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: rs371433324
rs371433324
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1691215
Disease:
Penile hypospadias 		0.010 GeneticVariation BEFREE The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias. 30550360 2019
dbSNP: rs869320699
rs869320699
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0032584
Disease:
polyps 		0.010 GeneticVariation BEFREE HEK cells transfected to express SMAD9(V90M) had reduced expression of phosphatase and tensin homolog; this reduction was also observed in a polyp from the patient. 26122142 2015
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: 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
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