MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1
0.600 Biomarker disease GENOMICS_ENGLAND Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 23918290 2013
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1
0.600 GeneticVariation disease UNIPROT Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. 10742103 2000
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1
0.600 GeneticVariation disease UNIPROT Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. 10767351 2000
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1
0.600 CausalMutation disease CLINVAR
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1
0.600 Biomarker disease GENOMICS_ENGLAND