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: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		8 6 6 3.1E-02 3 1.0E-01
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		4 2 4 2.1E-02 2 7.4E-02
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		6 4 2 1.0E-02 2 6.9E-02
CUI: C0010709
Disease: Cyst
Cyst 		221 6 7 1.7E-02 2 6.5E-02
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		91 6 7 2.6E-02 2 6.5E-02
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 4 1.9E-02 2 6.2E-02
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		1 8 1 5.3E-03 2 6.1E-02
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 11 2 9.2E-03 2 5.6E-02
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 11 5 1.9E-02 2 5.6E-02
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 11 7 3.2E-02 2 5.6E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 12 13 1.8E-02 2 5.4E-02
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 12 6 1.9E-02 2 5.4E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 1 4.1E-03 2 5.3E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 4 1.8E-02 4 5.1E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 52 0.11 5 4.9E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 25 5.2E-02 2 4.2E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 11 2.7E-02 2 3.8E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 7 2.6E-02 2 3.7E-02
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 1 6 3.0E-02 1 3.7E-02
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 29 3 1.3E-02 2 3.7E-02
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		1 1 1 5.3E-03 1 3.7E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 2 50 0.16 1 3.6E-02
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		5 2 5 2.6E-02 1 3.6E-02
CUI: C4540358
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 		1 2 1 5.3E-03 1 3.6E-02
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 3 1 4.6E-03 1 3.4E-02