adisease

Showing entry for Visual Impairment

General Disease Information
BXGD Id	BXGD019279
Disease Name	Visual Impairment
Disease CUI Id	C3665347
MeSH Codes	C23 C11 C10
Disease Class Name	Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Semantic Type	Finding
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
F7VJQ1	BXGT003310	Alternative prion protein	5621	reviewed
O00142	BXGT003883	Thymidine kinase 2, mitochondrial	7084	reviewed	Kinase
O00444	BXGT003921	Serine/threonine-protein kinase PLK4	10733	reviewed	Kinase
O00571	BXGT003938	ATP-dependent RNA helicase DDX3X	1654	reviewed
O00764	BXGT003948	Pyridoxal kinase	8566	reviewed	Kinase
O14764	BXGT004094	Gamma-aminobutyric acid receptor subunit delta	2563	reviewed	Ion channel
O14788	BXGT004100	Tumor necrosis factor ligand superfamily member 11	8600	reviewed	Signaling
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O60313	BXGT004871	Dynamin-like 120 kDa protein, mitochondrial	4976	reviewed	Enzyme modulator
O60840	BXGT004901	Voltage-dependent L-type calcium channel subunit alpha-1F	778	reviewed	Ion channel
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
O75306	BXGT005108	NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial	4720	reviewed	Enzyme
O75643	BXGT005142	U5 small nuclear ribonucleoprotein 200 kDa helicase	23020	reviewed
O95169	BXGT005356	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial	4714	reviewed	Enzyme
O95255	BXGT005363	Multidrug resistance-associated protein 6	368	reviewed	Transporter
O95278	BXGT005370	Laforin	7957	reviewed
O95477	BXGT005383	Phospholipid-transporting ATPase ABCA1	19	reviewed	Transporter
O95831	BXGT005399	Apoptosis-inducing factor 1, mitochondrial	9131	reviewed	Enzyme
P00156	BXGT005469	Cytochrome b	4519	reviewed
P00846	BXGT005674	ATP synthase subunit a	4508	reviewed	Transporter
P00918	BXGT005690	Carbonic anhydrase 2	760	reviewed
P01889	BXGT005809	HLA class I histocompatibility antigen, B-7 alpha chain	3106	reviewed
P01920	BXGT005817	HLA class II histocompatibility antigen, DQ beta 1 chain	3119	reviewed	Immune response
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02462	BXGT005881	Collagen alpha-1(IV) chain	1282	reviewed
P02766	BXGT005953	Transthyretin	7276	reviewed	Transporter
P03886	BXGT006108	NADH-ubiquinone oxidoreductase chain 1	4535	reviewed	Enzyme
P03891	BXGT006110	NADH-ubiquinone oxidoreductase chain 2	4536	reviewed
P03901	BXGT006112	NADH-ubiquinone oxidoreductase chain 4L	4539	reviewed	Enzyme
P03905	BXGT006113	NADH-ubiquinone oxidoreductase chain 4	4538	reviewed	Enzyme
P03915	BXGT006114	NADH-ubiquinone oxidoreductase chain 5	4540	reviewed	Enzyme
P03923	BXGT006115	NADH-ubiquinone oxidoreductase chain 6	4541	reviewed
P04156	BXGT006156	Major prion protein	5621	reviewed
P04180	BXGT006164	Phosphatidylcholine-sterol acyltransferase	3931	reviewed	Enzyme
P04350	BXGT006193	Tubulin beta-4A chain	10382	reviewed	Cellular structure
P04440	BXGT006216	HLA class II histocompatibility antigen, DP beta 1 chain	3115	reviewed	Immune response
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P06396	BXGT006435	Gelsolin	2934	reviewed	Cellular structure
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P09884	BXGT006937	DNA polymerase alpha catalytic subunit	5422	reviewed
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P12081	BXGT007772	Histidine--tRNA ligase, cytoplasmic	3035	reviewed	Enzyme
P12955	BXGT007865	Xaa-Pro dipeptidase	5184	reviewed	Enzyme
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P16410	BXGT008224	Cytotoxic T-lymphocyte protein 4	1493	reviewed
P17735	BXGT008335	Tyrosine aminotransferase	6898	reviewed
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P18850	BXGT008433	Cyclic AMP-dependent transcription factor ATF-6 alpha	22926	reviewed
P19367	BXGT008476	Hexokinase-1	3098	reviewed	Kinase
