Disease: Waisman syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777874
rs587777874
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. 27066548 2015
dbSNP: rs587777874
rs587777874
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		0.800 GeneticVariation UNIPROT The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. 26399558 2015
dbSNP: rs864309527
rs864309527
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. 27066548 2015
dbSNP: rs864309527
rs864309527
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		0.800 GeneticVariation UNIPROT The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. 26399558 2015
dbSNP: rs587777874
rs587777874
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		0.800 GeneticVariation UNIPROT Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 25434005 2014
dbSNP: rs864309527
rs864309527
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		0.800 GeneticVariation UNIPROT Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 25434005 2014
dbSNP: rs587777874
rs587777874
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs864309527
rs864309527
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C0796195
Disease:
Waisman syndrome 		T 0.800 CausalMutation CLINVAR