DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy
phenotype Finding 17 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0 1
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 11 54 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0 1
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait
phenotype Finding 50 4 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: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0 1
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0 1
Progressive proximal muscle weakness
phenotype Finding 28 3 0.100 None 0 1
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0 1
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0 1
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 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