SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.820 GeneticVariation BEFREE They both had de novo c.1498A > G (p.Ile500Val) variant in SMAD4 and presented with key characteristics of Myhre syndrome but also revealed uncommon features (polydactyly in the girl and precocious puberty in the boy). 31654632 2020
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.820 GeneticVariation BEFREE We report a 2-year-old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene. 29230941 2018
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.820 GeneticVariation UNIPROT A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		G 0.820 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.820 GeneticVariation UNIPROT Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937 2016
dbSNP: rs281875320
rs281875320
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.800 GeneticVariation UNIPROT A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012
dbSNP: rs281875321
rs281875321
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.800 GeneticVariation UNIPROT A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667 2012
dbSNP: rs281875320
rs281875320
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.800 GeneticVariation UNIPROT Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
dbSNP: rs281875320
rs281875320
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		G 0.800 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
dbSNP: rs281875321
rs281875321
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.800 GeneticVariation UNIPROT Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
dbSNP: rs281875321
rs281875321
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		C 0.800 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697 2010
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697 2010
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914 2006
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs121912581
rs121912581
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002