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: C0973461
Disease: Dysphasia
Dysphasia 		63 0 19 8.6E-02 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 27 8.4E-02 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 25 8.4E-02 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 24 8.2E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 24 8.2E-02 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 24 8.2E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 24 8.0E-02 2 6.5E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 22 7.9E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 21 7.9E-02 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		71 0 18 7.9E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 39 7.8E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 26 7.8E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 26 7.7E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 32 7.7E-02 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 24 7.7E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 28 7.7E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 80 7.6E-02 7 3.9E-02
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 20 7.6E-02 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 20 7.5E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 32 7.5E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 25 7.5E-02 1 2.2E-02
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 35 7.5E-02 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 1 24 7.4E-02 1 4.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 79 7.4E-02 2 3.3E-03
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 37 7.4E-02 0 0