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: C0027080
Disease: Myoglobinuria
Myoglobinuria
17 1 1 4.8E-02 1 0.33
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia
15 1 1 5.3E-02 1 0.33
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval
25 1 1 3.4E-02 1 0.33
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE
1 1 1 0.20 1 0.33
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe
6 1 1 1.0E-01 1 0.33
Atrophy/Degeneration affecting the cerebrum
1 1 1 0.20 1 0.33
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature
1 1 1 0.20 1 0.33
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
51 2 1 1.8E-02 1 0.25
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy
25 2 1 3.4E-02 1 0.25
CUI: C0431670
Disease: Webbed penis
Webbed penis
2 2 1 0.17 1 0.25
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds
2 2 1 0.17 1 0.25
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
29 2 1 3.0E-02 1 0.25
Aplasia/Hypoplasia of the cerebellar vermis
30 2 1 2.9E-02 1 0.25
CUI: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis
5 2 1 0.11 1 0.25
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle
4 2 1 0.12 1 0.25
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness
6 2 1 1.0E-01 1 0.25
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
39 3 1 2.3E-02 1 0.20
CUI: C0566899
Disease: Small labia majora
Small labia majora
35 3 1 2.6E-02 1 0.20
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia
5 3 1 0.11 1 0.20
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis
5 3 1 0.11 1 0.20
CUI: C0009024
Disease: Clonus
Clonus
60 4 1 1.6E-02 1 0.17
CUI: C0234860
Disease: Weak cry
Weak cry
42 4 1 2.2E-02 1 0.17
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
41 4 1 2.2E-02 1 0.17
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle
11 4 1 6.7E-02 1 0.17
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele
21 5 1 4.0E-02 1 0.14