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: C0003129
Disease: Anoxemia
Anoxemia 		33 0 33 0.63 0 0
CUI: C0242184
Disease: Hypoxia
Hypoxia 		59 0 33 0.42 0 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		11 0 7 0.12 0 0
CUI: C0003130
Disease: Anoxia
Anoxia 		287 0 34 0.11 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 6 9.7E-02 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 0 7 9.6E-02 0 0
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		7 0 5 9.3E-02 0 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		29 0 6 8.0E-02 0 0
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		57 0 8 7.9E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 5 7.6E-02 0 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		26 0 5 6.8E-02 0 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		73 8 8 6.8E-02 1 7.1E-02
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 0 4 6.7E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 12 9 6.4E-02 2 0.12
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		88 0 8 6.1E-02 0 0
CUI: C0349489
Disease: Fetal Hypoxia
Fetal Hypoxia 		21 0 4 5.8E-02 0 0
CUI: C4476749
Disease: Crazy paving pattern on pulmonary HRCT
Crazy paving pattern on pulmonary HRCT 		3 0 3 5.8E-02 0 0
CUI: C4476917
Disease: Elevated carcinoembryonic antigen level
Elevated carcinoembryonic antigen level 		4 0 3 5.7E-02 0 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		24 5 4 5.6E-02 2 0.20
CUI: C2931035
Disease: Pulmonary alveolar proteinosis, congenital
Pulmonary alveolar proteinosis, congenital 		5 0 3 5.6E-02 0 0
CUI: C3178801
Disease: Stroke, Lacunar
Stroke, Lacunar 		24 0 4 5.6E-02 0 0
CUI: C4022660
Disease: Autoimmune antibody positivity
Autoimmune antibody positivity 		5 0 3 5.6E-02 0 0
CUI: C4281786
Disease: Presence of foam cells
Presence of foam cells 		5 0 3 5.6E-02 0 0
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		7 0 3 5.4E-02 0 0
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		47 0 5 5.3E-02 0 0