NEUROG3, neurogenin 3, 50674

N. diseases: 49; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		0.700 GermlineCausalMutation disease ORPHANET Mutant neurogenin-3 in congenital malabsorptive diarrhea. 16855267 2006
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		0.700 GeneticVariation disease UNIPROT Mutant neurogenin-3 in congenital malabsorptive diarrhea. 16855267 2006
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		0.700 Biomarker disease CTD_human
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		0.700 CausalMutation disease CLINVAR
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 GeneticVariation disease BEFREE A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome. 28940958 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 GeneticVariation disease BEFREE We hypothesized that null mutations in NEUROG3 might be responsible for the disease in a patient with permanent neonatal diabetes and severe congenital malabsorptive diarrhea. 21378176 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 GeneticVariation disease BEFREE This report describes a newly identified nonsense mutation in human NEUROG3 that in the homozygous state is associated with neonatal diabetes and malabsorptive diarrhea. 21490072 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. 29358691 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE We have sequenced NGN3 in KPD patients and screened gene variants in T2DM and controls (n = 232). 18093211 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE However, for these SNPs, only modest associations were found with a higher incidence of T2D: hazard ratios of 2.03 [1.00-4.11] for MMP26 (rs2499953 P = 0.05) and 1.33 [1.02-1.73] for NGN3 (rs10823406 P = 0.03). 18210030 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE Genetic variation of Neurogenin 3 is slightly associated with hyperproinsulinaemia and progression toward type 2 diabetes. 18072012 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE The goal of this study was to establish whether NEUROG3 gene variants are contributing to T2D in an Italian T2D cohort. 17146417 2006
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have been postulated to influence the development of type 2 diabetes. 15277395 2004
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.170 GeneticVariation disease BEFREE Mutations and polymorphisms of ngn3 gene are not significantly associated with Type II (non-insulin-dependent) diabetes mellitus in the Japanese subjects. 11270683 2001
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.140 GeneticVariation phenotype BEFREE Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. 27533310 2016
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.140 GeneticVariation phenotype BEFREE We hypothesized that null mutations in NEUROG3 might be responsible for the disease in a patient with permanent neonatal diabetes and severe congenital malabsorptive diarrhea. 21378176 2011
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.140 GeneticVariation phenotype BEFREE This report describes a newly identified nonsense mutation in human NEUROG3 that in the homozygous state is associated with neonatal diabetes and malabsorptive diarrhea. 21490072 2011
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.140 GeneticVariation phenotype BEFREE A newly discovered disorder characterized by malabsorptive diarrhea and a lack of intestinal enteroendocrine cells is caused by loss-of-function mutations in NEUROG3. 16855267 2006
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.140 Biomarker phenotype HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.120 AlteredExpression group BEFREE Biallelic mutations of the gene encoding the transcription factor NEUROG3 are associated with a rare disorder that presents in neonates as generalized malabsorption - due to a complete absence of enteroendocrine cells - followed, in early childhood or beyond, by insulin-dependent diabetes mellitus (IDDM). 31805014 2020
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.120 Biomarker group BEFREE The NEUROG3 gene (NEUROG3) is therefore a candidate for the cause of a newly discovered autosomal recessive disorder characterized by generalized malabsorption and a paucity of enteroendocrine cells. 16855267 2006
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.120 Biomarker group HPO
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease BEFREE We report two patients with biallelic functionally null variants of the NEUROG3 gene who nonetheless did not present with IDDM during infancy, but instead developed permanent IDDM during middle childhood ages. 31805014 2020