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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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