rs75002628
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Hyperthyroxinemia, Familial Dysalbuminemic
0.820
GeneticVariation
UNIPROT
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
9589637
1998
rs75002628
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Hyperthyroxinemia, Familial Dysalbuminemic
0.820
GeneticVariation
UNIPROT
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia.
7852505
1995
rs75002628
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Hyperthyroxinemia, Familial Dysalbuminemic
C
0.820
GeneticVariation
CLINVAR
rs77892378
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Hyperthyroxinemia, Familial Dysalbuminemic
0.800
GeneticVariation
UNIPROT
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
9589637
1998
rs77892378
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
rs77892378
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Hyperthyroxinemia, Familial Dysalbuminemic
0.800
GeneticVariation
UNIPROT
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia.
7852505
1995
rs77892378
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Hyperthyroxinemia, Familial Dysalbuminemic
C
0.800
GeneticVariation
CLINVAR
rs77238412
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Analbuminemia
T
0.700
CausalMutation
CLINVAR
Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene.
15996651
2005
rs77238412
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Analbuminemia
T
0.700
CausalMutation
CLINVAR
Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review.
15300429
2004
rs77238412
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Analbuminemia
T
0.700
CausalMutation
CLINVAR
Analbuminemia: three cases resulting from different point mutations in the albumin gene.
7937781
1994
rs74821926
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
A
0.700
CausalMutation
CLINVAR
rs75353611
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
ALBUMIN BLENHEIM PHENOTYPE
T
0.700
CausalMutation
CLINVAR
rs77335374
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Analbuminemia
G
0.700
CausalMutation
CLINVAR
rs77408163
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
ANALBUMINEMIA BAGHDAD
A
0.700
CausalMutation
CLINVAR
rs77449454
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
Analbuminemia
GA
0.700
CausalMutation
CLINVAR
rs79228041
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
ALBUMIN B PHENOTYPE
A
0.700
CausalMutation
CLINVAR
rs1332629192
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
rs770678026
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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
×
Entrez Id:
213
Gene Symbol:
ALB
ALB
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