Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 CausalMutation disease CLINVAR Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. 19461895 2009
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation disease CLINVAR Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. 19461895 2009
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 CausalMutation 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 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 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 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation disease CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
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 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 Biomarker disease GENOMICS_ENGLAND Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 23591994 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 CausalMutation 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 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 Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 25099625 2014
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation 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 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 Biomarker disease GENOMICS_ENGLAND Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 CausalMutation disease CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation disease CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 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 CausalMutation disease CLINVAR Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385 2016
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation disease CLINVAR Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385 2016
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 CausalMutation disease CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015