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: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 3.2E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 3.2E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 3.2E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 3.2E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 3.3E-03 0 0
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		100 0 1 3.4E-03 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 1 3.4E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 3.4E-03 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 3.4E-03 0 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		95 0 1 3.4E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 3.4E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 3.4E-03 0 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		94 0 1 3.4E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 3.4E-03 0 0
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		91 0 1 3.5E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 3.5E-03 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 3.5E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 3.5E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 3.5E-03 0 0
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
Nonmedullary Thyroid Carcinoma 		89 0 1 3.5E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 3.5E-03 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 1 3.5E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 3.5E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 3.6E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 3.6E-03 0 0