ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 GeneticVariation phenotype BEFREE We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene. 27075689 2016
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 Biomarker phenotype HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		0.100 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 24044690 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017