Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.800 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.800 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		0.610 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		0.610 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		0.100 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 Biomarker HPO