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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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