Source: CURATED ×
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: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0 17 0 0 1 9.1E-03
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0 1 0 0 1 1.1E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0 35 0 0 1 7.8E-03
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		0 3 0 0 1 1.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		0 64 0 0 1 6.4E-03
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		0 1 0 0 1 1.1E-02
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		0 5 0 0 1 1.0E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0 30 0 0 2 1.6E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0 32 0 0 1 8.0E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0 125 0 0 1 4.6E-03
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0 5 0 0 1 1.0E-02
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0 4 0 0 1 1.0E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0 12 0 0 2 1.9E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0 19 0 0 1 8.9E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0 192 0 0 1 3.5E-03
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0 10 0 0 1 9.7E-03
CUI: C0497406
Disease: Overweight
Overweight 		0 3 0 0 1 1.0E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0 42 0 0 1 7.4E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0 37 0 0 2 1.6E-02
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0 3 0 0 1 1.0E-02
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		0 2 0 0 2 2.1E-02
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		0 2 0 0 1 1.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0 30 0 0 1 8.1E-03
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0 13 0 0 2 1.9E-02
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		0 7 0 0 1 1.0E-02