ACOT7, acyl-CoA thioesterase 7, 11332

N. diseases: 146; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1314714440
rs1314714440
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE The association of ACT -17 A/T polymorphism with Alzheimer's disease: a meta-analysis. 22272609 2013
dbSNP: rs766402526
rs766402526
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE The association of ACT -17 A/T polymorphism with Alzheimer's disease: a meta-analysis. 22272609 2013
dbSNP: rs769564038
rs769564038
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE The association of ACT -17 A/T polymorphism with Alzheimer's disease: a meta-analysis. 22272609 2013
dbSNP: rs1314714440
rs1314714440
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE Previously, a signal peptide polymorphism (codon -17A>T) in the ACT gene has been suggested to affect AD risk, but with inconsistent findings. 16137793 2006
dbSNP: rs766402526
rs766402526
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE Previously, a signal peptide polymorphism (codon -17A>T) in the ACT gene has been suggested to affect AD risk, but with inconsistent findings. 16137793 2006
dbSNP: rs769564038
rs769564038
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE Previously, a signal peptide polymorphism (codon -17A>T) in the ACT gene has been suggested to affect AD risk, but with inconsistent findings. 16137793 2006
dbSNP: rs1034220998
rs1034220998
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827 2017
dbSNP: rs368731455
rs368731455
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE XPD c.934G>A polymorphism of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma patients treated with cisplatin chemoradiation. 26918827 2017
dbSNP: rs758821654
rs758821654
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827 2017
dbSNP: rs765693356
rs765693356
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827 2017
dbSNP: rs993269089
rs993269089
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C2747816
Disease:
Complicated malaria
0.010 GeneticVariation BEFREE Haplotypes that included DDX39B (-22C > G and -348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels. 25038626 2014
dbSNP: rs909221872
rs909221872
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE Our findings suggest that the P33T IPF1 mutation may provide an increased susceptibility to the development of gestational diabetes and MODY4 in the Italy-6 pedigree. 16092045 2005
dbSNP: rs1465262924
rs1465262924
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.010 GeneticVariation BEFREE The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder. 12050213 2002
dbSNP: rs1465262924
rs1465262924
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0342471
Disease:
3 beta-Hydroxysteroid dehydrogenase deficiency
0.010 GeneticVariation BEFREE A missense P222T mutation was seriously detrimental, causing the classic phenotype of 3beta-HSD deficiency. 12050213 2002
dbSNP: rs772953044
rs772953044
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0342541
Disease:
Precocious pubarche
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213 2002
dbSNP: rs772953044
rs772953044
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
CUI: C0040761
Disease:
Transposition of Great Vessels
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213 2002