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: C1836830
Disease: Developmental regression
Developmental regression 		333 80 52 0.11 5 4.9E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 4 1.8E-02 4 5.1E-02
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		8 6 6 3.1E-02 3 1.0E-01
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 294 37 3.4E-02 3 9.4E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 7 2.6E-02 2 3.7E-02
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 11 2 9.2E-03 2 5.6E-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: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		35 111 9 4.2E-02 2 1.5E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		1800 1022 53 2.7E-02 2 1.9E-03
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		977 39 47 4.2E-02 2 3.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 106 0.12 2 1.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 112 5.0E-02 2 3.5E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 22 7.1E-02 2 1.7E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 12 13 1.8E-02 2 5.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 66 7.9E-02 2 1.8E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 7 2.1E-02 2 2.6E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 11 2.7E-02 2 3.8E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 1 4.1E-03 2 5.3E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 35 5.3E-02 2 1.4E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 4 1.1E-02 2 3.4E-02
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 4 1.9E-02 2 6.2E-02
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 12 6 1.9E-02 2 5.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 117 6.2E-02 2 3.5E-03
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 25 5.2E-02 2 4.2E-02