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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 2 1.1E-03 2 3.6E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 1 9.0E-04 1 2.5E-03
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0 386 0 0 1 2.6E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 2 1.6E-03 3 8.8E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0 231 0 0 1 4.2E-03
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0 231 0 0 1 4.2E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 2 3.6E-03 1 5.1E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 2 2.1E-03 1 5.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 2 9.2E-04 2 1.2E-02
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		94 135 1 1.1E-02 1 7.1E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 1 4.0E-03 1 1.0E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 2 3.4E-03 1 1.4E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 2 4.4E-03 1 1.4E-02
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		2 52 1 0.33 4 7.4E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 23 1 1.4E-02 1 3.6E-02
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		9 20 1 1.0E-01 1 4.0E-02
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		250 7 1 4.0E-03 1 8.3E-02
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		1 4 1 0.50 2 0.25
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 5.6E-03 0 0
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		86 0 1 1.1E-02 0 0
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		1114 0 1 9.0E-04 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 5.0E-03 0 0
CUI: C0004096
Disease: Asthma
Asthma 		2096 0 1 4.8E-04 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		939 0 1 1.1E-03 0 0