Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434478
rs121434478
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C1837530
Disease:
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
0.800 GeneticVariation UNIPROT AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004
dbSNP: rs121434478
rs121434478
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C1837530
Disease:
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
G 0.800 CausalMutation CLINVAR
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE ATIC 347C>G gene polymorphism may be associated with methotrexate-induced adverse events in south Indian Tamil rheumatoid arthritis. 26799664 2016
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE The results of the study suggest that ATIC missense rs2372536 SNP may influence response to MTX therapy in rheumatoid arthritis patients. 27885916 2016
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and TS (28-bp tandem repeats located in the TS enhancer region [TSER*2/*3]) and of MTXPGs to the effect of MTX in patients with rheumatoid arthritis. 15457444 2004
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Even though the role of single nucleotide polymorphisms of ATIC in chemotherapy-induced tumor necrosis has not been investigated yet, the ATIC 347C>G polymorphism may influence the levels of adenosine after MTX treatment, which may affect the histologic response of osteosarcoma. 28267080 2017
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE Even though the role of single nucleotide polymorphisms of ATIC in chemotherapy-induced tumor necrosis has not been investigated yet, the ATIC 347C>G polymorphism may influence the levels of adenosine after MTX treatment, which may affect the histologic response of osteosarcoma. 28267080 2017
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Even though the role of single nucleotide polymorphisms of ATIC in chemotherapy-induced tumor necrosis has not been investigated yet, the ATIC 347C>G polymorphism may influence the levels of adenosine after MTX treatment, which may affect the histologic response of osteosarcoma. 28267080 2017
dbSNP: rs12995526
rs12995526
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Two polymorphisms in ATIC and GGH genes were associated with therapeutic efficacy in multivariate analysis: ATIC rs12995526 for tumor response (p = 0.014) and for overall survival (p = 0.006), and GGH rs16930092 (p = 0.009) for PFS. 25823786 2015
dbSNP: rs2372536
rs2372536
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C3495559
Disease:
Juvenile arthritis
0.010 GeneticVariation BEFREE These preliminary results indicate that genotyping of ATIC rs2372536 and ITPA rs1127354 variants or measuring ITPA activity could be useful to predict methotrexate response in children with JIA after validation by further prospective studies on a larger patient cohort. 25240429 2015
dbSNP: rs951055955
rs951055955
Entrez Id: 471
Gene Symbol: ATIC
ATIC
CUI: C0035334
Disease:
Retinitis Pigmentosa
0.010 GeneticVariation BEFREE We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K). 24935155 2014