Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003864
Disease: Arthritis
Arthritis
0.100 GeneticVariation disease BEFREE CIA was induced in DBA/1J mice.Arthritic mice were treated with bosentan (100 mg/kg) once a day, starting from the day when arthritis was clinically detectable. 22249931 2012
CUI: C0003864
Disease: Arthritis
Arthritis
0.100 GeneticVariation disease BEFREE Localization of non-Mhc collagen-induced arthritis susceptibility loci in DBA/1j mice. 10051620 1999
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE Gene chip microarray analysis demonstrated downregulated expression of the gamma-synuclein gene in DBA/2J mice as they developed age-associated glaucoma with concomitant with retinal ganglion cell loss. 31463876 2020
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE In this study, we investigated whether the metabolic vulnerability observed during optic neuropathy in the DBA/2J (D2) model of glaucoma is due to dysfunctional mitochondria or impaired substrate delivery to axons, the latter based on our observation of significantly decreased glucose and monocarboxylate transporters in D2 optic nerve (ON), human ON, and mice subjected to acute glaucoma injury. 29760184 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE Here, the impact of the Akita mutation on glaucoma was assessed using DBA/2J (D2) mice, a widely used mouse model of ocular hypertension induced glaucoma. 25207540 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE Here we address this critical element in DBA/2J (D2) mice, an established model of chronic inherited glaucoma, using as a control the congenic substrain DBA/2J Gpnmb(+/SjJ) (D2G), which is not affected by glaucoma. 21246546 2011
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
0.100 GeneticVariation disease BEFREE The topical application of Ap<sub>4</sub>A when IOP is maximal (9-12 months) reduced IOP 30.6 ± 6.6% in the DBA/2J and 17.9 ± 4.0% in the C57BL/6J mice. 27848070 2017
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
0.100 GeneticVariation disease BEFREE These studies support the idea that age-related changes in aqueous humor outflow contribute to elevated intraocular pressure (IOP) in the DBA/2J model of pigmentary glaucoma. 30660703 2019
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
0.100 GeneticVariation disease BEFREE Although the GpnmbR150X mutation leads to increased IOP and glaucoma in DBA/2J mice, development of anterior segment and retinal defects in D2.Ppcd1 animals does not depend upon presence of the GpnmbR150X mutation. 28981549 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.050 GeneticVariation disease BEFREE As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype. 20655265 2010
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.050 GeneticVariation disease BEFREE In addition, as excessive heme could amplify ribosomal protein imbalance, prematurely lower GATA1, and impede mitosis, these data may help explain the ineffective (early termination of) erythropoiesis in Diamond Blackfan anemia and del(5q) myelodysplasia, disorders with excessive heme in colony-forming unit-erythroid/proerythroblasts, explain why these anemias are macrocytic, and show why children with GATA1 mutations have DBA-like clinical phenotypes. 30530752 2019
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.050 GeneticVariation disease BEFREE We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. 28623394 2017
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
0.040 GeneticVariation disease BEFREE These studies support the idea that age-related changes in aqueous humor outflow contribute to elevated intraocular pressure (IOP) in the DBA/2J model of pigmentary glaucoma. 30660703 2019
CUI: C0036572
Disease: Seizures
Seizures
0.040 GeneticVariation phenotype BEFREE Three mouse models were used: an absence seizure model based on the knockin of a human GABA(A) γ2(R43Q) mutation (DBA(R43Q)), the spike-wave discharge (SWD)-prone DBA/2J strain, and the seizure resistant C57Bl/6 strain. 21175610 2011
CUI: C0036572
Disease: Seizures
Seizures
0.040 GeneticVariation phenotype BEFREE F2 mice derived from a C3H x DBA cross that were homozygous for the C3H variant of the alpha7 RFLP were more sensitive to nicotine-induced seizures than were F2 mice that were homozygous for the DBA RFLP. 10942032 2000
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
0.030 GeneticVariation disease BEFREE As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype. 20655265 2010
CUI: C0002871
Disease: Anemia
Anemia
0.020 GeneticVariation disease BEFREE In addition, as excessive heme could amplify ribosomal protein imbalance, prematurely lower GATA1, and impede mitosis, these data may help explain the ineffective (early termination of) erythropoiesis in Diamond Blackfan anemia and del(5q) myelodysplasia, disorders with excessive heme in colony-forming unit-erythroid/proerythroblasts, explain why these anemias are macrocytic, and show why children with GATA1 mutations have DBA-like clinical phenotypes. 30530752 2019
CUI: C0002871
Disease: Anemia
Anemia
0.020 GeneticVariation disease BEFREE Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia. 28566565 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 GeneticVariation disease BEFREE We conclude that genetic variants unique to DBA/2J at Aath4 confer susceptibility to atherosclerosis at the aortic arch. 28837567 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 GeneticVariation disease BEFREE We conclude that genetic variants unique to DBA/2J at Aath4 confer susceptibility to atherosclerosis at the aortic arch. 28837567 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.020 GeneticVariation group BEFREE To study this, we developed a transgenic mouse model expressing CCR2 specifically in podocytes (Tg[NPHS2-Ccr2]) on a nephropathy-prone (DBA/2J) and CCR2-deficient (Ccr2<sup>-/-</sup>) background with heterozygous Ccr2<sup>+/-</sup> littermate controls.Diabetes was induced by streptozotocin. 27914709 2017
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation disease BEFREE To improve its therapeutic efficacy and overcome drug resistance in advanced melanomas, we synthesized Tris DBA-Pd hyaluronic acid nanoparticles (Tris DBA-Pd HANP) and evaluated them against in vivo xenografts of LM36R, an aggressive BRAF mutant human melanoma resistant to BRAF inhibitors. 30824801 2019
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation disease BEFREE Finally, Tris DBA palladium was orally effective against GNAQ mutant melanoma <i>in vivo</i>. 31320995 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 GeneticVariation phenotype BEFREE Ectopic expression of Arid4b promoted primary tumor growth in vivo as well as increased migration and invasion in vitro, and the phenotype was associated with polymorphisms identified between the AKR/J and DBA/2J alleles as predicted by our genetic analyses. 22693453 2012
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
0.010 GeneticVariation disease BEFREE Among 175 patients included, the majority had sickle cell disease (SCD; 52%), followed by aplastic anemia (AA; 17.7%), myelodysplastic syndrome (MDS; 8.6%), Diamond-Blackfan anemia (DBA; 4%), pure red cell aplasia (1.1%), and others (16.6%). 29663858 2018