ALB, albumin, 213

N. diseases: 1198; N. variants: 21
Disease: Hyperthyroxinemia, Familial Dysalbuminemic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75002628
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
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
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
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
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
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
rs75002628
Entrez Id: 213
Gene Symbol: ALB
ALB
CUI: C0342185
Disease:
Hyperthyroxinemia, Familial Dysalbuminemic 		C 0.820 GeneticVariation CLINVAR
dbSNP: rs77892378
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
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
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
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
rs77892378
Entrez Id: 213
Gene Symbol: ALB
ALB
CUI: C0342185
Disease:
Hyperthyroxinemia, Familial Dysalbuminemic 		C 0.800 GeneticVariation CLINVAR