Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 Biomarker BEFREE In this study we highlight the evidence that X-linked early-onset Parkinsonism associated with Intellectual Disability occurs as a pattern of clinical and neuroimaging features attributable to RAB39B pathogenic variants. 28851564

2017

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 Biomarker BEFREE On the other hand, nonsense and missense mutations of the X-chromosome localized RAB39B were shown to underlie X-linked intellectual disability (ID) in male patients with early-onset PD. 27925204

2017

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 GeneticVariation BEFREE Mutations in Ras-related protein Rab-39B (RAB39B) gene have been linked to X-linked early-onset Parkinsonism with intellectual disabilities. 27459931

2016

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 GeneticVariation BEFREE Mutations in the RAB39B gene cause intellectual disability comorbid with autism spectrum disorder and epilepsy, but the impact of RAB39B loss of function on synaptic activity is largely unexplained. 25784538

2015

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 GeneticVariation BEFREE More recently, mutations in the RAB39B gene (RAB39B, member RAS oncogene family) have been reported to cause X-linked intellectual disability and early-onset PD with α-synuclein pathology. 26163985

2015

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 GeneticVariation BEFREE Genetic analysis of an Australian family with three males displaying clinical features of early-onset parkinsonism and intellectual disability identified a ∼45 kb deletion resulting in the complete loss of RAB39B. 25434005

2014

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.460 Biomarker HPO