SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852561
rs137852561
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C3275408
Disease:
MENTAL RETARDATION, X-LINKED 96 		0.800 GeneticVariation UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
dbSNP: rs137852561
rs137852561
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C3275408
Disease:
MENTAL RETARDATION, X-LINKED 96 		G 0.800 CausalMutation CLINVAR
dbSNP: rs139475570
rs139475570
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C3275408
Disease:
MENTAL RETARDATION, X-LINKED 96 		0.700 GeneticVariation UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
dbSNP: rs199590018
rs199590018
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE We recently identified a male patient with severe intellectual disability, hypotonia, epilepsy and callosal agenesis who has a point mutation in the juxtamembrane region of the fourth transmembrane domain of synaptophysin (T198I). 28887151 2017
dbSNP: rs199590018
rs199590018
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C0175754
Disease:
Agenesis of corpus callosum 		0.010 GeneticVariation BEFREE We recently identified a male patient with severe intellectual disability, hypotonia, epilepsy and callosal agenesis who has a point mutation in the juxtamembrane region of the fourth transmembrane domain of synaptophysin (T198I). 28887151 2017
dbSNP: rs199590018
rs199590018
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Screening of known human synaptophysin mutations revealed a similar presynaptic phenotype between T198I and a mutation found in X-linked intellectual disability. 28887151 2017