FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Intestinal Pseudo-Obstruction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 GeneticVariation disease BEFREE Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA. 23037936 2013
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 GermlineCausalMutation disease ORPHANET Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA. 23037936 2013
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 GeneticVariation disease BEFREE We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction and mutations in FLNA. 20871226 2010
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 GeneticVariation disease LHGDN Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 17357080 2007
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 GeneticVariation disease BEFREE Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 17357080 2007
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 Biomarker disease HPO