Showing entry for Norrin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT012538
Protein NameNorrin
Uniport IdQ00604
GeneNDP
Gene Id4693
DomainCys_knot
Pfam PF00007  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0035426 extracellular matrix-cell signaling
Biological Process GO:0007399 nervous system development
Biological Process GO:0110135 Norrin signaling pathway
Biological Process GO:0001890 placenta development
Biological Process GO:0051091 positive regulation of DNA-binding transcription factor activity
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0061299 retina vasculature morphogenesis in camera-type eye
Biological Process GO:0007033 vacuole organization
Biological Process GO:0007601 visual perception
Biological Process GO:0016055 Wnt signaling pathway
molecular function GO:0005125 cytokine activity
molecular function GO:0005109 frizzled binding
molecular function GO:0042803 protein homodimerization activity
cellular component GO:0009986 cell surface
cellular component GO:0062023 collagen-containing extracellular matrix
cellular component GO:0031012 extracellular matrix
cellular component GO:0005615 extracellular space
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004608 BXGD000280 Retinopathy background Eye Diseases
C0005754 BXGD000334 Congenital blindness Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011253 BXGD000706 Delusions Behavior and Behavior Mechanisms
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013581 BXGD000855 Ectopia Lentis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0015397 BXGD000983 Disorder of eye Eye Diseases
C0015414 BXGD000989 Eye Neoplasms Neoplasms; Eye Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0017601 BXGD001125 Glaucoma Eye Diseases
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0022107 BXGD001530 Irritable Mood Behavior and Behavior Mechanisms
C0024440 BXGD001774 Macular Edema, Cystoid Eye Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027686 BXGD002021 Pathologic Neovascularization Pathological Conditions, Signs and Symptoms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035313 BXGD002532 Retinal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035320 BXGD002535 Retinal Neovascularization Pathological Conditions, Signs and Symptoms; Eye Diseases
C0035333 BXGD002538 Retinitis Eye Diseases
C0035344 BXGD002541 Retinopathy of Prematurity Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0042143 BXGD002964 Uterine Rupture Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries
C0042373 BXGD002978 Vascular Diseases Cardiovascular Diseases
C0042485 BXGD002985 Venous Insufficiency Cardiovascular Diseases
C0042798 BXGD003003 Low Vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0042909 BXGD003013 Vitreous Hemorrhage Pathological Conditions, Signs and Symptoms; Eye Diseases
C0085271 BXGD003148 Self-Injurious Behavior Behavior and Behavior Mechanisms
C0086543 BXGD003294 Cataract Eye Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152421 BXGD003586 Macrotia
C0154828 BXGD003745 Traction detachment of retina Eye Diseases
C0154832 BXGD003747 Exudative retinopathy Eye Diseases; Cardiovascular Diseases
C0154874 BXGD003753 Neuroretinitis Eye Diseases
C0154936 BXGD003758 Pupillary abnormality Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0229197 BXGD004484 Retinal fold (finding)
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0266526 BXGD005687 Norrie disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0266559 BXGD005694 Persistent primary vitreous Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266568 BXGD005695 Persistent Hyperplastic Primary Vitreous Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0271051 BXGD006153 Macular retinal edema Eye Diseases
C0271055 BXGD006154 Rhegmatogenous retinal detachment Eye Diseases
C0271178 BXGD006168 Irvine-Gass Syndrome Eye Diseases
C0271183 BXGD006169 Severe myopia Eye Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0282607 BXGD006818 Vascular Neoplasms Neoplasms; Cardiovascular Diseases
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0339383 BXGD007245 Choroidal and/or chorioretinal disorder Eye Diseases
C0339539 BXGD007265 Familial Exudative Vitreoretinopathy
C0344290 BXGD007662 Vitreoretinal degeneration
C0344539 BXGD007690 Hypoplasia of iris Eye Diseases
C0344550 BXGD007694 Congenital retinal fold
C0344559 BXGD007695 Irido-corneo-trabecular dysgenesis (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0423250 BXGD008476 Corneal stromal opacities Eye Diseases
C0423276 BXGD008477 Shallow anterior chamber of eye
C0423431 BXGD008486 Subretinal exudate
C0424503 BXGD008532 Dysmorphic facies
C0424711 BXGD008541 Orbital separation diminished
C0426501 BXGD008570 Short frenulum of tongue
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0578038 BXGD009542 Thin lips
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0700201 BXGD009880 Dyssomnias Nervous System Diseases; Mental Disorders
C0750927 BXGD010254 Apraxia, Developmental Verbal Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0795841 BXGD010746 Jacobsen Distal 11q Deletion Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0851578 BXGD010925 Sleep Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0856975 BXGD011127 Autistic behavior Behavior and Behavior Mechanisms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1836830 BXGD014165 Developmental regression Mental Disorders
C1843517 BXGD014593 Retinal arteriolar tortuosity
C1844579 BXGD014648 Exudative Vitreoretinopathy, Familial, X-Linked Recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1845977 BXGD014769 X- linked recessive
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1853235 BXGD015318 Sclerocornea Eye Diseases
C1855285 BXGD015483 Protruding ear
C1856660 BXGD015629 Abnormality of the helix
C1857299 BXGD015693 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL Eye Diseases
C1858085 BXGD015770 Malar flattening
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2677299 BXGD017370 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C2700617 BXGD017474 Irritation - emotion Behavior and Behavior Mechanisms
C3152182 BXGD018461 Anterior chamber anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3887898 BXGD019926 Infantile Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4016494 BXGD020341 EXUDATIVE VITREORETINOPATHY, X-LINKED
C4022003 BXGD020865 Erectile abnormalities
C4023616 BXGD021229 Abnormality of immune system physiology
C4023752 BXGD021258 Abnormality of the diencephalon
C4024738 BXGD021398 Aplasia/Hypoplasia of the lens
C4024748 BXGD021402 Aplasia/Hypoplasia of the iris
C4024758 BXGD021406 Intraretinal exudate
C4024788 BXGD021417 Anterior chamber synechiae
C4024811 BXGD021427 Peripheral vitreous opacities
C4025844 BXGD021824 Abnormal chorioretinal morphology
C4025858 BXGD021832 Abnormal cochlea morphology
C4072980 BXGD022028 Exudative vitreoretinopathy
C4520679 BXGD023033 Abnormal macular morphology Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4551564 BXGD023352 Narrow nasal bridge
C4551583 BXGD023361 Cerebral cortical atrophy
C4552810 BXGD023525 Irritability, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
BXGC0006198 Citric acid 192.12
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein