Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Overall results suggest changes in neuromodulator levels are subtle in SOD1-G93A ALS mixed cell cultures. 30618638

2018

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Therefore, the aim of this study was to investigate the effect of intravenous delivery of human IGF1 by self-complementary adeno-associated virus (scAAV) vectors in 90-day-old SOD1-G93A ALS mice. 29499331

2018

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Intraspinal administration of human spinal cord-derived neural progenitor cells in the G93A-SOD1 mouse model of ALS delays symptom progression, prolongs survival and increases expression of endogenous neurotrophic factors. 25641599

2017

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Finally, AAV9::IGF-2 delivery to muscles of SOD1(G93A) ALS mice extended life-span by 10%, while preserving motor neurons and inducing motor axon regeneration. 27180807

2016

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Here, to investigate the role of proliferating cells in motor neuron disease, SOD1(G93A) transgenic mice were treated intracerebroventicularly (i.c.v.) with the anti-mitotic drug cytosine arabinoside (Ara-C).I.c.v. delivery of Ara-C accelerated disease progression in SOD1(G93A) mouse model of ALS. 22523565

2012

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE We report that symptomatic male hSOD1(G93A) transgenic mice exhibit a deficiency in GH secretion similar to that seen in human ALS. 22621959

2012

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Therefore, we investigate the influence of the soluble factors released by hADSCs on the GLT1 in primary astrocytes cultured from SOD1(G93A) mice, a widely studied mutant human SOD1 transgenic model of ALS. 20152807

2010

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Although viral delivery of IGF-I has shown therapeutic efficacy in the SOD1(G93A) mouse model of ALS, clinical trials of IGF-I in ALS patients have led to conflicting results. 19038252

2009

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE To evaluate the therapeutic potential of human neural progenitor cells (hNPs) in amyotrophic lateral sclerosis (ALS), we transplanted hNPs or growth factor (GF)-expressing hNPs into the central nervous system (CNS) of mutant Cu/Zn superoxide dismutase (SOD1(G93A)) transgenic mice. 19322031

2009

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Innate and adaptive immunity were investigated in the CNS of the Superoxide Dismutase 1 (SOD1)(G93A) transgenic mouse model of ALS. 18997009

2008

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE To investigate the effect of specific and sustained IGF-1 expression in skeletal muscle or central nervous system on motor performance, life span, and motor neuron survival, human-IGF-1 transgenic mice were crossed with the G93A SOD-1 mutant model of ALS. 17597610

2007

dbSNP: rs35767
rs35767
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE We considered type 2 diabetes mellitus as a model and identified a well-known diabetic risk variant rs35767 using iTEA. 29440655

2018

dbSNP: rs35767
rs35767
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE AG genotype of rs6218 and TT genotype of rs35767 were significantly associated with the elevated risk of DR (rs6218: OR=1.77, <i>P</i>=0.04; rs35767: OR=2.32, <i>P</i>=0.03) and type II diabetes mellitus (T2DM) (rs6218: OR=1.92, <i>P</i>=0.00. rs35767: OR=2.29, <i>P</i>=0.02). 29152139

2017

dbSNP: rs35767
rs35767
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE The rs35767 polymorphism was not associated with age, gender, BMI, waist circumference, smoking, blood pressure, plasma glucose, HbA1c, type 2 diabetes, HOMA-IR, hsCRP, eGFR, and lipid profile. 28415730

2017

dbSNP: rs35767
rs35767
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE The SNP rs7754840 in CDKAL1, rs864745 in JAZF1, and rs35767 in IGF1 might serve as potential susceptibility loci for T2DM in Uyghurs. 25785549

2015

dbSNP: rs35767
rs35767
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE We analyzed nine single-nucleotide polymorphisms (SNPs), including rs340874 (PROX1), rs4607517 (GCK), rs2191349 (DGKB-TMEM195), rs7034200 (GLIS3), rs10885122 (ADRA2A), rs174550 (FADS1), rs11605924 (CRY2), rs10830963 (MTNR1B) and rs35767 (IGF1). rs340874 (PROX1) and rs174550 (FADS1) were significantly associated with T2D (P=0.0078, OR: 1.12; and P=0.0071, OR: 1.12, respectively). 22992776

2012

dbSNP: rs35767
rs35767
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.040 GeneticVariation BEFREE Taken together, the findings of our current study suggested a significant association between rs35767 polymorphism and risk of osteoporosis in Chinese post-menopausal women. 29747606

2018

dbSNP: rs35767
rs35767
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.040 GeneticVariation BEFREE Our study found that CT+TT genotype of rs35767 was significantly associated with moderate increased risk of osteo</span>porosis in smokers and drinkers, and the ORs (95% CI) were 2.11 (1.06-4.20) and 2.36 (1.29-4.32), respectively. 26191288

2015

dbSNP: rs35767
rs35767
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.040 GeneticVariation BEFREE According to conditional regression analysis, individuals carrying the TT genotype of rs35767 had an increased risk of osteoporosis, with an adjusted odds ratio (95% confidence interval) of 2.29 (1.35-4.97). 26214445

2015

dbSNP: rs35767
rs35767
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.040 GeneticVariation BEFREE Association of the IGF-1 rs35767 and rs972936 polymorphisms with the risk of osteoporosis in a Chinese postmenopausal female population. 26600491

2015

dbSNP: rs6214
rs6214
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.040 GeneticVariation BEFREE This meta-analysis showed there was no association detected between IGF1 rs6214 and high myopia. 28135889

2017

dbSNP: rs6214
rs6214
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.040 GeneticVariation BEFREE We found a significant association of the IGF-1 gene rs6214 polymorphism in Egyptian patients with simple myopia and high-grade myopia. 27167306

2016

dbSNP: rs6214
rs6214
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.040 GeneticVariation BEFREE This meta-analysis shows that IGF-1 rs12423791 or rs6214 gene polymorphism is not associated with high myopia. 26076017

2015

dbSNP: rs6214
rs6214
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.040 GeneticVariation BEFREE To determine the distribution of the HM-associated SNPs rs6214 and rs10860860, 543 unrelated individuals from the general Polish population were also analyzed. 21976954

2011

dbSNP: rs6214
rs6214
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 GeneticVariation BEFREE In this Dutch case-control study, DNA isolated from blood of 1,457 GI cancer patients; 438 patients with head and neck cancer (HNC), 475 with esophageal cancer (EC) and 544 with colorectal cancer (CRC) and 1,457 matched controls, was used to determine the rs6214 and rs6898743 genotypes by polymerase chain reaction. 24608110

2014