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: C0036572
Disease: Seizures
Seizures
1173 165 891 0.61 0 15 5.1E-02 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
1020 151 485 0.28 0 1 3.4E-03 0.19
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1101 21 500 0.28 0 4 2.4E-02 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
965 0 470 0.28 0 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
467 60 344 0.26 0 3 1.5E-02 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2502 53 745 0.25 0 5 2.6E-02 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
1157 29 465 0.25 0 1 5.7E-03 3.4E-02
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
1031 0 433 0.24 0 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
984 116 416 0.24 0 5 1.9E-02 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
946 0 408 0.24 0 0 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
946 0 408 0.24 0 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
632 17 322 0.22 0 0 0
CUI: C0424688
Disease: Small head
Small head
569 57 270 0.18 0 1 4.9E-03 7.3E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
564 52 259 0.17 0 3 1.5E-02 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
542 0 239 0.16 0 0 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
528 0 235 0.16 0 0 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
538 22 236 0.16 0 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
459 34 224 0.16 0 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
403 20 210 0.15 0 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
499 33 218 0.15 0 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
352 9 190 0.14 0 0 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
506 827 205 0.14 0 3 3.1E-03 6.7E-02
CUI: C0349588
Disease: Short stature
Short stature
749 36 234 0.14 0 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
670 121 224 0.14 0 3 1.1E-02 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
337 21 174 0.13 0 2 1.2E-02 2.0E-03