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: C0042798
Disease: Low Vision
Low Vision 		32 41 4 8.9E-02 5 8.6E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 3 6.4E-02 5 7.5E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 3 1.2E-02 4 9.2E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.5E-02 4 1.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 3 9.5E-03 4 7.6E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 3 1.3E-02 4 9.3E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		23 23 2 5.3E-02 3 7.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 2 2.6E-02 3 2.7E-02
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		7 11 2 9.1E-02 3 1.0E-01
CUI: C0575802
Disease: Small hand
Small hand 		24 31 3 7.9E-02 3 6.0E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 24 2 5.6E-02 3 7.0E-02
CUI: C1843108
Disease: Short palm
Short palm 		11 13 3 0.12 3 9.4E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		15 21 3 0.10 3 7.5E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 0.11 3 0.13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 3 1.7E-02 3 1.1E-02
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 3 6.5E-02 2 2.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		9 13 1 4.0E-02 2 6.1E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 1 1.7E-02 2 2.5E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 2 4.2E-02 2 3.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 4 1.1E-02 2 3.3E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 3 3.9E-02 2 1.9E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 2.9E-02 2 3.7E-02
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 2 8.7E-02 2 6.5E-02
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 4.8E-02 2 7.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 1 1.7E-02 2 2.4E-02