Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		0.760 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		0.760 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.110 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 24044690

2013
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720

2013
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720

2013
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 24044690

2013
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728

2017