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: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 31 0.14 6 8.8E-02
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 6 20 0.13 1 1.8E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 40 0.13 2 2.7E-02
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 28 0.13 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 20 0.12 2 2.9E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 29 0.12 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 45 0.12 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 36 0.11 15 0.14
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 24 0.11 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 57 0.10 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 15 0.10 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 43 0.10 1 7.8E-03
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 9 19 0.10 3 5.4E-02
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 18 0.10 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 15 9.9E-02 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 9.9E-02 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 9.8E-02 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 13 9.8E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 18 9.8E-02 1 1.9E-02
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 13 9.6E-02 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 0 13 9.6E-02 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 21 9.5E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 47 9.2E-02 3 2.5E-02
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 13 9.2E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 101 26 9.2E-02 1 6.7E-03