| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | disease | BEFREE | To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. | 29186243 | 2018 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | We investigated whether KITLG in the locus is mutated in FPHH. | 21368769 | 2011 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | KITLG mutations cause familial progressive hyper- and hypopigmentation. | 21368769 | 2011 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | KITLG mutations cause familial progressive hyper- and hypopigmentation. | 21368769 | 2011 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. | 19375057 | 2009 | ||||
|
0.730 | GeneticVariation | disease | UNIPROT | Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. | 19375057 | 2009 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. | 19375057 | 2009 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | |||||||
|
0.730 | Biomarker | disease | CTD_human | |||||||
|
0.010 | AlteredExpression | disease | BEFREE | Furthermore, subjects with lower HMW adiponectin levels showed a 2.1 increased risk of presenting the MUH phenotype. | 29617320 | 2018 | ||||
|
0.010 | Biomarker | disease | BEFREE | FPHH is distinct from familial progressive hyperpigmentation (FPH), in which no hypopigmented features are present, and which is phenotypically and histologically closer to Dyschromatosis Universalis Hereditaria 2 (DUH2). | 21368769 | 2011 |