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: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		4 0 3 0.38 0 0
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		5 0 3 0.33 0 0
CUI: C3805420
Disease: Popliteal pterygium
Popliteal pterygium 		6 0 3 0.30 0 0
CUI: C4021730
Disease: Junctional split
Junctional split 		6 0 3 0.30 0 0
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		6 0 3 0.30 0 0
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		2 0 2 0.29 0 0
CUI: C1849575
Disease: Absence of labia majora
Absence of labia majora 		2 0 2 0.29 0 0
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		2 0 2 0.29 0 0
CUI: C4021073
Disease: Morphological abnormality of the gastrointestinal tract
Morphological abnormality of the gastrointestinal tract 		2 0 2 0.29 0 0
CUI: C0266159
Disease: Pyloric Atresia
Pyloric Atresia 		7 0 3 0.27 0 0
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		7 0 3 0.27 0 0
CUI: C1867439
Disease: Pterygium, Antecubital
Pterygium, Antecubital 		3 0 2 0.25 0 0
CUI: C4025699
Disease: Abnormality of the stomach
Abnormality of the stomach 		3 0 2 0.25 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 2 0.22 0 0
CUI: C1274224
Disease: Inherited epidermolysis bullosa
Inherited epidermolysis bullosa 		5 0 2 0.20 0 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		12 0 3 0.19 0 0
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		6 0 2 0.18 0 0
CUI: C0743178
Disease: Intractable diarrhea
Intractable diarrhea 		13 0 3 0.18 0 0
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		7 0 2 0.17 0 0
CUI: C0155411
Disease: Exostosis of external ear canal
Exostosis of external ear canal 		1 0 1 0.14 0 0
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		9 0 2 0.14 0 0
CUI: C1411006
Disease: Finger contracture
Finger contracture 		1 0 1 0.14 0 0
CUI: C1844722
Disease: Unilateral breast hypoplasia
Unilateral breast hypoplasia 		1 0 1 0.14 0 0
CUI: C1848473
Disease: Whistling appearance
Whistling appearance 		1 0 1 0.14 0 0
CUI: C1849577
Disease: Neck pterygia
Neck pterygia 		1 0 1 0.14 0 0