Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease BEFREE Additionally, this virus induced high-titer neutralizing antibodies against the WT WSN, A/Puerto Rico/8/1934 (PR8), or A/California/04/2009 (CA04) viruses and provided 100% protection against the WT WSN virus. 29765910 2018
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 GeneticVariation disease BEFREE RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. 28851564 2017
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease BEFREE Three sets of DNA vector-based shRNA, two targeting genes encoding the polymerase acidic protein (PA) and one targeting polymerase basic protein 2 (PB2), efficiently inhibited the replication of influenza virus A/WSN/33(H1N1) in vitro. 28380007 2017
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort. 27838047 2017
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CLINGEN RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. 28851564 2017
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease GENOMICS_ENGLAND A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. 27943471 2016
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease GENOMICS_ENGLAND RAB39B gene mutations are not linked to familial Parkinson's disease in China. 27694831 2016
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CLINGEN Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. 27066548 2015
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CLINGEN The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. 25784538 2015
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 GeneticVariation disease UNIPROT Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. 27066548 2015
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 GeneticVariation disease UNIPROT The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. 26399558 2015
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease BEFREE To understand the role of the NS1 C-terminal region in regulation of antiviral responses, we engineered influenza viruses expressing C-terminally truncated NS1 proteins using A/WSN/33(H1N1) reverse genetics and tested them in human macrophages and in mice. 25934792 2015
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CLINGEN Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 25434005 2014
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 GermlineCausalMutation disease ORPHANET Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 25434005 2014
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 GeneticVariation disease UNIPROT Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 25434005 2014
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CLINGEN Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 20159109 2010
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CLINGEN A de novo paradigm for mental retardation. 21076407 2010
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 AlteredExpression disease BEFREE Several WSN strain-specific nucleotide differences from the previously-determined sequence of NS1 mRNA from the PR8 (H0N1) strain of influenza A virus, were located within these sequences. 3094582 1986
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 Biomarker disease CTD_human
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome
0.750 CausalMutation disease CLINVAR