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: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 1 5.5E-04 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 1 5.5E-04 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 1 5.5E-04 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 1 5.5E-04 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 1 5.5E-04 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 5.5E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 5.5E-04 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 1 5.5E-04 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 5.5E-04 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 1 5.5E-04 0 0
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		35 0 1 5.5E-04 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 1 5.6E-04 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 1 5.6E-04 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 9 1 5.6E-04 1 2.8E-03
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		33 0 1 5.6E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 5.6E-04 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 1 5.6E-04 0 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		31 0 1 5.6E-04 0 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		30 0 1 5.6E-04 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 1 5.6E-04 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 1 5.6E-04 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 1 5.6E-04 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 1 5.6E-04 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 1 5.6E-04 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 1 5.6E-04 0 0