NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of cardiovascular system morphology
0.100 Biomarker disease HPO
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 AlteredExpression disease BEFREE NFIX downregulation might independently predict poor prognosis in LUAD. 30418046 2018
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 CausalMutation disease CLINVAR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE In particular, it affects the production of β-CTF which is increasingly considered to be an important mediator in AD independent of Aβ. 27430330 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE We recently reported a correlation between proteolytic product of gelsolin (carboxyl-terminal fragment of gelsolin, gelsolin-CTF) and severity of Alzheimer's disease. 20847428 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE The amyloid-β (Aβ) peptide is contained within the C-terminal fragment (β-CTF) of the amyloid precursor protein (APP) and is intimately linked to Alzheimer's disease. 21186781 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE In this review, we summarize observations indicating that both CTF and Abeta may participate in the neuronal degeneration in the progress of AD by differential mechanisms. 15821343 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE Intriguingly, Alzheimer's disease (AD)-associated pathological proteins, such as BACE-1, APP, β-CTF, α-CTF, Aβ <sub>1-42</sub> and phosphorylated tau proteins (S199, S396, T205, S214 and S404), were substantially increased after BPA exposure, and these effects were abrogated by insulin and rosiglitazone treatment; these findings underscore the specific roles of insulin signaling in BPA-mediated AD-like neurotoxicity. 28790390 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation disease BEFREE Processing of β-CTF by γ-secretase releases amyloid-β (Aβ), which is assumed to cause AD. 22170863 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE Here we report that NRBF2 (nuclear receptor binding factor 2), a key component and regulator of the PtdIns3K, is involved in APP-CTFs homeostasis in AD cell models. 28980867 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 Biomarker disease BEFREE The AAV1-I(2NTF-CTF) rats not only offer a disease-relevant model of the sporadic form of Alzheimer's disease but also represent a practical and widely available animal model. 23948903 2013
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.020 Biomarker disease BEFREE AβPP-CTF, Aβ45, and aggregated Aβ colocalized most strongly with mitochondria and endosomes and less with lysosomes and autophagosomes.Differences in iAβ by sex were minor. 31771065 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.020 Biomarker disease BEFREE In particular, it affects the production of β-CTF which is increasingly considered to be an important mediator in AD independent of . 27430330 2016
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea
0.100 Biomarker phenotype HPO
CUI: C3273254
Disease: Arterionephrosclerosis
Arterionephrosclerosis
0.010 Biomarker disease BEFREE CADM1 α-shedding was induced in AS and DN kidneys and derived from the decrease in full-length CADM1 (FL-CADM1) and increase of the COOH-terminal fragment (α-CTF). 29070574 2018
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 Biomarker group HPO
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.420 GeneticVariation disease BEFREE A subsequent meta-analysis of Phase I/II and the Psychiatric GWAS Consortium for BD (PGC-BD) identified another novel BD gene, NFIX (P<sub>best</sub>=5.8 × 10<sup>-10</sup>), and supported three regions previously implicated in BD susceptibility: MAD1L1 (P<sub>best</sub>=1.9 × 10<sup>-9</sup>), TRANK1 (P<sub>best</sub>=2.1 × 10<sup>-9</sup>) and ODZ4 (P<sub>best</sub>=3.3 × 10<sup>-9</sup>). 28115744 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.420 GeneticVariation disease GWASCAT A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder. 28115744 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.420 GeneticVariation disease BEFREE These data suggest that genetic variants in the NF1A gene region may predispose to seasonal patterned of mania in bipolar disorder. 22925353 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.420 Biomarker disease PSYGENET These data suggest that genetic variants in the NF1A gene region may predispose to seasonal patterned of mania in bipolar disorder. 22925353 2013