ECM1, extracellular matrix protein 1, 1893

N. diseases: 120; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909116
rs121909116
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		0.800 GeneticVariation UNIPROT Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. 12603844 2003
dbSNP: rs121909116
rs121909116
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		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
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869025566
rs869025566
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		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
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		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
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		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
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		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
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		T 0.710 CausalMutation CLINVAR
dbSNP: rs869025565
rs869025565
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		C 0.700 CausalMutation CLINVAR Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. 25529926 2015
dbSNP: rs869025565
rs869025565
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		C 0.700 CausalMutation CLINVAR A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. 17199583 2007
dbSNP: rs869025565
rs869025565
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		C 0.700 CausalMutation CLINVAR The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. 17927570 2007
dbSNP: rs869025567
rs869025567
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		TT 0.700 CausalMutation CLINVAR The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. 17927570 2007
dbSNP: rs746217361
rs746217361
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		T 0.700 CausalMutation CLINVAR Lipoid proteinosis: case report and review of the literature. 17063986 2006
dbSNP: rs869025564
rs869025564
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		TC 0.700 CausalMutation CLINVAR Clinical and molecular abnormalities in lipoid proteinosis. 16172042 2006
dbSNP: rs869025564
rs869025564
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		TC 0.700 CausalMutation CLINVAR Lipoid proteinosis. 12472532 2002
dbSNP: rs121909114
rs121909114
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909115
rs121909115
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1560265435
rs1560265435
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560267428
rs1560267428
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778473713
rs778473713
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		C 0.700 CausalMutation CLINVAR
dbSNP: rs3737240
rs3737240
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE The TT genotype of ECM1 gene rs3737240 SNP significantly increased susceptibility for UC and azathioprine use in UC patients in a Turkish population. 28699600 2017
dbSNP: rs1157037565
rs1157037565
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		0.010 GeneticVariation BEFREE Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. 23534907 2015
dbSNP: rs370285146
rs370285146
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		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
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		0.010 GeneticVariation BEFREE Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. 23534907 2015
dbSNP: rs3737240
rs3737240
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
CUI: C0023795
Disease:
Lipoid Proteinosis of Urbach and Wiethe 		0.010 GeneticVariation BEFREE The homozygous point mutation c.389C>T in ECM1 may be a novel mutation causing LP. 23534907 2015