adisease

Showing entry for Optic Atrophy 1

General Disease Information
BXGD Id	BXGD007196
Disease Name	Optic Atrophy 1
Disease CUI Id	C0338508
MeSH Codes	C16 C18 C11 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:7
Disease Ontology Class Name	genetic disease; 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
O00429	BXGT003919	Dynamin-1-like protein	10059	reviewed	Enzyme modulator
O43280	BXGT004582	Trehalase	11181	reviewed
O60240	BXGT004860	Perilipin-1	5346	reviewed
O60313	BXGT004871	Dynamin-like 120 kDa protein, mitochondrial	4976	reviewed	Enzyme modulator
O94811	BXGT005336	Tubulin polymerization-promoting protein	11076	reviewed	Cellular structure
P00441	BXGT005540	Superoxide dismutase [Cu-Zn]	6647	reviewed	Enzyme
P01106	BXGT005730	Myc proto-oncogene protein	4609	reviewed	Transcription factor
P02818	BXGT005969	Osteocalcin	632	reviewed
P07384	BXGT006619	Calpain-1 catalytic subunit	823	reviewed	Enzyme
P08574	BXGT006792	Cytochrome c1, heme protein, mitochondrial	1537	reviewed
P09488	BXGT006899	Glutathione S-transferase Mu 1	2944	reviewed
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P11308	BXGT007684	Transcriptional regulator ERG	2078	reviewed	Transcription factor
P12830	BXGT007852	Cadherin-1	999	reviewed
P13688	BXGT007943	Carcinoembryonic antigen-related cell adhesion molecule 1	634	reviewed
P13866	BXGT007963	Sodium/glucose cotransporter 1	6523	reviewed	Transporter
P15309	BXGT008105	Prostatic acid phosphatase	55	reviewed	Enzyme
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P17252	BXGT008294	Protein kinase C alpha type	5578	reviewed	Kinase
P19404	BXGT008477	NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial	4729	reviewed
P20810	BXGT008602	Calpastatin	831	reviewed
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P29323	BXGT009334	Ephrin type-B receptor 2	2048	reviewed	Kinase
P29474	BXGT009352	Nitric oxide synthase, endothelial	4846	reviewed
P30613	BXGT009447	Pyruvate kinase PKLR	5313	reviewed	Kinase
P30711	BXGT009460	Glutathione S-transferase theta-1	2952	reviewed
P31040	BXGT009503	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	6389	reviewed	Enzyme
P34972	BXGT009779	Cannabinoid receptor 2	1269	reviewed	G-protein coupled receptor
P36551	BXGT009927	Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial	1371	reviewed	Enzyme
P37231	BXGT009972	Peroxisome proliferator-activated receptor gamma	5468	reviewed	Nuclear receptor
P38936	BXGT010074	Cyclin-dependent kinase inhibitor 1	1026	reviewed
P43652	BXGT010405	Afamin	173	reviewed	Transporter
P46937	BXGT010554	Transcriptional coactivator YAP1	10413	reviewed	Enzyme modulator
P46939	BXGT010555	Utrophin	7402	reviewed
P54646	BXGT011062	5'-AMP-activated protein kinase catalytic subunit alpha-2	5563	reviewed	Kinase
P80188	BXGT011882	Neutrophil gelatinase-associated lipocalin	3934	reviewed	Enzyme
Q13131	BXGT013314	5'-AMP-activated protein kinase catalytic subunit alpha-1	5562	reviewed	Kinase
Q13336	BXGT013343	Urea transporter 1	6563	reviewed	Transporter
Q13501	BXGT013365	Sequestosome-1	8878	reviewed
Q14145	BXGT013448	Kelch-like ECH-associated protein 1	9817	reviewed
Q14457	BXGT013472	Beclin-1	8678	reviewed	Enzyme modulator
Q14469	BXGT013473	Transcription factor HES-1	3280	reviewed	Transcription factor
Q14494	BXGT013474	Endoplasmic reticulum membrane sensor NFE2L1	4779	reviewed	Enzyme
Q15078	BXGT013534	Cyclin-dependent kinase 5 activator 1	8851	reviewed	Enzyme modulator
Q15717	BXGT013589	ELAV-like protein 1	1994	reviewed
Q16236	BXGT013624	Nuclear factor erythroid 2-related factor 2	4780	reviewed	Enzyme
Q16595	BXGT013643	Frataxin, mitochondrial	2395	reviewed	Enzyme
Q16678	BXGT013656	Cytochrome P450 1B1	1545	reviewed	Enzyme
Q7Z2E3	BXGT017246	Aprataxin	54840	reviewed	Nucleic acid binding
Q86TW2	BXGT017609	Uncharacterized aarF domain-containing protein kinase 1	57143	reviewed	Kinase
Q8IWA4	BXGT018353	Mitofusin-1	55669	reviewed	Enzyme
Q8NE86	BXGT018552	Calcium uniporter protein, mitochondrial	90550	reviewed	Ion channel
Q96HS1	BXGT019672	Serine/threonine-protein phosphatase PGAM5, mitochondrial	192111	reviewed
Q99623	BXGT019941	Prohibitin-2	11331	reviewed
Q99798	BXGT019962	Aconitate hydratase, mitochondrial	50	reviewed	Enzyme
Q9BXM7	BXGT020172	Serine/threonine-protein kinase PINK1, mitochondrial	65018	reviewed	Kinase
Q9H0R8	BXGT020441	Gamma-aminobutyric acid receptor-associated protein-like 1	23710	reviewed	Cellular structure
Q9NTG7	BXGT021211	NAD-dependent protein deacetylase sirtuin-3, mitochondrial	23410	reviewed	Epigenetic regulator
Q9NZQ7	BXGT021281	Programmed cell death 1 ligand 1	29126	reviewed	Receptor
Q9UIK4	BXGT021720	Death-associated protein kinase 2	23604	reviewed	Kinase
Q9Y3D6	BXGT022257	Mitochondrial fission 1 protein	51024	reviewed
Q9Y478	BXGT022271	5'-AMP-activated protein kinase subunit beta-1	5564	reviewed	Kinase
P49619	BXGT022669	Diacylglycerol kinase gamma	1608	reviewed	Enzyme
Q9GZQ8	BXGT023414	Microtubule-associated proteins 1A/1B light chain 3B	81631	reviewed	Cellular structure
Q9H5Q4	BXGT023970	Dimethyladenosine transferase 2, mitochondrial	64216	reviewed
O95140	BXGT024482	Mitofusin-2	9927	reviewed	Enzyme
P16104	BXGT024571	Histone H2AX	3014	reviewed	Nucleic acid binding
O43583	BXGT024866	Density-regulated protein	8562	reviewed	Enzyme
Q12888	BXGT024878	TP53-binding protein 1	7158	reviewed	Epigenetic regulator
Q04837	BXGT025484	Single-stranded DNA-binding protein, mitochondrial	6742	reviewed	Nucleic acid binding

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}