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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 1 2.9E-03 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.1E-03 1 2.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.6E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 2 5.9E-03 1 1.6E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 6.1E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 2 6.5E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 7.5E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 2 8.3E-03 1 2.7E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 1.1E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.2E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.5E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 1 1.5E-02 1 9.3E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.6E-02 2 6.5E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 2 2.2E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 2.4E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 2.4E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 0 1 2.5E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 1 2.8E-02 1 1.8E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 1 2.9E-02 1 1.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 1 2.9E-02 1 2.0E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 2.9E-02 1 2.1E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 1 2.9E-02 1 2.2E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 2 2.9E-02 1 7.6E-03
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 1 3.0E-02 1 2.0E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 24 1 3.7E-02 1 2.5E-02