Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79594
Gene Symbol: MUL1
MUL1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. 28581440

2017
Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Two cases of CCD patient-derived induced pluripotent stem cells (CCD-iPSCs) were generated using retroviral vectors (OCT3/4, SOX2, KLF4, and c-MYC) or a Sendai virus SeVdp vector (KOSM302L). 29357927

2018
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 AlteredExpression BEFREE In contrast, we find that MLC1V mRNA levels tend to be reduced in both CM and CCD samples. 8377217

1993
Entrez Id: 4745
Gene Symbol: NELL1
NELL1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 AlteredExpression BEFREE Global Nell-1 inactivation in mice by N-ethyl-N-nitrosourea (ENU) mutagenesis results in neonatal lethality with skeletal abnormalities including cleidocranial dysplasia (CCD)-like calvarial bone defects. 31582804

2020
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE The molecular-genetic analysis of two underlying genes (CBFA1 and CBP) for CCD and RTS was performed using SSCP, direct sequencing and FISH. 12416539

2002
Entrez Id: 55824
Gene Symbol: PAG1
PAG1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE The molecular-genetic analysis of two underlying genes (CBFA1 and CBP) for CCD and RTS was performed using SSCP, direct sequencing and FISH. 12416539

2002
Entrez Id: 57060
Gene Symbol: PCBP4
PCBP4
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE The molecular-genetic analysis of two underlying genes (CBFA1 and CBP) for CCD and RTS was performed using SSCP, direct sequencing and FISH. 12416539

2002
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE AML3, gene encoding acute myeloid leukemia protein 3; bp, base pair; CBFA1, gene encoding core-binding factor 1; CBFbeta, gene encoding core-binding factor beta; CCD, cleidocranial dysplasia; NLS, nuclear localization signal; OSE2, osteoblast-specific cis-acting element 2; PEBP2A, gene encoding polyoma enhancer binding protein 2A; PST, proline/serine/ threonine-rich domain; Q/A, glutamine-alanine repeat domain; Runt, Runt Homology Domain; RUNX2, the mammalian runt-related genes 2; RUNX2, Runt-related protein 2. 19767586

2009
Entrez Id: 5300
Gene Symbol: PIN1
PIN1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 GeneticVariation BEFREE Pin1 mutant mice developed CCD-like phenotypes with hypoplastic clavicles and open fontanels as found in the Runx2+/- mice. 23702614

2013
Entrez Id: 5460
Gene Symbol: POU5F1
POU5F1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Two cases of CCD patient-derived induced pluripotent stem cells (CCD-iPSCs) were generated using retroviral vectors (OCT3/4, SOX2, KLF4, and c-MYC) or a Sendai virus SeVdp vector (KOSM302L). 29357927

2018
Entrez Id: 642559
Gene Symbol: POU5F1P3
POU5F1P3
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Two cases of CCD patient-derived induced pluripotent stem cells (CCD-iPSCs) were generated using retroviral vectors (OCT3/4, SOX2, KLF4, and c-MYC) or a Sendai virus SeVdp vector (KOSM302L). 29357927

2018
Entrez Id: 645682
Gene Symbol: POU5F1P4
POU5F1P4
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Two cases of CCD patient-derived induced pluripotent stem cells (CCD-iPSCs) were generated using retroviral vectors (OCT3/4, SOX2, KLF4, and c-MYC) or a Sendai virus SeVdp vector (KOSM302L). 29357927

2018
Entrez Id: 5562
Gene Symbol: PRKAA1
PRKAA1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Mechanistically, CCD-induced 4-HNE overload provoked cardiac Sirtuin 1 (SIRT1) carbonylative inactivation and inhibited Liver kinase B1 (LKB1) - AMP-activated protein kinase (LKB1-AMPK) interaction, which resulted in exacerbated MI/R injury and higher mortality compared with non-CCD WT mice. 29463997

2018
Entrez Id: 5563
Gene Symbol: PRKAA2
PRKAA2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Mechanistically, CCD-induced 4-HNE overload provoked cardiac Sirtuin 1 (SIRT1) carbonylative inactivation and inhibited Liver kinase B1 (LKB1) - AMP-activated protein kinase (LKB1-AMPK) interaction, which resulted in exacerbated MI/R injury and higher mortality compared with non-CCD WT mice. 29463997

2018
Entrez Id: 5564
Gene Symbol: PRKAB1
PRKAB1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Mechanistically, CCD-induced 4-HNE overload provoked cardiac Sirtuin 1 (SIRT1) carbonylative inactivation and inhibited Liver kinase B1 (LKB1) - AMP-activated protein kinase (LKB1-AMPK) interaction, which resulted in exacerbated MI/R injury and higher mortality compared with non-CCD WT mice. 29463997

2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. 28581440

2017
Entrez Id: 81847
Gene Symbol: RNF146
RNF146
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.210 Biomarker BEFREE Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. 28581440

2017
Entrez Id: 81847
Gene Symbol: RNF146
RNF146
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.210 Biomarker MGD

Entrez Id: 57521
Gene Symbol: RPTOR
RPTOR
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 Biomarker BEFREE Here we report that mice with a deficiency of either mTOR or Raptor in preosteoblasts exhibited clavicular hypoplasia and delayed fontanelle fusion, similar to those found in human patients with cleidocranial dysplasia (CCD) haploinsufficient for the transcription factor runt-related transcription factor 2 (Runx2) or those identified in Runx2<sup>+/-</sup> mice. 28686577

2017
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.010 GeneticVariation BEFREE A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia. 10962029

2000
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation BEFREE Although CCD is usually caused by mutations leading to haploinsufficiency of RUNX2, the underlying genetic cause remains unresolved in about 25% of cases. 22717651

2012
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker BEFREE Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). 28091408

2017
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker BEFREE RUNX2 analysis of Danish cleidocranial dysplasia families. 20560987

2011
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation BEFREE Cleidocranial dysplasia (CCD) is a skeletal dysplasia caused by heterozygous mutations of RUNX2, a gene that is essential for the mineralization of bone and tooth. 25589510

2015
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker CTD_human RUNX2 mutations lead to cleidocranial dysplasia in humans. 17022082

2006