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: C0028077
Disease: Night Blindness
Night Blindness
131 18 5 2.5E-03 1.00 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
58 121 1 5.3E-04 1.00 0 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
125 0 5 2.5E-03 1.00 0 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
147 0 7 3.5E-03 0.99 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
118 0 5 2.6E-03 0.99 0 0
CUI: C0037361
Disease: Smell Perception
Smell Perception
46 184 1 5.3E-04 0.99 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
52 0 1 5.3E-04 0.99 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
43 14 1 5.3E-04 0.99 0 0
Abnormal urinary amino-acid findings
47 0 1 5.3E-04 0.99 0 0
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia
42 0 1 5.3E-04 0.99 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
54 514 2 1.1E-03 0.98 1 1.5E-03 0.47
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
54 514 2 1.1E-03 0.98 1 1.5E-03 0.47
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
143 2 8 4.0E-03 0.98 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
144 1 8 4.0E-03 0.98 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
51 0 2 1.1E-03 0.97 0 0
CUI: C1855009
Disease: Psychomotor regression in infants
Psychomotor regression in infants
152 9 9 4.5E-03 0.97 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
31 12 1 5.3E-04 0.97 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
80 1 4 2.1E-03 0.97 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
53 2 2 1.1E-03 0.97 0 0
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
31 37 1 5.3E-04 0.97 0 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
149 0 9 4.5E-03 0.97 0 0
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
149 0 9 4.5E-03 0.97 0 0
CUI: C1855019
Disease: Psychomotor regression
Psychomotor regression
149 0 9 4.5E-03 0.97 0 0
Psychomotor regression beginning in infancy
149 0 9 4.5E-03 0.97 0 0
CUI: C1857121
Disease: Neurodevelopmental regression
Neurodevelopmental regression
149 0 9 4.5E-03 0.97 0 0