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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 51 0.18 49 8.8E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 26 0.10 32 6.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 32 0.12 25 5.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 37 0.10 32 4.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 86 0.19 45 4.8E-02
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		1 18 1 4.7E-03 18 4.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 13 5.3E-02 18 4.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 17 7.1E-02 18 3.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 27 0.11 18 3.8E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 45 8 3.5E-02 16 3.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 13 5.8E-02 15 3.3E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 13 5.5E-02 15 3.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 43 0.15 18 3.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 26 0.11 15 3.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 15 6.6E-02 12 2.7E-02
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		1 39 1 4.7E-03 12 2.7E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 27 9.9E-02 14 2.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 16 6.2E-02 13 2.7E-02
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 2 9.4E-03 11 2.7E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 10 3.3E-02 14 2.7E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 12 5.0E-02 12 2.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 14 6.0E-02 11 2.5E-02