Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		0.100 Biomarker disease HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 GeneticVariation disease BEFREE Somatic and germ line inactivating mutations of PRKAR1 (regulatory subunit R1A of PKA) can be observed in patient with isolated primary pigmented nodular adrenocortical disease (PPNAD) and AA responsible for ACS. 12530696 2002
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		0.010 GeneticVariation disease BEFREE Somatic and germ line inactivating mutations of PRKAR1 (regulatory subunit R1A of PKA) can be observed in patient with isolated primary pigmented nodular adrenocortical disease (PPNAD) and AA responsible for ACS. 12530696 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE With this study, we aimed to investigate the mutation frequency of the major AD and FTD genes and the PRKAR1B gene in a well-defined Dutch cohort of patients with early onset dementia. 25108559 2014
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.100 GeneticVariation group GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0085632
Disease: Apathy
Apathy 		0.100 Biomarker phenotype HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0406810
Disease: Carney Complex
Carney Complex 		0.020 GeneticVariation disease BEFREE Nearly two thirds of CNC patients are heterozygous for inactivating mutations in the gene encoding the protein kinase A (PKA) type I alpha regulatory subunit (RI alpha), PRKAR1. 16728532 2006
CUI: C0406810
Disease: Carney Complex
Carney Complex 		0.020 GeneticVariation disease BEFREE Mutations in the exons or intron-exon boundaries of PRKAR1B (7p22, closely related to PRKAR1A, which is mutated in Carney complex) have been excluded in this family. 16003173 2005
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR
CUI: C0497327
Disease: Dementia
Dementia 		0.010 GeneticVariation disease BEFREE With this study, we aimed to investigate the mutation frequency of the major AD and FTD genes and the PRKAR1B gene in a well-defined Dutch cohort of patients with early onset dementia. 25108559 2014
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		0.100 Biomarker phenotype HPO
CUI: C0542476
Disease: Forgetful
Forgetful 		0.100 Biomarker phenotype HPO
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.120 GeneticVariation disease BEFREE No pathogenic PRKAR1B mutations were found in the early onset AD and FTD patients of our study. 25108559 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.120 Biomarker disease BEFREE Screening of PRKAR1B in 138 patients with Parkinson's disease and 56 patients with frontotemporal dementia did not identify additional novel pathogenic mutations. 24722252 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.120 Biomarker disease HPO
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.010 Biomarker group BEFREE A Novel <i>PRKAR1B-BRAF</i> Fusion in Gastrointestinal Stromal Tumor Guides Adjuvant Treatment Decision-Making During Pregnancy. 29523662 2018
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		0.010 GeneticVariation disease BEFREE Our findings link a pathogenic PRKAR1B mutation to a novel hereditary neurodegenerative disorder and suggest an altered protein kinase A function through a reduced binding of the regulatory subunit to the A-kinase anchoring protein and the catalytic subunit of protein kinase A, which might result in subcellular dislocalization of the catalytic subunit and hyperphosphorylation of intermediate filaments. 24722252 2014
CUI: C0523697
Disease: Histidine measurement
Histidine measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019