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: C0036572
Disease: Seizures
Seizures 		2152 553 112 5.0E-02 3 4.6E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 18 4.8E-02 1 2.0E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 35 2.6E-02 2 4.6E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 14 4.3E-02 1 2.9E-03
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		649 224 12 1.5E-02 1 3.1E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 21 2.9E-02 1 3.4E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 11 1.7E-02 1 3.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 49 4.5E-02 1 3.8E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 5 2.1E-02 1 4.6E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 16 2.1E-02 1 4.8E-03
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		2 81 1 5.5E-03 2 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 56 7.8E-02 1 5.6E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 28 4.8E-02 2 1.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 11 2.7E-02 1 5.8E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 65 9 2.5E-02 1 6.1E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 40 6.4E-02 1 6.1E-03
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 3 1.0E-02 1 6.3E-03
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 6 2.7E-02 1 6.3E-03
CUI: C0009806
Disease: Constipation
Constipation 		424 57 32 5.6E-02 1 6.4E-03
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 18 5.1E-02 1 6.7E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 26 9.2E-02 1 6.7E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 21 3.9E-02 1 6.7E-03
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		1 40 1 5.6E-03 1 7.1E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 32 5.6E-02 1 7.2E-03
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 12 4.6E-02 2 1.4E-02