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: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.500 None 1.000 13 3 2005 2019
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
nicotinamide nucleotide adenylyltransferase 2 0.670 0.500 0.99
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.310 limited 1.000 1 0 2019 2019
Entrez Id: 162514
Gene Symbol: TRPV3
TRPV3
transient receptor potential cation channel subfamily V member 3 0.610 0.577 4.6E-20
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 1 2016 2016
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
prostaglandin-endoperoxide synthase 1 0.460 0.885 6.2E-07
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 5473
Gene Symbol: PPBP
PPBP
pro-platelet basic protein 0.544 0.808 5.8E-02
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5196
Gene Symbol: PF4
PF4
platelet factor 4 0.522 0.846 4.3E-02
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
serpin family E member 1 0.359 0.885 4.4E-02
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 1 2015 2015
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
interferon alpha 13 0.374 0.923
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
interferon alpha 1 0.371 0.923
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 23101
Gene Symbol: MCF2L2
MCF2L2
MCF.2 cell line derived transforming sequence-like 2 0.628 0.577 1.2E-24
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7035
Gene Symbol: TFPI
TFPI
tissue factor pathway inhibitor 0.486 0.808 0.25
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease 0.010 None 1.000 1 0 2005 2005