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: C0036572
Disease: Seizures
Seizures 		237 0 1 3.8E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.3E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 2 5.5E-03 2 2.8E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 3 8.4E-03 1 1.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 2 8.5E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 8.8E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 1 1.1E-02 18 2.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 2 1.1E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 4 1.2E-02 3 4.7E-03
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: C0856975
Disease: Autistic behavior
Autistic behavior 		44 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: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.5E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 1.6E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.6E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 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: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.7E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.8E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 0 1 1.8E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 2 1.8E-02 1 3.9E-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