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: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		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: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		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: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0014877
Disease: Esotropia
Esotropia 		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: C0025990
Disease: Micrognathism
Micrognathism 		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: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		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: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		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: 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: 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: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		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
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: 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: C1857482
Disease: Slender finger
Slender finger 		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: C1861403
Disease: Variable expressivity
Variable expressivity 		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: C0006625
Disease: Cachexia
Cachexia 		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: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		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: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		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: C0040485
Disease: Torticollis
Torticollis 		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: 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: C0231712
Disease: Waddling gait
Waddling gait 		phenotype 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype 0.100 None 0 0