SYT9, synaptotagmin 9, 143425

N. diseases: 11; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE This finding helps to characterize the unexpected role of SYT9 in homocysteine metabolism and the development of CCSDs, which further highlighted the interplay of diet, genetics, and human birth defects.© 2017 IUBMB Life, 69(9):700-705, 2017. 28834160 2017
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.010 GeneticVariation group BEFREE The intronic SYT9 variant rs11041321, which exhibits a significant genome-wide association with circulating homocysteine, was associated with the occurrence of CCSDs. 28834160 2017
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.010 Biomarker group BEFREE This finding helps to characterize the unexpected role of SYT9 in homocysteine metabolism and the development of CCSDs, which further highlighted the interplay of diet, genetics, and human birth defects.© 2017 IUBMB Life, 69(9):700-705, 2017. 28834160 2017
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.010 Biomarker disease BEFREE In addition to shedding light on cellular mechanisms underlying CS and pointing to future avenues for pharmacological intervention, these data suggest an important role for SYT9 in neuronal differentiation. 26972010 2016
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.010 AlteredExpression disease BEFREE Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the machinery controlling neurotrophin release, bypasses the need for CSB in neuritogenesis. 26972010 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Concordant variants of particular interest were: 1) two rare, highly-conserved heterozygous non-synonymous variants in SYT9 and EWSR1, genes previously associated with ALS (out of 2044 rare heterozygous variants detected); 2) three rare homozygous missense variants; and 3) three novel copy number deletions that overlapped genes. 25960086 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 GeneticVariation disease BEFREE When both stages were combined, we observed suggestive associations with PanCa for rs10887710 (MAT1A) (OR 1.13, 95 %CI 1.04-1.23), rs1552462 (SYT9) (OR 1.27, 95 %CI 1.02-1.59), and rs7074891 (CUBN) (OR 1.91, 95 %CI 1.12-3.26). 23334854 2013
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 GeneticVariation disease BEFREE When both stages were combined, we observed suggestive associations with PanCa for rs10887710 (MAT1A) (OR 1.13, 95 %CI 1.04-1.23), rs1552462 (SYT9) (OR 1.27, 95 %CI 1.02-1.59), and rs7074891 (CUBN) (OR 1.91, 95 %CI 1.12-3.26). 23334854 2013