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: C1623038
Disease:
Cirrhosis
0.010 GeneticVariation BEFREE We used PCR to analyze 188 patients with HCV-related liver disease (95 with chronic hepatitis and 93 with cirrhosis) for TIMP-1 372 T/C and TIMP-2 -418 G/C polymorphisms. 23563628 2013
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0023890
Disease:
Liver Cirrhosis
0.010 GeneticVariation BEFREE We used PCR to analyze 188 patients with HCV-related liver disease (95 with chronic hepatitis and 93 with cirrhosis) for TIMP-1 372 T/C and TIMP-2 -418 G/C polymorphisms. 23563628 2013
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0019189
Disease:
Hepatitis, Chronic
0.010 GeneticVariation BEFREE We used PCR to analyze 188 patients with HCV-related liver disease (95 with chronic hepatitis and 93 with cirrhosis) for TIMP-1 372 T/C and TIMP-2 -418 G/C polymorphisms. 23563628 2013
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE We used PCR to analyze 188 patients with HCV-related liver disease (95 with chronic hepatitis and 93 with cirrhosis) for TIMP-1 372 T/C and TIMP-2 -418 G/C polymorphisms. 23563628 2013
dbSNP: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0019196
Disease:
Hepatitis C
0.020 GeneticVariation BEFREE We used PCR to analyze 188 patients with HCV-related liver disease (95 with chronic hepatitis and 93 with cirrhosis) for TIMP-1 372 T/C and TIMP-2 -418 G/C polymorphisms. 23563628 2013
dbSNP: rs397514679
rs397514679
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0014547
Disease:
Epilepsies, Partial
0.010 GeneticVariation BEFREE We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder. 26096837 2015
dbSNP: rs6520278
rs6520278
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE We provide evidence for an association of at least 2 X-chromosomal genes with RA: TIMP1 (rs6520278) and IL9R (rs3093457). 19723899 2009
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0852036
Disease:
Pregnancy associated hypertension
0.010 GeneticVariation BEFREE We examined whether TIMP-1 polymorphism (g.-9830T>G, rs2070584) modifies plasma MMP-9 and TIMP-1 levels and the response to antihypertensive therapy in 596 pregnant: 206 patients with preeclampsia (PE), 183 patients with gestational hypertension (GH) and 207 healthy pregnant controls. 24913092 2014
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: 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: rs4898
rs4898
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0038013
Disease:
Ankylosing spondylitis
0.010 GeneticVariation BEFREE To evaluate the effects of the MMP-3 -1171 and TIMP-1 372 T>C polymorphisms on the modified risk of AS. 19019896 2009
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). 23819551 2013
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). 23819551 2013
dbSNP: rs2070584
rs2070584
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). 23819551 2013
dbSNP: rs5906435
rs5906435
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0266929
Disease:
Chronic Periodontitis
0.010 GeneticVariation BEFREE TIMP1 showed association with chronic periodontitis in the Brazilian population (for rs5906435, p = 0.0004), whereas MMP3 showed association in the US population (for rs679620, p = 0.0003; and rs650108, p = 0.002) and in the Brazilian population (for rs639752, p = 0.005). 22671570 2012
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: rs1142636
rs1142636
Entrez Id: 6853
Gene Symbol: SYN1
SYN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE These results suggest that the C allele of a synonymous SNP (rs1142636, Asn170Asn, Xp11.23) in SYN1 may be a risk factor for the susceptibility of Koreran female schizophrenia. 22807112 2012
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: 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: 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: 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: 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