CSF2, colony stimulating factor 2, 1437

N. diseases: 1028; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1426039367
rs1426039367
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis. 11717358 2001
dbSNP: rs1426039367
rs1426039367
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C4024896
Disease:
Motor neuron atrophy
0.020 GeneticVariation BEFREE We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis. 11717358 2001
dbSNP: rs1426039367
rs1426039367
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C4024896
Disease:
Motor neuron atrophy
0.020 GeneticVariation BEFREE We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis. 16382787 2005
dbSNP: rs1426039367
rs1426039367
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE To comparatively evaluate the therapeutic potentials of human bone marrow-derived mesodermal stromal cells (hMSCs) and umbilical cord blood cells (hUBCs) in ALS, we transplanted hMSCs and hUBCs and their neuroectodermal derivatives (hMSC-NSCs and hUBC-NSCs) into the ALS mouse model over-expressing the G93A mutant of the human SOD1 gene. 17510731 2007
dbSNP: rs25882
rs25882
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE In two large study populations of children, the German part of the International Study of Asthma and Allergy in Childhood (ISAAC II) and the German Multicentre Atopy Study (MAS), 3099 and 824 children, seven polymorphisms previously associated with the development of atopic diseases were genotyped: two in and around the GM-CSF gene (Ile117Thr and T3085G), one in IL-3 (Pro27Ser), in IL-5 (C-746T), and in the IL-5 high affinity receptor chain IL-5R (G-80A) and two in the common receptor chain CSFR2b for IL-3, IL-5, and GM-CSF (Asp312Asn and Glu249Gln). 17362254 2007
dbSNP: rs747762300
rs747762300
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0024517
Disease:
Major depression, single episode
0.010 GeneticVariation BEFREE 343 subjects (Caucasian, African-American, Hispanic) presenting with a Major Depressive Episode were genotyped for polymorphisms A218C in intron 7 and A-6526G in the promoter region of TPH1, and monitored for suicide attempts for up to one year. 18977032 2009
dbSNP: rs1426039367
rs1426039367
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE In the SOD1 Gly93Ala rat model of amyotrophic lateral sclerosis, the antisense oligonucleotide ISIS 333611 delivered to CSF decreased SOD1 mRNA and protein concentrations in spinal cord tissue and prolonged survival. 23541756 2013
dbSNP: rs753438778
rs753438778
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease
0.010 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862 2013
dbSNP: rs753438778
rs753438778
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease
0.010 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862 2013
dbSNP: rs25884
rs25884
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0200638
Disease:
Eosinophil count procedure
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs25884
rs25884
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0200641
Disease:
Blood basophil count (lab test)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1426039367
rs1426039367
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE In the SOD1(G93A) mutant rat model of amyotrophic lateral sclerosis (ALS), neuronal death and rapid paralysis progression are associated with the emergence of activated aberrant glial cells that proliferate in the degenerating spinal cord. 27400786 2016
dbSNP: rs1469149
rs1469149
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs25882
rs25882
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE There are genetic polymorphisms related to susceptibility to COPD (rs1818879/A in IL6), as well as to the risk of greater severity of the disease (rs25882/T in CSF2). 30296713 2018
dbSNP: rs2069639
rs2069639
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019