SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype. 30963242 2019
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 GeneticVariation disease UNIPROT Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 22275001 2012
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 Biomarker disease GENOMICS_ENGLAND Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 22275001 2012
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 CausalMutation disease CLINVAR
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 Biomarker disease CTD_human
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 Biomarker disease BEFREE In conclusion, we identified a novel SMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background of SMAD6-related BAV. 30848080 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 GeneticVariation disease BEFREE Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on the other. 30963242 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 Biomarker disease CTD_human Causative gene mutations (for example, NOTCH1, SMAD6) are known for ≤1% of nonsyndromic BAV cases with and without AscAA<sup>5-8</sup>, impeding mechanistic insight and development of therapeutic strategies. 30455415 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 Biomarker disease BEFREE Causative gene mutations (for example, NOTCH1, SMAD6) are known for ≤1% of nonsyndromic BAV cases with and without AscAA<sup>5-8</sup>, impeding mechanistic insight and development of therapeutic strategies. 30455415 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 GeneticVariation disease BEFREE Although only 14% of the TAA patients also presented BAV, all novel likely pathogenic SMAD6 variants (N = 7) were identified in BAV/TAA individuals, further establishing the role of SMAD6 variants to the aetiology of BAV/TAA and revealing limited contribution to TAA development in patients with a tricuspid aortic valve. 30796334 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 GeneticVariation disease BEFREE Up to date, three genes, NOTCH1, GATA5 and SMAD6, have been linked to the isolated form of BAV. 29162281 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 GermlineCausalMutation disease ORPHANET Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 22275001 2012
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.650 Biomarker disease HPO
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		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: C1860819
Disease: Metopic synostosis
Metopic synostosis 		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 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
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.500 Biomarker disease CTD_human
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		0.500 Biomarker disease CTD_human
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.440 GeneticVariation disease BEFREE SMAD6 Genotype Predicts Neurodevelopment in Non-syndromic Craniosynostosis. 31592950 2020
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.440 GeneticVariation disease BEFREE Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on the other. 30963242 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.440 GeneticVariation disease BEFREE While significantly reduced penetrance of craniosynostosis has been reported for the SMAD6 variants as such, near-complete penetrance is reached upon co-occurrence with a common BMP2 SNP risk allele. 30796334 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.440 Biomarker disease BEFREE Although at least 50 nuclear genes including FGFR2, TWIST1, TCF12, and SMAD6 were identified as causative of craniosynostosis; only 25% of the patients can be genetically diagnosed. 30088857 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.440 Biomarker disease CTD_human
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.440 Biomarker disease HPO