Disease: FRASER SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 CausalMutation disease CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866 2016
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular study of 33 families with Fraser syndrome new data and mutation review. 18671281 2008
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Fraser syndrome due to homozygosity for a splice site mutation of FREM2. 18203166 2008
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. 17163535 2007
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 16894541 2006
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. 12766769 2003
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND A mouse model for Fraser syndrome? 8055142 1994
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		0.400 GeneticVariation disease CLINVAR