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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 100 0.20 1 6.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 143 0.19 11 4.6E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 108 0.18 2 2.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 87 0.17 1 7.5E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 106 0.17 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 110 0.17 2 1.6E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 70 0.15 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 90 0.14 3 2.9E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 58 0.14 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 88 0.14 2 1.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 157 0.14 9 4.3E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 74 0.14 3 1.9E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 66 0.14 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 63 0.13 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 77 0.13 5 4.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 163 0.13 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 94 0.13 3 2.6E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 48 0.13 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 88 0.13 1 1.5E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 105 0.13 3 2.3E-02
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 65 0.13 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 62 0.13 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 2 47 0.13 1 1.8E-02
CUI: C0008489
Disease: Chorea
Chorea 		168 20 57 0.13 1 1.3E-02
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 46 0.12 0 0