Source: CURATED ×
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: C0020578
Disease: Hyperventilation
Hyperventilation 		0 2 0 0 1 0.33
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0 579 0 0 2 3.5E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0 41 0 0 2 4.9E-02
CUI: C0085631
Disease: Agitation
Agitation 		0 1 0 0 1 0.50
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0 62 0 0 1 1.6E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0 10 0 0 1 9.1E-02
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		0 5 0 0 1 0.17
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		0 5 0 0 1 0.17
CUI: C0349588
Disease: Short stature
Short stature 		0 292 0 0 1 3.4E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0 192 0 0 1 5.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0 505 0 0 1 2.0E-03
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0 59 0 0 1 1.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0 411 0 0 2 4.9E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0 118 0 0 1 8.4E-03
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0 19 0 0 1 5.0E-02
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		0 13 0 0 1 7.1E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0 24 0 0 1 4.0E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0 34 0 0 1 2.9E-02
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0 29 0 0 1 3.3E-02
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0 7 0 0 1 0.12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0 246 0 0 1 4.0E-03
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		3 0 1 2.9E-02 0 0
CUI: C0001969
Disease: Alcoholic Intoxication
Alcoholic Intoxication 		32 0 1 1.6E-02 0 0
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity 		7 0 1 2.6E-02 0 0
CUI: C0002871
Disease: Anemia
Anemia 		34 0 1 1.5E-02 0 0