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 66 0.15 29 3.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 56 0.13 12 1.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 91 0.24 103 0.16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 29 7.9E-02 2 3.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 58 0.17 70 0.12
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 62 0.20 63 0.11
CUI: C0349588
Disease: Short stature
Short stature 		190 292 44 0.14 58 0.12
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 34 0.12 5 1.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 39 0.16 27 7.0E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 33 0.13 23 5.5E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 10 4.0E-02 1 2.7E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 32 0.15 31 9.3E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 4.0E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 33 0.15 25 7.6E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 13 5.5E-02 10 2.0E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 12 5.2E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 4 1.7E-02 6 1.3E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 18 8.3E-02 7 2.1E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 5 2.3E-02 2 3.0E-04
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 10 4.7E-02 1 2.8E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 13 6.2E-02 11 3.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 16 7.7E-02 15 4.6E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 13 6.2E-02 11 3.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 20 1.0E-01 20 6.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 24 0.12 13 4.4E-02