Disease: Dyskeratosis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GermlineCausalMutation disease ORPHANET 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 Biomarker disease BEFREE FANCJ belongs to a conserved iron-sulfur (Fe S) cluster family of helicases important for genomic stability including XPD (nucleotide excision repair), DDX11 (sister chromatid cohesion), and RTEL (telomere metabolism), genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage syndrome, and dyskeratosis congenita, respectively. 23935105 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 CausalMutation disease CLINVAR 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 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: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 Biomarker disease BEFREE This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1. 24009516 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease BEFREE Targeted sequencing identified a different RTEL1 missense mutation in one additional DC proband who has bone marrow failure and short telomeres. 23329068 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.690 GeneticVariation disease CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013