Source: ALL
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: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		2 4 2 1.00 1 9.1E-02
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis 		4 3 2 0.50 2 0.22
CUI: C4540031
Disease: Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 		4 0 1 0.20 0 0
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy 		5 1 1 0.17 1 0.12
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		7 0 1 0.12 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		7 0 1 0.12 0 0
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		9 0 1 1.0E-01 0 0
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		12 0 1 7.7E-02 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 1 4.2E-02 0 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		51 22 2 3.9E-02 2 7.1E-02
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 0 1 2.6E-02 0 0
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		39 0 1 2.5E-02 0 0
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		98 10 2 2.0E-02 2 0.12
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		49 0 1 2.0E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.9E-02 0 0
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		62 0 1 1.6E-02 0 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		64 0 1 1.5E-02 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		71 0 1 1.4E-02 0 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 6 2 1.1E-02 2 0.17
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 2 9.6E-03 2 5.9E-02
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		227 14 2 8.8E-03 2 1.0E-01
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 8.5E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 2 8.0E-03 1 2.8E-03
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 1 7.9E-03 0 0
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		144 0 1 6.9E-03 0 0