NFIC, nuclear factor I C, 4782

N. diseases: 63; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome
0.010 GeneticVariation disease BEFREE The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. 26193383 2015