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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.340 GeneticVariation disease BEFREE ATIC 347C>G gene polymorphism may be associated with methotrexate-induced adverse events in south Indian Tamil rheumatoid arthritis. 26799664 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.340 GeneticVariation disease BEFREE The results of the study suggest that ATIC missense rs2372536 SNP may influence response to MTX therapy in rheumatoid arthritis patients. 27885916 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.340 GeneticVariation disease BEFREE MTHFR, DHFR and ATIC genetic variants can be considered as pharmacogenetic markers of outcome in RA patients under MTX monotherapy. 25084201 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.340 Biomarker disease CTD_human Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. 19193698 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.340 GeneticVariation disease LHGDN Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. 15457444 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0013221
Disease: Drug toxicity
Drug toxicity 		0.300 Biomarker group CTD_human Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis. 16947783 2006
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		0.300 Biomarker group CTD_human Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis. 16947783 2006
CUI: C0155003
Disease: Blindness, Transient
Blindness, Transient 		0.300 Biomarker phenotype CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C0221473
Disease: Blindness, Hysterical
Blindness, Hysterical 		0.300 Biomarker phenotype CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		0.300 Biomarker disease CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		0.300 Biomarker disease CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C0376288
Disease: Amaurosis
Amaurosis 		0.300 Biomarker disease CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C0456909
Disease: Blindness
Blindness 		0.300 Biomarker phenotype CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C0750958
Disease: Blindness, Monocular
Blindness, Monocular 		0.300 Biomarker disease CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		0.300 Biomarker phenotype CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004