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: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm 		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: C0003076
Disease: Aniridia
Aniridia 		83 0 1 1.2E-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
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 8.6E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 8.5E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 8.3E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 7.9E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 7.3E-03 0 0
CUI: C0008487
Disease: Chordoma
Chordoma 		140 0 1 7.1E-03 0 0
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		143 0 1 7.0E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 6.7E-03 0 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		181 0 1 5.5E-03 0 0
CUI: C0003962
Disease: Ascites
Ascites 		198 0 1 5.1E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 4.8E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 4.7E-03 0 0