NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Disease: Marinesco-Sjogren syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		0.020 GeneticVariation disease BEFREE Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. 30548146 2018
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		0.020 GeneticVariation disease BEFREE Predicted MSS-associated mutant NFIX proteins consistently have a preserved DNA binding and dimerization domain, whereas they grossly vary in their C-terminal portion. 24924640 2014