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: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 1 1.4E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 4 2.6E-02 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 1 1.2E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 8.0E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 1.3E-02 0 0
CUI: C0342826
Disease: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 		1 0 1 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 5 3.0E-02 0 0
CUI: C0000729
Disease: Abdominal Cramps
Abdominal Cramps 		1 0 1 1.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 6 1.6E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 1.3E-02 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 1.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 7.4E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 1.1E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 4 4.1E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 6.9E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 2 2.5E-02 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		7 0 1 1.3E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 0 1 1.4E-02 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		5 0 1 1.3E-02 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen 		1 0 1 1.4E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 9.4E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 7.8E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 7.1E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 2 1.8E-02 0 0