ATN1, atrophin 1, 1822

N. diseases: 499; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565569158
rs1565569158
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0018818
Disease:
Ventricular Septal Defects 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1565569158
rs1565569158
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C1860834
Disease:
Infantile muscular hypotonia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1565569158
rs1565569158
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C1857453
Disease:
Renal hypoplasia/aplasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1565569158
rs1565569158
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0476273
Disease:
Respiratory distress 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1382597320
rs1382597320
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE We have previously developed a disease-in-a-dish model for familial PD using induced pluripotent stem cells (iPSCs) from two patients carrying the p.A53T α-synuclein (αSyn) mutation. 30989481 2019
dbSNP: rs1382597320
rs1382597320
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A53T mutant alpha-synuclein (alpha-SynA53T; PD), full-length mutant atrophin-1-65Q, and htt-N171-82Q (huntingtin N-terminal fragment; HD). 17316906 2008
dbSNP: rs148377687
rs148377687
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0206634
Disease:
Liposarcoma, Myxoid 		0.010 GeneticVariation BEFREE The recently described hotspot mutation in the TERT promoter region in myxoid liposarcomas was also found at C228T in DL-221. 27270875 2016
dbSNP: rs2239167
rs2239167
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE The two most significant associations identified were for the C6orf10 SNP rs6910071 and "rheumatoid arthritis" (ICD-9 code category 714) (pMETAL = 2.58 x 10-9) and the ATN1 SNP rs2239167 and "diabetes mellitus, type 2" (ICD-9 code category 250) (pMETAL = 6.39 x 10-9). 27508393 2016
dbSNP: rs2239167
rs2239167
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.010 GeneticVariation BEFREE The two most significant associations identified were for the C6orf10 SNP rs6910071 and "rheumatoid arthritis" (ICD-9 code category 714) (pMETAL = 2.58 x 10-9) and the ATN1 SNP rs2239167 and "diabetes mellitus, type 2" (ICD-9 code category 250) (pMETAL = 6.39 x 10-9). 27508393 2016
dbSNP: rs138470711
rs138470711
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE In the present work, we describe two additional families affected by adRP that carry a heterozygous c.166G>A (p.G56R) mutation in the NR2E3 gene. 19006237 2009
dbSNP: rs1382597320
rs1382597320
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.010 GeneticVariation BEFREE These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A53T mutant alpha-synuclein (alpha-SynA53T; PD), full-length mutant atrophin-1-65Q, and htt-N171-82Q (huntingtin N-terminal fragment; HD). 17316906 2008
dbSNP: rs1382597320
rs1382597320
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0020179
Disease:
Huntington Disease 		0.010 GeneticVariation BEFREE These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A53T mutant alpha-synuclein (alpha-SynA53T; PD), full-length mutant atrophin-1-65Q, and htt-N171-82Q (huntingtin N-terminal fragment; HD). 17316906 2008
dbSNP: rs1208917022
rs1208917022
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808 2007
dbSNP: rs1208917022
rs1208917022
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808 2007
dbSNP: rs1208917022
rs1208917022
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0018790
Disease:
Cardiac Arrest 		0.010 GeneticVariation BEFREE No mtDNA A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T mutation was detected in any of the 265 ataxia patients, suggesting that the upper limit of the 95% confidence interval for the prevalence of these mitochondrial mutations in Chinese patients with adult-onset non-SCA ataxia is no higher than 1.1%. 17300808 2007