P19544	BXGT008494	Wilms tumor protein	7490	reviewed	Nucleic acid binding
P20839	BXGT008608	Inosine-5'-monophosphate dehydrogenase 1	3614	reviewed	Enzyme
P21579	BXGT008665	Synaptotagmin-1	6857	reviewed	Transporter
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22413	BXGT008764	Ectonucleotide pyrophosphatase/phosphodiesterase family member 1	5167	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
P24158	BXGT008951	Myeloblastin	5657	reviewed	Enzyme
P30533	BXGT009434	Alpha-2-macroglobulin receptor-associated protein	4043	reviewed
P31040	BXGT009503	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	6389	reviewed	Enzyme
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P39060	BXGT010088	Collagen alpha-1(XVIII) chain	80781	reviewed
P40337	BXGT010174	von Hippel-Lindau disease tumor suppressor	7428	reviewed	Enzyme
P41227	BXGT010238	N-alpha-acetyltransferase 10	8260	reviewed	Enzyme
P43080	BXGT010354	Guanylyl cyclase-activating protein 1	2978	reviewed
P45381	BXGT010460	Aspartoacylase	443	reviewed
P46937	BXGT010554	Transcriptional coactivator YAP1	10413	reviewed	Enzyme modulator
P48449	BXGT010632	Lanosterol synthase	4047	reviewed
P49585	BXGT010712	Choline-phosphate cytidylyltransferase A	5130	reviewed
P49638	BXGT010720	Alpha-tocopherol transfer protein	7274	reviewed	Transporter
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51157	BXGT010838	Ras-related protein Rab-28	9364	reviewed
P51160	BXGT010840	Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'	5146	reviewed
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
P52732	BXGT010948	Kinesin-like protein KIF11	3832	reviewed	Cellular structure
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P54098	BXGT011030	DNA polymerase subunit gamma-1	5428	reviewed	Enzyme
P55157	BXGT011108	Microsomal triglyceride transfer protein large subunit	4547	reviewed	Transporter
P60891	BXGT011337	Ribose-phosphate pyrophosphokinase 1	5631	reviewed	Kinase
P67775	BXGT011563	Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform	5515	reviewed
P68871	BXGT011615	Hemoglobin subunit beta	3043	reviewed
P82279	BXGT011972	Protein crumbs homolog 1	23418	reviewed
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q01726	BXGT012610	Melanocyte-stimulating hormone receptor	4157	reviewed	G-protein coupled receptor
Q01968	BXGT012626	Inositol polyphosphate 5-phosphatase OCRL-1	4952	reviewed	Enzyme
Q02763	BXGT012667	Angiopoietin-1 receptor	7010	reviewed	Kinase
Q02809	BXGT012674	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	5351	reviewed	Enzyme
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q06830	BXGT012894	Peroxiredoxin-1	5052	reviewed	Enzyme
Q12756	BXGT013261	Kinesin-like protein KIF1A	547	reviewed	Cellular structure
Q13303	BXGT013336	Voltage-gated potassium channel subunit beta-2	8514	reviewed	Ion channel
Q13394	BXGT013347	Putative nucleotidyltransferase MAB21L1	4081	reviewed
Q13402	BXGT013348	Unconventional myosin-VIIa	4647	reviewed	Cellular structure
Q13489	BXGT013364	Baculoviral IAP repeat-containing protein 3	330	reviewed	Enzyme modulator
Q13509	BXGT013366	Tubulin beta-3 chain	10381	reviewed	Cellular structure
Q13554	BXGT013374	Calcium/calmodulin-dependent protein kinase type II subunit beta	816	reviewed	Kinase
Q14643	BXGT013493	Inositol 1,4,5-trisphosphate receptor type 1	3708	reviewed	Ion channel
Q15582	BXGT013581	Transforming growth factor-beta-induced protein ig-h3	7045	reviewed	Signaling
Q15907	BXGT013611	Ras-related protein Rab-11B	9230	reviewed
Q16620	BXGT013645	BDNF/NT-3 growth factors receptor	4915	reviewed	Kinase
Q16678	BXGT013656	Cytochrome P450 1B1	1545	reviewed	Enzyme
Q16828	BXGT013676	Dual specificity protein phosphatase 6	1848	reviewed
Q495M9	BXGT014765	Usher syndrome type-1G protein	124590	reviewed
Q5JPH6	BXGT015456	Probable glutamate--tRNA ligase, mitochondrial	124454	reviewed	Enzyme
