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: C0238521
Disease: VENTRICULAR SEPTAL DEFECT, LARGE
VENTRICULAR SEPTAL DEFECT, LARGE 		0 1 0 0 1 3.2E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 2.3E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.5E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.5E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 2.7E-03 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 1 2.8E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 2.8E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 2.8E-03 0 0
CUI: C0266999
Disease: Vesicular Stomatitis
Vesicular Stomatitis 		112 0 1 2.9E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.9E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 2.9E-03 0 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		95 0 1 3.0E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 3.0E-03 0 0
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		93 0 1 3.0E-03 0 0
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		93 0 1 3.0E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 0 1 3.0E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 3.1E-03 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 0 1 3.1E-03 0 0
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		82 0 1 3.1E-03 0 0
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		82 0 1 3.1E-03 0 0
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		82 0 1 3.1E-03 0 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 0 1 3.1E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 3.2E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 3.2E-03 0 0
CUI: C0012569
Disease: Diplopia
Diplopia 		75 0 1 3.2E-03 0 0