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: 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
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		1 0 1 0.14 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		1 0 1 0.14 0 0
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		1 0 1 0.14 0 0
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		1 23 1 0.14 1 3.4E-02
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		1 42 1 0.14 1 2.1E-02
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant 		1 0 1 0.14 0 0