Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 Biomarker disease GENOMICS_ENGLAND Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. 24700879 2014
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 GeneticVariation disease BEFREE Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH. 23221805 2013
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 GeneticVariation disease BEFREE These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. 23401257 2013
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 GermlineCausalMutation disease ORPHANET The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. 23401257 2013
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 Biomarker disease CTD_human Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH. 23221805 2013
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 GeneticVariation disease UNIPROT FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 19732862 2009
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 GermlineCausalMutation disease ORPHANET FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 19732862 2009
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 Biomarker disease GENOMICS_ENGLAND Micro-ablepharon of the upper eyelids and vaginal atresia. 11332973 2001
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.720 CausalMutation disease CLINVAR