SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9576132
rs9576132
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs146583835
rs146583835
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3697119
Disease:
Pulmonary arterial hypertension associated with congenital heart disease 		T 0.700 GeneticVariation CLINVAR Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. 30029678 2018
dbSNP: rs556429
rs556429
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0005938
Disease:
Bone Density 		A 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs121918359
rs121918359
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3888002
Disease:
PULMONARY HYPERTENSION, PRIMARY, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514716
rs397514716
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3888002
Disease:
PULMONARY HYPERTENSION, PRIMARY, 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397514715
rs397514715
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3888002
Disease:
PULMONARY HYPERTENSION, PRIMARY, 2 		0.800 GeneticVariation UNIPROT Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. 21898662 2011
dbSNP: rs397514715
rs397514715
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3888002
Disease:
PULMONARY HYPERTENSION, PRIMARY, 2 		C 0.800 CausalMutation CLINVAR