Source: CLINVAR ×
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: C0036572
Disease: Seizures
Seizures 		237 417 66 0.22 41 7.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 42 0.20 25 7.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 70 0.19 65 0.11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 30 0.16 24 9.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 39 0.16 27 7.0E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 26 0.15 16 6.6E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 43 0.15 18 3.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 22 0.14 13 5.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 23 0.14 17 7.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 22 0.14 14 6.4E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 19 0.13 15 7.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 53 0.13 9 1.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 21 0.13 15 7.0E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 31 0.12 1 2.5E-03
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 19 0.12 18 8.8E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 18 0.12 6 2.6E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 21 0.11 12 4.7E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 44 0.11 5 6.5E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 18 0.10 7 2.6E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 16 0.10 7 3.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 16 0.10 13 6.0E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 15 9.8E-02 14 7.0E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 14 9.2E-02 14 6.1E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 13 9.1E-02 9 4.8E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 14 8.9E-02 3 1.4E-02