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: 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: 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: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome
0.710 GeneticVariation BEFREE We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. 31595668 2019
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome
T 0.710 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121 2014
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome
T 0.710 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
dbSNP: rs1555686624
rs1555686624
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs80338965
rs80338965
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome
T 0.700 CausalMutation CLINVAR