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: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 4810
Gene Symbol: NHS
NHS
NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0