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 Biomarker disease CTD_human
Entrez Id: 9939
Gene Symbol: RBM8A
RBM8A 		0.300 Biomarker disease GENOMICS_ENGLAND Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. 17236129 2007
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 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 CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.700 Biomarker disease GENOMICS_ENGLAND Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 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 CausalMutation disease CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation 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 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 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 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 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 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
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