Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042345
Disease: Varicosity
Varicosity 		0.100 GeneticVariation disease GWASCAT Clinical and Genetic Determinants of Varicose Veins. 30566020 2018
CUI: C0523957
Disease: Tryptophan measurement
Tryptophan 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
CUI: C3805715
Disease: Short stepped shuffling gait
Short stepped shuffling gait 		0.100 Biomarker phenotype HPO
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.100 Biomarker phenotype HPO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4751505
Disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments
PRKAR1B-related neurodegenerative dementia with intermediate filaments 		0.300 GermlineCausalMutation disease ORPHANET PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. 24722252 2014
CUI: C4751505
Disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments
PRKAR1B-related neurodegenerative dementia with intermediate filaments 		0.300 GermlineCausalMutation disease ORPHANET Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort. 25108559 2014
CUI: C4304832
Disease: Primary pigmented nodular adrenocortical disease
Primary pigmented nodular adrenocortical disease 		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: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		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: C0011265
Disease: Presenile dementia
Presenile 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: C1843921
Disease: Postural instability
Postural instability 		0.100 Biomarker phenotype HPO
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.010 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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.100 Biomarker group HPO
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. 24722252 2014
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.100 Biomarker phenotype HPO
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		0.100 Biomarker phenotype HPO
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.100 Biomarker phenotype HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.100 Biomarker group HPO
CUI: C4022575
Disease: Inertia
Inertia 		0.100 Biomarker phenotype HPO
CUI: C0233522
Disease: Inappropriate behavior
Inappropriate behavior 		0.100 Biomarker phenotype HPO
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		0.100 Biomarker phenotype HPO