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: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 1.000 1 3 2019 2019
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: 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: 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: 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: 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: 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: 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: 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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 2
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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 2
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.120 None 1.000 0 3 2006 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: 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: 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: 6909
Gene Symbol: TBX2
TBX2
T-box transcription factor 2 0.544 0.769 0.99
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
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 2
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: 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