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: C0037036
Disease: Sialorrhea
Sialorrhea
32 1 5 1.6E-02 1 0.17
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea
5 1 2 6.7E-03 1 0.17
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis
112 2 4 9.9E-03 1 0.14
CUI: C0272051
Disease: Xerocytosis
Xerocytosis
20 3 6 1.9E-02 1 0.12
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode
27 3 1 3.1E-03 1 0.12
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
1 3 1 3.4E-03 1 0.12
CUI: C1840437
Disease: Isolated hyperchlorhidrosis
Isolated hyperchlorhidrosis
1 5 1 3.4E-03 1 1.0E-01
CUI: C0023380
Disease: Lethargy
Lethargy
160 6 17 3.9E-02 1 9.1E-02
CUI: C4551520
Disease: Intention tremor
Intention tremor
20 6 1 3.2E-03 1 9.1E-02
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
102 8 24 6.4E-02 1 7.7E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
205 8 13 2.7E-02 1 7.7E-02
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
43 10 2 6.0E-03 1 6.7E-02
CUI: C0022638
Disease: Ketosis
Ketosis
119 11 21 5.3E-02 1 6.2E-02
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
127 14 4 9.6E-03 1 5.3E-02
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice
59 14 2 5.7E-03 1 5.3E-02
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
20 19 2 6.4E-03 1 4.2E-02
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay
27 21 3 9.4E-03 1 3.8E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia
85 29 4 1.1E-02 1 2.9E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia
142 29 3 6.9E-03 1 2.9E-02
CUI: C1837142
Disease: Poor suck
Poor suck
103 31 4 1.0E-02 1 2.8E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
300 32 25 4.4E-02 1 2.7E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
285 38 12 2.1E-02 1 2.3E-02
CUI: C0018621
Disease: Hay fever
Hay fever
114 42 15 3.8E-02 1 2.1E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 54 10 1.3E-02 1 1.7E-02
Isovaleryl-CoA dehydrogenase deficiency
22 55 2 6.3E-03 1 1.7E-02