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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 1 8.8E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 8.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.0E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 4 1.1E-02 1 1.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 3 1.2E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.3E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 3 1.3E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.3E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 1.4E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 1.5E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 1 1.6E-02 1 5.0E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.6E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 3 1.6E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 6 1.7E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.7E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.7E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 0 1 1.7E-02 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 1 1.8E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 0 1 1.8E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 6 1.9E-02 2 3.1E-03
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 1.9E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 1.9E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		27 0 1 1.9E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 1 2.0E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 3 2.0E-02 1 3.2E-03