Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		0.700 Biomarker disease CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		0.700 GeneticVariation disease UNIPROT AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		0.700 CausalMutation disease CLINVAR