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: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 26 0.11 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 23 0.11 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 23 0.11 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 30 0.11 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 25 0.11 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 23 0.11 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 24 0.11 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 23 0.11 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 30 0.10 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 33 0.10 0 0
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		163 0 32 0.10 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 23 0.10 0 0
CUI: C0002902
Disease: Anencephaly
Anencephaly 		59 10 22 0.10 6 9.2E-02
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 23 0.10 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 29 0.10 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 23 1.0E-01 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 23 9.9E-02 0 0
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		70 8 22 9.7E-02 3 4.5E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 83 40 9.7E-02 3 2.1E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 35 9.5E-02 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 26 9.4E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 23 9.2E-02 0 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		181 0 30 9.1E-02 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 27 9.0E-02 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 20 9.0E-02 0 0