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: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 2.0E-03 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 0 1 2.0E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 2.0E-03 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 1 2.0E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement 		75 0 1 2.0E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 2.0E-03 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 1 2.0E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 2.0E-03 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		72 0 1 2.0E-03 0 0
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		72 0 1 2.0E-03 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 1 2.0E-03 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 2.0E-03 0 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		67 0 1 2.1E-03 0 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		67 0 1 2.1E-03 0 0
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		65 0 1 2.1E-03 0 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 1 2.1E-03 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 1 2.1E-03 0 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		61 0 1 2.1E-03 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 0 1 2.1E-03 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 1 2.1E-03 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 2.1E-03 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 0 1 2.1E-03 0 0
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		58 0 1 2.1E-03 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 2.1E-03 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 1 2.1E-03 0 0