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: C0700199
Disease: Multiple nevi
Multiple nevi 		2 0 1 0.25 0 0
CUI: C1295643
Disease: Increased estradiol level
Increased estradiol level 		2 0 1 0.25 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 2 0.25 0 0
CUI: C1868554
Disease: Irregular sclerotic endplates
Irregular sclerotic endplates 		2 0 1 0.25 0 0
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		2 0 1 0.25 0 0
CUI: C3472624
Disease: B lymphoblastic leukemia lymphoma, no ICD-O subtype
B lymphoblastic leukemia lymphoma, no ICD-O subtype 		2 0 1 0.25 0 0
CUI: C4022397
Disease: Congenital malformation of the left heart
Congenital malformation of the left heart 		2 0 1 0.25 0 0
CUI: C4023910
Disease: Aplasia/Hypoplasia of the diaphragm
Aplasia/Hypoplasia of the diaphragm 		2 0 1 0.25 0 0
CUI: C4476792
Disease: High myoinositol in brain by MRS
High myoinositol in brain by MRS 		2 0 1 0.25 0 0
CUI: C0235813
Disease: Neonatal leukaemia
Neonatal leukaemia 		3 0 1 0.20 0 0
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		3 0 1 0.20 0 0
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		3 0 1 0.20 0 0
CUI: C0455792
Disease: Small scrotum
Small scrotum 		3 1 1 0.20 1 0.33
CUI: C1269700
Disease: Caliectasis
Caliectasis 		3 0 1 0.20 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 1 0.20 0 0
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		3 0 1 0.20 0 0
CUI: C3161106
Disease: Pulmonary interstitial glycogenosis
Pulmonary interstitial glycogenosis 		3 0 1 0.20 0 0
CUI: C3808410
Disease: Gastrointestinal malrotation
Gastrointestinal malrotation 		3 0 1 0.20 0 0
CUI: C4020718
Disease: Wide nasal ridge
Wide nasal ridge 		3 0 1 0.20 0 0
CUI: C4021967
Disease: Pancreatic aplasia
Pancreatic aplasia 		3 0 1 0.20 0 0
CUI: C4022551
Disease: Wide penis
Wide penis 		3 0 1 0.20 0 0
CUI: C4022680
Disease: Lagopthalmos
Lagopthalmos 		3 0 1 0.20 0 0
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve 		3 0 1 0.20 0 0
CUI: C0265857
Disease: Uhl anomaly
Uhl anomaly 		4 0 1 0.17 0 0
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		4 0 1 0.17 0 0