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: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
29 0 1 3.5E-04 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness
28 0 1 3.5E-04 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
26 0 1 3.5E-04 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
25 0 1 3.5E-04 0 0
CUI: C0155707
Disease: Trifascicular block
Trifascicular block
23 0 1 3.5E-04 0 0
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
23 71 1 3.5E-04 1 2.5E-03
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding)
23 0 1 3.5E-04 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes
23 0 1 3.5E-04 0 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting
22 0 1 3.5E-04 0 0
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss
22 0 1 3.5E-04 0 0
CUI: C3890602
Disease: Bodily Pain
Bodily Pain
22 4 1 3.5E-04 1 3.0E-03
Walker-Warburg congenital muscular dystrophy
21 0 1 3.5E-04 0 0
CUI: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia
21 0 1 3.5E-04 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof
21 0 1 3.5E-04 0 0
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1
20 0 1 3.5E-04 0 0
Autosomal Recessive Hereditary Spastic Paraplegia
20 0 1 3.5E-04 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
20 0 1 3.5E-04 0 0
CUI: C4551520
Disease: Intention tremor
Intention tremor
20 0 1 3.5E-04 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression
19 0 1 3.5E-04 0 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis
19 0 1 3.5E-04 0 0
Aplasia/Hypoplasia involving the skeletal musculature
19 0 1 3.5E-04 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal
18 0 1 3.5E-04 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
18 0 1 3.5E-04 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness
18 0 1 3.5E-04 0 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration
18 0 1 3.5E-04 0 0