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: C3280226
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 		0.600 GeneticVariation disease UNIPROT Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. 21835308 2011
CUI: C3280226
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 		0.600 GermlineCausalMutation disease ORPHANET Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. 21835308 2011
CUI: C3280226
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.400 Biomarker phenotype GENOMICS_ENGLAND Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. 17304550 2007
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.400 Biomarker phenotype HPO
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.310 GeneticVariation disease BEFREE Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. 21835308 2011
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.310 Biomarker disease CTD_human
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		0.300 Biomarker disease CTD_human
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.300 Biomarker disease CTD_human
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 Biomarker disease CTD_human
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.300 Biomarker disease CTD_human
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		0.300 Biomarker disease CTD_human
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