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: 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: 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: 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: 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: 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: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0016689
Disease: Freckles
Freckles
phenotype 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
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: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
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: 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: 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: 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: 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: 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: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
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: 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: 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
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: 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