| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.520 | GeneticVariation | disease | BEFREE | Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) and LDL receptor-related protein 1 (<i>LRP1</i>), variations of which have been associated with autism spectrum disorder and keratosis pilaris atrophicans, respectively. | 29545257 | 2018 | ||||
|
0.520 | Biomarker | disease | BEFREE | The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1. | 26142438 | 2015 | ||||
|
0.520 | GeneticVariation | disease | UNIPROT | The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1. | 26142438 | 2015 | ||||
|
0.520 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. | 30417923 | 2019 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) and LDL receptor-related protein 1 (<i>LRP1</i>), variations of which have been associated with autism spectrum disorder and keratosis pilaris atrophicans, respectively. | 29545257 | 2018 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | This is the first report on LRP1 as a pathogenic gene for autosomal recessive KPA and keratosis pilaris. | 26142438 | 2015 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. | 23673306 | 2013 |