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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 9.0E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.0E-02 1 4.3E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.1E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 3 1.1E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.1E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.3E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.4E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.4E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 0 1 1.4E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 1.5E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 0 1 1.5E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 1 1.5E-02 1 5.5E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 1.5E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 1.5E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 1.5E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		28 0 1 1.5E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 3 1.5E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 2 1.6E-02 1 3.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.6E-02 3 4.1E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 4 1.6E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 1.6E-02 0 0
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 0 1 1.6E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 1 1.7E-02 1 5.6E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 0 1 1.7E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 0 1 1.7E-02 0 0