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: 84890
Gene Symbol: ADO
ADO
2-aminoethanethiol dioxygenase 0.670 0.538 0.48
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 3242
Gene Symbol: HPD
HPD
4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 3360
Gene Symbol: HTR4
HTR4
5-hydroxytryptamine receptor 4 0.610 0.615 2.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.040 None 1.000 4 0 2009 2017
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2000 2010
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.030 None 0.667 3 0 1999 2012
Entrez Id: 345651
Gene Symbol: ACTBL2
ACTBL2
actin beta like 2 0.539 0.769 5.8E-16
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
actinin alpha 4 0.508 0.808 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.060 None 1.000 6 0 2008 2018
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
activating signal cointegrator 1 complex subunit 1 0.495 0.846 2.6E-14
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2007 2012
Entrez Id: 55729
Gene Symbol: ATF7IP
ATF7IP
activating transcription factor 7 interacting protein 0.543 0.769 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
acyl-CoA thioesterase 7 0.531 0.769 0.76
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.040 None 1.000 4 0 1998 2014
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2014 2017
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 0.593 0.615
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 55738
Gene Symbol: ARFGAP1
ARFGAP1
ADP ribosylation factor GTPase activating protein 1 0.839 0.154 1.5E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 115761
Gene Symbol: ARL11
ARL11
ADP ribosylation factor like GTPase 11 0.670 0.423 5.3E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 4 2007 2007
Entrez Id: 148
Gene Symbol: ADRA1A
ADRA1A
adrenoceptor alpha 1A 0.462 0.846 3.4E-07
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 1 2007 2007