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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 1 9.5E-03 1 5.6E-02
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 2.9E-02 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 1 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 14 4.5E-02 0 0
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		4 0 3 0.14 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.2E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 1.8E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		16 0 1 2.8E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 1.9E-02 1 2.6E-02
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 14 0.38 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 3 5.3E-02 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		4 0 2 8.7E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 6 0.20 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 2.1E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 6 4.6E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 14 0.23 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 4 1 8.6E-03 1 0.17
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 6 0.22 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 14 6.3E-02 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 1 4.3E-02 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 1 3.3E-02 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		24 0 1 2.3E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 4.5E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.0E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 16 7.5E-02 0 0