AK9, adenylate kinase 9, 221264

N. diseases: 44; N. variants: 41
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2017 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 36 2017 2017
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 3 2012 2012
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2019 2019
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect
phenotype Finding 61 8 0.100 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 121 8 0.100 None 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle
phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals
disease Anatomical Abnormality 15 0.100 None 0
Weakness of long finger extensor muscles
phenotype Finding 18 0.100 None 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 16 0.100 None 0
Fatigable weakness of respiratory muscles
phenotype Finding 60 0.100 None 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness
phenotype Finding 18 0.100 None 0
CUI: C2830004
Disease: Somnolence
Somnolence
phenotype Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 87 8 0.100 None 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles
phenotype Finding 13 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness
phenotype Finding 16 1 0.100 None 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
phenotype Finding 24 0.100 None 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis
phenotype Finding 19 0.100 None 0