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: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 1 7.7E-03 2 3.6E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 7.4E-03 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 1 6.4E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.3E-03 1 4.0E-03
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 6.0E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 5.9E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 5.5E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 5.5E-03 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 1 5.2E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 4.5E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 4.4E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 4.1E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 1 4.0E-03 1 1.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 1 3.8E-03 2 2.4E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.7E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 3.5E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 3.2E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 3.0E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.6E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 14 1 1.9E-03 1 5.0E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 1 1.8E-03 1 5.1E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.6E-03 0 0