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

CLINVAR

dbSNP:

rs77892378

ALB

CUI:	C0342185
Disease:	Hyperthyroxinemia, Familial Dysalbuminemic

Hyperthyroxinemia, Familial Dysalbuminemic

0.800

GeneticVariation

CLINVAR

dbSNP:

rs79228041

ALB

CUI:	C4015752
Disease:	ALBUMIN B PHENOTYPE

ALBUMIN B PHENOTYPE

0.700

CausalMutation

CLINVAR

dbSNP:

rs77449454

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:

rs77335374

ALB

CUI:	C0878666
Disease:	Analbuminemia

Analbuminemia

0.700

CausalMutation

CLINVAR

dbSNP:

rs75353611

ALB

CUI:	C3889611
Disease:	ALBUMIN BLENHEIM PHENOTYPE

ALBUMIN BLENHEIM PHENOTYPE

0.700

CausalMutation

CLINVAR

dbSNP:

rs74821926

ALB

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

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1

0.700

CausalMutation

CLINVAR

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:	C0020551
Disease:	Hyperthyroxinemia

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

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:

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:

rs770678026

ALB

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

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:

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:

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:

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

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

7937781

1994

dbSNP:

rs770678026

ALB

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

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:

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:

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:

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:

rs374651285

ALB

CUI:	C0027765
Disease:	nervous system disorder

nervous system disorder

0.010

GeneticVariation

BEFREE

Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge.

31230104

2019

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:

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:

rs11538209

ALB

CUI:	C0020538
Disease:	Hypertensive disease

Hypertensive disease

0.010

GeneticVariation

BEFREE

Our data suggest that T29C TGFbeta1 gene polymorphism was associated to clinical characteristics suitable to recognize hypertensives with a higher severity of hypertension.

18821144

2008