DisGeNET - a database of gene-disease associations

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1, C3553617

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918661

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs121918662

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs121918663

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs121918666

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs387907249

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs387907250

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs387907251

TERT

0.800

GeneticVariation

UNIPROT

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

22512499

2012

dbSNP:

rs121918661

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs121918661

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs121918662

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs121918662

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs121918663

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs121918663

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs121918666

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs121918666

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs387907249

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs387907249

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs387907250

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs387907250

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs387907251

TERT

0.800

GeneticVariation

UNIPROT

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

21483807

2011

dbSNP:

rs387907251

TERT

0.800

GeneticVariation

UNIPROT

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

21436073

2011

dbSNP:

rs121918661

TERT

0.800

GeneticVariation

UNIPROT

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

17460043

2007

dbSNP:

rs121918662

TERT

0.800

GeneticVariation

UNIPROT

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

17460043

2007

dbSNP:

rs121918663

TERT

0.800

GeneticVariation

UNIPROT

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

17460043

2007

dbSNP:

rs121918666

TERT

0.800

GeneticVariation

UNIPROT

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

17460043

2007