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: C0004096
Disease: Asthma
Asthma 		2096 1536 59 2.5E-02 1 6.4E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 46 6.5E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 154 0.14 5 8.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 213 9.5E-02 2 3.5E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 163 8.3E-02 2 3.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 19 3.8E-02 3 7.0E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 55 4.0E-02 3 7.2E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 103 5.3E-02 1 3.1E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 50 8.0E-02 2 7.5E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 23 5.1E-02 4 1.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 55 6.7E-02 5 2.4E-02
CUI: C0027092
Disease: Myopia
Myopia 		490 167 45 5.9E-02 1 5.3E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 68 7.7E-02 1 5.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 128 0.11 2 1.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 132 0.13 2 1.3E-02
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		9 134 6 1.9E-02 3 1.9E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 16 3.5E-02 2 1.4E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 46 5.9E-02 2 1.4E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 51 7.3E-02 1 7.0E-03
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		294 116 22 3.8E-02 1 7.2E-03
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 108 5 1.5E-02 1 7.7E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 30 5.4E-02 1 7.8E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 59 8.4E-02 2 1.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 115 0.11 3 2.6E-02
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 37 8.8E-02 2 1.8E-02