AutismKB 2.0

Annotation Detail for CNTFR


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Basic Information Top
Gene Symbol:CNTFR ( MGC1774 )
Gene Full Name: ciliary neurotrophic factor receptor
Band: 9p13.3
Quick LinksEntrez ID:1271; OMIM: 118946; Uniprot ID:CNTFR_HUMAN; ENSEMBL ID: ENSG00000122756; HGNC ID: 2170
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04630Jak-STAT signaling pathway
hsa04060Cytokine-cytokine receptor interaction
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
NORMALVARIATION
body mass
muscle testing
METABOLIC
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CNTFR mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CNTFR mRNAaffects expression 16483693
D004958 Estradiol Estradiol results in increased expression of CNTFR mRNAincreases expression 20068009
D010634 Phenobarbital Phenobarbital affects the expression of CNTFR mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid affects the expression of CNTFR mRNAaffects expression 19136022
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.986195326
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.9817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.9816434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Estradiol 2.1119861407 18497071 17289903 14630087 17261762 17018787 12948864 16675129
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0016111702
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.783084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.7816924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.781701930 20935162 17173139 6705139 20007298
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Estradiol 3.0018566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.744080065
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.7419279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6611529661 16109766 12705907 19416960 10774834 10915739 10663392 11287661 19370779 19739265 16393943 18071297 18713872 11461765 16485898 15968718 12540782 16081117 17562736 17906064 12392966 11421492 16781746 17522070 14725611 19085960 12153990 19164858 11739529 2444490 11743745 16177239 14550746 12594235 11834606 12958197 16227642 19923254 19420014 15619225 14986274
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004421 Dystonia Phenobarbital 4.411851702
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D016889 Endometrial Neoplasms Estradiol 3.2019148513 11473722 18566989
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.593659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.4811558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0420417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.876401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.747750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.563659116
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly Phenobarbital 10.1416109766
MESH:D006529 Hepatomegaly pirinixic acid 10.1419176532 16221962 19772884 18467677
MESH:D006558 Herpes Genitalis Estradiol 5.6415709030
MESH:D019584 Hot Flashes Estradiol 4.3617088409
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007333 Insulin Resistance Estradiol 7.9216627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.9216306350
MESH:D007674 Kidney Diseases Acetaminophen 6.5015629191 12587719
MESH:D007674 Kidney Diseases Estradiol 6.5015618244
MESH:D007680 Kidney Neoplasms Estradiol 3.2815610895
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0721047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3814716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3815474484
MESH:D008107 Liver Diseases Acetaminophen 4.1711587558 19784758 19460945 16611625 19014921 12969438 16610002 12587719
MESH:D008107 Liver Diseases Phenobarbital 4.1719363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 4.8319812893 8742319 21047994 19482888 19073162 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 4.8315890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.9017172636 6150874 1399818 2563599 18308698
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7717203775 11807958 11408345 16891317
MESH:D020149 Manganese Poisoning Estradiol 5.0919453300
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 9.1716810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 9.1716411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.0217484760
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.2717289903
MESH:D009421 Nervous System Malformations Estradiol 4.0916427766 11399458
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010018 Osteomalacia Phenobarbital 4.9017016548
MESH:D010051 Ovarian Neoplasms Estradiol 2.3019401270
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5916965848
MESH:D011230 Precancerous Conditions Phenobarbital 3.952563599
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2620887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0316740699
MESH:D019310 Pseudolymphoma Phenobarbital 5.1112752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012640 Seizures Phenobarbital 2.9211442880 3137016 4039156 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.366407741
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.321399818
MESH:D013978 Tibial Fractures Estradiol 5.3019048282
MESH:D014581 Urticaria Acetaminophen 3.3810982225
Pathway ID Pathway Name
KEGG:04060 Cytokine-cytokine receptor interaction
KEGG:04630 Jak-STAT signaling pathway
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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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