Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.480 | GeneticVariation | disease | BEFREE | We hypothesized that PNPLA1 mutations might affect lipophagy-mediated regulation of LDs and cause intracellular lipid accumulation in ARCI patients. | 30655104 | 2019 | ||||
|
0.480 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.480 | Biomarker | disease | HPO | |||||||
|
0.480 | GeneticVariation | disease | BEFREE | Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis. | 31833240 | 2020 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. | 27751867 | 2017 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | In this review, we overview the biosynthetic route and biological role of epidermal ω-O-acylceramide, highlight the function of PNPLA1 as a bona fide acylceramide synthase required for proper skin barrier function and keratinocyte differentiation, and summarize the mutations of PNPLA1 currently identified in ARCI patients. | 30290227 | 2019 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. | 28369476 | 2017 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. | 27884779 | 2017 | ||||
|
0.480 | CausalMutation | disease | CLINVAR | Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. | 28403545 | 2017 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. | 31120544 | 2019 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. | 22246504 | 2012 |