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: C1836038
Disease: Poor head control
Poor head control 		162 0 1 1.5E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.6E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 1.6E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 0 1 1.6E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 1.6E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 1.7E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.7E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.7E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.7E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 1.7E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 1.7E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 1.7E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 1.8E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 1.8E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 1.8E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.8E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.8E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.8E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.8E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.8E-03 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 1 1.8E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.8E-03 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 1 1.8E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.8E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 1.8E-03 0 0