BRAP, BRCA1 associated protein, 8315

N. diseases: 82; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 Biomarker group BEFREE Individuals in the CNS-IMP cluster were the oldest, with the worst function and more likely to live in a nursing home; those in the HEART cluster had the highest number of co-occurring diseases and drugs, and they exhibited the highest mean values of serum creatinine and C - reactive protein. 31125398 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE In parallel, we found that BRAP knockdown increased tumour growth and invasion and decreased survival in an in vivo glioma xenograft mouse model. 31776938 2020
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation disease BEFREE Effect of dietary energy and polymorphisms in BRAP and GHRL on obesity and metabolic traits. 27245511 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.010 GeneticVariation disease BEFREE Uveal melanoma (UM) remains without effective therapy at the metastatic stage, which is associated with <i>BAP-1</i> (BRCA1 associated protein) mutations. 31146482 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 Biomarker phenotype BEFREE Also, administration with SB or IMP could reverse the hyperactivity of hypothalamic-pituitary-adrenal axis as well as decreased inflammatory cytokines with improved antioxidant status. 31353549 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
0.010 GeneticVariation disease BEFREE Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension. 30703135 2019
Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation disease BEFREE Whole-exome next-generation sequencing was performed in the 2 PAH patients and the proband's healthy mother, and a BRCA1-associated protein (BRAP) gene variant, p.Arg554Leu, was identified in the 2 family members with PAH, but not in the proband's mother without PAH. 30703135 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
0.010 Biomarker disease BEFREE Regional cerebral blood flow (CBF) were obtained from ASL and <sup>123</sup>I-IMP single-photon emission computed tomography (SPECT) images by volume-of-interest analysis in patients with SCD (n = 16). 30216759 2018
CUI: C0003962
Disease: Ascites
Ascites
0.010 Biomarker phenotype BEFREE Complete Genome Sequence of <i>bla</i><sub>IMP-6</sub>-Positive <i>Metakosakonia</i> sp. MRY16-398 Isolate From the Ascites of a Diverticulitis Patient. 30524415 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 Biomarker disease BEFREE In colon CA IAI isolates susceptibilities did not reach 80% for AMK and ETP, and in pancreatic IAIs susceptibilities of HA GNBs did not reach 80% to AMK, TZP and ETP, and CA GNBs to IMP and ETP. 30453893 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.010 Biomarker phenotype BEFREE Using iodine-123-N-isopropyl-p-iodoamphetamine single-photon emission computed tomography (IMP-SPECT), we performed a cross-sectional study of 44 patients with diabetes, and compared CBF in those with (n = 24) and without neuropathic pain (n = 20). 29627772 2018
CUI: C0031212
Disease: Personality Disorders
Personality Disorders
0.010 Biomarker group BEFREE The main difference between groups was ICD-10 diagnosis distribution: in the IMP group more anxiety-related disorders (F4), in the N-IMP group more personality disorders (F6). 28826267 2018
CUI: C0151773
Disease: Bone marrow depression
Bone marrow depression
0.010 Biomarker disease BEFREE All patients receive folic acid 5 mg daily whilst on the trial IMP to reduce the risk of bone marrow depression. 29402332 2018
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
0.010 Biomarker disease BEFREE Regional cerebral blood flow (CBF) were obtained from ASL and <sup>123</sup>I-IMP single-photon emission computed tomography (SPECT) images by volume-of-interest analysis in patients with SCD (n = 16). 30216759 2018
CUI: C0751007
Disease: Intracranial Atherosclerosis
Intracranial Atherosclerosis
0.010 Biomarker disease BEFREE Acetazolamide reactivity on <sup>123</sup> I-IMP SPECT is used to detect misery perfusion due to intracranial atherosclerosis. 29215168 2018
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection
0.010 AlteredExpression group BEFREE In colon CA IAI isolates susceptibilities did not reach 80% for AMK and ETP, and in pancreatic IAIs susceptibilities of HA GNBs did not reach 80% to AMK, TZP and ETP, and CA GNBs to IMP and ETP. 30453893 2018
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 Biomarker disease BEFREE This work characterized mega plasmid pSY153-MDR, carrying <i>bla</i><sub>IMP-45</sub> and <i>armA</i>, from a multidrug-resistant (MDR) <i>Pseudomonas putida</i> isolate from the urine of a cerebral infarction patient in China. 28978128 2017
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.010 GeneticVariation phenotype BEFREE Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. 28635423 2017
CUI: C0036572
Disease: Seizures
Seizures
0.010 GeneticVariation phenotype BEFREE Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. 28635423 2017
Squamous cell carcinoma of esophagus
0.010 AlteredExpression disease BEFREE In patient tumors, 90% of ESCCs examined had higher levels of BRAP protein than paired non-tumor tissues, and 63.8% had gains in BRAP DNA copy number. 28780075 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation disease BEFREE <b>Background:</b> Clear cell renal cell carcinoma (ccRCC) is the most prevalent histologic subtype of kidney cancers in adults, which could be divided into two distinct subgroups according to the <i>BRCA1 associated protein-1</i> (<i>BAP1</i>) mutation status. 28900502 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.010 GeneticVariation disease BEFREE Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. 28635423 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.010 GeneticVariation disease BEFREE <b>Background:</b> Clear cell renal cell carcinoma (ccRCC) is the most prevalent histologic subtype of kidney cancers in adults, which could be divided into two distinct subgroups according to the <i>BRCA1 associated protein-1</i> (<i>BAP1</i>) mutation status. 28900502 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 GeneticVariation group BEFREE After adjustment for clinical factors, kidney function was associated with BRAP rs3782886 and SPATA5L1 rs2467853 and the GRS for CKD that we developed was associated CKD. 29016630 2017
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
0.010 GeneticVariation disease BEFREE Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. 28635423 2017