Disease: Bifid nose ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221363
Disease: Bifid nose
Bifid nose 		0.620 GeneticVariation disease BEFREE Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. 23401257 2013
CUI: C0221363
Disease: Bifid nose
Bifid nose 		0.620 Biomarker disease CTD_human Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. 23221805 2013
CUI: C0221363
Disease: Bifid nose
Bifid nose 		0.620 GeneticVariation disease BEFREE This study shows that MOTA syndrome is caused by mutations in FREM1, a gene previously mutated in bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome. 21507892 2011
CUI: C0221363
Disease: Bifid nose
Bifid nose 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C0221363
Disease: Bifid nose
Bifid nose 		0.620 Biomarker disease HPO