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 0 2 1.7E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.9E-02 0 0
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		1 0 1 2.9E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.4E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 9.0E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 5 0.11 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.2E-03 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 1 1 2.9E-02 1 0.25
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		16 0 1 2.0E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 1 6 0.16 1 0.25
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 3 3.3E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 2 2.0E-02 1 7.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 3 4.8E-02 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 5 0.13 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 1 2.1E-02 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 5 0.10 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 2 2.8E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.2E-02 0 0
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		8 0 1 2.4E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.3E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 1.9E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 6 0.13 0 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave 		20 0 1 1.9E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 2 2.3E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 6 0.11 0 0