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: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 82 0.51 17 0.34
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 109 5.0E-02 6 1.0E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 85 6.6E-02 5 1.4E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 58 0.21 4 2.7E-02
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		5 116 1 6.5E-03 4 2.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 70 6.7E-02 3 5.0E-03
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 10 18 8.5E-02 3 8.6E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 25 0.14 3 2.0E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 2897 73 2.5E-02 2 6.8E-04
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 8 12 5.1E-02 2 5.9E-02
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		1 104 1 6.7E-03 2 1.5E-02
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		1 91 1 6.7E-03 2 1.7E-02
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		1 65 1 6.7E-03 2 2.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 93 4.2E-02 2 1.1E-02
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		1 9 1 6.7E-03 2 5.7E-02
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		0 4 0 0 2 6.7E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 168 28 1.2E-02 1 5.1E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		3397 1843 56 1.6E-02 1 5.3E-04
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		694 93 20 2.4E-02 1 8.3E-03
CUI: C0002871
Disease: Anemia
Anemia 		847 94 13 1.3E-02 1 8.3E-03
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		434 138 10 1.7E-02 1 6.1E-03
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		26 4 1 5.7E-03 1 3.2E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		2723 2387 28 9.8E-03 1 4.1E-04
CUI: C0004093
Disease: Asthenia
Asthenia 		16 3 1 6.1E-03 1 3.3E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		939 584 19 1.8E-02 1 1.6E-03