KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE ×
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