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: C0152421
Disease: Macrotia
Macrotia 		188 0 1 1.5E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 1.6E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 1.6E-03 0 0
CUI: C0424678
Disease: Lean body mass
Lean body mass 		144 0 1 1.6E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 1.6E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 1.6E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 1.6E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.7E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 1.7E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 1.7E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 1.7E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 1 1.7E-03 0 0
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		109 0 1 1.7E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 1.7E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.7E-03 0 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		99 0 1 1.7E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.7E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.7E-03 0 0
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		92 0 1 1.7E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.7E-03 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.7E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.8E-03 0 0
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		83 0 1 1.8E-03 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 0 1 1.8E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.8E-03 0 0