SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Myhre syndrome ×
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