|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
|
29146883 |
2018 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
|
28930861 |
2017 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
|
28099038 |
2017 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.
|
26808564 |
2016 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.
|
27128385 |
2016 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
|
26025130 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
|
25620558 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
|
25607374 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
|
25848748 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
|
25047097 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
|
25848748 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.
|
25099625 |
2014 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RTEL1: functions of a disease-associated helicase.
|
24582487 |
2014 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
|
23959892 |
2013 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
|
23959892 |
2013 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
|
24009516 |
2013 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
|
23329068 |
2013 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.
|
19461895 |
2009 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|