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: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
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: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 9049
Gene Symbol: AIP
AIP
aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 1
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
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