RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.010 Biomarker disease BEFREE Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2). 31043544 2020
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 Biomarker disease BEFREE DBA/J1 mouse model of periodontitis with RA was created by local colonization of Porphyromonas gingivalis (Pg) and injection of collagen. 31737959 2020
CUI: C0427032
Disease: Ankle stiff
Ankle stiff 		0.010 Biomarker phenotype BEFREE Interestingly, NSC23766 alleviated the process of collagen-induced arthritis of DBA mice in vivo, including the reduced hind paw thickness and ankle stiffness, the reduction of arthritic scores and incidence of arthritis. 30880553 2020
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.010 Biomarker disease BEFREE There was 1 case with suspected type I CDA and 1 with suspected Diamond-Blackfan anemia. 31505487 2020
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE To identify biological pathways mediating stress-related anxiety and resilience to it, we used the chronic social defeat stress (CSDS) paradigm in male mice of two inbred strains, C57BL/6NCrl (B6) and DBA/2NCrl (D2), that differ in their susceptibility to stress. 31557158 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE To identify biological pathways mediating stress-related anxiety and resilience to it, we used the chronic social defeat stress (CSDS) paradigm in male mice of two inbred strains, C57BL/6NCrl (B6) and DBA/2NCrl (D2), that differ in their susceptibility to stress. 31557158 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 Biomarker disease BEFREE Arthritis was induced in a collagen-induced arthritis mouse model using DBA/1JJmsSlc mice and ulcerative colitis was induced by the administration of drinking water containing 3.0% (w/v) DSS. 31366877 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 GeneticVariation disease BEFREE After adjusting for confounders (age, level of ID, history of falls, comorbidities and number of non-DBI medications, Down syndrome (grip strength only) and gender (timed up and go and Barthel Index)), neither grip strength nor timed up and go were significantly associated with DBI, DBA or DBS score > 0 (p > 0.05). 31234775 2019
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.010 Biomarker group BEFREE C57BL/6J (B6) and DBA/2J (D2) inbred mouse strains are highly variable genetically and differ in a large number of behavioral traits related to striatal function, including depression, anxiety, stress response, and response to drugs of abuse. 31178692 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE There were 18 lectins (e.g., AAL, Jacalin, GSL-I and DBA) to give significantly alterations of serum glycopatterns in lung adenocarcinoma compared with control group. 31168300 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 Biomarker disease BEFREE Tris DBA Palladium deserves further evaluation as a systemic agent for uveal melanoma. 31320995 2019
CUI: C0231706
Disease: Circling gait
Circling gait 		0.010 Biomarker phenotype BEFREE DBA/1 mice responded to an acoustic stimulus with one or two cycles of circling and jumping before entering a clonic/tonic seizure. 31634345 2019
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.010 Biomarker disease BEFREE Repeated generalized seizures can produce calcified cardiac lesions in DBA/1 mice. 31063933 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 Biomarker group BEFREE Male DBA/2J mice were exposed to an unbiased conditioned place preference (CPP) procedure with various doses of caffeine (1, 3, 10, 30 mg/kg) and ethanol (1, 2 g/kg), as well as various conditioning trial durations (5, 30, 60 min). 31678181 2019
CUI: C0265700
Disease: Congenital hernia of foramen of Bochdalek
Congenital hernia of foramen of Bochdalek 		0.010 GeneticVariation disease BEFREE Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report. 31574871 2019
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		0.010 Biomarker disease BEFREE C57BL/6J (B6) and DBA/2J (D2) inbred mouse strains are highly variable genetically and differ in a large number of behavioral traits related to striatal function, including depression, anxiety, stress response, and response to drugs of abuse. 31178692 2019
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		0.010 Biomarker disease BEFREE We observe elements of this interictal behavioral syndrome in seizure-prone DBA/2J mice and in mice with a pathogenic Scn1a mutation (modeling Dravet syndrome). 31697745 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE In the present study we evaluated drug-free, context-dependent hyperactivity in DBA/2 J mice previously treated with cocaine and we explored whether this conditioned effect was related to behavioral sensitization. 30571988 2019
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.010 Biomarker disease BEFREE These results demonstrate that a clonic/tonic seizure in the DBA/1 mouse results in abrupt and simultaneous respiratory and cardiac depression. 31634345 2019
CUI: C0685889
Disease: Splenic Hypoplasia
Splenic Hypoplasia 		0.010 GeneticVariation disease BEFREE Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. 31630789 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.010 Biomarker disease BEFREE We observe elements of this interictal behavioral syndrome in seizure-prone DBA/2J mice and in mice with a pathogenic Scn1a mutation (modeling Dravet syndrome). 31697745 2019
CUI: C1536075
Disease: Sudden unexplained death in epilepsy
Sudden unexplained death in epilepsy 		0.010 GeneticVariation disease BEFREE Simultaneous cardiac and respiratory inhibition during seizure precedes death in the DBA/1 audiogenic mouse model of SUDEP. 31634345 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.010 Biomarker disease BEFREE We observe elements of this interictal behavioral syndrome in seizure-prone DBA/2J mice and in mice with a pathogenic Scn1a mutation (modeling Dravet syndrome). 31697745 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 GeneticVariation disease BEFREE After adjusting for confounders (age, level of ID, history of falls, comorbidities and number of non-DBI medications, Down syndrome (grip strength only) and gender (timed up and go and Barthel Index)), neither grip strength nor timed up and go were significantly associated with DBI, DBA or DBS score > 0 (p > 0.05). 31234775 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.010 Biomarker disease BEFREE Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. 29396846 2018