KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Disease: Melanosis, Universal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835039
Disease: Melanosis, Universal
Melanosis, Universal 		0.300 GermlineCausalMutation disease ORPHANET Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 19375057 2009