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: C1864897
Disease: Cognitive delay
Cognitive delay
965 0 965 0.88 0 0 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
1020 151 968 0.84 0 0 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
946 0 569 0.38 0 0 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
946 0 569 0.38 0 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
984 116 578 0.38 0 1 7.4E-03 2.2E-02
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
1031 0 587 0.38 0 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
1157 29 608 0.37 0 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
632 17 436 0.34 0 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2502 53 906 0.34 0 0 0
CUI: C0424688
Disease: Small head
Small head
569 57 382 0.30 0 0 0
CUI: C0036572
Disease: Seizures
Seizures
1173 165 509 0.29 0 1 5.4E-03 2.5E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
1176 147 500 0.28 0 4 2.4E-02 0
CUI: C0349588
Disease: Short stature
Short stature
749 36 405 0.28 0 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
542 0 293 0.22 0 0 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
538 22 291 0.22 0 0 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
528 0 289 0.22 0 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
403 20 260 0.21 0 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
459 34 269 0.21 0 1 1.9E-02 3.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
467 60 270 0.21 0 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
564 52 271 0.19 0 1 1.4E-02 1.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
499 33 239 0.18 0 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
367 9 211 0.17 0 0 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
506 827 230 0.17 0 1 1.2E-03 0.15
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
192 24 182 0.16 0 14 0.45 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
336 11 197 0.16 0 1 3.2E-02 3.0E-03