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: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 26 0.21 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 22 0.20 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 24 0.20 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 23 0.20 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 24 0.19 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 23 0.19 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 22 0.19 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 22 0.18 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 27 0.16 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 23 0.16 0 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		253 0 45 0.16 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 22 0.16 0 0
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		41 0 15 0.16 0 0
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		182 0 34 0.16 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 29 0.15 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 22 0.15 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 22 0.14 0 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		21 0 11 0.14 0 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		22 0 11 0.14 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 25 0.14 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 24 0.14 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 26 0.13 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 23 0.13 0 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		151 0 25 0.13 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 23 0.12 0 0