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 2 2.5E-02 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 1.4E-02 0 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		1 0 1 1.6E-02 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		1 0 1 1.6E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 1.6E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 1.5E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 4 2.8E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 1.7E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 1.3E-02 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 1.4E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.2E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 1.1E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.1E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 9.6E-03 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		2 0 1 1.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 5 1.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 23 2.4E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 7.3E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 1.3E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 1 1.4E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 1.4E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 12 0.11 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 6 4.7E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 9.7E-03 0 0