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: C1858677
Disease: LEBER CONGENITAL AMAUROSIS 3 (disorder)
LEBER CONGENITAL AMAUROSIS 3 (disorder) 		0 6 0 0 4 4.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 2.8E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 4.6E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 5.5E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 7.7E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 1 8.6E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 8.7E-03 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 9.3E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 1.1E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 3 1.1E-02 1 2.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 4 1.2E-02 1 1.7E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 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: C1836830
Disease: Developmental regression
Developmental regression 		39 78 1 1.5E-02 1 6.0E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 1.6E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 1.6E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.7E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 1.8E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 1.8E-02 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 0 1 1.9E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 0 1 2.0E-02 0 0
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 2.0E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 0 1 2.0E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 0 1 2.0E-02 0 0