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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
194 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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
129 0 1 1.5E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor
124 0 1 1.5E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot
116 0 1 1.5E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
112 0 1 1.5E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand
108 0 1 1.5E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
104 0 1 1.6E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 1 1.6E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 1 1.6E-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: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 1 1.6E-03 0 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
87 0 1 1.6E-03 0 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
87 0 1 1.6E-03 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
86 0 1 1.6E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
86 0 1 1.6E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea
82 0 1 1.6E-03 0 0
Autosomal recessive retinitis pigmentosa
82 0 1 1.6E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
77 0 1 1.6E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 1 1.6E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
76 0 1 1.6E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
75 0 1 1.6E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
75 0 1 1.6E-03 0 0