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: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.390 moderate 1.000 10 0 1993 2013
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 1051
Gene Symbol: CEBPB
CEBPB
CCAAT enhancer binding protein beta 0.508 0.731 0.36
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.210 None 1.000 4 0 1995 2014
Entrez Id: 202500
Gene Symbol: TCTE1
TCTE1
t-complex-associated-testis-expressed 1 0.931 0.115 7.7E-11
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 1.000 None 0.976 125 18 1997 2019
Entrez Id: 654
Gene Symbol: BMP6
BMP6
bone morphogenetic protein 6 0.531 0.808 0.76
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 55824
Gene Symbol: PAG1
PAG1
phosphoprotein membrane anchor with glycosphingolipid microdomains 1 0.505 0.808 1.8E-02
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1977
Gene Symbol: EIF4E
EIF4E
eukaryotic translation initiation factor 4E 0.448 0.846 0.94
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 57060
Gene Symbol: PCBP4
PCBP4
poly(rC) binding protein 4 0.523 0.808 2.4E-03
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
opsin 1, long wave sensitive 0.497 0.808 0.98
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
msh homeobox 2 0.539 0.769 0.26
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5300
Gene Symbol: PIN1
PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 0.488 0.769 0.74
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A
TNF receptor superfamily member 11a 0.480 0.846 8.8E-03
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 690
Gene Symbol: BTF3P11
BTF3P11
basic transcription factor 3 pseudogene 11 0.519 0.731
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.030 None 1.000 3 0 2014 2016
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.030 None 1.000 3 0 2014 2016
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
TNF superfamily member 11 0.453 0.846 4.9E-03
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.020 None 1.000 2 0 2015 2016
Entrez Id: 6932
Gene Symbol: TCF7
TCF7
transcription factor 7 0.556 0.654 5.4E-03
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1834
Gene Symbol: DSPP
DSPP
dentin sialophosphoprotein 0.556 0.769 1.1E-07
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None < 0.001 1 0 2015 2015