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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.477 0.808 0.73
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 7528
Gene Symbol: YY1
YY1
YY1 transcription factor 0.481 0.808 0.99
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0