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: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.4E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 1.4E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 1.4E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.4E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 1.5E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 1.5E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 1.5E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 1.5E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 1.5E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 1.5E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.5E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.5E-03 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 1 1.5E-03 0 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		92 0 1 1.5E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.5E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.5E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 1.6E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 1.6E-03 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 0 1 1.6E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 1.6E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.6E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.6E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.6E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.6E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 1.6E-03 0 0