rs765798193, PSMD9

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE At the 12q24 locus, the Proteasome-Modulator 9 (PSMD9) single nucleotide polymorphisms (SNPs) rs74421874 [intervening sequence (IVS) 3+nt460-G>A], rs3825172 (IVS3+nt437-C>T) and rs14259 (E197G-A>G) are linked to: T2D, depression, anxiety, maturity-onset-diabetes-of the young 3/MODY3, obesity, waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular disease, T2D-microvascular disease, T2D-neuropathy, T2D-carpal-tunnel syndrome, T2D-nephropathy, T2D-retinopathy and non-diabetic retinopathy. 26166263 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE The 200 Italians families were tested for the PSMD9 T2D risk SNPs rs74421874 (IVS3 + nt460 G>A), rs3825172 (IVS3 +nt437 T>C) and for the T2D risk and anti-depressant response SNP rs1043307/rs2514259 (E197G A>G) for evidence of linkage with generalized anxiety disorder. 24648162 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE In summary, the PSMD9 IVS3 + nt460, IVS3 + nt437, E197G SNPs are linked via the recessive model to microvascular pathology of T2D in Italians. 22015693 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE We report the linkage study of the PSMD9 SNPs [intervening sequence IVS3+nt460A/G, IVS3+nt437C/T and E197G] in Italian families with T2D neuropathy. 21813292 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE We tested the PSMD9 T2D risk SNPs IVS3+nt460A>G, IVS3+nt437T>C and E197G for linkage to T2D-diabetic nephropathy in 200 Italians T2D families and show linkage to diabetic nephropathy. 21439668 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE We tested in the 200 Italians families for the presence of the linkage of the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3+nt460 A > G, IVS3+nt437 T > C and E197G A > G with elevated blood pressure/hypertension. 21871126 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE In the present study, we aimed at determining whether the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3 + nt460 A > G, IVS3 + nt437 T > C and E197G A > G are linked to hypercholesterolemia in 200 T2D Italian families. 21554682 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE In summary, the PSMD9 IVS3+nt460A/G, +nt437C/T and exon E197G A/G SNPs are linked to CAD, stroke/TIA and macrovascular pathology of T2D in Italians. 21496327 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE The aim of this study was to identify linkage of the proteasome modulator 9 (PSMD9) T2D risk variants IVS3+nt460, IVS3+nt437, E197G to diabetic retinopathy and retinopathy including also atherosclerotic or hypertensive retinopathy in Italian T2D families. 21728808 2011
Mental Depression
CUI: C0011570
Disease: Mental Depression
0.020 GeneticVariation BEFREE PSMD9 SNP rs74421874 [intervening sequence (IVS) 3 + nt460 G>A], rs3825172 (IVS3 + nt437 C>T) and rs1043307/rs2514259 (E197G A>G) are all linked to type 2 diabetes (T2D), maturity-onset-diabetes-of the young 3 (MODY3), obesity and waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular and T2D-microvascular disease, T2D-neuropathy, T2D-carpal tunnel syndrome, T2D-nephropathy, T2D-retinopathy, non-diabetic retinopathy and depression. 24648162 2014
Diabetic Retinopathy
CUI: C0011884
Disease: Diabetic Retinopathy
0.020 GeneticVariation BEFREE PSMD9 SNP rs74421874 [intervening sequence (IVS) 3 + nt460 G>A], rs3825172 (IVS3 + nt437 C>T) and rs1043307/rs2514259 (E197G A>G) are all linked to type 2 diabetes (T2D), maturity-onset-diabetes-of the young 3 (MODY3), obesity and waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular and T2D-microvascular disease, T2D-neuropathy, T2D-carpal tunnel syndrome, T2D-nephropathy, T2D-retinopathy, non-diabetic retinopathy and depression. 24648162 2014
Depressed mood
CUI: C0344315
Disease: Depressed mood
0.020 GeneticVariation BEFREE PSMD9 SNP rs74421874 [intervening sequence (IVS) 3 + nt460 G>A], rs3825172 (IVS3 + nt437 C>T) and rs1043307/rs2514259 (E197G A>G) are all linked to type 2 diabetes (T2D), maturity-onset-diabetes-of the young 3 (MODY3), obesity and waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular and T2D-microvascular disease, T2D-neuropathy, T2D-carpal tunnel syndrome, T2D-nephropathy, T2D-retinopathy, non-diabetic retinopathy and depression. 24648162 2014
