Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		0.110 GeneticVariation phenotype CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		0.110 GeneticVariation phenotype BEFREE A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms. 28891236 2017
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 GeneticVariation phenotype CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.100 GeneticVariation disease CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 GeneticVariation disease CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 GeneticVariation phenotype CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 GeneticVariation group CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		0.100 GeneticVariation phenotype CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C4021577
Disease: Abnormality of somatosensory evoked potentials
Abnormality of somatosensory evoked potentials 		0.100 GeneticVariation phenotype CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 GeneticVariation group BEFREE A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms. 28891236 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 GeneticVariation phenotype BEFREE Whole exome sequencing reveals a functional mutation in the GAIN domain of the Bai2 receptor underlying a forward mutagenesis hyperactivity QTL. 28894906 2017
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 AlteredExpression disease BEFREE Our results point out that BAI2 controls VEGF transcription through GABP under normal conditions and cerebral ischemia. 16412436 2006
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE Our results indicate that the expression and distribution of BAI3 in normal brain, but not its developmental expression, are very similar to those of BAI1 and BAI2, and that BAI3 may participate in the early phases of ischemia-induced brain angiogenesis and in brain tumor progression. 15225653 2004