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: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy
7 1 0 0 1 4.5E-02 0
CUI: C0338596
Disease: Spastic cerebral palsy
Spastic cerebral palsy
3 1 0 0 1 4.5E-02 0
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal
0 3 0 0 1 4.2E-02 2.0E-03
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
374 3393 1 1.7E-03 0.99 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
282 4 1 2.1E-03 0.97 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
214 0 1 2.4E-03 0.93 0 0
Neurogenic muscle atrophy, especially in the lower limbs
214 0 1 2.4E-03 0.93 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
189 6 1 2.5E-03 0.88 0 0
CUI: C1854114
Disease: Short nose
Short nose
178 4 1 2.6E-03 0.88 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
177 181 1 2.6E-03 0.85 0 0
CUI: C0426414
Disease: Small nose
Small nose
175 0 1 2.6E-03 0.87 0 0
CUI: C3552463
Disease: Very poor growth
Very poor growth
173 10 1 2.6E-03 0.88 0 0
CUI: C0456070
Disease: Growth delay
Growth delay
168 1 1 2.7E-03 0.87 0 0
CUI: C0151686
Disease: Growth retardation
Growth retardation
167 0 1 2.7E-03 0.87 0 0
CUI: C1837385
Disease: Poor growth
Poor growth
167 0 1 2.7E-03 0.87 0 0
Creatine phosphokinase serum increased
158 16 1 2.8E-03 0.86 0 0
CUI: C0151576
Disease: Elevated creatine kinase
Elevated creatine kinase
155 0 1 2.8E-03 0.84 0 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
149 0 1 2.8E-03 0.81 0 0
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
149 0 1 2.8E-03 0.81 0 0
CUI: C1855019
Disease: Psychomotor regression
Psychomotor regression
149 0 1 2.8E-03 0.81 0 0
Psychomotor regression beginning in infancy
149 0 1 2.8E-03 0.81 0 0
CUI: C1857121
Disease: Neurodevelopmental regression
Neurodevelopmental regression
149 0 1 2.8E-03 0.81 0 0
CUI: C1859678
Disease: Mental deterioration in childhood
Mental deterioration in childhood
149 0 1 2.8E-03 0.81 0 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
147 0 1 2.8E-03 0.83 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
499 33 2 2.8E-03 0.98 0 0