HBM, hemoglobin subunit mu, 3042

N. diseases: 18; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. 28453575 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 Biomarker disease BEFREE Our findings support SMAD9 as a novel HBM gene and a potential novel osteoanabolic target for osteoporosis therapeutics. 31525280 2020
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 Biomarker disease BEFREE This study showed the effectiveness of the intervention based on the HBM constructs and social support in adoption of skin cancer preventive behaviors in 3 and 6 months post intervention in farmers. 29313300 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE Single Administration of HBK-15-a Triple 5-HT<sub>1A</sub>, 5-HT<sub>7</sub>, and 5-HT<sub>3</sub> Receptor Antagonist-Reverses Depressive-Like Behaviors in Mouse Model of Depression Induced by Corticosterone. 28550529 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 Biomarker disease BEFREE Single Administration of HBK-15-a Triple 5-HT<sub>1A</sub>, 5-HT<sub>7</sub>, and 5-HT<sub>3</sub> Receptor Antagonist-Reverses Depressive-Like Behaviors in Mouse Model of Depression Induced by Corticosterone. 28550529 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 Biomarker phenotype BEFREE Single Administration of HBK-15-a Triple 5-HT<sub>1A</sub>, 5-HT<sub>7</sub>, and 5-HT<sub>3</sub> Receptor Antagonist-Reverses Depressive-Like Behaviors in Mouse Model of Depression Induced by Corticosterone. 28550529 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE Our results indicate that HBK-14 increased seizure thresholds in three seizure tests in mice, while HBK-15 was active in the MEST and 6-Hz tests. 28729118 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE HBK-15 protects mice from stress-induced behavioral disturbances and changes in corticosterone, BDNF, and NGF levels. 28648684 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE Only HBK-15 (0.625 mg/kg) presented memory-enhancing properties and ameliorated cognitive impairments caused by scopolamine (1 mg/kg). 27888375 2017
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		0.010 Biomarker disease BEFREE As mastocytosis is thought to represent a reactive hyperplasia rather than a mast cell malignancy, the factor secreted by the HBM-M cell strain could well be responsible for the mast cell hyperplasia seen in some patients with mastocytosis. 7836459 1995
CUI: C0024901
Disease: Mastocytosis, Diffuse Cutaneous
Mastocytosis, Diffuse Cutaneous 		0.010 Biomarker disease BEFREE A human cell strain (designated HBM-M) that was derived from the bone marrow of a child with diffuse cutaneous mastocytosis was previously found to possess features that suggested it belonged in the mast cell/monocyte lineage. 1728305 1992