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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.700 None 0.977 0 0 1993 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.420 None 1.000 0 0 2007 2010
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.410 None 1.000 0 0 1995 2019
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.400 None 1.000 0 0 2017 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.180 None 1.000 0 0 1995 2017
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CYLD lysine 63 deubiquitinase 0.498 0.846 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.170 None 1.000 0 0 2010 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.150 None 1.000 0 0 1999 2018
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.110 None 1.000 0 0 1998 1998
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.110 None 1.000 0 0 1998 1998
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.110 None 1.000 0 0 2000 2000
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 64065
Gene Symbol: PERP
PERP
p53 apoptosis effector related to PMP22 0.663 0.577 7.9E-02
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 6578
Gene Symbol: SLCO2A1
SLCO2A1
solute carrier organic anion transporter family member 2A1 0.578 0.654 2.3E-13
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2
snail family transcriptional repressor 2 0.505 0.692 0.80
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 7133
Gene Symbol: TNFRSF1B
TNFRSF1B
TNF receptor superfamily member 1B 0.425 0.885 0.50
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 7424
Gene Symbol: VEGFC
VEGFC
vascular endothelial growth factor C 0.459 0.769 0.50
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 940
Gene Symbol: CD28
CD28
CD28 molecule 0.436 0.885 0.36
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
nth like DNA glycosylase 1 0.623 0.615 5.7E-10
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 10654
Gene Symbol: PMVK
PMVK
phosphomevalonate kinase 0.769 0.308 2.7E-05
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.100 None 0 0