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: 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: 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: 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: 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: 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: 200734
Gene Symbol: SPRED2
SPRED2
sprouty related EVH1 domain containing 2 0.711 0.577 2.9E-07
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.210 None 1.000 1 0 2005 2005
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: 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: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.210 None 1.000 3 0 1978 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: 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: 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: 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: 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: 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: 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: 5595
Gene Symbol: MAPK3
MAPK3
mitogen-activated protein kinase 3 0.379 0.885 3.7E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2011 2011
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: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2006 2006
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: 6574
Gene Symbol: SLC20A1
SLC20A1
solute carrier family 20 member 1 0.582 0.577 6.7E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 90410
Gene Symbol: IFT20
IFT20
intraflagellar transport 20 0.839 0.231 0.10
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
msh homeobox 1 0.525 0.731 0.17
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 6615
Gene Symbol: SNAI1
SNAI1
snail family transcriptional repressor 1 0.474 0.808 0.22
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2007 2007
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