Source: BEFREE

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: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 1634
Gene Symbol: DCN
DCN
decorin 0.457 0.808 0.31
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
cytochrome P450 family 2 subfamily C member 19 0.467 0.846 6.5E-20
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
endothelin 3 0.608 0.577 2.5E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1
collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
EPH receptor B2 0.374 0.846 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 26525
Gene Symbol: IL36RN
IL36RN
interleukin 36 receptor antagonist 0.638 0.538 3.4E-08
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.582 0.731 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 1 2000 2000
Entrez Id: 2247
Gene Symbol: FGF2
FGF2
fibroblast growth factor 2 0.383 0.923 1.8E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.020 None 1.000 2 0 1997 2016
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.020 None 1.000 2 0 2003 2012
Entrez Id: 138428
Gene Symbol: PTRH1
PTRH1
peptidyl-tRNA hydrolase 1 homolog 0.663 0.462 1.7E-04
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.020 None 0.500 2 0 2012 2017
Entrez Id: 2246
Gene Symbol: FGF1
FGF1
fibroblast growth factor 1 0.507 0.846 0.44
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.030 None 1.000 3 0 2007 2016
Entrez Id: 5741
Gene Symbol: PTH
PTH
parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.030 None 1.000 3 0 2007 2017
Entrez Id: 1267
Gene Symbol: CNP
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase 0.604 0.692 0.98
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.030 None 1.000 3 0 2012 2019
Entrez Id: 4880
Gene Symbol: NPPC
NPPC
natriuretic peptide C 0.568 0.769 6.1E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.090 None 1.000 9 0 2010 2020
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.090 None 1.000 9 0 1993 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.974 141 6 1994 2020