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: C2931383
Disease: Chromosomal mosaicism due to mitotic instability
Chromosomal mosaicism due to mitotic instability 		3 0 1 0.33 0 0
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		5 0 1 0.20 0 0
CUI: C4551972
Disease: Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy syndrome 		5 0 1 0.20 0 0
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		7 0 1 0.14 0 0
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		10 20 1 1.0E-01 1 4.5E-02
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		13 0 1 7.7E-02 0 0
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis 		19 0 1 5.3E-02 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 1 3.3E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 1 3.1E-02 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 1 2.6E-02 0 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 1 2.4E-02 0 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		49 0 1 2.0E-02 0 0
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm 		57 0 1 1.8E-02 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 1 1.8E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.7E-02 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 1 1.6E-02 0 0
CUI: C4721411
Disease: Osteolysis
Osteolysis 		62 0 1 1.6E-02 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 1 1.5E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 1 1.1E-02 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 1 1.1E-02 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 9.3E-03 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 1 9.2E-03 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 1 9.2E-03 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 1 9.0E-03 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 1 8.8E-03 0 0