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 0.18 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 23 0.18 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 23 0.18 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 24 0.17 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 33 0.17 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 18 0.17 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 44 0.17 1 3.2E-02
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 23 0.17 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 31 0.16 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 24 0.16 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 23 0.16 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 22 0.16 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 23 0.16 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 23 0.15 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 32 0.15 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 28 0.15 1 2.8E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 30 0.14 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 28 0.14 1 4.2E-02
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 26 0.14 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 18 0.13 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 43 0.13 4 7.8E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 35 0.12 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 5 26 0.12 1 5.0E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 35 0.12 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 28 0.12 0 0