rs781028867, FTO

N. diseases: 3
Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
CUI: C2752001
Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
0.800 GeneticVariation UNIPROT Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay. 26378117 2016
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
CUI: C2752001
Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
0.800 GeneticVariation UNIPROT FTO variant associated with malformation syndrome. 26697951 2016
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
CUI: C2752001
Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
0.800 GeneticVariation UNIPROT N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO. 22002720 2011
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
CUI: C2752001
Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
0.800 GeneticVariation UNIPROT Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. 19559399 2009
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
CUI: C2752001
Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
0.800 CausalMutation CLINVAR