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: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 1
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0