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: 51151
Gene Symbol: SLC45A2
SLC45A2
solute carrier family 45 member 2 0.626 0.538 1.7E-06
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 4 3 2007 2018
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
melanocortin 1 receptor 0.524 0.808 8.1E-11
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 3 6 2013 2018
Entrez Id: 3662
Gene Symbol: IRF4
IRF4
interferon regulatory factor 4 0.491 0.769 0.86
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 3 1 2013 2018
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 2 2 2007 2018
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 2 3 2015 2018
Entrez Id: 56952
Gene Symbol: PRTFDC1
PRTFDC1
phosphoribosyl transferase domain containing 1 0.805 0.385 2.4E-13
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 79895
Gene Symbol: ATP8B4
ATP8B4
ATPase phospholipid transporting 8B4 (putative) 0.931 0.115 3.7E-34
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2007 2017
Entrez Id: 8858
Gene Symbol: PROZ
PROZ
protein Z, vitamin K dependent plasma glycoprotein 0.792 0.385 1.2E-16
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 54849
Gene Symbol: DEF8
DEF8
differentially expressed in FDCP 8 homolog 0.839 0.115 2.6E-03
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 54331
Gene Symbol: GNG2
GNG2
G protein subunit gamma 2 0.821 0.346 0.51
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 50804
Gene Symbol: MYEF2
MYEF2
myelin expression factor 2 0.890 0.192 0.63
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5
solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2007 2017
Entrez Id: 22913
Gene Symbol: RALY
RALY
RALY heterogeneous nuclear ribonucleoprotein 0.656 0.385 0.14
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 124045
Gene Symbol: SPATA33
SPATA33
spermatogenesis associated 33 0.861 0.115 1.3E-04
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 100506736
Gene Symbol: SLFN12L
SLFN12L
schlafen family member 12 like 7.7E-11
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype 0.100 None 1.000 1 1 2017 2017