286	reviewed
P21333	BXGT008638	Filamin-A	2316	reviewed
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P41227	BXGT010238	N-alpha-acetyltransferase 10	8260	reviewed	Enzyme
P46937	BXGT010554	Transcriptional coactivator YAP1	10413	reviewed	Enzyme modulator
P50281	BXGT010788	Matrix metalloproteinase-14	4323	reviewed	Enzyme
P53673	BXGT011010	Beta-crystallin A4	1413	reviewed
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P63261	BXGT011512	Actin, cytoplasmic 2	71	reviewed	Cellular structure
P98164	BXGT012230	Low-density lipoprotein receptor-related protein 2	4036	reviewed
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q15465	BXGT013573	Sonic hedgehog protein	6469	reviewed
Q4KMG0	BXGT014850	Cell adhesion molecule-related/down-regulated by oncogenes	50937	reviewed
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q96F46	BXGT019656	Interleukin-17 receptor A	23765	reviewed
Q99835	BXGT019969	Smoothened homolog	6608	reviewed	G-protein coupled receptor
Q99972	BXGT019979	Myocilin	4653	reviewed	Cellular structure
Q9H8P0	BXGT020497	Polyprenol reductase	79644	reviewed
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q9NX14	BXGT021242	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial	54539	reviewed	Enzyme
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UHX1	BXGT021707	Poly(U)-binding-splicing factor PUF60	22827	reviewed
Q9UM47	BXGT021772	Neurogenic locus notch homolog protein 3	4854	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q01543	BXGT023137	Friend leukemia integration 1 transcription factor	2313	reviewed	Transcription factor
P56703	BXGT023722	Proto-oncogene Wnt-3	7473	reviewed	Signaling
Q15583	BXGT024027	Homeobox protein TGIF1	7050	reviewed	Enzyme
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
A6NHR9	BXGT024875	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	23347	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
P07315	BXGT026109	Gamma-crystallin C	1420	reviewed
P07320	BXGT026150	Gamma-crystallin D	1421	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}