KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 GeneticVariation disease BEFREE We investigated whether KITLG in the locus is mutated in FPHH. 21368769 2011
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 GeneticVariation disease BEFREE To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. 29186243 2018
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 GeneticVariation disease BEFREE Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 19375057 2009
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.510 GeneticVariation disease BEFREE Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands. 26522471 2015
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.430 Biomarker disease BEFREE Molecular genetic alterations of known protoncogenes and growth factors, e.g. c-kit and its ligand SCF as well as hst1 and c-myc, are likely to play a role in the development of testicular cancer. 7522081 1994
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.430 GeneticVariation disease BEFREE Although most variants are cancer specific, pleiotropy has been observed for several variants, for example, variants at the 8q24 locus and breast, ovarian and prostate cancers or variants in KITLG in relation to hair color and testicular cancer. 21459759 2011
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.430 GeneticVariation disease BEFREE Single-nucleotide polymorphisms in the KITLG gene showed significant associations, but only with testicular cancer. 22140272 2012
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.410 AlteredExpression group BEFREE SCF transcript values were low and comparable among the analysed subgroups except that in maturation arrest at spermatocyte stage, the SCF gene expression was statistically higher than in testicular tumours. 20384797 2010
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.330 GeneticVariation disease BEFREE Association between KITLG Gene Polymorphisms and Testicular Germ Cell Tumors: A Systematic Review and Meta-analysis. 31612386 2019
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.330 GeneticVariation disease BEFREE Recent genome wide association studies have identified susceptibility loci for adult testicular germ cell tumors (GCT) near KITLG, SPRY4, BAK1, and DMRT1. 22072546 2012
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.330 AlteredExpression disease BEFREE KITLG expression was consistently increased in the presence of PDE11A-inactivating defects, both at the RNA and protein levels, in familial testicular germ cell tumors. 23771924 2013
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.320 Biomarker disease BEFREE Northern blot analyses for messenger RNA and ELISA for biologically active SCF protein from cultured Np epithelial cells and fibroblasts were performed. 9314353 1997
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.320 Biomarker disease BEFREE For the whole group of patients, the number of polypectomies correlated with expression of SCF mRNA (r = 0.62; P < 0.005), SCF protein in the NPECs supernatants (r = 0.39; P < 0.05) and with density of mast cells in epithelial layer (r = 0.37; P < 0.05) and stromal layer (r = 0.5; P < 0.01) of nasal polyps. 15813808 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.310 Biomarker group BEFREE The cumulative evidence indicates that HMGA1 positively regulates the human KL promoter in breast and ovarian cancer cells and implicates serum KL as a diagnostic marker for HMGA1-positive carcinomas. 15378028 2004
CUI: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer 		0.310 Biomarker disease BEFREE Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. 29131109 2018
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.220 GeneticVariation disease BEFREE Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age. 30390314 2019
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.220 Biomarker disease BEFREE The altered distribution of mast-cell growth factor in the skin of patients with cutaneous mastocytosis is consistent with abnormal production of the soluble form of this factor. 7682288 1993
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.150 GeneticVariation disease BEFREE Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. 19483682 2009
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.150 Biomarker disease BEFREE Molecular genetic alterations of known protoncogenes and growth factors, e.g. c-kit and its ligand SCF as well as hst1 and c-myc, are likely to play a role in the development of testicular cancer. 7522081 1994
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.150 GeneticVariation disease BEFREE Although most variants are cancer specific, pleiotropy has been observed for several variants, for example, variants at the 8q24 locus and breast, ovarian and prostate cancers or variants in KITLG in relation to hair color and testicular cancer. 21459759 2011
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.150 GeneticVariation disease BEFREE Variants in KITLG predispose to testicular germ cell cancer independently from spermatogenic function. 22194441 2012
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.150 GeneticVariation disease BEFREE Single-nucleotide polymorphisms in the KITLG gene showed significant associations, but only with testicular cancer. 22140272 2012
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.150 GeneticVariation disease BEFREE We observed strong association between SNPs in all six genes and TGCT (lowest P-value per gene: ATF7IP 6.2 × 10(-6); BAK1 2.1 × 10(-10); DMRT1 6.7 × 10(-25); KITLG 2.1 × 10(-48); SPRY4 1.4 × 10(-29); TERT 1.8 × 10(-18)). 23640991 2013
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.150 Biomarker disease BEFREE Previous studies have linked PTEN to TGCT etiology, and there is also a link between PTEN and KITLG, which contains TGCT susceptibility loci revealed through recent genome-wide studies. 23639623 2013
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.150 Biomarker disease BEFREE KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12. 19483681 2009