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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 195 9.8E-02 13 1.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 57 0.11 13 2.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		2078 990 163 7.2E-02 8 6.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 236 0.10 8 1.0E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 79 0.11 7 1.9E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 168 9.2E-02 6 1.0E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 105 7.9E-02 6 1.2E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 139 0.13 5 1.6E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 128 0.19 5 1.5E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 23 5.0E-02 5 1.8E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 69 52 8.9E-02 5 1.6E-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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 95 98 0.15 5 1.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 81 9.6E-02 5 1.2E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 28 6.4E-02 5 1.5E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 38 7.9E-02 5 1.0E-02
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		1 5 1 2.8E-03 5 2.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		3397 1843 175 4.9E-02 4 1.9E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 108 0.15 4 1.3E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 97 0.17 4 1.4E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		2509 386 122 4.4E-02 4 6.4E-03