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: C1263023
Disease: Macroorchidism
Macroorchidism 		16 0 1 6.2E-02 0 0
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		773 0 1 1.3E-03 0 0
CUI: C1720983
Disease: Channelopathies
Channelopathies 		94 0 1 1.1E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		46 0 1 2.2E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 1 5.2E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 5.8E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 1 9.5E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 5.6E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C1859698
Disease: Contractures of the large joints
Contractures of the large joints 		3 0 1 0.33 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.9E-03 0 0