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: 3605
Gene Symbol: IL17A
IL17A
interleukin 17A 0.324 0.923 4.3E-02
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
sirtuin 1 0.378 0.885 8.7E-02
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 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: 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: 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: 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: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2017 2017
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: 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: 5460
Gene Symbol: POU5F1
POU5F1
POU class 5 homeobox 1 0.441 0.846 0.95
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 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: 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: 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: 5562
Gene Symbol: PRKAA1
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1 0.453 0.846 0.14
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 217
Gene Symbol: ALDH2
ALDH2
aldehyde dehydrogenase 2 family member 0.457 0.885 3.4E-10
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2018 2018
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: 407035
Gene Symbol: MIR31
MIR31
microRNA 31 0.471 0.769
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 0.010 None 1.000 1 0 2019 2019
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