DisGeNET - a database of gene-disease associations

ALB, albumin, 213

N. diseases: 1198; N. variants: 21

Source: ALL

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

Hyperthyroxinemia, Familial Dysalbuminemic

0.820

GeneticVariation

UNIPROT

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

9589637

1998

dbSNP:

rs75002628

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

Hyperthyroxinemia, Familial Dysalbuminemic

0.820

GeneticVariation

UNIPROT

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

7852505

1995

dbSNP:

rs75002628

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

Hyperthyroxinemia, Familial Dysalbuminemic

0.820

GeneticVariation

CLINVAR

dbSNP:

rs77892378

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

UNIPROT

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

9589637

1998

dbSNP:

rs77892378

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

UNIPROT

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

7852505

1995

dbSNP:

rs77892378

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0342185
Disease:

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

CLINVAR

dbSNP:

rs77238412

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0878666
Disease:

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

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0878666
Disease:

Analbuminemia

0.700

CausalMutation

CLINVAR

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

15300429

2004

dbSNP:

rs77238412

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0878666
Disease:

Analbuminemia

0.700

CausalMutation

CLINVAR

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

7937781

1994

dbSNP:

rs74821926

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C4551623
Disease:

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs75353611

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C3889611
Disease:

ALBUMIN BLENHEIM PHENOTYPE

0.700

CausalMutation

CLINVAR

dbSNP:

rs77335374

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0878666
Disease:

Analbuminemia

0.700

CausalMutation

CLINVAR

dbSNP:

rs77408163

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C4015776
Disease:

ANALBUMINEMIA BAGHDAD

0.700

CausalMutation

CLINVAR

dbSNP:

rs77449454

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0878666
Disease:

Analbuminemia

0.700

CausalMutation

CLINVAR

dbSNP:

rs79228041

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C4015752
Disease:

ALBUMIN B PHENOTYPE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1332629192

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0011860
Disease:

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:

rs770678026

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0002736
Disease:

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

dbSNP:

rs770678026

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0002736
Disease:

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

dbSNP:

rs1332629192

Entrez Id:	213
Gene Symbol:	ALB

ALB

CUI:	C0011881
Disease:

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