Source: CLINVAR

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: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
family with sequence similarity 120A opposite strand 0.861 0.154 2.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 29888
Gene Symbol: STRN4
STRN4
striatin 4 0.792 0.346 0.99
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 2
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 3
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
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: 89953
Gene Symbol: KLC4
KLC4
kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 3 2019 2019
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 1630
Gene Symbol: DCC
DCC
DCC netrin 1 receptor 0.471 0.808 0.99
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 2017 2017