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: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 1 6.2E-02 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 1 5.3E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 1 3.7E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 9.6E-03 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: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.2E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 5.0E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 0 1 1.6E-03 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 1 5.0E-02 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 1 6.7E-02 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 1.1E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 1 7.2E-03 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 1 5.3E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 8.6E-03 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 1 2.3E-02 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 1 4.2E-02 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 1.0E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 1 2.5E-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: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		68 0 1 1.5E-02 0 0