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: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 1.000 strong 1.000 55 19 2003 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 1.000 definitive 1.000 46 8 1993 2019
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.890 strong 1.000 10 5 2012 2018
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.680 moderate 1.000 9 1 2012 2019
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
transforming growth factor beta 3 0.498 0.808 0.99
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.530 strong 1.000 4 0 2015 2018
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.410 strong 1.000 3 1 1990 2016
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
SMAD family member 2 0.456 0.808 1.00
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.330 None 1.000 3 0 2018 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.180 None 1.000 8 1 2006 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.020 None 0.500 2 0 2006 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.020 None 1.000 2 0 2011 2012
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
solute carrier family 2 member 10 0.550 0.615 1.6E-08
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 1257
Gene Symbol: CNC2
CNC2
Carney complex type 2, multiple neoplasia and lentiginosis 0.674 0.692
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 66035
Gene Symbol: SLC2A11
SLC2A11
solute carrier family 2 member 11 0.805 0.385 6.2E-13
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6546
Gene Symbol: SLC8A1
SLC8A1
solute carrier family 8 member A1 0.544 0.769 1.00
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 26585
Gene Symbol: GREM1
GREM1
gremlin 1, DAN family BMP antagonist 0.508 0.808 0.47
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 90525
Gene Symbol: SHF
SHF
Src homology 2 domain containing F 0.821 0.231 0.16
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 0.010 None 1.000 1 0 2019 2019