Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 25620558 2015
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 26025130 2015
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		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
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease UNIPROT A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 24009516 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 25099625 2014
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease UNIPROT Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 23591994 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease UNIPROT Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease UNIPROT Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097 2015
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 GeneticVariation disease CLINVAR Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. 27415407 2017
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097 2015
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 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
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 26025130 2015
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 25620558 2015
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 25099625 2014
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. 27415407 2017
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 Biomarker disease GENOMICS_ENGLAND Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies. 28495916 2017
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 Biomarker disease GENOMICS_ENGLAND RTEL1: functions of a disease-associated helicase. 24582487 2014
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 Biomarker disease GENOMICS_ENGLAND Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 Biomarker disease GENOMICS_ENGLAND Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013