| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | GeneticVariation | disease | BEFREE | The most important clinical ENT complication in inherited EB was tracheolaryngeal stenosis or stricture, arising during early childhood and primarily within infants and children with junctional EB (JEB) (cumulative risk of 39.8% and 12.8% in Herlitz and non-Herlitz JEB, respectively, by ages 6 and 9). | 17762793 | 2007 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Here we report a novel homozygous genetic mutation (2727del14) in the plectin gene (PLEC1) associated with a lethal form of recessive inherited epidermolysis bullosa in a consanguineous family with three affected offspring. | 14675180 | 2003 | ||||
|
0.010 | Biomarker | disease | BEFREE | Although mutations in junctional EB have not been reported, findings of structural alterations in hemidesmosomes and immunohistochemical studies of kalinin (BM600 and epiligrin), and in junctional EB with pyloric atresia alterations in the integrin alpha 6 beta 4, indicate molecules involved in basal keratinocyte adhesion to the basement membrane that are candidate genes for junctional EB. | 7504435 | 1993 | ||||
|
0.010 | Biomarker | disease | BEFREE | Although mutations in junctional EB have not been reported, findings of structural alterations in hemidesmosomes and immunohistochemical studies of kalinin (BM600 and epiligrin), and in junctional EB with pyloric atresia alterations in the integrin alpha 6 beta 4, indicate molecules involved in basal keratinocyte adhesion to the basement membrane that are candidate genes for junctional EB. | 7504435 | 1993 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Although mutations in junctional EB have not been reported, findings of structural alterations in hemidesmosomes and immunohistochemical studies of kalinin (BM600 and epiligrin), and in junctional EB with pyloric atresia alterations in the integrin alpha 6 beta 4, indicate molecules involved in basal keratinocyte adhesion to the basement membrane that are candidate genes for junctional EB. | 7504435 | 1993 |