Source: INFERRED

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: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0024421
Disease: Macroglossia
Macroglossia
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: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0024421
Disease: Macroglossia
Macroglossia
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: C0024421
Disease: Macroglossia
Macroglossia
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: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 1.000 1 1 2008 2008
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
Wnt family member 5A 0.443 0.808 0.99
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
DNA methyltransferase 3 beta 0.453 0.846 0.20
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7849
Gene Symbol: PAX8
PAX8
paired box 8 0.477 0.731 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7038
Gene Symbol: TG
TG
thyroglobulin 0.480 0.808 2.9E-59
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0