BRSK2, BR serine/threonine kinase 2, 9024

N. diseases: 33; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker disease GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.310 Biomarker group GENOMICS_ENGLAND Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.310 GeneticVariation group BEFREE Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.300 Biomarker phenotype GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0241240
Disease: Tall stature
Tall stature 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		0.100 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019