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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 751 0.37 65 1.0E-01
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 70 6.7E-02 24 9.2E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 30 3.1E-02 18 8.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 307 0.25 25 7.6E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 75 7.4E-02 15 7.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 308 0.23 17 7.2E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 83 8.0E-02 27 7.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 239 0.20 15 7.0E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 12 1.3E-02 12 7.0E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 122 9.7E-02 14 6.8E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 141 0.13 16 6.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 613 0.25 42 6.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 170 0.15 14 6.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 224 0.18 13 5.9E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 157 0.15 13 5.8E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 176 0.15 11 5.7E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 122 1.0E-01 11 5.4E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 152 0.13 10 5.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 181 0.17 9 5.1E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 17 1.8E-02 10 5.0E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 105 0.10 9 5.0E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 59 5.9E-02 9 4.8E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 150 0.14 12 4.7E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 78 7.8E-02 9 4.6E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 97 9.4E-02 9 4.5E-02