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: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		76 14 74 0.45 14 0.61
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		35 6 31 0.19 4 0.16
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 30 0.16 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 29 0.15 0 0
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		47 5 26 0.14 2 7.7E-02
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		112 0 33 0.14 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 22 0.13 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 22 0.13 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 22 0.13 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 23 0.13 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 22 0.13 0 0
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 22 0.13 0 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 24 0.13 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 22 0.13 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 22 0.13 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 50 0.13 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 25 0.13 0 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 22 0.13 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		30 0 22 0.13 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 31 0.13 0 0
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		162 7 37 0.13 1 3.4E-02
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 23 0.13 0 0
CUI: C1658953
Disease: tumor vasculature
tumor vasculature 		200 0 41 0.13 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 22 0.13 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 22 0.13 0 0