SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Myhre syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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