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 8.7E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 8.8E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 8.8E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 3 1.1E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.3E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 2 1.3E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.4E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 1.4E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 1.4E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.4E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.5E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.5E-02 2 2.9E-03
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.5E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.6E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 1.6E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 1.6E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.7E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.7E-02 1 1.3E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.7E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 4 1.7E-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 4.6E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		30 0 1 1.8E-02 0 0