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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 1.9E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.0E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 2.0E-03 0 0
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 2.0E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.0E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.0E-03 0 0
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		145 0 1 2.1E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 2.1E-03 0 0
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		139 0 1 2.1E-03 0 0
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		139 0 1 2.1E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 2.1E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 2.1E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.1E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.1E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 2.1E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 2.2E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.2E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.2E-03 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 1 2.2E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.2E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 2.2E-03 0 0
CUI: C0033774
Disease: Pruritus
Pruritus 		107 0 1 2.2E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.2E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.2E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.2E-03 0 0