MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Respiratory Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.420 Biomarker disease BEFREE Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.420 Biomarker disease CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.420 GeneticVariation disease BEFREE MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures. 16832102 2006
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.420 CausalMutation disease CLINVAR