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: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		5 2 1 0.20 1 0.50
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 3 1 3.3E-02 1 0.33
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 8 1 9.3E-03 1 0.12
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 8.9E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 8 1 7.8E-03 1 0.12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.3E-03 1 4.1E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 1 6.0E-03 1 8.2E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 2 1 5.9E-03 1 0.50
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 27 1 5.3E-03 1 3.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 1 2.4E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 4.1E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 1 1.7E-03 1 2.1E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.2E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		3111 0 1 3.2E-04 0 0