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 58 0.14 28 3.8E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 58 0.14 3 3.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 68 0.19 81 0.13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 33 0.10 1 1.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 52 0.17 50 8.9E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 51 0.18 49 8.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 37 0.13 26 5.7E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 32 0.13 5 1.2E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 33 0.13 23 5.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 42 0.20 25 7.6E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 5 2.3E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 20 0.10 16 5.4E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 3 1.4E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 24 0.13 16 5.7E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 14 7.1E-02 8 1.8E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 19 0.10 3 1.1E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 5 2.5E-02 1 2.4E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 47 0.31 38 0.15
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 3 1.6E-02 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 18 0.11 11 3.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 17 1.0E-01 5 1.9E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 10 5.6E-02 3 1.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 9 5.1E-02 7 2.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 23 0.14 14 5.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 21 0.13 8 3.2E-02