Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 22419483

2012
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 22419483

2012
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. 15040442

2004
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. 15040442

2004