KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor
0.720 GeneticVariation BEFREE We found that TGCT risk was increased more than twofold per copy of the major G allele and A allele in KITLG rs995030 and rs4471514 (odds ratio (OR)=2.38, 95% confidence interval (95% CI)=1.81-3.12; OR=2.43, 95% CI=1.86-3.17 respectively), and homozygotes for the risk allele had a sevenfold increased risk of TGCT. 22194441 2012
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor
0.720 GeneticVariation BEFREE We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. 30027931 2019
dbSNP: rs730882157
rs730882157
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
0.710 GeneticVariation BEFREE A reported FPH substitution was observed in two FPHH families, and two, to our knowledge, previously unreported substitutions, p.Val33Ala and p.Thr34Pro, cosegregated with FPHH in two separate families. 21368769 2011
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0855197
Disease:
Malignant Testicular Germ Cell Tumor
0.710 GeneticVariation BEFREE The SNP rs995030 was strongly associated with risk of testicular cancer (per allele OR: 1.83; 95%CI: 1.26-2.64), but it did not modify the association between number of children and the risk of testicular cancer. 28036409 2016
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0153594
Disease:
Malignant neoplasm of testis
0.710 GeneticVariation BEFREE The SNP rs995030 was strongly associated with risk of testicular cancer (per allele OR: 1.83; 95%CI: 1.26-2.64), but it did not modify the association between number of children and the risk of testicular cancer. 28036409 2016
dbSNP: rs11104947
rs11104947
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0858681
Disease:
Vitiligo vulgaris
0.010 GeneticVariation BEFREE Our results revealed that the A allele for SNP rs11104947 in the SCF gene and the T allele for SNP rs13866 in the SCGF gene were, respectively, associated with a 1.95- and a 2.14-fold risk of developing vitiligo vulgaris. 19416273 2009
dbSNP: rs4474514
rs4474514
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0220620
Disease:
Gastrointestinal Carcinoid Tumor
0.010 GeneticVariation BEFREE The KITLG (rs4474514) and SPRY4 (rs4324715) variants were significantly associated with GCT only in the adolescent age group (rs4474514: OR = 2.28, 95% CI 1.09-4.79, P = 0.03 and rs4324715: OR = 2.40, 95% CI 1.19-4.83, P = 0.01). 22072546 2012
dbSNP: rs4474514
rs4474514
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0028960
Disease:
Oligospermia
0.010 GeneticVariation BEFREE These findings indicated that SNP rs3819392 in KIT gene and rs4474514 in KITLG gene may be associated with oligospermia, suggesting that polymorphism of KIT and KITLG genes may play a role in oligospermia. 24083421 2013
dbSNP: rs4474514
rs4474514
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0004509
Disease:
Azoospermia
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421 2013
dbSNP: rs4590952
rs4590952
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our results suggested that rs4590952 was not associated with the risk of BC in Chinese population, implying that heterogeneous distinct mechanisms might exist in the etiology of different cancers. 25220285 2014
dbSNP: rs4590952
rs4590952
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our results suggested that rs4590952 was not associated with the risk of BC in Chinese population, implying that heterogeneous distinct mechanisms might exist in the etiology of different cancers. 25220285 2014
dbSNP: rs864309655
rs864309655
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
0.010 GeneticVariation BEFREE A heterozygous missense mutation, c.310C>G (p.Leu104Val), that segregated with WS2 was identified in a small family. 26522471 2015
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE No GCNIS or TGCT was diagnosed, but pre-GCNIS was identified in 14 and 10% of complete and partial AIS patients, respectively, and was associated with a higher genetic susceptibility score (GSS), with special attention for KITLG (rs995030) and ATFZIP (rs2900333). 29121256 2017
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1864873
Disease:
Testicular Microlithiasis
0.010 GeneticVariation BEFREE We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. 30027931 2019
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0028960
Disease:
Oligospermia
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421 2013
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0004509
Disease:
Azoospermia
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421 2013
dbSNP: rs121918653
rs121918653
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
C 0.800 CausalMutation CLINVAR
dbSNP: rs730882157
rs730882157
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
G 0.710 CausalMutation CLINVAR
dbSNP: rs730882156
rs730882156
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
G 0.700 CausalMutation CLINVAR
dbSNP: rs864309653
rs864309653
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C4225241
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 69
A 0.700 CausalMutation CLINVAR
dbSNP: rs864309654
rs864309654
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C4225241
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 69
C 0.700 CausalMutation CLINVAR
dbSNP: rs1907703
rs1907703
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0018498
Disease:
Hair Color
0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs35618688
rs35618688
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0018498
Disease:
Hair Color
A 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs3782181
rs3782181
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor
A 0.700 GeneticVariation GWASCAT Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. 28604732 2017
dbSNP: rs3782181
rs3782181
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0039590
Disease:
Testicular Neoplasms
0.700 GeneticVariation GWASCAT Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. 20543847 2010