Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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: 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
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: C0042345
Disease: Varicosity
Varicosity 		0.100 GeneticVariation disease GWASCAT Clinical and Genetic Determinants of Varicose Veins. 30566020 2018
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: 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: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.100 Biomarker group HPO
CUI: C0085632
Disease: Apathy
Apathy 		0.100 Biomarker phenotype HPO
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.100 Biomarker phenotype HPO
CUI: C0233522
Disease: Inappropriate behavior
Inappropriate behavior 		0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.100 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.100 Biomarker group HPO
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.100 Biomarker phenotype HPO