DNM2, dynamin 2, 1785

N. diseases: 155; N. variants: 19
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.
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 181 5 0.100 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital Abnormality 25 2 0.100 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		phenotype Anatomical Abnormality 135 0.100 0
CUI: C0376175
Disease: Bell Palsy
Bell Palsy 		disease Nervous System Diseases; Stomatognathic Diseases; Virus Diseases Disease or Syndrome 91 0.100 0
CUI: C0424585
Disease: Tires quickly
Tires quickly 		phenotype Finding 31 0.100 0
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 25 0.100 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom 91 3 0.100 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Finding 83 0.100 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		phenotype Sign or Symptom 194 0.100 0
CUI: C0278124
Disease: Absent tendon reflex
Absent tendon reflex 		phenotype Finding 133 0.100 0
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent 		phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 158 16 0.100 0
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		phenotype Eye Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.100 0
CUI: C0151576
Disease: Elevated creatine kinase
Elevated creatine kinase 		phenotype Finding 155 0.100 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 27 1 0.100 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 51 5 0.100 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Finding 70 0.100 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype Finding 80 1 0.100 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Finding 92 0.100 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 7 0.300 strong 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 limited 0
CUI: C4025214
Disease: Sleepy facial expression
Sleepy facial expression 		phenotype Finding 1 0.100 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 51 3 0.100 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		phenotype Finding 26 0.100 0