MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: Parietal Foramina With Cleidocranial Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 23918290 2013
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND PFMCCD is indeed aetiologically distinct from CCD, which is caused by mutations in the RUNX2 gene, but allelic with isolated PFM, in which MSX2 mutations were previously identified. 14571277 2003
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 GeneticVariation disease BEFREE Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. 14571277 2003
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 CausalMutation disease CLINVAR
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 Biomarker disease CTD_human