COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 143; N. variants: 22
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: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 13 1 2001 2017
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.300 strong 8 1998 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 202 29 0.040 4 2002 2008
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 137 0.300 1 2009 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 370 33 0.300 1 2017 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.300 strong 1 2006 2006
Congenital hereditary muscular dystrophy
disease Congenital Abnormality; Disease or Syndrome 1 0.200 1 2013 2013
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
disease Disease or Syndrome 1 6 0.600 1 6 2015 2015
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Disease or Syndrome 29 0.300 1 2017 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 2002 2002
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
disease Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 1 2009 2009
CUI: C1838869
Disease: Proximal neurogenic muscle weakness
Proximal neurogenic muscle weakness
phenotype Sign or Symptom 70 2 0.100 0
Neurogenic muscle atrophy, especially in the lower limbs
phenotype Finding 214 0.100 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation
phenotype Finding 6 0.100 0
Increased variability in muscle fiber diameter
phenotype Finding 29 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
Mildly elevated creatine phosphokinase
phenotype Finding 26 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C1850573
Disease: Slender build
Slender build
phenotype Finding 15 0.100 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis
phenotype Pathologic Function 7 0.100 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists
phenotype Finding 4 0.100 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles
phenotype Finding 3 0.100 0
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers
phenotype Finding 4 0.100 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture
phenotype Finding 15 0.100 0
CUI: C1833142
Disease: contracture of elbow
contracture of elbow
phenotype Acquired Abnormality 47 0.100 0