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 9.2E-03
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 9.9E-03
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0 123 0 0 1 4.5E-03
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 9.9E-03
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 9.9E-03
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		0 2 0 0 1 9.8E-03
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0 9 0 0 1 9.2E-03
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 9.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.5E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.7E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 1.8E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 1.9E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 1.9E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 1.9E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.0E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.0E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 1 2.2E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 1 2.6E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 2.6E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 2.7E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 2.7E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.8E-03 0 0
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		245 0 1 2.9E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 2 2.9E-03 0 0