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: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		2 4 2 0.29 1 0.25
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 0.29 0 0
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 0.29 1 1.00
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: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		3 0 2 0.25 0 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy 		3 0 2 0.25 0 0
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		3 1 2 0.25 1 1.00
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		3 3 2 0.25 1 0.33
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 2 0.22 1 0.25
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		4 3 2 0.22 1 0.33
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		4 1 2 0.22 1 1.00
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: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		10 0 3 0.21 0 0
CUI: C0233417
Disease: Poor concentration
Poor concentration 		5 0 2 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: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 2 0.18 1 0.25
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
CUI: C4476759
Disease: Stooped posture
Stooped posture 		6 0 2 0.18 0 0
CUI: C0548923
Disease: Burn infection
Burn infection 		7 0 2 0.17 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 2 0.17 0 0