DisGeNET - a database of gene-disease associations

COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912773

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.800

GeneticVariation

UNIPROT

A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.

11912005

2002

dbSNP:

rs121912773

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.800

GeneticVariation

UNIPROT

Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.

10951237

2000

dbSNP:

rs121912773

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.800

GeneticVariation

UNIPROT

Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.

10652291

2000

dbSNP:

rs121912773

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.800

GeneticVariation

UNIPROT

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

9199555

1997

dbSNP:

rs121912773

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

8669466

1996

dbSNP:

rs121912773

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs797045142

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C1852551
Disease:

Epithelial Recurrent Erosion Dystrophy

0.800

GeneticVariation

UNIPROT

dbSNP:

rs797045142

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C1852551
Disease:

Epithelial Recurrent Erosion Dystrophy

0.800

CausalMutation

CLINVAR

dbSNP:

rs760714959

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C1852551
Disease:

Epithelial Recurrent Erosion Dystrophy

0.720

GeneticVariation

BEFREE

Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.

29708937

2018

dbSNP:

rs760714959

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C1852551
Disease:

Epithelial Recurrent Erosion Dystrophy

0.720

GeneticVariation

BEFREE

We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1.

25676728

2015

dbSNP:

rs760714959

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C1852551
Disease:

Epithelial Recurrent Erosion Dystrophy

0.720

CausalMutation

CLINVAR

dbSNP:

rs11191909

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs1747677

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs2274107

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs61376250

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs805693

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs805694

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs805722

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs9971100

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0008312
Disease:

Primary biliary cirrhosis

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

23000144

2012

dbSNP:

rs1320448

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C1383860
Disease:

Cardiac Hypertrophy

0.700

GeneticVariation

GWASDB

Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

21348951

2011

dbSNP:

rs1320448

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0018800
Disease:

Cardiomegaly

0.700

GeneticVariation

GWASCAT

Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

21348951

2011

dbSNP:

rs752317971

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.700

CausalMutation

CLINVAR

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

21357940

2011

dbSNP:

rs1478395810

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.700

GeneticVariation

CLINVAR

Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications.

19340010

2009

dbSNP:

rs1478395810

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.700

GeneticVariation

CLINVAR

Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.

16354180

2005

dbSNP:

rs775244527

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.700

GeneticVariation

CLINVAR

A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.

14614394

2004