BMND17
MCID: BNM031
MIFTS: 17

Bone Mineral Density Quantitative Trait Locus 17 (BMND17)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 17

MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 17:

Name: Bone Mineral Density Quantitative Trait Locus 17 57 6 40
Bone Mineral Density, Low, Susceptibility to 57
Bone Mineral Density, Low 57
Bmnd17 57

Classifications:



External Ids:

OMIM 57 615311

Summaries for Bone Mineral Density Quantitative Trait Locus 17

MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 17, also known as bone mineral density, low, susceptibility to, is related to bone mineral density quantitative trait locus 3 and hyperparathyroidism. An important gene associated with Bone Mineral Density Quantitative Trait Locus 17 is LGR4 (Leucine Rich Repeat Containing G Protein-Coupled Receptor 4). Affiliated tissues include bone, liver and bone marrow.

More information from OMIM: 615311

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 17

Clinical features from OMIM:

615311

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 17

Search Clinical Trials , NIH Clinical Center for Bone Mineral Density Quantitative Trait Locus 17

Genetic Tests for Bone Mineral Density Quantitative Trait Locus 17

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 17

MalaCards organs/tissues related to Bone Mineral Density Quantitative Trait Locus 17:

41
Bone, Liver, Bone Marrow

Publications for Bone Mineral Density Quantitative Trait Locus 17

Articles related to Bone Mineral Density Quantitative Trait Locus 17:

(show all 18)
# Title Authors PMID Year
1
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. 8 71
23644456 2013
2
Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes. 38
30887870 2019
3
A Comparative Analysis of the Metabolic and Coagulative Profiles in Patients with Idiopathic Scoliosis, Congenital Scoliosis and Healthy Controls: A Case-Control Study. 38
30322254 2018
4
Prevalence of Indicators of Low Energy Availability in Elite Female Sprinters. 38
29757049 2018
5
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. 38
29496979 2018
6
Total 25-hydroxyvitamin D levels predict fracture risk: results from the 15-year follow-up of the Japanese Population-based Osteoporosis (JPOS) Cohort Study. 38
28243705 2017
7
A serum metabolomics-based profile in low bone mineral density postmenopausal women. 38
27989648 2017
8
Heavy Cannabis Use Is Associated With Low Bone Mineral Density and an Increased Risk of Fractures. 38
27593602 2017
9
The effect of 8 or 5 years of denosumab treatment in postmenopausal women with osteoporosis: results from the FREEDOM Extension study. 38
26202488 2015
10
Clinical efficacy and treatment persistence of monthly minodronate for osteoporotic patients unsatisfied with, and shifted from, daily or weekly bisphosphonates: the BP-MUSASHI study. 38
24899103 2014
11
The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone. 38
25333629 2014
12
Health-related predictors of falls and fractures in women over 40. 38
22543577 2013
13
Bone mineral density in glycogen storage disease type Ia and Ib. 38
22481133 2013
14
Effects of calcium and resistance exercise on body composition in overweight premenopausal women. 38
21677124 2010
15
Approach to the growth hormone-deficient child during transition to adulthood. 38
17409338 2007
16
Detection of vascular disease risk in women by panoramic radiography. 38
14514767 2003
17
Low bone mineral density in noncholestatic liver cirrhosis: prevalence, severity and prediction. 38
15029390 2003
18
Proton magnetic relaxation in bone marrow related to age and bone mineral density: low-resolution in vitro studies. 38
11672634 2001

Variations for Bone Mineral Density Quantitative Trait Locus 17

ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 17:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LGR4 NM_018490.4(LGR4): c.376C> T (p.Arg126Ter) single nucleotide variant association rs587777005 11:27412666-27412666 11:27391119-27391119

Expression for Bone Mineral Density Quantitative Trait Locus 17

Search GEO for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 17.

Pathways for Bone Mineral Density Quantitative Trait Locus 17

GO Terms for Bone Mineral Density Quantitative Trait Locus 17

Sources for Bone Mineral Density Quantitative Trait Locus 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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