COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; 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: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 3 0.610 strong 1.000 2 3 2001 2014
CUI: C4225638
Disease: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 3 0.100 None 0 3
CUI: C0013570
Disease: Ecthyma, Contagious
Ecthyma, Contagious 		disease Infections; Animal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2004 2004
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 0.310 None 1.000 1 2008 2008
CUI: C0085639
Disease: Falls
Falls 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		phenotype Finding 3 0.100 None 0
CUI: C1867006
Disease: Restricted neck movement due to contractures
Restricted neck movement due to contractures 		phenotype Finding 3 0.100 None 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
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: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		phenotype Finding 5 3 0.100 None 0 1
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		phenotype Finding 5 2 0.100 None 0
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality 6 3 0.100 None 0 1
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		disease Disease or Syndrome 7 0.040 None 1.000 4 2002 2010
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		phenotype Pathologic Function 7 0.100 None 0
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 125 0.010 None 1.000 1 2011 2011
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: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		phenotype Finding 10 0.100 None 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		disease Anatomical Abnormality 10 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: C1866021
Disease: Increased connective tissue
Increased connective tissue 		phenotype Finding 16 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0 1
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 0.790 strong 1.000 31 38 1993 2016
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
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 0.800 strong 1.000 19 13 2001 2017