Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 Biomarker group BEFREE %DET increased and SampEn decreased with increasing Movement-Disorder-Society UPDRS scores, while theta band coherence was significantly correlated with total MDS-UPDRS scores and torque variance. 30583273 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. 25921057 2015
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. 26364555 2015
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 22419483 2012
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. 22436456 2012
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002 2011
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. 21368916 2011
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.110 CausalMutation group CLINVAR Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. 15040442 2004