SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Neurofibromatosis 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 GeneticVariation disease BEFREE The SMAD4 and BMPR1A genes that are involved in 50-60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. 30276464 2019