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: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 1 9.8E-05 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 1 1.6E-04 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 1 1.7E-04 0 0
CUI: C0025202
Disease: melanoma
melanoma 		3087 0 1 3.2E-04 0 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		2438 0 1 4.1E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 1 5.8E-04 1 3.3E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 1 6.1E-04 0 0
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		1370 0 1 7.3E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 1 8.9E-04 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-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: C0027765
Disease: nervous system disorder
nervous system disorder 		977 0 1 1.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		945 0 1 1.1E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 1 1.2E-03 1 7.2E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 0 1 1.2E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0497327
Disease: Dementia
Dementia 		816 0 1 1.2E-03 0 0