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: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 1 3.7E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 1 2.2E-02 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 1 0.14 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 1 0.20 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 1 1.6E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 5.0E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 0 1 1.6E-03 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 1 6.7E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 1 1.2E-02 2 4.2E-02
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 8.6E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.7E-03 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 1 2.5E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 2.0E-03 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 1 2.2E-02 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 1 5.9E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 0 1 1.1E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		40 0 1 2.5E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 1 7.1E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 4.4E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.0E-02 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 3.7E-03 0 0