Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 23 42
C0026850 Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the musculature 21 48
C0311394 Difficulty walking phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system; Abnormality of the musculature 20 30
C4021726 EMG: myopathic abnormalities phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function Abnormality of the musculature 13 16
C0221629 Proximal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 10 11
C1836450 Distal lower limb muscle weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 9 11
C0241237 Difficulty standing phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the musculature 8 14
C0239067 Difficulty walking up stairs phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the musculature 7 7
C0026847 Spinal Muscular Atrophy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 6 10
C1866141 Foot dorsiflexor weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 5 4
C0427144 Toe-walking gait phenotype Finding Abnormality of the nervous system 4 4
C0560346 Difficulty running phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 3 3
C1389118 Peroneal muscle atrophy disease Disease or Syndrome Abnormality of limbs; Abnormality of the musculature 2 2
C1850889 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 139
C2931687 Dysferlinopathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 57
C1850808 Miyoshi myopathy disease Disease or Syndrome genetic disease; disease of anatomical entity 1 18
C1847532 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 10
C4022631 Absent muscle fiber dysferlin phenotype Finding Abnormality of the musculature 1 1