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: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 3 0.21 0 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 3 0.19 0 0
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR 		2 0 2 0.15 0 0
CUI: C0334067
Disease: Non-Ossifying Fibroma
Non-Ossifying Fibroma 		2 0 2 0.15 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 2 0.15 0 0
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		3 0 2 0.14 0 0
CUI: C3898473
Disease: Malignant biliary obstruction
Malignant biliary obstruction 		3 0 2 0.14 0 0
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		3 0 2 0.14 0 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		4 0 2 0.13 0 0
CUI: C0265857
Disease: Uhl anomaly
Uhl anomaly 		4 0 2 0.13 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		4 0 2 0.13 0 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		4 0 2 0.13 0 0
CUI: C4082954
Disease: Hypoplasia of right ventricle
Hypoplasia of right ventricle 		4 0 2 0.13 0 0
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		5 0 2 0.12 0 0
CUI: C0266614
Disease: Bat ear
Bat ear 		5 0 2 0.12 0 0
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		5 0 2 0.12 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		5 0 2 0.12 0 0
CUI: C1866260
Disease: Peroxisome Biogenesis Disorder, Complementation Group H
Peroxisome Biogenesis Disorder, Complementation Group H 		6 0 2 0.12 0 0
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		6 0 2 0.12 0 0
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect 		7 0 2 0.11 0 0
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		7 0 2 0.11 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		7 0 2 0.11 0 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 0 2 0.11 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 4 0.11 0 0
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		8 0 2 0.11 0 0