SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Disease: CRANIOSYNOSTOSIS 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		0.500 Biomarker disease GENOMICS_ENGLAND Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. 28659821 2017
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		0.500 GeneticVariation disease UNIPROT Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 27606499 2016