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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 1.8E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 4 3.4E-02 0 0
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		1 0 1 2.6E-02 0 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 1 2.6E-02 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 2.6E-02 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 2.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 2.9E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 2.2E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 1.8E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.5E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 2.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 4 4.2E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 2.0E-02 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification 		3 0 1 2.5E-02 0 0
CUI: C1968592
Disease: Abnormal calcification of the carpal bones
Abnormal calcification of the carpal bones 		2 0 1 2.6E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 1 2.6E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 2 2.8E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 1 2.2E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.3E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 2 3.8E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 3 6.5E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 1 2.4E-02 0 0
CUI: C4021246
Disease: Abnormal epiphyseal ossification
Abnormal epiphyseal ossification 		1 0 1 2.6E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 1 1.5E-02 0 0