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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 7.7E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 7.7E-04 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 1 7.7E-04 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 7.7E-04 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 1 7.7E-04 0 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		30 0 1 7.7E-04 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 1 7.7E-04 0 0
CUI: C0871215
Disease: Reading Disabilities
Reading Disabilities 		28 0 1 7.8E-04 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 1 7.8E-04 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 1 7.8E-04 0 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 1 7.8E-04 0 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 0 1 7.8E-04 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 1 7.8E-04 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 1 7.8E-04 0 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		24 0 1 7.8E-04 0 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		24 0 1 7.8E-04 0 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 0 1 7.8E-04 0 0
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		23 0 1 7.8E-04 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 1 7.8E-04 0 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		23 0 1 7.8E-04 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 1 7.8E-04 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 1 7.8E-04 0 0
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		23 0 1 7.8E-04 0 0
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		22 0 1 7.8E-04 0 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		22 0 1 7.8E-04 0 0