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: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 100 0.24 110 0.14
CUI: C0036572
Disease: Seizures
Seizures 		237 417 81 0.22 92 0.12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 62 0.20 63 0.11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 86 0.19 9 8.9E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 86 0.19 45 4.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 51 0.18 49 8.8E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 51 0.16 13 2.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 43 0.15 18 3.2E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 51 0.13 3 4.0E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 32 0.12 25 5.1E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 31 0.12 6 1.2E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 29 0.11 2 4.0E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 27 0.11 18 3.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 26 0.11 15 3.2E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 26 0.10 32 6.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 37 0.10 32 4.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 27 9.9E-02 14 2.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 22 9.4E-02 10 2.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 20 8.1E-02 7 1.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 20 7.9E-02 9 1.9E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 36 17 7.7E-02 5 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 17 7.1E-02 18 3.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 16 6.9E-02 9 2.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 16 6.9E-02 10 2.3E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 16 6.8E-02 9 2.0E-02