SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Disease: BAKER-GORDON SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GermlineCausalMutation disease ORPHANET SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GeneticVariation disease CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GeneticVariation disease UNIPROT SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GeneticVariation disease CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GeneticVariation disease CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GermlineCausalMutation disease ORPHANET Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GeneticVariation disease UNIPROT Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 GeneticVariation disease UNIPROT Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.600 CausalMutation disease CLINVAR