AutismKB 2.0

Annotation Detail for CSF2RA


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Basic Information Top
Gene Symbol:CSF2RA ( CD116,CDw116,CSF2R,CSF2RAX,CSF2RAY,CSF2RX,CSF2RY,GM-CSF-R-alpha,GMCSFR,GMR,MGC3848,MGC4838 )
Gene Full Name: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Band: Xp22.32 and Yp11.3
Quick LinksEntrez ID:1438; OMIM: 306250,425000; Uniprot ID:CSF2R_HUMAN; ENSEMBL ID: ENSG00000198223; HGNC ID: 2435
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04640Hematopoietic cell lineage
hsa04630Jak-STAT signaling pathway
hsa04060Cytokine-cytokine receptor interaction
hsa05200Pathways in cancer
Pathway IDPathway Name
Signaling in Immune system
Pathway IDPathway Name
200015GMCSF-mediated signaling events
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2069Schizophrenia
Desease Name
PSYCH
schizophrenia
Desease Name
Schizophrenia
Desease Name
Pulmonary alveolar proteinosis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CSF2RA mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of CSF2RA mRNAdecreases expression 19150397
D003907 Dexamethasone Dexamethasone results in increased expression of CSF2RA mRNAincreases expression 11758170
D004041 Dietary Fats Dietary Fats results in decreased expression of CSF2RA mRNAdecreases expression 18042831
D004958 Estradiol [Progesterone co-treated with Estradiol] results in increased expression of CSF2RA mRNAaffects cotreatment|increases expression 17404688
D004958 Estradiol Estradiol results in increased expression of CSF2RA mRNAincreases expression 12469912
C041786 palm oil palm oil results in decreased expression of CSF2RA mRNAdecreases expression 18042831
D011374 Progesterone [Progesterone co-treated with Estradiol] results in increased expression of CSF2RA mRNAaffects cotreatment|increases expression 17404688
D019772 Topotecan CSF2RA protein affects the susceptibility to Topotecanaffects response to substance 16217747
D015215 Zidovudine [IL3 protein co-treated with CSF2 protein] inhibits the reaction [Zidovudine results in decreased expression of CSF2RA mRNA]affects cotreatment|decreases expression|decreases reaction 12084393
D015215 Zidovudine Zidovudine results in decreased expression of CSF2RA mRNAdecreases expression 12084393
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000163 Acquired Immunodeficiency Syndrome Zidovudine 5.089612607
MESH:D000230 Adenocarcinoma Estradiol 2.1411473722
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Dietary Fats 4.1515238619
MESH:D001169 Arthritis, Experimental Dexamethasone 3.6617659584
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.6617868700
MESH:D001930 Brain Injuries Progesterone 4.5215845082 15380490 15665606
MESH:D001943 Breast Neoplasms Dietary Fats 1.9220435547
MESH:D001943 Breast Neoplasms Estradiol 1.9218497071 17289903 19861407 12948864 17018787 16675129 14630087 17261762
MESH:D001943 Breast Neoplasms Progesterone 1.9216175315 15562024 17614352
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.903084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 2.9016924424
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1020889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.1018566989
MESH:D003110 Colonic Neoplasms Dexamethasone 2.5215824018
MESH:D019465 Craniofacial Abnormalities Dexamethasone 2.2917728286
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 3.6612438553
MESH:D003928 Diabetic Nephropathies Estradiol 3.5919279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.7517187935
MESH:D003967 Diarrhea Dexamethasone 3.937237001
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6315968718 14550746 16781746 17562736 12705907 10663392 14725611 19370779 16109766 15619225 18071297 16393943 11743745 11529661 10915739 18713872 19739265 12392966 17906064 10774834 19416960 12540782 11461765 12153990 16177239 19420014 19085960 2444490 16081117 16485898 11739529 19923254 11287661 11421492 12594235 12958197 19164858 17522070 16227642 11834606 14986274
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Zidovudine 4.1515040536
MESH:D050171 Dyslipidemias Dietary Fats 3.6018367378
MESH:D004485 Eczema Dexamethasone 4.7012438553
MESH:D004487 Edema Dexamethasone 3.6019703484
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.0217692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.1118566989 11473722 19148513
MESH:D004715 Endometriosis Progesterone 3.9616134523
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005234 Fatty Liver Dietary Fats 8.8119551842 19004024 17967931 18296743
MESH:D005234 Fatty Liver Zidovudine 8.8118299183
MESH:D005355 Fibrosis Dietary Fats 3.7818296743
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006402 Hematologic Diseases Zidovudine 4.9312579204
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 3.137520565
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D015658 HIV Infections Zidovudine 3.5917358032 11141242 11698656 11363243 20032539
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8021332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.8321332399
MESH:D006973 Hypertension Dexamethasone 3.0017042910
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.6615869954
MESH:D007249 Inflammation Dexamethasone 9.0211099482 8960868
MESH:D007249 Inflammation Dietary Fats 9.0220412841
MESH:D007249 Inflammation Progesterone 9.0215869954
MESH:D007333 Insulin Resistance Dietary Fats 7.8018457598 11836018
MESH:D007333 Insulin Resistance Estradiol 7.8016393666 16627594
MESH:D007674 Kidney Diseases Acetaminophen 6.2512587719 15629191
MESH:D007674 Kidney Diseases Estradiol 6.2515618244
MESH:D007680 Kidney Neoplasms Estradiol 8.2415610895
MESH:D007680 Kidney Neoplasms Zidovudine 8.2412579204
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Zidovudine 4.6220370541
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9818296743
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 2.6916718785
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.6914716833 14659978
MESH:D008107 Liver Diseases Acetaminophen 1.6716610002 11587558 12969438 19784758 16611625 19014921 12587719 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008175 Lung Neoplasms Dexamethasone 2.9515824018 11195469
MESH:D008175 Lung Neoplasms Zidovudine 2.9518800350
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.4816891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.4817203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.8019453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D048629 Micronuclei, Chromosome-Defective Zidovudine 6.1617358032
MESH:D009101 Multiple Myeloma Dexamethasone 3.6516118317 15867202 15744524
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 3.659809623
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4416810080
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0217289903
MESH:D009421 Nervous System Malformations Estradiol 3.8916427766 11399458
MESH:D009447 Neuroblastoma Topotecan 3.9415176712
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity Dietary Fats 2.3320518802 21332399 18457598 18674790 17217161 20132043 16723640 11836018 19632207
MESH:D010051 Ovarian Neoplasms Estradiol 5.0519401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.0517393432 16525653
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.6521297632
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0920887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0516740699
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 4.2418379247 11700416
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9118045962
MESH:D013119 Spinal Cord Injuries Progesterone 4.5615862959 16503802
MESH:D013272 Stomach Diseases Dexamethasone 4.6015472012
MESH:D013274 Stomach Neoplasms Zidovudine 2.4817696246
MESH:D013276 Stomach Ulcer Dexamethasone 3.6915138204
OMIM:300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 marker/mechanism
MESH:D013978 Tibial Fractures Estradiol 5.0019048282
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014605 Uveitis Dexamethasone 5.131336536
MESH:D014625 Vaginal Neoplasms Zidovudine 5.0212579204
MESH:D015430 Weight Gain Dietary Fats 3.9216723640
Pathway ID Pathway Name
KEGG:04060 Cytokine-cytokine receptor interaction
KEGG:04640 Hematopoietic cell lineage
KEGG:04630 Jak-STAT signaling pathway
KEGG:05200 Pathways in cancer
REACT:6900 Signaling in Immune system
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00020 binder Sargramostim Antineoplastic Agents;Immunomodulatory Agents;Anti-Infective Agents
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Simple Query:


  (e.g. CHD8)

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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