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: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		10 0 1 1.0E-01 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 6.2E-02 0 0
CUI: C0149530
Disease: Congenital heart block
Congenital heart block 		20 0 1 5.0E-02 0 0
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		20 0 1 5.0E-02 0 0
CUI: C0409979
Disease: Neonatal Systemic lupus erythematosus
Neonatal Systemic lupus erythematosus 		22 0 1 4.5E-02 0 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		27 0 1 3.7E-02 0 0
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		32 0 1 3.1E-02 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 1 3.1E-02 0 0
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		40 0 1 2.5E-02 0 0
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		43 0 1 2.3E-02 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		46 0 1 2.2E-02 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 1 1.9E-02 0 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		64 0 1 1.6E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.5E-02 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 1 1.4E-02 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 23 1 1.4E-02 1 3.6E-02
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 1 1.2E-02 0 0
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		87 0 1 1.1E-02 0 0
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		92 0 1 1.1E-02 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 0 1 1.1E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 9.6E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.9E-03 0 0
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		117 0 1 8.5E-03 0 0
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		123 0 1 8.1E-03 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 1 6.7E-03 0 0