Source: INFERRED ×
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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 109 0.19 7 5.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 89 0.18 8 7.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 156 0.15 13 5.8E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 76 61 0.15 5 3.5E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		319 0 72 0.15 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 51 0.15 6 7.6E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 93 0.15 5 4.7E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 72 0.15 16 0.14
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		476 0 90 0.15 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		146 0 48 0.15 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		281 0 65 0.15 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		105 94 42 0.14 2 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 208 0.14 27 4.9E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		154 25 47 0.14 7 7.8E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		228 13 55 0.14 1 1.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 129 0.13 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 65 0.13 6 4.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 92 0.13 9 3.5E-02
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 36 0.13 2 2.4E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		150 25 44 0.13 6 6.6E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 6 39 0.13 1 1.3E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 49 0.13 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 93 50 0.12 6 3.8E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 43 0.12 21 7.1E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 62 0.12 5 7.4E-03