ALB, albumin, 213

N. diseases: 1198; N. variants: 21
Disease: Analbuminemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.400 GermlineCausalMutation phenotype ORPHANET Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. 15996651 2005
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.400 CausalMutation phenotype CLINVAR Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. 15996651 2005
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.400 CausalMutation phenotype CLINVAR Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. 15300429 2004
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.400 GermlineCausalMutation phenotype ORPHANET The paradox is that analbuminemia is extremely rare (frequency < 1 x 10(6)); yet the virtual absence of albumin is tolerable despite its multiple functions. 7937781 1994
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.400 CausalMutation phenotype CLINVAR The paradox is that analbuminemia is extremely rare (frequency < 1 x 10(6)); yet the virtual absence of albumin is tolerable despite its multiple functions. 7937781 1994