COL6A1, collagen type VI alpha 1 chain, 1291

N. diseases: 164; N. variants: 45
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: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		disease Disease or Syndrome 7 0.060 None 1.000 6 2003 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype Finding 54 8 0.100 None 0 2
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
Failure of exfoliation of primary tooth 		phenotype Disease or Syndrome 12 1 0.100 None 0 1
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		phenotype Finding 3 1 0.100 None 0 1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0 2
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease Acquired Abnormality 15 4 0.100 None 0 1
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype Finding 50 4 0.100 None 0 1
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		phenotype Finding 4 2 0.100 None 0 1
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0 1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0 1
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0 1
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease Disease or Syndrome 56 6 0.100 None 0 1
CUI: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 40 5 0.100 None 0 1
CUI: C1834124
Disease: Shield chest
Shield chest 		phenotype Finding 12 2 0.100 None 0 1
CUI: C1835993
Disease: Loss of ability to walk in early childhood
Loss of ability to walk in early childhood 		phenotype Finding 4 1 0.100 None 0 1
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		phenotype Finding 28 3 0.100 None 0