Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.030 GeneticVariation disease BEFREE The syndrome is known to be caused by mutations or deletions of the NSD1 gene. 19596467 2009
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.030 GeneticVariation disease BEFREE The aim of this study was to investigate psychosocial, cognitive, and motor functioning in patients clinically suspected of Sotos syndrome and to examine differences between patients with deletions or mutations of the gene encoding nuclear SET domain-containing protein 1 (NSD1; the major cause of the syndrome) and those without such alterations. 16780628 2006
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.030 GeneticVariation disease BEFREE The syndrome is due to haploinsufficiency of the NSD1 gene, consisting of 23 exons with an open reading frame of 8088bp, which makes mutation screening by direct sequencing quite a laborious and expensive task. 15720303 2005