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: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 5.7E-04 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 5.7E-04 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 1 5.7E-04 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 5.7E-04 0 0
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		43 0 1 5.7E-04 0 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		41 0 1 5.7E-04 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 5.7E-04 0 0
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		41 0 1 5.7E-04 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 5.7E-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 5.7E-04 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 1 5.7E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 5.7E-04 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 0 1 5.7E-04 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 5.7E-04 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 5.7E-04 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 1 5.7E-04 0 0
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		35 0 1 5.7E-04 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 1 5.7E-04 0 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		34 0 1 5.7E-04 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 5.7E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 5.7E-04 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 1 5.8E-04 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		31 0 1 5.8E-04 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 5.8E-04 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 1 5.8E-04 0 0