AutismKB 2.0

Annotation Detail for INVS


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Basic Information Top
Gene Symbol:INVS ( INV,KIAA0573,MGC133080,MGC133081,NPH2,NPHP2 )
Gene Full Name: inversin
Band: 9q31.1
Quick LinksEntrez ID:27130; OMIM: 243305; Uniprot ID:INVS_HUMAN; ENSEMBL ID: ENSG00000119509; HGNC ID: 17870
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1705Retinitis pigmentosa
1883Polycystic kidney
1902Kidney failure
2159Hydrocephalus
No data
No data
Desease Name
Nephronophthisis 2, infantile
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of INVS mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of INVS mRNAdecreases expression 20106945
20064835
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of INVS mRNAincreases expression 17606305
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.8117505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4620464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4614692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.1211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9115885639
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9917474063 20146248
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2016919318 17333356 11677210 15861022 17681005 17110522 16105132
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6812540782 12705907 14550746 19739265 12392966 10915739 12594235 12958197 19923254 14725611 18713872 16781746 19085960 17906064 11743745 17522070 2444490 11421492 15619225 19416960 11529661 15968718 12153990 11461765 11739529 18071297 19420014 11287661 10774834 16109766 10663392 11834606 19164858 14986274 16393943 16227642 16177239 16081117 17562736 16485898 19370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.7712538720
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2915345470
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D007021 Hypospadias Ethinyl Estradiol 4.4616569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7617937319
MESH:D007674 Kidney Diseases Acetaminophen 2.4215629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.7119014921 12587719 19460945 11587558 19784758 16610002 12969438 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1720195826 21137059
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.576695378 18816296 20869020 18569708 18520028 20464547 20064080 17053015 20135361
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
OMIM:602088 NEPHRONOPHTHISIS 2 marker/mechanism
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D011537 Pruritus Ethinyl Estradiol 4.0516919318 15861022
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5419755658 10029692
MESH:D013088 Spermatocele Ethinyl Estradiol 4.8116709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
MESH:D014581 Urticaria Acetaminophen 3.5010982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0214671159 15869587
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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