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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2013 2013
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: 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: 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: 6776
Gene Symbol: STAT5A
STAT5A
signal transducer and activator of transcription 5A 0.445 0.808 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
signal transducer and activator of transcription 5B 0.442 0.808 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2009 2009
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: 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