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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 824 42 1.4E-02 1 1.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 77 7.0E-02 3 5.1E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 135 6.1E-02 3 5.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 191 0.10 1 1.8E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 63 6.4E-02 1 2.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 6.9E-02 1 2.4E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 73 4.1E-02 2 5.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 67 5.3E-02 1 3.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 32 5.9E-02 1 3.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 22 6.4E-02 1 3.9E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 49 4.9E-02 1 7.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 18 4.8E-02 1 7.5E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 6 1.6E-02 1 7.7E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 19 2.7E-02 1 7.8E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 19 3.0E-02 3 2.4E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 6 1.7E-02 1 8.2E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 80 5.8E-02 1 8.3E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 61 0.15 2 1.8E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 56 5.7E-02 1 9.7E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 83 9.9E-02 1 1.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 49 5.5E-02 1 1.1E-02
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		10 80 1 4.6E-03 2 2.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 25 4.8E-02 1 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 87 0.23 1 1.2E-02
CUI: C0018681
Disease: Headache
Headache 		338 75 10 1.9E-02 1 1.2E-02