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: C0085666
Disease: Spider nevus
Spider nevus 		0 2 0 0 1 6.2E-02
CUI: C0392707
Disease: Atopy
Atopy 		0 11 0 0 1 4.0E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 1.7E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 1.7E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 1.8E-03 0 0
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		145 0 1 1.8E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 1.8E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 1.8E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 1.8E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 1.9E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 1.9E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 1.9E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 1.9E-03 0 0
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		100 0 1 1.9E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.9E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 1.9E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 1.9E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 2.0E-03 0 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		88 0 1 2.0E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.0E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.0E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 2.0E-03 0 0
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		82 0 1 2.0E-03 0 0
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		82 0 1 2.0E-03 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 1 2.0E-03 0 0