CLCN1, chloride voltage-gated channel 1, 1180

N. diseases: 67; N. variants: 95
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: C0027127
Disease: Myotonia Congenita
Myotonia Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 38 0.900 None 0.968 95 37 1982 2019
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 61 0.800 None 0.977 130 61 1992 2019
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 67 0.800 None 1.000 98 67 1992 2018
CUI: C0027125
Disease: Myotonia
Myotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 0.430 None 1.000 4 5 2002 2012
CUI: C0270959
Disease: Myotonia Levior
Myotonia Levior
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.410 None 1.000 2 1 1995 2010
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 30 0.300 None 1.000 1 2012 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 1
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.180 None 1.000 8 1 2000 2019
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness
phenotype Nervous System Diseases Sign or Symptom 92 6 0.150 None 1.000 5 2012 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.110 None 1.000 1 2012 2012
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0 1
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy
phenotype Organ or Tissue Function 21 2 0.100 None 0 1
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0 1
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0 1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C1868623
Disease: Handgrip myotonia
Handgrip myotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 2 0.100 None 0
Muscle hypertrophy of the lower extremities
phenotype Finding 3 0.100 None 0
CUI: C0234664
Disease: Lid lag
Lid lag
phenotype Sign or Symptom 3 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles
disease Anatomical Abnormality 32 6 0.100 None 0 1
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0 1
CUI: C4025576
Disease: EMG: myotonic runs
EMG: myotonic runs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0 1
CUI: C4025575
Disease: Myotonia with warm-up phenomenon
Myotonia with warm-up phenomenon
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C4022683
Disease: Myotonia of the upper limb
Myotonia of the upper limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 2 0.100 None 0 1