STOX1, storkhead box 1, 219736

N. diseases: 39; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
0.610 SusceptibilityMutation phenotype ORPHANET STOX1: Key player in trophoblast dysfunction underlying early onset preeclampsia with growth retardation. 21490791 2011
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
0.610 AlteredExpression phenotype LHGDN In addition, they strongly suggest that anomalies in STOX1 expression are associated with the onset of preeclampsia, thus indicating that this gene should be the target of future studies. 19079545 2008
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
0.610 Biomarker phenotype CTD_human
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
0.610 Biomarker phenotype HPO
CUI: C1836255
Disease: Preeclampsia Eclampsia 4
Preeclampsia Eclampsia 4
0.400 GeneticVariation disease UNIPROT Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. 15806103 2005
CUI: C1836255
Disease: Preeclampsia Eclampsia 4
Preeclampsia Eclampsia 4
0.400 SusceptibilityMutation disease CLINVAR
CUI: C1836255
Disease: Preeclampsia Eclampsia 4
Preeclampsia Eclampsia 4
0.400 CausalMutation disease CLINVAR
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.140 GeneticVariation disease BEFREE The 10q22 chromosomal region with genomic linkage to pre-eclampsia in Dutch females shows a parent-of-origin effect with maternal transmission of the Y153H susceptibility allele of the STOX1 gene. 20716964 2011
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.140 GeneticVariation disease BEFREE The parallels in identity between the 10q22 genes involved and active in the organs (placenta, brain) primarily affected in the respective diseases led us to explore, if the pre-eclampsia susceptibility gene STOX1 is functionally involved in LOAD. 20110611 2010
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.140 GeneticVariation disease BEFREE The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by alpha-T-catenin upregulation. 20400461 2010
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.140 Biomarker disease BEFREE Our findings do not confirm previous suggestions that STOX1 plays a major role in Dutch women with pre-eclampsia. 17617193 2007
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.140 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.130 Biomarker group BEFREE Alpha-1 microglobulin as a potential therapeutic candidate for treatment of hypertension and oxidative stress in the STOX1 preeclampsia mouse model. 31189914 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.130 AlteredExpression phenotype BEFREE Preeclampsia induced by STOX1 overexpression in mice induces intrauterine growth restriction, abnormal ultrasonography and BOLD MRI signatures. 29465714 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.130 Biomarker group BEFREE Other genetic variants that may affect maternal blood pressure in pregnancy arise from the fetal genome, for example wild-type pregnant mice carrying offspring with Cdkn1c or Stox1 disrupted develop hypertension and proteinuria. 24842698 2014
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.130 AlteredExpression phenotype BEFREE For STOX1, no differential gene expression was observed in any of the case groups, whereas STOX2 showed significantly lower expression in deciduas from pregnancies complicated by both pre-eclampsia and FGR as compared with controls (P = 0.01). 20643876 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.130 GeneticVariation group BEFREE Mutations in STOX1 were proposed to be causal for predisposing to preeclampsia, a hypertensive disorder originating from placental defects, affecting up to 10% of human pregnancies. 19079545 2008
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.130 GeneticVariation phenotype BEFREE In an isolated Dutch population, a distortion could not be demonstrated in the transmission of STOX1-Y153H variation from heterozygous mothers to offspring in 50 and 56 families with pregnancies complicated by pre-eclampsia or intrauterine growth restriction, respectively. 17617193 2007
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.130 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.130 Biomarker group HPO
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
0.100 Biomarker phenotype HPO
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease HPO