Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
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
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
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
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
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
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. 19461895 2009
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
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
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease CTD_human
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 Biomarker disease CTD_human
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 GeneticVariation disease CLINVAR
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease BEFREE The cause of DC is likely due to homozygous splice site variants in regulator of telomere elongation helicase 1, a known DC and telomere biology gene. 29696773 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease BEFREE Biallelic germline mutations in <i>RTEL1</i> (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. 29344583 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 Biomarker disease BEFREE RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. 28507545 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease BEFREE RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new damaging and missense variants at conserved residues in cases than in controls (P = 1.6 × 10(-6)). 25848748 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 CausalMutation disease CLINVAR A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 26025130 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 CausalMutation disease CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR RTEL1: functions of a disease-associated helicase. 24582487 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 CausalMutation disease CLINVAR RTEL1: functions of a disease-associated helicase. 24582487 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease BEFREE Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repair, cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of dyskeratosis congenita. 24130156 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 CausalMutation disease CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 CausalMutation disease CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease BEFREE Additional screening of RTEL1 identified biallelic mutations in 6/23 index cases with HHS but none in 102 DC or DC-like cases. 23453664 2013