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 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 We investigated whether KITLG in the locus is mutated in FPHH. 21368769 2011
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 Biomarker disease GENOMICS_ENGLAND KITLG mutations cause familial progressive hyper- and hypopigmentation. 21368769 2011
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 GermlineCausalMutation disease ORPHANET KITLG mutations cause familial progressive hyper- and hypopigmentation. 21368769 2011
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: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 GeneticVariation disease UNIPROT Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 19375057 2009
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 GermlineCausalMutation disease ORPHANET Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 19375057 2009
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 CausalMutation disease CLINVAR
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 Biomarker disease CTD_human
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.600 Biomarker disease GENOMICS_ENGLAND Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation. 28504826 2017
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.600 CausalMutation disease CLINVAR
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.600 Biomarker disease CTD_human
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.510 GermlineCausalMutation disease ORPHANET Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands. 26522471 2015
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.510 Biomarker disease GENOMICS_ENGLAND Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands. 26522471 2015
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 GeneticVariation disease BEFREE Single-nucleotide polymorphisms in the KITLG gene showed significant associations, but only with testicular cancer. 22140272 2012
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.430 GeneticVariation disease GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011
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 Biomarker disease CTD_human A genome-wide association study of testicular germ cell tumor. 19483681 2009
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.430 GeneticVariation disease GWASDB Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. 19483682 2009
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.430 Biomarker disease CTD_human Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. 19483682 2009
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: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.410 GeneticVariation group GWASCAT Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.410 GeneticVariation group GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.410 GeneticVariation group GWASCAT Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. 20543847 2010