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: 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: 4935
Gene Symbol: GPR143
GPR143
G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
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: 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: 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: 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: 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: 25913
Gene Symbol: POT1
POT1
protection of telomeres 1 0.560 0.731 0.85
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: 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: 8314
Gene Symbol: BAP1
BAP1
BRCA1 associated protein 1 0.454 0.731 0.99
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: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
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: 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: 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: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
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: 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: 6885
Gene Symbol: MAP3K7
MAP3K7
mitogen-activated protein kinase kinase kinase 7 0.477 0.808 1.00
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
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: 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: 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: 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