Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205702
rs786205702
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205702
rs786205702
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs373740199
rs373740199
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 28930861 2017
dbSNP: rs373740199
rs373740199
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038 2017
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038 2017
dbSNP: rs370343781
rs370343781
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
dbSNP: rs370343781
rs370343781
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. 26808564 2016
dbSNP: rs373740199
rs373740199
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385 2016
dbSNP: rs201540674
rs201540674
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 26025130 2015
dbSNP: rs201540674
rs201540674
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 25620558 2015
dbSNP: rs201540674
rs201540674
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097 2015
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
dbSNP: rs201540674
rs201540674
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 25099625 2014
dbSNP: rs201540674
rs201540674
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 24009516 2013
dbSNP: rs201540674
rs201540674
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
dbSNP: rs370343781
rs370343781
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
dbSNP: rs370343781
rs370343781
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
dbSNP: rs373740199
rs373740199
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
dbSNP: rs370343781
rs370343781
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. 19461895 2009
dbSNP: rs1177091623
rs1177091623
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 GeneticVariation UNIPROT
dbSNP: rs1449687529
rs1449687529
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs146221660
rs146221660
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555811762
rs1555811762
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR