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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 122 85 0.21 20 0.12
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 23 0.13 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 22 0.12 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 22 0.12 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 22 0.12 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 22 0.12 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 23 0.12 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 31 0.12 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 27 0.12 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 25 0.12 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 22 0.12 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 22 0.12 0 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 22 0.12 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		30 0 22 0.12 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 24 0.12 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 22 0.12 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 22 0.12 0 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		44 0 23 0.12 0 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 23 0.11 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 29 0.11 0 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		38 0 22 0.11 0 0
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		89 27 27 0.11 4 4.8E-02
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 22 0.11 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 22 0.11 0 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		50 0 23 0.11 0 0