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: C0311394
Disease: Difficulty walking
Difficulty walking
224 0 1 1.4E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
168 0 1 1.6E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 1 1.6E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
158 0 1 1.6E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
131 0 1 1.6E-03 0 0
Sensorineural hearing loss, bilateral
117 0 1 1.7E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
115 0 1 1.7E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
112 0 1 1.7E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
106 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: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
104 0 1 1.7E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck
103 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: C0566620
Disease: Nasal voice
Nasal voice
93 0 1 1.8E-03 0 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness
92 0 1 1.8E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 1 1.8E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
91 0 1 1.8E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
89 0 1 1.8E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
89 0 1 1.8E-03 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia
85 0 1 1.8E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
85 0 1 1.8E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea
82 0 1 1.8E-03 0 0
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: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
80 0 1 1.8E-03 0 0