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: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 7 6.3E-02 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 5 6.2E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 10 6.2E-02 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 12 6.2E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 12 6.1E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 7 6.1E-02 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 12 5.9E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 11 5.9E-02 1 1.9E-02
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 12 5.9E-02 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 4 5.8E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 7 5.7E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 18 5.7E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 6 5.7E-02 0 0
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		8 0 4 5.6E-02 0 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		27 0 5 5.6E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 28 5.5E-02 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 5 5.4E-02 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 5 5.4E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 28 5.4E-02 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 7 5.3E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 24 5.3E-02 0 0
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 0 4 5.3E-02 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 0 8 5.3E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 26 5.3E-02 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 5 5.2E-02 0 0