Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR The three patients without SMAD4 mutations had typical findings of Myhre syndrome. 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR We identified SMAD4 mutations as the cause of Myhre syndrome. 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR Twenty-nine patients had a de novo heterozygous SMAD4 mutation, including both patients with LAPS. 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR Our identification of SMAD4 mutations in 29/32 cases confirms that SMAD4 is the major gene responsible for Myhre syndrome. 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease BEFREE SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations. 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease BEFREE Our identification of SMAD4 mutations in 29/32 cases confirms that SMAD4 is the major gene responsible for Myhre syndrome. 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). 24424121 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease BEFREE Novel SMAD4 mutation causing Myhre syndrome. 24715504 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 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
0.770 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease BEFREE Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. 22683461 2013
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 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
0.770 CausalMutation disease CLINVAR We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease UNIPROT We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease BEFREE First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. 22711472 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 Biomarker disease CTD_human Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease BEFREE Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 GeneticVariation disease UNIPROT Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 Biomarker disease CTD_human Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 Biomarker disease CTD_human We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2012
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
0.770 CausalMutation disease CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012