Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GeneticVariation disease BEFREE Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. 30548146 2018
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GeneticVariation disease CLINVAR Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GeneticVariation disease BEFREE Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 Biomarker disease BEFREE We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. 26193383 2015
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GeneticVariation disease CLINVAR Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 25118028 2015
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 Biomarker disease GENOMICS_ENGLAND Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 25118028 2015
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GeneticVariation disease BEFREE Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. 24924640 2014
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GermlineCausalMutation disease ORPHANET Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 Biomarker disease GENOMICS_ENGLAND Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 GeneticVariation disease CLINVAR Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 Biomarker disease CTD_human
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.740 CausalMutation disease CLINVAR
Entrez Id: 4782
Gene Symbol: NFIC
NFIC 		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