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: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 25 0.24 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 35 0.23 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 31 0.23 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 23 0.23 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 22 0.23 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 25 0.23 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 26 0.21 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 23 0.21 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 24 0.21 0 0
CUI: C1405984
Disease: Absent radius
Absent radius 		24 0 14 0.21 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 22 0.21 0 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		21 0 13 0.20 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 22 0.20 0 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		22 0 13 0.20 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 32 0.20 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 31 0.19 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 27 0.18 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 18 0.18 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 34 0.18 0 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 0 12 0.15 0 0
CUI: C4021737
Disease: Chromosomal breakage induced by crosslinking agents
Chromosomal breakage induced by crosslinking agents 		8 0 8 0.14 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 23 0.14 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 12 0.14 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 25 0.14 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 25 0.14 0 0