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: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 1.000 1 0 2005 2005
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: 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: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
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: 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: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
ANKH inorganic pyrophosphate transport regulator 0.606 0.692 0.28
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 0 0
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
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: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
discoidin domain receptor tyrosine kinase 2 0.541 0.769 0.55
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 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: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
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