Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		disease 0.800 strong 1.000 0 8 2001 2017
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease 0.790 strong 1.000 22 35 1993 2016
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		disease 0.610 strong 1.000 0 3 2001 2014
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.160 None 1.000 0 3 2002 2018
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.140 None 1.000 0 1 2002 2008
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.110 None 1.000 0 1 2003 2003
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 10 2 2002 2015
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 1 2002 2015
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 2 2 2019 2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850573
Disease: Slender build
Slender build 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		phenotype 0.100 None 0 0