Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 148738
Gene Symbol: HJV
HJV
hemojuvelin BMP co-receptor 0.621 0.654 4.2E-03
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 2
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1