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: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 0.14
CUI: C0272275
Disease: Heparin-induced thrombocytopenia with thrombosis
Heparin-induced thrombocytopenia with thrombosis 		0 1 0 0 1 0.14
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism 		0 5 0 0 1 9.1E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 0.14
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 0.14
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 1.6E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 1.8E-03 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 1 1.8E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 1 1.9E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 1.9E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 1.9E-03 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 1 2.0E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 2.0E-03 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 1 2.0E-03 0 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		118 0 1 2.0E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.0E-03 0 0
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		104 0 1 2.0E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.0E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 2.1E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.1E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 2.1E-03 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 1 2.1E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 2.1E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 0 1 2.1E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 2.1E-03 0 0