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: C0009918
Disease: Contracture of joint
Contracture of joint
phenotype Anatomical Abnormality 139 0.110 1.000 1 2003 2003
CUI: C0011847
Disease: Diabetes
Diabetes
disease Disease or Syndrome 1267 349 0.010 < 0.001 1 2015 2015
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.300 strong 1 2006 2006
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.010 1.000 1 2007 2007
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
disease Neoplastic Process 700 25 0.010 1.000 1 2014 2014
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 79 3 0.010 1.000 1 2011 2011
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
disease Disease or Syndrome 26 2 0.010 1.000 1 2010 2010
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: C0038990
Disease: Sweating
Sweating
phenotype Finding 96 0.100 0
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection
group Disease or Syndrome 21 2 0.100 0
CUI: C0151576
Disease: Elevated creatine kinase
Elevated creatine kinase
phenotype Finding 155 0.100 0
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp
disease Disease or Syndrome 18 1 0.100 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Sign or Symptom 116 0.100 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype Finding 70 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Disease or Syndrome 258 3 0.100 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Finding 80 1 0.100 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 65 0.100 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital Abnormality 279 6 0.100 0
Creatine phosphokinase serum increased
phenotype Finding 158 16 0.100 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
phenotype Anatomical Abnormality 135 0.100 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma
disease Disease or Syndrome 14 0.100 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
phenotype Acquired Abnormality 51 4 0.100 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 108 1 0.100 0