SYT14, synaptotagmin 14, 255928

N. diseases: 34; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE These data indicate that SYT14 is highly expressed in glioma cells, and may participate in glioma cell proliferation, apoptosis, and colony formation. 29634997 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE However, the functional mechanism of SYT14 in human glioma tumorigenesis remains unclear. 29634997 2018
CUI: C3541994
Disease: Drug Hypersensitivity Syndrome
Drug Hypersensitivity Syndrome 		0.010 Biomarker disease BEFREE HLA-B genotypes of 15 patients with dapsone-induced SCARs (11 drug reaction with eosinophilia and systemic symptoms, 4 Stevens-Johnson syndrome/toxic epidermal necrolysis), 29 control patients, and 986 subjects from the general Thai population were determined by the reverse PCR sequence-specific oligonucleotides probe. 28885988 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE Synaptotagmins are associated with exocytosis of secretory vesicles (including synaptic vesicles), indicating that the alteration of the membrane-trafficking machinery by the SYT14 mutation may represent a distinct pathomechanism associated with human neurodegenerative disorders. 21835308 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Because members of the synaptotagmin family of proteins function as sensors that link changes in calcium levels with a variety of biological processes, including neurotransmission and hormone-responsiveness, SYT14 is an intriguing candidate gene for the abnormal development in this child. 17304550 2007
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype LHGDN Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. 17304550 2007
CUI: C0333641
Disease: Atrophic
Atrophic 		0.010 GeneticVariation phenotype LHGDN Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. 17304550 2007
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 GeneticVariation disease GWASCAT Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. 31235808 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASCAT Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis. 30013178 2018
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.100 GeneticVariation disease GWASCAT Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis. 30013178 2018
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASDB A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469 2010
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		0.100 Biomarker phenotype HPO