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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 1.000 2 1 2006 2006
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 2
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.705 0.423 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1837260
Disease: Prominent forehead
Prominent 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: C1837260
Disease: Prominent forehead
Prominent 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: C1837260
Disease: Prominent forehead
Prominent forehead
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: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
double PHD fingers 2 0.604 0.731 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
protein kinase D1 0.531 0.846 6.6E-07
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 55699
Gene Symbol: IARS2
IARS2
isoleucyl-tRNA synthetase 2, mitochondrial 0.590 0.654 8.1E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 0