COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
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: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
disease Disease or Syndrome 1 7 0.720 strong 1.000 4 7 2002 2018
Congenital hereditary muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 1 0.200 None 1.000 1 2013 2013
CUI: C1611706
Disease: Myosclerosis
Myosclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity
phenotype Finding 3 0.100 None 0
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
disease Disease or Syndrome 3 4 0.100 None 0 1
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers
phenotype Finding 4 0.100 None 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists
phenotype Finding 5 1 0.100 None 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles
phenotype Finding 5 0.100 None 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI
phenotype Finding 5 2 0.100 None 0
CUI: C1836149
Disease: Axial dystonia
Axial dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
Ullrich congenital muscular dystrophy
disease Disease or Syndrome 7 0.030 None 1.000 3 2002 2018
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis
phenotype Pathologic Function 7 0.100 None 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 8 0.100 None 0
CUI: C1867138
Disease: Upper limb postural tremor
Upper limb postural tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 74 0.010 None 1.000 1 2010 2010
CUI: C0588125
Disease: Nodular tenosynovitis
Nodular tenosynovitis
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 10 0.010 None 1.000 1 2019 2019
Increased endomysial connective tissue
disease Anatomical Abnormality 10 0.100 None 0
Fibrous histiocytoma of tendon sheath
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 14 0.100 None 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 108 0.800 strong 1.000 29 37 1993 2018
Ullrich congenital muscular dystrophy 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 34 1.000 strong 1.000 17 11 2002 2018
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.300 None 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality 19 6 0.100 None 0