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: 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: 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: 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: 81847
Gene Symbol: RNF146
RNF146
ring finger protein 146 0.705 0.577 0.82
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.210 None 1.000 1 0 2017 2017
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.040 None 1.000 4 2 2017 2019
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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.020 None 1.000 2 1 2018 2018
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: 642559
Gene Symbol: POU5F1P3
POU5F1P3
POU class 5 homeobox 1 pseudogene 3 0.452 0.808
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 5563
Gene Symbol: PRKAA2
PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2 0.456 0.846 3.5E-08
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 57521
Gene Symbol: RPTOR
RPTOR
regulatory associated protein of MTOR complex 1 0.628 0.692 1.00
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2017 2017
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: 5564
Gene Symbol: PRKAB1
PRKAB1
protein kinase AMP-activated non-catalytic subunit beta 1 0.460 0.846 5.3E-03
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 645682
Gene Symbol: POU5F1P4
POU5F1P4
POU class 5 homeobox 1 pseudogene 4 0.452 0.808
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 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: 79594
Gene Symbol: MUL1
MUL1
mitochondrial E3 ubiquitin protein ligase 1 0.473 0.808 1.9E-06
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2017 2017
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: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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