SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE We reviewed the sexual features of reported Myhre syndrome cases and discussed the possible mechanism of SMAD4 variants in Myhre syndrome that lead to the abnormal hypothalamic-pituitary-gonadal axis. 31654632 2020
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE Loss-of-function pathogenic variants in SMAD4 cause juvenile polyposis syndrome and we hypothesize that the gain-of-function pathogenic variants observed in Myhre syndrome may contribute to neoplasia in the patients reported herein. 31837202 2020
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease 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
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease 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
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow spectrum of missense mutations in the SMAD4 gene. 27562837 2016
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 27302097 2016
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GermlineCausalMutation disease ORPHANET SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 CausalMutation disease CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GermlineCausalMutation disease ORPHANET Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 CausalMutation disease CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GermlineCausalMutation disease ORPHANET Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity. 24580733 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations. 24424121 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity. 24580733 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease UNIPROT A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease BEFREE Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. 22683461 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 Biomarker disease BEFREE The thick calvarium and thick skin were clues to the clinical diagnosis of MS. A heterozygous mutation in the mothers-against-DPP homolog 4 (SMAD4) gene has been reported to cause MS. We sequenced SMAD4 using standard PCR-based technique and identified a recurrent mutation (p.Ile500 Thr). 22711472 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GermlineCausalMutation disease ORPHANET A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GermlineCausalMutation disease ORPHANET We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 Biomarker disease GENOMICS_ENGLAND We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 Biomarker disease CTD_human We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 GeneticVariation disease UNIPROT We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.800 CausalMutation disease CLINVAR We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011