Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease GENOMICS_ENGLAND A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. 29146883 2018
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 28930861 2017
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease GENOMICS_ENGLAND Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies. 28495916 2017
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038 2017
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease CLINVAR Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. 27415407 2017
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385 2016
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		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
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease CLINVAR TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 25620558 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease CLINVAR A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 26025130 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 26025130 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 25620558 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097 2015
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 25099625 2014
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease GENOMICS_ENGLAND RTEL1: functions of a disease-associated helicase. 24582487 2014
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease CLINVAR Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 25099625 2014
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		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 GeneticVariation disease CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation 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 GeneticVariation 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: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease GENOMICS_ENGLAND 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 Biomarker disease GENOMICS_ENGLAND Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013