SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0025322
Disease:
Premature Menopause
0.010 GeneticVariation BEFREE The aim of our study was to investigate whether the TIMP polymorphisms TIMP1T > C (rs4898), TIMP1G > A (rs6609533), TIMP2G > C (rs8179090), TIMP2G > A (rs2277698), TIMP3G > A (rs135029), and TIMP4T > C (rs3755724), which regulate matrix metalloproteinases (MMPs), confer a risk for primary ovarian insufficiency (POI) in Korean women (further studies would be required to evaluate the associations between TIMP polymorphisms and POI in other populations). 30583769 2019
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0085215
Disease:
Ovarian Failure, Premature
0.010 GeneticVariation BEFREE Among the four TIMP loci, the TIMP1T > C (rs4898), TIMP1G > A (rs6609533), TIMP2G > C (rs8179090), TIMP2G > A (rs2277698), TIMP3G > A (rs135029), and TIMP4T > C (rs3755724) haplotypes were identified more frequently in POI patients than in control subjects and conferred susceptibility to POI (P <0.0001). 30583769 2019
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE To investigate the possible association between MMP-9 (-1562 C/T) and TIMP-1 (372 T/C) polymorphism and inflammatory markers with disease activity in systemic lupus erythematosus (SLE) patients. 30561224 2019
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0025322
Disease:
Premature Menopause
0.010 GeneticVariation BEFREE The aim of our study was to investigate whether the TIMP polymorphisms TIMP1T > C (rs4898), TIMP1G > A (rs6609533), TIMP2G > C (rs8179090), TIMP2G > A (rs2277698), TIMP3G > A (rs135029), and TIMP4T > C (rs3755724), which regulate matrix metalloproteinases (MMPs), confer a risk for primary ovarian insufficiency (POI) in Korean women (further studies would be required to evaluate the associations between TIMP polymorphisms and POI in other populations). 30583769 2019
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0085215
Disease:
Ovarian Failure, Premature
0.010 GeneticVariation BEFREE Among the four TIMP loci, the TIMP1T > C (rs4898), TIMP1G > A (rs6609533), TIMP2G > C (rs8179090), TIMP2G > A (rs2277698), TIMP3G > A (rs135029), and TIMP4T > C (rs3755724) haplotypes were identified more frequently in POI patients than in control subjects and conferred susceptibility to POI (P <0.0001). 30583769 2019
dbSNP: rs397514679
rs397514679
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0476254
Disease:
Dyslexia
0.010 GeneticVariation BEFREE A new Q555X mutation on the SYN1 gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. 29671924 2018
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0018801
Disease:
Heart failure
0.010 GeneticVariation BEFREE Thus, our findings do not support the hypothesis that the 372 T > C (Phe124Phe) polymorphism in the TIMP-1 gene and the -418 G > C polymorphism in the TIMP-2 gene are associated with HF susceptibility and prognosis in Southern Brazilians. 29930267 2018
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE Thus, our findings do not support the hypothesis that the 372 T > C (Phe124Phe) polymorphism in the TIMP-1 gene and the -418 G > C polymorphism in the TIMP-2 gene are associated with HF susceptibility and prognosis in Southern Brazilians. 29930267 2018
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The present study aimed to evaluate the contribution of TIMP1 rs4898, rs6609533 and rs2070584 genetic polymorphisms to the risk of lung cancer. 26722039 2016
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The present study aimed to evaluate the contribution of TIMP1 rs4898, rs6609533 and rs2070584 genetic polymorphisms to the risk of lung cancer. 26722039 2016
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The present study aimed to evaluate the contribution of TIMP1 rs4898, rs6609533 and rs2070584 genetic polymorphisms to the risk of lung cancer. 26722039 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The CC genotype of TIMP1 rs4898 compared to the TT wild-type genotype may increase lung cancer risk in Taiwan and may serve as a marker for early detective and predictive purposes. 26722039 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The CC genotype of TIMP1 rs4898 compared to the TT wild-type genotype may increase lung cancer risk in Taiwan and may serve as a marker for early detective and predictive purposes. 26722039 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The CC genotype of TIMP1 rs4898 compared to the TT wild-type genotype may increase lung cancer risk in Taiwan and may serve as a marker for early detective and predictive purposes. 26722039 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The results showed that the percentages of TT, CT and CC for TIMP-1 rs4898 genotypes were 28.5%, 33.2% and 38.3% in the patient group and 34.5%, 41.2% and 24.3% in the non-cancer control group, respectively (p for trend=1.21×10(-5)). 26722039 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The results showed that the percentages of TT, CT and CC for TIMP-1 rs4898 genotypes were 28.5%, 33.2% and 38.3% in the patient group and 34.5%, 41.2% and 24.3% in the non-cancer control group, respectively (p for trend=1.21×10(-5)). 26722039 2016
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800 2016
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The present study aimed to evaluate the contribution of TIMP1 rs4898, rs6609533 and rs2070584 genetic polymorphisms to the risk of lung cancer. 26722039 2016
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The present study aimed to evaluate the contribution of TIMP1 rs4898, rs6609533 and rs2070584 genetic polymorphisms to the risk of lung cancer. 26722039 2016
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The present study aimed to evaluate the contribution of TIMP1 rs4898, rs6609533 and rs2070584 genetic polymorphisms to the risk of lung cancer. 26722039 2016
dbSNP: rs762952014
rs762952014
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0035372
Disease:
Rett Syndrome
0.010 GeneticVariation BEFREE To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene. 27379379 2016
dbSNP: rs397514679
rs397514679
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0454651
Disease:
Specific language impairment
0.010 GeneticVariation BEFREE Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. 26096837 2015