AutismKB 2.0

Annotation Detail for IFT122


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Basic Information Top
Gene Symbol:IFT122 ( CED,SPG,WDR10,WDR10p,WDR140 )
Gene Full Name: intraflagellar transport 122 homolog (Chlamydomonas)
Band: 3q21.3-q22.1
Quick LinksEntrez ID:55764; OMIM: 606045; Uniprot ID:IF122_HUMAN; ENSEMBL ID: ENSG00000163913; HGNC ID: 13556
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Cranioectodermal dysplasia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of IFT122 mRNAincreases expression 18648102
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of IFT122 mRNAdecreases expression 15336504
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of IFT122 mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.8911289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.847296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.949022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.9419176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4414531868 8156756 11906362 12868966 2524372 18759878 8970840 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.022952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.0518289764 7440962 18692083 9022650 9328219 16192314 6679447 8291058 1440618 11289319 9653073 18648102 6482804
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005234 Fatty Liver pirinixic acid 3.2519236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006529 Hepatomegaly pirinixic acid 3.6416221962 19176532 19772884 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.898074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4415034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9420007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.786587162 598648 1399818 3712494
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.613581430
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.186679447
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.876482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.868532709
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.226582329 3712494 7505956 6587162 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.418074119
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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