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: 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: 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: 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: 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: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2011 2011
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: 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: 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: 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: 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: 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: 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: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2016 2016
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: 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: 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: 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: 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: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.010 None 1.000 1 0 2019 2019
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