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: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.400 None 1.000 0 0 2008 2008
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.400 None 1.000 0 0 2005 2005
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
four and a half LIM domains 1 0.532 0.731 0.97
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.110 None 1.000 0 0 2015 2015
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2
trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
small nuclear ribonucleoprotein polypeptides B and B1 0.595 0.731 0.71
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0