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: C0020578
Disease: Hyperventilation
Hyperventilation 		2 2 2 0.29 2 0.29
CUI: C0018672
Disease: Head Banging
Head Banging 		3 3 2 0.25 1 0.11
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 3 0.23 1 5.9E-02
CUI: C1866231
Disease: Full cheeks
Full cheeks 		4 4 2 0.22 2 0.22
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		5 5 2 0.20 1 9.1E-02
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		7 11 2 0.17 1 5.9E-02
CUI: C0010520
Disease: Cyanosis
Cyanosis 		1 1 1 0.14 1 0.14
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		1 1 1 0.14 1 0.14
CUI: C0019825
Disease: Hoarseness
Hoarseness 		1 1 1 0.14 1 0.14
CUI: C0085417
Disease: Epilepsy, Complex Partial
Epilepsy, Complex Partial 		1 0 1 0.14 0 0
CUI: C0085631
Disease: Agitation
Agitation 		1 1 1 0.14 1 0.14
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		1 3 1 0.14 1 0.11
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		1 0 1 0.14 0 0
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		1 1 1 0.14 1 0.14
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		1 0 1 0.14 0 0
CUI: C0425492
Disease: Irregular breathing
Irregular breathing 		1 0 1 0.14 0 0
CUI: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere Syndrome 1 		1 21 1 0.14 1 3.7E-02
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		1 0 1 0.14 0 0
CUI: C1608410
Disease: Head titubation
Head titubation 		1 0 1 0.14 0 0
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		1 0 1 0.14 0 0
CUI: C1844946
Disease: Episodic hypoventilation
Episodic hypoventilation 		1 0 1 0.14 0 0
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		1 8 1 0.14 1 7.1E-02
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		1 8 1 0.14 1 7.1E-02
CUI: C1851808
Disease: Premature delivery because of cervical insufficiency or membrane fragility
Premature delivery because of cervical insufficiency or membrane fragility 		1 0 1 0.14 0 0
CUI: C1856963
Disease: Fragile nails
Fragile nails 		1 1 1 0.14 1 0.14