Source: HPO

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: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 1.000 0 0 2007 2007
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA
UV stimulated scaffold protein A 0.805 0.269 5.4E-25
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC
XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
melanocortin 1 receptor 0.524 0.808 8.1E-11
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 1.000 0 0 2007 2007
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
cadherin 3 0.560 0.615 2.8E-10
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
O-6-methylguanine-DNA methyltransferase 0.412 0.885 1.2E-07
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
damage specific DNA binding protein 2 0.576 0.654 7.4E-06
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 54386
Gene Symbol: TERF2IP
TERF2IP
TERF2 interacting protein 0.548 0.731 2.7E-05
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 1030
Gene Symbol: CDKN2B
CDKN2B
cyclin dependent kinase inhibitor 2B 0.417 0.769 7.3E-03
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
cyclin dependent kinase 4 0.412 0.808 6.3E-02
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 54345
Gene Symbol: SOX18
SOX18
SRY-box transcription factor 18 0.578 0.692 0.15
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0