DCLRE1B, DNA cross-link repair 1B, 64858

N. diseases: 22; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.310 Biomarker disease GENOMICS_ENGLAND Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. 20479256 2010
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.310 GeneticVariation disease BEFREE Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. 20479256 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.110 GeneticVariation disease BEFREE The results suggest that hSNM1B/Apollo is causal for the repeatedly reported association between rs11552449 and breast cancer. 30262195 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease BEFREE The results suggest that hSNM1B/Apollo is causal for the repeatedly reported association between rs11552449 and breast cancer. 30262195 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.110 GeneticVariation disease GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 Biomarker disease BEFREE Patisiran Pharmacokinetics, Pharmacodynamics, and Exposure-Response Analyses in the Phase 3 APOLLO Trial in Patients With Hereditary Transthyretin-Mediated (hATTR) Amyloidosis. 31322739 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 Biomarker disease BEFREE The effect of the RNAi therapeutic, patisiran, on autonomic neuropathy manifestations in patients with hATTR amyloidosis with polyneuropathy in the phase III APOLLO study is reported. 31728713 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 Biomarker disease BEFREE APOLLO was an international, randomized, double-blind, placebo-controlled phase 3 trial in patients with hATTR amyloidosis. 30586695 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 Biomarker disease BEFREE This exploratory analysis of APOLLO, a randomized, double-blind, placebo-controlled, phase 3, multicenter international clinical trial that was conducted from December 2013 to January 2016, included patients with hATTR amyloidosis with polyneuropathy who were randomized 2:1 to receive patisiran or placebo. 30878017 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 Biomarker disease BEFREE APOLLO represents the largest randomized, Phase 3 study to date in patients with hATTR amyloidosis, with endpoints that capture the multisystemic nature of this disease. 28893208 2017
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.040 Biomarker disease BEFREE The effect of the RNAi therapeutic, patisiran, on autonomic neuropathy manifestations in patients with hATTR amyloidosis with polyneuropathy in the phase III APOLLO study is reported. 31728713 2020
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.040 Biomarker disease BEFREE Patisiran significantly improved polyneuropathy and quality of life (QoL) in the phase III APOLLO trial. 30489166 2019
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.040 Biomarker disease BEFREE This exploratory analysis of APOLLO, a randomized, double-blind, placebo-controlled, phase 3, multicenter international clinical trial that was conducted from December 2013 to January 2016, included patients with hATTR amyloidosis with polyneuropathy who were randomized 2:1 to receive patisiran or placebo. 30878017 2019
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.040 Biomarker disease BEFREE Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. 28893208 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.030 Biomarker disease BEFREE SNM1B/Apollo is a DNA nuclease that has important functions in telomere maintenance and repair of DNA interstrand crosslinks (ICLs) within the Fanconi anemia (FA) pathway. 23863462 2013
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.030 Biomarker disease BEFREE SNM1B/Apollo is a DNA nuclease that has important functions in telomere maintenance and repair of DNA interstrand crosslinks (ICLs) within the Fanconi anemia (FA) pathway. 23863462 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.030 Biomarker disease BEFREE These findings further substantiate the role of hSNM1B/Apollo in a downstream step of the FA pathway during the repair of DNA ICLs. 22907656 2012
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.030 Biomarker disease BEFREE These findings further substantiate the role of hSNM1B/Apollo in a downstream step of the FA pathway during the repair of DNA ICLs. 22907656 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.030 Biomarker disease BEFREE Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. 21478198 2011
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.030 Biomarker disease BEFREE Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. 21478198 2011
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.020 Biomarker disease BEFREE The clinical efficacy and safety of LBN 0.024% in patients with open-angle glaucoma or ocular hypertension were established in two similarly designed, double-masked, pivotal phase 3 studies, APOLLO and LUNAR, the pooled three-month efficacy phase of which demonstrated significantly greater IOP-lowering of once-daily LBN 0.024% over twice-daily timolol 0.5% at all time points. 30614563 2019
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.020 Biomarker disease BEFREE The IOP-lowering efficacy seen in APOLLO and LUNAR was confirmed in a phase III study (JUPITER) in Japanese patients, with IOP reductions observed early (week 4) and maintained over the longer-term (12 months). 29761382 2018