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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 23 0.14 14 5.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 23 0.14 17 7.3E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 11 0.13 10 8.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 17 0.13 15 8.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 12 0.13 18 0.13
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 10 0.12 6 5.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 10 0.12 5 3.9E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 9 0.11 8 7.4E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 0.11 18 3.8E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 10 0.11 9 7.2E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 29 0.11 31 6.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 13 0.11 4 2.3E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 9 0.11 6 4.7E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 10 0.10 6 4.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 10 0.10 10 7.1E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 7 1.0E-01 8 8.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 20 1.0E-01 20 6.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 11 9.8E-02 12 7.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 8 9.6E-02 5 4.3E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 8 9.5E-02 7 6.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 9 9.4E-02 5 3.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 10 9.3E-02 4 2.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 31 9.3E-02 39 7.1E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 8 8.9E-02 6 5.0E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 7 8.9E-02 4 3.7E-02