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: C1384666
Disease: hearing impairment
hearing impairment 		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: C0036572
Disease: Seizures
Seizures 		237 0 3 1.2E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 2 1.4E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.4E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 1.5E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.6E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 3 1.6E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 1.7E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.7E-02 1 1.4E-03
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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 2 1.8E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.8E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 1 1.8E-02 1 5.6E-03
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 1 1.8E-02 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 1.8E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		30 0 1 1.8E-02 0 0