Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.43 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.43 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 0.43 0 0
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 3 0.38 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 3 0.33 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.33 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.33 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 4 0.31 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 0.29 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 2 0.29 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 0 2 0.29 0 0
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		2 0 2 0.29 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 3 0.27 0 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		3 0 2 0.25 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 3 0.25 0 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy 		3 0 2 0.25 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 0.24 0 0
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		4 0 2 0.22 0 0
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 0 2 0.22 0 0
CUI: C0233417
Disease: Poor concentration
Poor concentration 		5 0 2 0.20 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 4 0.20 0 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 0 2 0.20 0 0
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		6 0 2 0.18 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 2 0.18 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 2 0.18 0 0