rs1135402761, SYT1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BAKER-GORDON SYNDROME
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
0.800 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
BAKER-GORDON SYNDROME
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
0.800 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
BAKER-GORDON SYNDROME
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
0.800 CausalMutation CLINVAR
BAKER-GORDON SYNDROME
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
0.800 GeneticVariation UNIPROT
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 GeneticVariation CLINVAR
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR