Source: INFERRED

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: 1289
Gene Symbol: COL5A1
COL5A1
collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 1 2007 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 1 2007 2007
Entrez Id: 9244
Gene Symbol: CRLF1
CRLF1
cytokine receptor like factor 1 0.597 0.654 4.0E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
NUS1 dehydrodolichyl diphosphate synthase subunit 0.619 0.615 0.98
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
zinc finger MYND-type containing 10 0.553 0.731 2.3E-07
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.447 0.846 0.99
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 8838
Gene Symbol: CCN6
CCN6
cellular communication network factor 6 0.568 0.731 6.2E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 10 2014 2014
Entrez Id: 54453
Gene Symbol: RIN2
RIN2
Ras and Rab interactor 2 0.623 0.692 8.1E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 1990 1990
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 9 1 2005 2009
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 4 1 2010 2014
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 2 1 2016 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 2 1 2016 2017
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
adhesion G protein-coupled receptor G6 0.666 0.385 6.6E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 2013 2013