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: C4749271
Disease: Aleukemic mast cell leukemia
Aleukemic mast cell leukemia 		0 2 0 0 2 4.7E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 1.7E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 1.9E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 1.9E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 2.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.0E-03 0 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		129 0 1 2.0E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.1E-03 0 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		105 0 1 2.1E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.2E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 2.2E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 2.2E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 2.2E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.2E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.2E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 2.2E-03 0 0
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		84 0 1 2.2E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 2.3E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 2.3E-03 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 1 2.3E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement 		75 0 1 2.3E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 2.3E-03 0 0
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		74 0 1 2.3E-03 0 0
CUI: C0032617
Disease: Polyuria
Polyuria 		73 0 1 2.3E-03 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 1 2.3E-03 0 0