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: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.29 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 5 0.25 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 0.23 0 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 5 0.19 0 0
CUI: C4023440
Disease: Cleft earlobe
Cleft earlobe 		3 0 3 0.19 0 0
CUI: C4024888
Disease: Asymmetric, linear skin defects
Asymmetric, linear skin defects 		3 0 3 0.19 0 0
CUI: C0266210
Disease: Congenital anomaly of rectum
Congenital anomaly of rectum 		4 0 3 0.18 0 0
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		19 0 5 0.17 0 0
CUI: C0235812
Disease: Vitritis
Vitritis 		5 0 3 0.17 0 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine 		19 0 5 0.17 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 5 0.16 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 5 0.16 0 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		8 0 3 0.14 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 5 0.14 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 5 0.14 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 0 5 0.13 0 0
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		10 0 3 0.13 0 0
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		10 0 3 0.13 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 3 0.12 0 0
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		2 0 2 0.12 0 0
CUI: C0221182
Disease: Chordee
Chordee 		11 0 3 0.12 0 0
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome 		2 0 2 0.12 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 5 0.12 0 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		12 0 3 0.12 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 5 0.12 0 0