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 4.0E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.8E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 7.5E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 1 1.0E-02 2 1.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 1.0E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 1 1.0E-02 1 3.6E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 1 1.3E-02 1 1.6E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 3 1.4E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 1 1.4E-02 1 9.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 2 1.5E-02 1 5.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 5 1.5E-02 3 5.0E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 5 1.5E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.6E-02 6 1.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 1 1.8E-02 1 1.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 1.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.9E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 2.0E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 1 2.0E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.4E-02 1 1.8E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 4 2.4E-02 1 3.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 6 2.5E-02 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 42 1 2.5E-02 1 1.7E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 2.5E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 0 1 2.5E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 2.6E-02 0 0