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lipoid proteinosis
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ECM1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Extracellular matrix protein 1
Serum albumin-like
ONGUSAHA_BRCA1_TARGETS_UP
XU_HGF_TARGETS_INDUCED_BY_AKT1_48HR_UP
HUMMERICH_MALIGNANT_SKIN_TUMOR_UP
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OMIM - Disease of mucous membrane
OMIM - Metabolic disease
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Literature
Most Relevant Literature
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated A…
Are the kidneys involved in lipoid proteinosis? Study of 22 patients.
Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lip…
Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease).
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There were no clinical trials for lipoid proteinosis
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