Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Delayed speech and language development
560 0 84 0.14 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
91 0 26 0.13 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
316 0 51 0.13 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
276 0 46 0.13 0 0
CUI: C0013421
Disease: Dystonia
Dystonia
453 0 64 0.12 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
393 0 56 0.12 0 0
CUI: C1854301
Disease: Motor delay
Motor delay
384 0 53 0.11 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 62 0.11 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
227 0 36 0.11 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
454 0 58 0.11 0 0
CUI: C1854882
Disease: Absent speech
Absent speech
232 0 36 0.11 0 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
63 0 19 0.11 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 0 29 0.10 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
96 0 21 1.0E-01 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 0 64 9.8E-02 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
160 0 26 9.7E-02 0 0
CUI: C4021799
Disease: Restrictive behavior
Restrictive behavior
13 0 13 9.6E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 0 93 9.3E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
171 0 26 9.3E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 98 8.9E-02 0 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
111 0 20 8.8E-02 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
271 0 33 8.8E-02 0 0
CUI: C0026884
Disease: Mutism
Mutism
47 0 14 8.3E-02 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
142 0 21 8.2E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
183 0 24 8.2E-02 0 0