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: 8518
Gene Symbol: ELP1
ELP1
elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 1.000 None 1.000 66 45 1993 2019
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2
serine palmitoyltransferase long chain base subunit 2 0.736 0.346 0.78
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.020 None 1.000 2 1 2015 2020
Entrez Id: 10376
Gene Symbol: TUBA1B
TUBA1B
tubulin alpha 1b 0.568 0.692 0.97
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.020 None 0.500 2 0 2011 2018
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
solute carrier family 6 member 4 0.429 0.808 0.25
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.020 None 1.000 2 0 2014 2017
Entrez Id: 4128
Gene Symbol: MAOA
MAOA
monoamine oxidase A 0.465 0.769 1.00
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.020 None 1.000 2 0 2005 2008
Entrez Id: 4803
Gene Symbol: NGF
NGF
nerve growth factor 0.391 0.885 0.82
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.020 None 1.000 2 0 1984 1988
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
TNF superfamily member 11 0.453 0.846 4.9E-03
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.020 None 1.000 2 0 2010 2019
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
C-X-C motif chemokine ligand 12 0.379 0.846 0.12
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 634
Gene Symbol: CEACAM1
CEACAM1
CEA cell adhesion molecule 1 0.525 0.731 7.9E-04
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP
bone gamma-carboxyglutamate protein 0.462 0.846 4.6E-08
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6283
Gene Symbol: S100A12
S100A12
S100 calcium binding protein A12 0.488 0.846 0.48
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 59330
Gene Symbol: GER
GER
Gastroesophageal reflux 0.678 0.538
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 664709
Gene Symbol: HNRNPA1P10
HNRNPA1P10
heterogeneous nuclear ribonucleoprotein A1 pseudogene 10 0.631 0.654
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6649
Gene Symbol: SOD3
SOD3
superoxide dismutase 3 0.531 0.808 7.2E-04
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 667
Gene Symbol: DST
DST
dystonin 0.552 0.846 1.00
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
tectonin beta-propeller repeat containing 2 0.663 0.423 0.58
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 948
Gene Symbol: CD36
CD36
CD36 molecule 0.446 0.846 1.1E-60
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9242
Gene Symbol: MSC
MSC
musculin 0.475 0.846 2.5E-02
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8788
Gene Symbol: DLK1
DLK1
delta like non-canonical Notch ligand 1 0.527 0.692 3.5E-02
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8727
Gene Symbol: CTNNAL1
CTNNAL1
catenin alpha like 1 0.780 0.269 1.7E-10
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.010 None 1.000 1 0 2019 2019