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: 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: 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: 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: 6531
Gene Symbol: SLC6A3
SLC6A3
solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 6911
Gene Symbol: TBX6
TBX6
T-box transcription factor 6 0.659 0.385 6.8E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 1998 1998
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
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 1 2011 2011
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: 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: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
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: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 8139
Gene Symbol: GAN
GAN
gigaxonin 0.674 0.500 2.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 1