Source: ALL
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: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		2 5 2 4.1E-02 2 0.25
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 2 4.0E-02 3 0.20
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		6 1 2 3.8E-02 1 0.20
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		1 7 1 2.0E-02 2 0.20
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 2 8 0.11 1 0.17
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		42 3 2 2.2E-02 1 0.14
CUI: C0085631
Disease: Agitation
Agitation 		109 4 1 6.4E-03 1 0.12
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		84 4 3 2.3E-02 1 0.12
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 24 4 5.3E-02 3 0.12
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 6 1 7.8E-03 1 1.0E-01
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		1 8 1 2.0E-02 1 8.3E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 10 2 1.0E-02 1 7.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 11 15 5.1E-02 1 6.7E-02
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		1 12 1 2.0E-02 1 6.2E-02
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 29 3 2.9E-02 2 6.2E-02
CUI: C3810354
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 		1 14 1 2.0E-02 1 5.6E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 5 3.1E-02 3 4.9E-02
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 2 1.9E-02 1 4.2E-02
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		237 21 3 1.1E-02 1 4.0E-02
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 23 2 8.5E-03 1 3.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 17 3.7E-02 2 3.3E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		64 34 2 1.8E-02 1 2.6E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 8 2.2E-02 1 2.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 8 1.3E-02 3 1.5E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 4 7.7E-03 1 1.5E-02