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: 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: 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: 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: 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: 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: 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE Here we reprogrammed primary fibroblasts from two patients with familial Alzheimer's disease, both caused by a duplication of the amyloid-β precursor protein gene (APP; termed APP(Dp)), two with sporadic Alzheimer's disease (termed sAD1, sAD2) and two non-demented control individuals into iPSC lines. 22278060 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Research has demonstrated that SAD1/UNC84 domain protein-2 (SUN2) serves a suppressive role in breast cancer, atypical teratoid/rhabdoid tumors and lung cancer progression. 30675193 2019
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		0.010 GeneticVariation disease BEFREE Analysis using the diagnostic criteria of heroin dependence yielded suggestive evidence for association between variants in the genes CCDC42 (coiled coil domain 42; p = 2.8x10-7) and BRSK2 (BR serine/threonine 2; p = 4.110-6). 27936112 2016
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 Biomarker disease BEFREE Our study suggests BRSK2 may be an autoantigen involved in the pathogenesis of SCLC-associated limbic encephalitis. 16165222 2005
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 AlteredExpression disease BEFREE BRSK2 induced by nutrient deprivation promotes Akt activity in pancreatic cancer via downregulation of mTOR activity. 28591720 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 Biomarker disease BEFREE Interestingly, we found SAD1/UNC84 domain protein-2 (SUN2) gene hypermethylation at CpG sites during liver fibrogenesis in mice with CCl<sub>4</sub>-induced hepatic fibrosis, which was accompanied by low expression of SUN2. 30282980 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Research has demonstrated that SAD1/UNC84 domain protein-2 (SUN2) serves a suppressive role in breast cancer, atypical teratoid/rhabdoid tumors and lung cancer progression. 30675193 2019
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		0.010 Biomarker disease LHGDN Our study suggests BRSK2 may be an autoantigen involved in the pathogenesis of SCLC-associated limbic encephalitis. 16165222 2005
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		0.010 Biomarker disease BEFREE Our study suggests BRSK2 may be an autoantigen involved in the pathogenesis of SCLC-associated limbic encephalitis. 16165222 2005
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 AlteredExpression disease BEFREE BRSK2 induced by nutrient deprivation promotes Akt activity in pancreatic cancer via downregulation of mTOR activity. 28591720 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Research has demonstrated that SAD1/UNC84 domain protein-2 (SUN2) serves a suppressive role in breast cancer, atypical teratoid/rhabdoid tumors and lung cancer progression. 30675193 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE Research has demonstrated that SAD1/UNC84 domain protein-2 (SUN2) serves a suppressive role in breast cancer, atypical teratoid/rhabdoid tumors and lung cancer progression. 30675193 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Research has demonstrated that SAD1/UNC84 domain protein-2 (SUN2) serves a suppressive role in breast cancer, atypical teratoid/rhabdoid tumors and lung cancer progression. 30675193 2019