Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909116
rs121909116
ECM1
0.800 GeneticVariation UNIPROT Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. 12603844

2003
dbSNP: rs121909116
rs121909116
ECM1
0.800 GeneticVariation UNIPROT Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). 11929856

2002
dbSNP: rs121909116
rs121909116
ECM1
A 0.800 CausalMutation CLINVAR

dbSNP: rs869025566
rs869025566
ECM1
0.720 GeneticVariation BEFREE Patients with LP in the present study exhibited point mutations in the ECM1 gene, including one homozygous mutation (C220G) as previously reported, and one novel homozygous mutation c.508insCTG and two heterozygous mutations (C220G/P.R481X and c507delT/c.l473delT). 29693130

2018
dbSNP: rs869025566
rs869025566
ECM1
G 0.720 CausalMutation CLINVAR A homozygous missense mutation p.C220G of ECM1 was identified by Sanger sequencing, which is a major allele in Chinese patients with LP. 24708644

2014
dbSNP: rs869025566
rs869025566
ECM1
0.720 GeneticVariation BEFREE A homozygous missense mutation p.C220G of ECM1 was identified by Sanger sequencing, which is a major allele in Chinese patients with LP. 24708644

2014
dbSNP: rs869025563
rs869025563
ECM1
0.710 GeneticVariation BEFREE Haplotype analysis using markers from a 9.98-Mb region around the ECM1 locus confirmed the founder effect with a founder core haplotype, 19-Q276X-12 (ND1-ECM1-D1S2343), in all but four LiP-associated alleles (n = 58). 15327549

2004
dbSNP: rs869025563
rs869025563
ECM1
T 0.710 CausalMutation CLINVAR

dbSNP: rs869025565
rs869025565
ECM1
C 0.700 CausalMutation CLINVAR Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. 25529926

2015
dbSNP: rs869025565
rs869025565
ECM1
C 0.700 CausalMutation CLINVAR A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. 17199583

2007
dbSNP: rs869025565
rs869025565
ECM1
C 0.700 CausalMutation CLINVAR The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. 17927570

2007
dbSNP: rs869025567
rs869025567
ECM1
TT 0.700 CausalMutation CLINVAR The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. 17927570

2007
dbSNP: rs746217361
rs746217361
ECM1
T 0.700 CausalMutation CLINVAR Lipoid proteinosis: case report and review of the literature. 17063986

2006
dbSNP: rs869025564
rs869025564
ECM1
TC 0.700 CausalMutation CLINVAR Clinical and molecular abnormalities in lipoid proteinosis. 16172042

2006
dbSNP: rs869025564
rs869025564
ECM1
TC 0.700 CausalMutation CLINVAR Lipoid proteinosis. 12472532

2002
dbSNP: rs121909114
rs121909114
ECM1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909115
rs121909115
ECM1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1560265435
rs1560265435
ECM1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560267428
rs1560267428
ECM1
T 0.700 CausalMutation CLINVAR

dbSNP: rs778473713
rs778473713
ECM1
C 0.700 CausalMutation CLINVAR

dbSNP: rs370285146
rs370285146
ECM1
0.010 GeneticVariation BEFREE Genetic testing of theECM1 gene showed a homozygous nonsense mutation c.1441C > T (p.Arg481X) in exon 10, confirming the diagnosis of lipoid proteinosis. 24079542

2015
dbSNP: rs3737240
rs3737240
ECM1
0.010 GeneticVariation BEFREE The homozygous point mutation c.389C>T in ECM1 may be a novel mutation causing LP. 23534907

2015
dbSNP: rs369508778
rs369508778
ECM1
0.010 GeneticVariation BEFREE Study strengthens the conclusion that c.742G>T mutation is the pathological cause of LP. 24413997

2014
dbSNP: rs121917834
rs121917834
SFTPC
0.010 GeneticVariation BEFREE We reported previously that unlike the BRICHOS misfolding SFTPC mutants, expression of hSP-C(I73T) induces lung remodeling and alveolar lipoproteinosis without a substantial Endoplasmic Reticulum (ER) stress response or ER-mediated intrinsic apoptosis. 21707890

2011