DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: C0427055
Disease: Facial Paresis
Facial Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.100 None 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis
phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0 1
CUI: C1842161
Disease: Scapuloperoneal weakness
Scapuloperoneal weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 3 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0 1
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
phenotype Finding 49 11 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0 1
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
phenotype Finding 19 1 0.100 None 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
disease Cardiovascular Diseases Disease or Syndrome 9 53 0.100 None 0 3
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness
phenotype Finding 30 0.100 None 0
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 1 0.100 None 0 1
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
phenotype Eye Diseases Finding 50 14 0.100 None 0 1
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity
phenotype Finding 55 3 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0 1
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk
phenotype Finding 37 11 0.100 None 0
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
phenotype Finding 12 1 0.100 None 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 28 0.100 None 0
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy
disease Disease or Syndrome 10 2 0.100 None 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 49 1 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
Concentric hypertrophic cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
Supraventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 11 0.100 None 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 0.100 None 0 1