| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.620 | Biomarker | disease | CTD_human | Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. | 23221805 | 2013 | ||||
|
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 | ||||
|
0.620 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.620 | Biomarker | disease | HPO | |||||||
|
0.110 | GeneticVariation | disease | BEFREE | Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. | 24376213 | 2014 | ||||
|
0.110 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. | 30894326 | 2020 |