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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 53 8.6E-02 4 5.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 59 8.5E-02 3 1.4E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 45 8.4E-02 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 39 8.2E-02 1 1.6E-02
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 26 32 8.2E-02 2 4.4E-02
CUI: C0030554
Disease: Paresthesia
Paresthesia 		121 0 24 8.2E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 49 8.2E-02 2 1.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 59 8.1E-02 2 2.8E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 47 8.1E-02 3 6.0E-02
CUI: C0001816
Disease: Agnosia
Agnosia 		17 0 16 8.1E-02 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 38 7.9E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 56 7.9E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 39 7.9E-02 1 1.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 147 7.8E-02 8 1.4E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 44 7.8E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 46 7.8E-02 2 3.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 91 7.8E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 49 7.7E-02 3 4.2E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 27 7.6E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 23 7.6E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 75 7.6E-02 1 1.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 44 7.6E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 41 7.5E-02 2 2.9E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 164 7.5E-02 4 7.0E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 47 7.5E-02 0 0