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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
426 0 1 1.8E-03 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
274 0 1 2.5E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
269 0 1 2.5E-03 0 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
234 0 1 2.7E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
226 0 1 2.8E-03 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
225 0 1 2.8E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
219 0 1 2.8E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia
218 0 1 2.8E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 0 2 2.9E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
216 0 1 2.9E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
208 0 1 2.9E-03 0 0
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
198 0 1 3.0E-03 0 0
Abnormality of cardiovascular system morphology
198 0 1 3.0E-03 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
196 0 1 3.0E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
191 0 1 3.1E-03 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
187 0 1 3.1E-03 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
186 0 1 3.1E-03 0 0
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
185 0 1 3.1E-03 0 0
Malformations of Cortical Development, Group II
180 0 1 3.2E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
176 0 1 3.2E-03 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
175 0 1 3.2E-03 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
175 0 1 3.2E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 1 3.3E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
168 0 1 3.3E-03 0 0
Infection by Cryptococcus neoformans
167 0 1 3.3E-03 0 0