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: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 16 8.1E-02 4 9.8E-02
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 6 17 8.0E-02 2 6.9E-02
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 12 17 8.0E-02 2 5.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 90 8.0E-02 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 22 7.9E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 16 7.9E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 55 7.9E-02 2 2.5E-02
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 14 22 7.8E-02 3 8.3E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 18 7.8E-02 3 4.9E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 42 7.7E-02 1 1.0E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 27 7.6E-02 1 1.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 50 7.5E-02 7 3.3E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 69 7.5E-02 4 3.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 22 7.5E-02 8 3.0E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 26 7.5E-02 1 2.9E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 37 7.4E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 14 7.3E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 52 7.3E-02 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 24 7.3E-02 1 2.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 49 7.3E-02 2 2.7E-02
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 20 7.2E-02 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 32 7.2E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 38 7.2E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 20 7.2E-02 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 25 7.2E-02 0 0