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: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
101 0 1 9.7E-03 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
102 0 1 9.6E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
105 0 1 9.3E-03 0 0
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
108 0 1 9.1E-03 0 0
Aplasia/Hypoplasia of the corpus callosum
108 0 1 9.1E-03 0 0
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
114 0 1 8.6E-03 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 1 8.1E-03 0 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
127 0 1 7.8E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
129 0 1 7.6E-03 0 0
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
131 0 1 7.5E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
144 0 1 6.8E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
146 0 1 6.8E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia
148 0 1 6.7E-03 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
156 0 1 6.3E-03 0 0
Flexion contracture of proximal interphalangeal joint
168 0 1 5.9E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
169 0 1 5.8E-03 0 0
CUI: C1519689
Disease: Tumor Promotion
Tumor Promotion
170 0 1 5.8E-03 0 0
Small for gestational age (disorder)
181 0 1 5.5E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 0 1 5.4E-03 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
189 0 1 5.2E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
190 0 1 5.2E-03 0 0
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
191 0 1 5.2E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
191 0 1 5.2E-03 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth
192 0 1 5.2E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 2 9.5E-03 0 0