Gene: RTEL1-TNFRSF6B ×
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 CausalMutation 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 CausalMutation disease CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372 2014
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 GeneticVariation disease CLINVAR RTEL1: functions of a disease-associated helicase. 24582487 2014
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 CausalMutation disease CLINVAR RTEL1: functions of a disease-associated helicase. 24582487 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 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 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		0.100 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: 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 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 GeneticVariation disease CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013