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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 6.7E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 0.14
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0 35 0 0 1 2.4E-02
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0 4 0 0 1 1.0E-01
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		0 5 0 0 1 9.1E-02
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0 21 0 0 1 3.7E-02
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		0 13 0 0 1 5.3E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 0.14
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 0.14
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		0 2 0 0 1 0.12
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0 9 0 0 1 6.7E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 0.11
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 1 1.4E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		565 0 1 1.7E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.7E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 2 1.7E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.7E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.9E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.9E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 2 1.9E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.0E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.0E-03 0 0