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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 2 3.5E-03 6 0.11
CUI: C4310634
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 		1 6 1 7.7E-02 6 0.75
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 3 5.1E-03 2 3.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 1 2.1E-03 2 4.0E-02
CUI: C0854279
Disease: Basal ganglion degeneration
Basal ganglion degeneration 		3 2 1 6.7E-02 2 0.25
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		182 46 1 5.2E-03 2 3.8E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		241 69 2 7.9E-03 1 1.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 9 4.9E-03 1 1.8E-03
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 2 1.1E-02 1 4.2E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 1 7.7E-03 1 1.5E-02
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 3 2 3.5E-02 1 1.0E-01
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 4 3.6E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.8E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.5E-03 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 1 2.2E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 3 1.3E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 5.3E-03 0 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		3397 0 3 8.8E-04 0 0
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		174 0 1 5.4E-03 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 0 1 1.2E-03 0 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		154 0 1 6.0E-03 0 0
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		434 0 1 2.2E-03 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 1 6.6E-03 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 0 3 2.8E-03 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 1 1.0E-02 0 0