Q5Y7D3	BXGT015912	HLA class II histocompatibility antigen DQ beta chain	3119	unreviewed
Q6PCD5	BXGT016464	E3 ubiquitin-protein ligase RFWD3	55159	reviewed	Enzyme
Q86SX6	BXGT017601	Glutaredoxin-related protein 5, mitochondrial	51218	reviewed	Enzyme
Q86YC2	BXGT017633	Partner and localizer of BRCA2	79728	reviewed
Q8IWS0	BXGT018356	PHD finger protein 6	84295	reviewed	Nucleic acid binding
Q8IYD8	BXGT018367	Fanconi anemia group M protein	57697	reviewed	Enzyme
Q8NBK3	BXGT018538	Formylglycine-generating enzyme	285362	reviewed
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q92834	BXGT019381	X-linked retinitis pigmentosa GTPase regulator	6103	reviewed
Q96QU1	BXGT019721	Protocadherin-15	65217	reviewed
Q96S44	BXGT019738	EKC/KEOPS complex subunit TP53RK	112858	reviewed	Kinase
Q99714	BXGT019954	3-hydroxyacyl-CoA dehydrogenase type-2	3028	reviewed	Enzyme
Q99972	BXGT019979	Myocilin	4653	reviewed	Cellular structure
Q9BU61	BXGT020131	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3	25915	reviewed
Q9BV79	BXGT020141	Enoyl-[acyl-carrier-protein] reductase, mitochondrial	51102	reviewed
Q9BXJ0	BXGT020169	Complement C1q tumor necrosis factor-related protein 5	114902	reviewed
Q9H251	BXGT020449	Cadherin-23	64072	reviewed
Q9H6X2	BXGT020486	Anthrax toxin receptor 1	84168	reviewed	Receptor
Q9H8P0	BXGT020497	Polyprenol reductase	79644	reviewed
Q9HA77	BXGT020504	Probable cysteine--tRNA ligase, mitochondrial	79587	reviewed	Enzyme
Q9HC29	BXGT020526	Nucleotide-binding oligomerization domain-containing protein 2	64127	reviewed	Enzyme
Q9NPD8	BXGT021152	Ubiquitin-conjugating enzyme E2 T	29089	reviewed
Q9NPI8	BXGT021161	Fanconi anemia group F protein	2188	reviewed
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	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
Q9P2R7	BXGT021304	Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial	8803	reviewed	Enzyme
Q9UDY8	BXGT021670	Mucosa-associated lymphoid tissue lymphoma translocation protein 1	10892	reviewed	Enzyme
Q9UGJ1	BXGT021684	Gamma-tubulin complex component 4	27229	reviewed	Cellular structure
Q9UI95	BXGT021714	Mitotic spindle assembly checkpoint protein MAD2B	10459	reviewed
Q9UM47	BXGT021772	Neurogenic locus notch homolog protein 3	4854	reviewed
Q9Y2R2	BXGT022243	Tyrosine-protein phosphatase non-receptor type 22	26191	reviewed
Q9Y4D7	BXGT022275	Plexin-D1	23129	reviewed
Q9Y4U1	BXGT022285	Methylmalonic aciduria and homocystinuria type C protein	25974	reviewed
Q9Y5X0	BXGT022305	Sorting nexin-10	29887	reviewed
Q9Y6K9	BXGT022333	NF-kappa-B essential modulator	8517	reviewed	Kinase
Q9Y6N9	BXGT022337	Harmonin	10083	reviewed	Cellular structure
P04439	BXGT022649	HLA class I histocompatibility antigen, A-3 alpha chain	3105	reviewed
Q7Z3S7	BXGT022658	Voltage-dependent calcium channel subunit alpha-2/delta-4	93589	reviewed	Ion channel
P20036	BXGT022764	HLA class II histocompatibility antigen, DP alpha 1 chain	3113	reviewed	Immune response
Q96KN7	BXGT022801	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	57096	reviewed	Enzyme modulator
P43146	BXGT022852	Netrin receptor DCC	1630	reviewed
P35240	BXGT022927	Merlin	4771	reviewed
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
P07954	BXGT023939	Fumarate hydratase, mitochondrial	2271	reviewed	Enzyme
Q6P4Q7	BXGT024061	Metal transporter CNNM4	26504	reviewed
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
Q13432	BXGT024144	Protein unc-119 homolog A	9094	reviewed	Receptor
Q96JJ3	BXGT024291	Engulfment and cell motility protein 2	63916	reviewed	Signaling
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
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed
P35250	BXGT025854	Replication factor C subunit 2	5982	reviewed	Enzyme
P51798	BXGT026083	H(+)/Cl(-) exchange transporter 7	1186	reviewed	Ion channel

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}