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: C0426421
Disease: Wide nose
Wide nose
87 0 1 2.0E-03 0 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
87 0 1 2.0E-03 0 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
87 0 1 2.0E-03 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
86 0 1 2.0E-03 0 0
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
82 0 1 2.1E-03 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
80 0 1 2.1E-03 0 0
Progressive sensorineural hearing impairment
78 0 1 2.1E-03 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
77 0 1 2.1E-03 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
77 0 1 2.1E-03 0 0
CUI: C0012569
Disease: Diplopia
Diplopia
75 0 1 2.1E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
75 0 1 2.1E-03 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
74 0 1 2.1E-03 0 0
CUI: C1301937
Disease: Talipes
Talipes
74 0 1 2.1E-03 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
73 0 1 2.1E-03 0 0
CUI: C0679427
Disease: myeloblastosis
myeloblastosis
72 0 1 2.1E-03 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
70 0 1 2.1E-03 0 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
69 0 1 2.1E-03 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
69 0 1 2.1E-03 0 0
CUI: C0423867
Disease: Fine hair
Fine hair
69 0 1 2.1E-03 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
69 0 1 2.1E-03 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
69 0 1 2.1E-03 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
68 0 1 2.1E-03 0 0
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
66 0 1 2.1E-03 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
65 0 1 2.1E-03 0 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
65 0 1 2.1E-03 0 0