Source: ALL

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: 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: 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: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 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: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2009 2009
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: 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: 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: 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: 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: 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: 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: 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 0.974 152 12 1994 2020
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
growth factor receptor bound protein 10 0.628 0.615 0.94
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 1 2016 2016
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: 10013
Gene Symbol: HDAC6
HDAC6
histone deacetylase 6 0.465 0.846 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3495
Gene Symbol: IGHD
IGHD
immunoglobulin heavy constant delta 0.722 0.346
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
interleukin 17A 0.324 0.923 4.3E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2019 2019
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