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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 156 0.13 101 0.14
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 110 0.16 75 9.5E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 45 7.9E-02 26 4.6E-02
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		1 5 1 2.8E-03 5 2.0E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 57 0.11 13 2.0E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 79 0.11 7 1.9E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 23 5.0E-02 5 1.8E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 115 0.14 5 1.7E-02
CUI: C0040822
Disease: Tremor
Tremor 		528 52 126 0.16 5 1.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 195 9.8E-02 13 1.7E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 139 0.13 5 1.6E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 69 52 8.9E-02 5 1.6E-02
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		83 20 11 2.5E-02 4 1.5E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 14 3.1E-02 4 1.5E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 28 6.4E-02 5 1.5E-02
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 95 98 0.15 5 1.5E-02
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		46 27 12 3.0E-02 4 1.5E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 128 0.19 5 1.5E-02
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		51 32 18 4.6E-02 4 1.5E-02
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 41 20 4.3E-02 4 1.4E-02
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		255 41 35 6.0E-02 4 1.4E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 97 0.17 4 1.4E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 26 5.3E-02 4 1.4E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 108 0.15 4 1.3E-02
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		179 65 26 5.0E-02 4 1.3E-02