DisGeNET - a database of gene-disease associations

Source: ALL

Gene: ALB ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

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

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

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

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.820

GeneticVariation

UNIPROT

Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.

9589637

1998

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

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

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.820

GeneticVariation

UNIPROT

Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia.

7852505

1995

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

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

dbSNP:

rs75002628

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.820

GeneticVariation

CLINVAR

dbSNP:

rs77892378

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

UNIPROT

Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.

9589637

1998

dbSNP:

rs77892378

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

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

dbSNP:

rs77892378

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

UNIPROT

Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia.

7852505

1995

dbSNP:

rs77892378

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

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

dbSNP:

rs77892378

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

CLINVAR

dbSNP:

rs74821926

ALB

CUI:	C4551623
Disease:	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs75353611

ALB

CUI:	C3889611
Disease:	ALBUMIN BLENHEIM PHENOTYPE

ALBUMIN BLENHEIM PHENOTYPE

0.700

CausalMutation

CLINVAR

dbSNP:

rs77238412

ALB

CUI:	C0878666
Disease:	Analbuminemia

Analbuminemia

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

dbSNP:

rs77238412

ALB

CUI:	C0878666
Disease:	Analbuminemia

Analbuminemia

0.700

CausalMutation

CLINVAR

Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review.

15300429

2004

dbSNP:

rs77238412

ALB

CUI:	C0878666
Disease:	Analbuminemia

Analbuminemia

0.700

CausalMutation

CLINVAR

Analbuminemia: three cases resulting from different point mutations in the albumin gene.

7937781

1994

dbSNP:

rs77335374

ALB

CUI:	C0878666
Disease:	Analbuminemia

Analbuminemia

0.700

CausalMutation

CLINVAR

dbSNP:

rs77408163

ALB

CUI:	C4015776
Disease:	ANALBUMINEMIA BAGHDAD

ANALBUMINEMIA BAGHDAD

0.700

CausalMutation

CLINVAR

dbSNP:

rs77449454

ALB

CUI:	C0878666
Disease:	Analbuminemia

Analbuminemia

0.700

CausalMutation

CLINVAR

dbSNP:

rs79228041

ALB

CUI:	C4015752
Disease:	ALBUMIN B PHENOTYPE

ALBUMIN B PHENOTYPE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1332629192

ALB

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

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

dbSNP:

rs1332629192

ALB

CUI:	C0011881
Disease:	Diabetic Nephropathy

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

dbSNP:

rs1332629192

ALB

CUI:	C0011854
Disease:	Diabetes Mellitus, Insulin-Dependent

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

dbSNP:

rs1332629192

ALB

CUI:	C0011881
Disease:	Diabetic Nephropathy

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