SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Juvenile polyposis syndrome ×
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: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR Severe constipation in a patient with Myhre syndrome: a case report. 26636501 2016
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 27302097 2016
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790 2014
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR Mutations of SMAD4 account for both LAPS and Myhre syndromes. 22585601 2012
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR Retinal involvement in two unrelated patients with Myhre syndrome. 22683461 2012
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR 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: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011