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: C0036572
Disease: Seizures
Seizures 		2152 553 7 3.3E-03 2 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 6 3.3E-03 2 3.6E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 1 2.9E-03 2 2.5E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 1 3.0E-03 2 3.0E-02
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		6 66 1 7.7E-02 2 3.0E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 2 5.8E-03 2 3.6E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 1 6.1E-03 2 3.9E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 4 8.7E-03 2 4.5E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 3 1.5E-02 2 6.1E-02
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 9 1 1.7E-02 2 0.22
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		24 5 1 3.2E-02 2 0.40
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		4 2 1 9.1E-02 1 0.33
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.2E-03 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 2 1.8E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 2 7.8E-03 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 1.9E-02 0 0
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		94 0 1 9.9E-03 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 1 2.3E-03 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 2 1.7E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 5.5E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 2 9.3E-03 0 0
CUI: C0002170
Disease: Alopecia
Alopecia 		491 0 2 4.0E-03 0 0
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		86 0 1 1.1E-02 0 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		3397 0 5 1.5E-03 0 0
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		37 0 1 2.3E-02 0 0