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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
endothelin 1 0.380 0.846 0.46
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2009 2009