Source: GENOMICS_ENGLAND

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: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 1.000 1 0 2007 2007
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 1.000 1 0 2004 2004
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 limited 0 0
Entrez Id: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 strong 0 0
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
cathepsin K 0.497 0.808 3.1E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 22858
Gene Symbol: CILK1
CILK1
ciliogenesis associated kinase 1 0.545 0.808 1.3E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0