Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
0.720 CausalMutation disease CLINVAR
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
0.720 Biomarker disease GENOMICS_ENGLAND
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
0.710 CausalMutation disease CLINVAR
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.410 Biomarker disease HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia
0.400 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.110 Biomarker group HPO
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
0.100 Biomarker disease HPO
CUI: C0004158
Disease: Athetosis
Athetosis
0.100 Biomarker phenotype HPO
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 Biomarker disease HPO
CUI: C0014591
Disease: Epistaxis
Epistaxis
0.100 Biomarker phenotype HPO
CUI: C0018681
Disease: Headache
Headache
0.100 Biomarker phenotype HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
0.100 Biomarker phenotype HPO
CUI: C0027497
Disease: Nausea
Nausea
0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.100 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.100 Biomarker disease HPO
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.100 Biomarker phenotype HPO
CUI: C0085602
Disease: Polydipsia
Polydipsia
0.100 Biomarker phenotype HPO
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.100 Biomarker disease HPO
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
0.100 Biomarker disease HPO
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage
0.100 Biomarker group HPO
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
0.100 Biomarker disease HPO
Second degree atrioventricular block
0.100 Biomarker disease HPO
Complex partial seizure with impairment of consciousness
0.100 Biomarker disease HPO
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy
0.100 Biomarker disease HPO