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: C0349588
Disease: Short stature
Short stature 		190 0 1 4.7E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 6.5E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 2 8.5E-03 1 1.7E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 1 8.8E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 8.8E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 2 1.1E-02 1 2.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 4 1.1E-02 4 5.1E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 3 1.2E-02 3 5.7E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 1 1.2E-02 1 3.9E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 1.4E-02 1 4.4E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 1.4E-02 2 8.2E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.4E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.4E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 1 1.5E-02 2 8.5E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 1 1.5E-02 1 4.5E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 1.6E-02 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 1.6E-02 3 5.2E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 1.7E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 1 1.8E-02 2 9.3E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.8E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 2 1.8E-02 3 5.1E-03
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 1 1.8E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 0 1 1.8E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 1.8E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 1.9E-02 1 4.7E-03