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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 8 90 0.63 3 0.30
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 38 0.22 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 41 0.20 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 31 0.19 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 32 0.18 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 29 0.18 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 33 0.17 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 42 0.17 0 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		44 0 26 0.17 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 37 0.16 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 23 0.16 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 22 0.16 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 22 0.16 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 22 0.16 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		30 0 23 0.16 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 38 0.16 1 7.7E-02
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 22 0.16 0 0
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 22 0.16 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 48 0.16 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 23 0.16 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 25 0.15 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 41 0.15 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 22 0.15 0 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 22 0.15 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 22 0.15 0 0