Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2018
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 25818337 2016
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2015
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2014
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE Genetic analysis using standard methods for DNA sequencing confirmed FS due to a WT1 gene mutation, IVS9+4C>T. 22908070 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 Biomarker disease BEFREE Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. 23295293 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE The Wilms tumor 1 (WT1) gene is currently in focus by pediatric nephrologists as its mutations are associated with nephrotic syndrome, especially as part of complex clinical entities like Denys-Drash or Frasier syndrome. 23618379 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1). 22815844 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. 23295293 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS). 22763603 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2012
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. 17935232 2008
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells. 18271004 2008
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 Biomarker disease LHGDN WT1 splice mutations are not rare in females under 18 years with steroid resistance (SRNS)/occurs in absence of a clear renal pathology picture and frequently in absence of phenotype change typical of Frasier syndrome. 16909243 2006
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964. 15973330 2005
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. 12932885 2004
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. 12199335 2003
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR This patient with FS presents an external genitalia of Denys-Drash syndrome, suggesting that these two syndromes are not distinct diseases but may represent two ends of a spectrum of disorders caused by alterations in WT1 gene. 12050205 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS). 12050205 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. 12050205 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE A splice mutation in intron 9 of the WT1 gene was recently described in patients with FS. 11954756 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 CausalMutation disease CLINVAR Constitutional heterozygous mutations of the WT1 gene, almost all located at intron 9, are found in patients with FS. 12050205 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
0.800 GeneticVariation disease BEFREE An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. 12050205 2002