Showing entry for X-linked retinitis pigmentosa GTPase regulator-interacting protein 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT022801
Protein NameX-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Uniport IdQ96KN7
GeneRPGRIP1
Gene Id57096
DomainC2; C2-C2_1; RPGR1_C
Pfam PF00168   PF11618   PF18111  
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:0042462 eye photoreceptor cell development
Biological Process GO:0061351 neural precursor cell proliferation
Biological Process GO:0050896 response to stimulus
Biological Process GO:0060041 retina development in camera-type eye
Biological Process GO:0007601 visual perception
cellular component GO:0005930 axoneme
cellular component GO:0032391 photoreceptor connecting cilium
cellular component GO:0120206 photoreceptor distal connecting cilium
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002902 BXGD000154 Anencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009398 BXGD000604 Color vision defect Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0009714 BXGD000624 Hepatic Fibrosis, Congenital Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011269 BXGD000710 Dementia, Vascular Nervous System Diseases; Mental Disorders; Cardiovascular Diseases
C0014065 BXGD000884 Congenital cerebral hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0015397 BXGD000983 Disorder of eye Eye Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0022578 BXGD001557 Keratoconus Eye Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0028077 BXGD002069 Nyctalopia Eye Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0030283 BXGD002200 Pancreatic Cyst Digestive System Diseases; Neoplasms
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040412 BXGD002860 Fissured tongue Stomatognathic Diseases
C0042798 BXGD003003 Low Vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0152136 BXGD003548 Low Tension Glaucoma Eye Diseases
C0154860 BXGD003752 Hereditary retinal dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0155380 BXGD003791 Dissociated Nystagmus Eye Diseases; Nervous System Diseases
C0158683 BXGD003899 Polycystic liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
C0221365 BXGD004452 Double ureter
C0234629 BXGD004690 Abnormal color vision
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0238395 BXGD004922 Male Pseudohermaphroditism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0240595 BXGD005045 Rotary Nystagmus Eye Diseases; Nervous System Diseases
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0265215 BXGD005465 Meckel-Gruber syndrome Pathological Conditions, Signs and Symptoms
C0266361 BXGD005656 True Hermaphroditism (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266631 BXGD005703 Accessory spleen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0267952 BXGD005794 Fibrosis of pancreas Digestive System Diseases
C0271382 BXGD006190 Periodic Alternating Nystagmus Eye Diseases; Nervous System Diseases
C0271383 BXGD006191 Symptomatic Nystagmus Eye Diseases; Nervous System Diseases
C0271384 BXGD006192 Spontaneous Ocular Nystagmus Eye Diseases; Nervous System Diseases
C0271385 BXGD006193 Horizontal Nystagmus Eye Diseases; Nervous System Diseases
C0271386 BXGD006194 Vertical Nystagmus Eye Diseases; Nervous System Diseases
C0271387 BXGD006195 Rebound Nystagmus Eye Diseases; Nervous System Diseases
C0271388 BXGD006196 Pendular Nystagmus Eye Diseases; Nervous System Diseases
C0271389 BXGD006197 Jerk Nystagmus Eye Diseases; Nervous System Diseases
C0339527 BXGD007260 Leber Congenital Amaurosis Eye Diseases
C0339528 BXGD007261 X-linked retinitis pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0339573 BXGD007271 Glaucoma, Primary Open Angle Eye Diseases
C0344243 BXGD007660 See-Saw Nystagmus Eye Diseases; Nervous System Diseases
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0431362 BXGD008670 Lobar Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0431399 BXGD008684 Familial aplasia of the vermis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
C0431904 BXGD008713 Ulnar polydactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0476397 BXGD008991 Electroretinogram abnormal
C0520731 BXGD009104 Retraction Nystagmus Eye Diseases; Nervous System Diseases
C0521753 BXGD009171 Temporary Nystagmus Eye Diseases; Nervous System Diseases
C0521754 BXGD009172 Permanent Nystagmus Eye Diseases; Nervous System Diseases
C0521755 BXGD009173 Unidirectional Nystagmus Eye Diseases; Nervous System Diseases
C0521756 BXGD009174 Multidirectional Nystagmus Eye Diseases; Nervous System Diseases
C0521757 BXGD009175 Conjugate Nystagmus Eye Diseases; Nervous System Diseases
C0521759 BXGD009176 Convergence Nystagmus Eye Diseases; Nervous System Diseases
C0521760 BXGD009177 Fatigable Positional Nystagmus Eye Diseases; Nervous System Diseases
C0521761 BXGD009178 Non-Fatigable Positional Nystagmus Eye Diseases; Nervous System Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0600031 BXGD009681 Congenital absence of spleen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
C0687120 BXGD009837 Nephronophthisis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C0917796 BXGD011408 Optic Atrophy, Hereditary, Leber Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C1301937 BXGD012300 Talipes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1395852 BXGD012991 Polydactyly preaxial type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1610065 BXGD013445 Urethral atresia
C1837249 BXGD014210 Malformations of Cortical Development, Group II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1842876 BXGD014542 Depressed nasal ridge
C1853235 BXGD015318 Sclerocornea Eye Diseases
C1854260 BXGD015390 LEBER CONGENITAL AMAUROSIS 6 (disorder) Eye Diseases
C1855340 BXGD015490 Bowing of the long bones
C1855676 BXGD015528 Aplasia/Hypoplasia of the cerebellar vermis
C1855685 BXGD015531 Undetectable electroretinogram
C1855925 BXGD015561 Hyperopia, High Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1857679 BXGD015735 Sloping forehead
C1861866 BXGD016087 Aplasia/Hypoplasia of the corpus callosum
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1866231 BXGD016388 Full cheeks
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C1998028 BXGD016865 Photoreceptor degeneration Eye Diseases
C2112129 BXGD016921 Postaxial foot polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2750720 BXGD017673 Cone-Rod Dystrophy 13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C2931258 BXGD017991 Amaurosis congenita of Leber, type 1 Eye Diseases
C3278975 BXGD018749 Attenuation of retinal blood vessels
C3489532 BXGD018934 Cone-Rod Dystrophy 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3540662 BXGD019091 Congenital Amaurosis of Retinal Origin Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714506 BXGD019407 Meckel syndrome type 1 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C3714581 BXGD019415 Multicystic Dysplastic Kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3808249 BXGD019541 Abnormality of the optic disc
C4021570 BXGD020678 Undetectable light- and dark-adapted electroretinogram
C4023916 BXGD021275 Aplasia/Hypoplasia of the tongue
C4024748 BXGD021402 Aplasia/Hypoplasia of the iris
C4025844 BXGD021824 Abnormal chorioretinal morphology
C4072872 BXGD022008 obsolete Rod-cone dystrophy
C4085590 BXGD022119 Cone-Rod Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4277690 BXGD022377 Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C4316870 BXGD022707 Abnormality of the eye
C4551493 BXGD023318 Situs inversus totalis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4551631 BXGD023376 Cystic liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
C4551714 BXGD023398 Rod-Cone Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
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