RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
Disease: Vitamin A Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.320 GeneticVariation disease BEFREE Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency. 27892788 2017
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.320 Biomarker disease BEFREE Ret heterozygosity increases the incidence and severity of distal bowel aganglionosis induced by vitamin A deficiency in Rbp4(-/-) animals. 20110328 2010
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.320 Biomarker disease CTD_human Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein. 16157297 2005