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: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 37 0.26 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 38 0.26 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 31 0.22 0 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 30 0.20 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 34 0.20 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 30 0.19 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 35 0.18 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 22 0.18 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 22 0.18 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 22 0.18 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 27 0.18 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 22 0.18 0 0
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 22 0.18 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 23 0.17 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 30 0.17 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 23 0.17 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 38 0.17 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 22 0.17 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 22 0.17 0 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 22 0.17 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		30 0 22 0.17 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 33 0.17 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 22 0.17 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 32 0.16 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 27 0.16 0 0