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 42 0.11 28 4.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 52 0.14 45 6.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 28 7.9E-02 4 6.7E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 28 9.7E-02 20 4.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 25 8.5E-02 5 9.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 31 0.12 6 1.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 9 3.4E-02 1 2.6E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 24 0.11 5 1.5E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 12 5.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 12 6.1E-02 1 3.9E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 19 0.10 3 1.1E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 5.5E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 2 1.2E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 4 2.4E-02 2 3.9E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 11 7.0E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 4 2.4E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 4 2.6E-02 2 6.5E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 7 4.7E-02 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 5 3.5E-02 3 4.6E-04
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 11 8.2E-02 5 2.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 12 9.1E-02 4 2.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 5 3.6E-02 1 5.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 3 2.1E-02 1 5.7E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 7 5.2E-02 1 5.6E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 12 9.6E-02 2 1.3E-02