|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.820 |
GeneticVariation
|
BEFREE |
We described three novel mutations in THRB (p.M313V, p.R320G and p.R438P) and the first patients with FDH molecular diagnosis (p.R242H) documented in Brazil.
|
30027432 |
2018 |
|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.
|
9329347 |
1997 |
|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.820 |
GeneticVariation
|
BEFREE |
A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia.
|
31582975 |
2019 |
|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
|
9589637 |
1998 |
|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia.
|
7852505 |
1995 |
|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
|
8048949 |
1994 |
|
rs75002628
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
C |
0.820 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs77892378
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia.
|
7852505 |
1995 |
|
rs77892378
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
|
8048949 |
1994 |
|
rs77892378
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs77892378
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
|
9589637 |
1998 |
|
rs77892378
|
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.
|
9329347 |
1997 |
|
rs770678026
|
|
Amyotrophic Lateral Sclerosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
By combining immuno-spin trapping and molecular magnetic resonance imaging, in vivo trapped radical adducts were detected in the spinal cords of SOD1(G93A)-transgenic (Tg) mice, a model for ALS.
|
23722162 |
2013 |
|
rs770678026
|
|
Amyotrophic Lateral Sclerosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A transgenic mouse model of amyotrophic lateral sclerosis was selected based on a phenotype resembling clinical symptoms, including loss of motor neurons from the spinal cord and paralysis in one or more limbs, due to expression of a G93A mutant form of human superoxide dismutase (SOD1).
|
23383983 |
2013 |
|
rs1332629192
|
|
Diabetic Nephropathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The V16A polymorphism in SOD2 is associated with increased risk of diabetic nephropathy and cardiovascular disease in type 1 diabetes.
|
19834686 |
2009 |
|
rs1332629192
|
|
Diabetic Nephropathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present study aimed to determine whether a valine/alanine polymorphism in MnSOD (V16A, rs4880), alone or in combination with smoking, can contribute to development of diabetic nephropathy in 1,510 Finnish and Swedish patients with type 1 diabetes.
|
17192491 |
2007 |
|
rs1332629192
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
SOD2 gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican type 2 diabetes patients: a comparative study and meta-analysis.
|
24119114 |
2013 |
|
rs1332629192
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present study aimed to determine whether a valine/alanine polymorphism in MnSOD (V16A, rs4880), alone or in combination with smoking, can contribute to development of diabetic nephropathy in 1,510 Finnish and Swedish patients with type 1 diabetes.
|
17192491 |
2007 |
|
rs1332629192
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
These results suggest that V16A polymorphism of Mn-SOD gene is not related to pathogenesis of diabetes but is associated with stages of albuminuria in Korean type 2 diabetes.
|
16324912 |
2006 |
|
rs1332629192
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
The MnSOD V16A polymorphism is involved in the development of nephropathy caused by type 1 diabetes and seems to predict cardiovascular disease during follow-up.
|
19834686 |
2009 |
|
rs762334560
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The minor populations of variants harbouring the W4R, L30S, Q118R/Stop, N123D and S124F/P mutations in the pre-S region and the L21F/S and L42F/S mutations in the S region were detected more frequently in OBI-related HCC than in HBsAg-positive HCC.
|
29434654 |
2018 |
|
rs75002628
|
|
Hyperthyroxinemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia.
|
31582975 |
2019 |
|
rs58624704
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study demonstrated that PON1 polymorphisms L55M and Q192R seem to be genetic markers involved in the development of DN in T1D.(Endokrynol Pol 2017; 68 (1): 35-41).
|
26884296 |
2017 |
|
rs58624704
|
|
Diabetic Nephropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study demonstrated that PON1 polymorphisms L55M and Q192R seem to be genetic markers involved in the development of DN in T1D.(Endokrynol Pol 2017; 68 (1): 35-41).
|
26884296 |
2017 |
|
rs534536101
|
|
Leukopenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The single nucleotide polymorphism (SNP) c.415C>T in exon 3 of <i>NUDT15</i> affects thiopurine-induced leukopenia in Asian patients with Crohn's disease.
|
29398872 |
2018 |