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: C0014544
Disease: Epilepsy
Epilepsy
1176 147 344 0.26 0 3 1.5E-02 0
CUI: C0036572
Disease: Seizures
Seizures
1173 165 330 0.25 0 5 2.3E-02 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
1020 151 266 0.22 0 2 9.6E-03 2.0E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
965 0 253 0.21 0 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1101 21 270 0.21 0 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
632 17 185 0.20 0 1 1.3E-02 7.0E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
337 21 115 0.17 0 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
1031 0 211 0.16 0 0 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
946 0 199 0.16 0 0 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
946 0 199 0.16 0 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
352 9 115 0.16 0 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
984 116 203 0.16 0 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2502 53 415 0.16 0 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
233 19 96 0.16 0 1 1.3E-02 1.0E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
564 52 139 0.16 0 1 9.0E-03 2.7E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
1157 29 215 0.15 0 0 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
506 827 125 0.15 0 1 1.1E-03 0.33
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
300 4 98 0.15 0 0 0
CUI: C0424688
Disease: Small head
Small head
569 57 131 0.14 0 0 0
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
166 0 80 0.14 0 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
459 34 111 0.14 0 1 1.1E-02 1.5E-02
CUI: C4020860
Disease: Supratentorial atrophy
Supratentorial atrophy
142 1 73 0.14 0 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
186 12 76 0.13 0 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
153 11 72 0.13 0 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
203 6 76 0.13 0 0 0