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: 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: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 1.000 0 0 2016 2016
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Ski2 like RNA helicase 0.615 0.654 1.3E-22
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: 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: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
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: 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: 6938
Gene Symbol: TCF12
TCF12
transcription factor 12 0.565 0.654 0.68
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
transcription factor AP-2 beta 0.570 0.769 0.99
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
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: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
ring finger protein, LIM domain interacting 0.686 0.500 0.99
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
TBC1 domain family member 7 0.729 0.385 2.9E-12
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
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: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 0