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: 1836
Gene Symbol: SLC26A2
SLC26A2 		solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.400 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: 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: 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: 6905
Gene Symbol: TBCE
TBCE 		tubulin folding cofactor E 0.575 0.692 1.7E-08
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
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: 124583
Gene Symbol: CANT1
CANT1 		calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 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: 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: 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: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 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: 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: 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: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
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