Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | CausalMutation | disease | CLINVAR | |||||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Micro-ablepharon of the upper eyelids and vaginal atresia. | 11332973 | 2001 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. | 19732862 | 2009 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. | 19732862 | 2009 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 |