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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		3134 0 1 3.2E-04 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 1 5.2E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 1 5.5E-04 1 1.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 2 9.3E-04 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		724 0 1 1.4E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 3 1.4E-03 0 0
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 1 1.7E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 0 1 1.7E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.7E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.7E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.3E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.6E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 3 2.8E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.9E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 3.1E-03 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 1 3.1E-03 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 1 3.1E-03 1 1.9E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 3.2E-03 0 0
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		272 0 1 3.6E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.6E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 3.7E-03 0 0