SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790 2014
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Myhre syndrome. 24580733 2014
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. 24841914 2014