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: C0858600
Disease: Taste sweet
Taste sweet 		41 0 1 8.3E-04 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 8.3E-04 0 0
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		41 0 1 8.3E-04 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 8.3E-04 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 8.3E-04 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 1 8.3E-04 0 0
CUI: C0004158
Disease: Athetosis
Athetosis 		39 0 1 8.3E-04 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 1 8.3E-04 0 0
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		38 0 1 8.3E-04 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 1 8.3E-04 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 1 8.3E-04 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 1 8.3E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 8.3E-04 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 1 8.3E-04 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 1 8.3E-04 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 8.3E-04 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 8.3E-04 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 1 8.3E-04 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 1 8.3E-04 0 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 1 8.3E-04 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 8.3E-04 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 1 8.3E-04 0 0
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		33 20 1 8.3E-04 1 1.2E-02
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 1 8.3E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 8.3E-04 0 0