|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.
|
26669242 |
2016 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.
|
26319241 |
2016 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers.
|
25378557 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We have detected the interactions of hsa-miR-214-5p/hsa-miR-550a-5p and the 3'UTR SNP of the HNF1B gene by in vitro luciferase reporter assays, and propose that the binding of such miRNAs regulates the expression of the HNF1B gene and the susceptibility of T2DM.
|
26329304 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05).
|
26599349 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.
|
25700310 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.
|
25500806 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD).
|
25700310 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
|
25441779 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
|
25536396 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
|
25441779 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young.
|
25741167 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.
|
25700310 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.
|
25754277 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
|
25536396 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient.
|
26417411 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
|
24509480 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B rs4430796 in influencing risk of type 2 diabetes (p < 0.05).
|
24280871 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
|
24509480 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.
|
24309898 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
|
24897035 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
HNF1B-related disease is an emerging condition characterized by an autosomal-dominant inheritance, a 50% rate of de novo mutations, and a highly variable phenotype (renal involvement, maturity-onset diabetes of the young type 5, pancreatic hypoplasia, and urogenital tract and liver test abnormalities).
|
24897035 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
|
24429398 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
|
24897035 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations.
|
24487052 |
2014 |