JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0497327
Disease: Dementia
Dementia 		0.120 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011253
Disease: Delusions
Delusions 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0085632
Disease: Apathy
Apathy 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		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: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0240735
Disease: Personality Change
Personality Change 		0.100 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.100 Biomarker group HPO
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		0.100 Biomarker phenotype HPO
CUI: C0542476
Disease: Forgetful
Forgetful 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO