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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 163 0.14 5 1.6E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 200 0.13 5 1.5E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 163 0.13 7 2.2E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 154 0.13 2 6.5E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 162 0.13 3 9.8E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 178 0.13 13 3.7E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 153 0.13 3 9.8E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 178 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 144 0.12 7 2.4E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 182 0.12 2 6.5E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 241 0.12 3 4.4E-03
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 52 168 0.12 2 5.8E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 291 0.12 6 9.5E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 10 157 0.12 1 3.3E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 179 0.12 5 1.4E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 162 0.12 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 21 138 0.12 1 3.2E-03
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 0 181 0.12 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 145 0.12 16 5.1E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 203 0.11 8 2.3E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 171 0.11 3 8.0E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 139 0.11 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 139 0.11 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 201 0.11 3 4.2E-03
CUI: C0009806
Disease: Constipation
Constipation 		424 57 158 0.11 9 2.6E-02