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.020 GeneticVariation BEFREE PSMD9 SNP rs74421874 [intervening sequence (IVS) 3 + nt460 G>A], rs3825172 (IVS3 + nt437 C>T) and rs1043307/rs2514259 (E197G A>G) are all linked to type 2 diabetes (T2D), maturity-onset-diabetes-of the young 3 (MODY3), obesity and waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular and T2D-microvascular disease, T2D-neuropathy, T2D-carpal tunnel syndrome, T2D-nephropathy, T2D-retinopathy, non-diabetic retinopathy and depression. 24648162 2014
Mental Depression
CUI: C0011570
Disease: Mental Depression
0.020 GeneticVariation BEFREE We tested in the 200 Italians families for evidence of linkage of the PSMD9 single nucleotide polymorphisms (SNPs) IVS3+nt460 A > G, IVS3+nt437 T > C and E197G A > G with the depression phenotype. 22934761 2012
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.020 GeneticVariation BEFREE We tested in the 200 Italians families for evidence of linkage of the PSMD9 single nucleotide polymorphisms (SNPs) IVS3+nt460 A > G, IVS3+nt437 T > C and E197G A > G with the depression phenotype. 22934761 2012
Depressed mood
CUI: C0344315
Disease: Depressed mood
0.020 GeneticVariation BEFREE We tested in the 200 Italians families for evidence of linkage of the PSMD9 single nucleotide polymorphisms (SNPs) IVS3+nt460 A > G, IVS3+nt437 T > C and E197G A > G with the depression phenotype. 22934761 2012
Diabetic Retinopathy
CUI: C0011884
Disease: Diabetic Retinopathy
0.020 GeneticVariation BEFREE In summary, the PSMD9 IVS3+nt460, IVS3+nt437, E197G SNPs are linked to diabetic retinopathy and non-diabetic retinopathy in Italians. 21728808 2011
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE PSMD9 SNP rs1043307/rs14259 (E197G-A>G) plays a role in anti-depressant therapy response, depression and schizophrenia. 26166263 2015
Sleeplessness
CUI: C0917801
Disease: Sleeplessness
0.010 GeneticVariation BEFREE PSMD9 rs74421874 (IVS3+nt460-G>A), rs3825172 (IVS3+nt437-C>T) and rs1043307/rs14259 (E197G-A>G) SNPs are linked to insomnia in our Italian families. 26166263 2015
Generalized Anxiety Disorder
CUI: C0270549
Disease: Generalized Anxiety Disorder
0.010 GeneticVariation BEFREE The 200 Italians families were tested for the PSMD9 T2D risk SNPs rs74421874 (IVS3 + nt460 G>A), rs3825172 (IVS3 +nt437 T>C) and for the T2D risk and anti-depressant response SNP rs1043307/rs2514259 (E197G A>G) for evidence of linkage with generalized anxiety disorder. 24648162 2014
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.010 GeneticVariation BEFREE We report the linkage study of the PSMD9 SNPs [intervening sequence IVS3+nt460A/G, IVS3+nt437C/T and E197G] in Italian families with T2D neuropathy. 21813292 2012
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.010 GeneticVariation BEFREE We then screened 200 T2D siblings/families for PSMD9 +nt460A/G, +nt437C/T and exon E197G A/G single nucleotide polymorphisms (SNPs) and performed a non-parametric linkage study to test for linkage for coronary artery disease, stroke/TIA, macro-vasculopathy and macrovascular pathology of T2D. 21496327 2011
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE We tested the PSMD9 T2D risk SNPs IVS3+nt460A>G, IVS3+nt437T>C and E197G for linkage to T2D-diabetic nephropathy in 200 Italians T2D families and show linkage to diabetic nephropathy. 21439668 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE We then screened 200 T2D siblings/families for PSMD9 +nt460A/G, +nt437C/T and exon E197G A/G single nucleotide polymorphisms (SNPs) and performed a non-parametric linkage study to test for linkage for coronary artery disease, stroke/TIA, macro-vasculopathy and macrovascular pathology of T2D. 21496327 2011
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.010 GeneticVariation BEFREE In the present study, we aimed at determining whether the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3 + nt460 A > G, IVS3 + nt437 T > C and E197G A > G are linked to hypercholesterolemia in 200 T2D Italian families. 21554682 2011