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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 1 1.4E-04 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 1 1.5E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 1 6.1E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		1256 0 1 7.9E-04 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 0 1 8.2E-04 0 0
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		1183 0 1 8.4E-04 0 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		1180 0 1 8.5E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 1 8.9E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 2 9.2E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 2 9.3E-04 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 1 9.6E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.9E-04 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.3E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.4E-03 0 0
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		610 0 1 1.6E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.6E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.7E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.7E-03 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 1 1.7E-03 0 0