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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		2723 2387 41 1.4E-02 1 4.1E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 1085 52 2.1E-02 1 9.0E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		1800 1022 53 2.7E-02 2 1.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 112 5.0E-02 2 3.5E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 117 6.2E-02 2 3.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 6 1.5E-02 1 2.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 60 6.9E-02 1 2.8E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 39 2.1E-02 1 3.1E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 294 37 3.4E-02 3 9.4E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 19 2.4E-02 1 3.2E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 8 2.3E-02 1 3.7E-03
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		666 194 26 3.1E-02 1 4.5E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		344 186 8 1.5E-02 1 4.7E-03
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		12 179 1 5.0E-03 1 4.9E-03
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		27 158 4 1.9E-02 1 5.4E-03
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		538 154 9 1.3E-02 1 5.6E-03
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		9 134 2 1.0E-02 2 1.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 11 3.2E-02 1 6.8E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 35 5.3E-02 2 1.4E-02
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		294 116 17 3.6E-02 1 7.0E-03
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		35 111 9 4.2E-02 2 1.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 8 1.8E-02 1 7.6E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 75 0.13 1 8.1E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 106 0.12 2 1.7E-02
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 22 7.1E-02 2 1.7E-02