MCID: OST002
MIFTS: 75

Osteoporosis malady

Genetic diseases (common), Bone diseases categories
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Summaries for Osteoporosis

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Sources:
8Disease Ontology, 34MedlinePlus, 65Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 Osteoporosis makes your bones weak and more likely to break. anyone can develop osteoporosis, but it is common in older women. as many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. risk factors include getting older being small and thin having a family history of osteoporosis taking certain medicines being a white or asian woman having osteopenia, which is low bone density osteoporosis is a silent disease. you might not know you have it until you break a bone. a bone mineral density test is the best way to check your bone health. to keep bones strong, eat a diet rich in calcium and vitamin d, exercise and do not smoke. if needed, medicines can also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Osteoporosis is related to idiopathic juvenile osteoporosis and arthritis. An important gene associated with Osteoporosis is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are Wnt signaling network and VEGFR3 signaling in lymphatic endothelium. The drugs medium chain triglycerides and cholecalciferol and the compounds 9(S)-HPODE and 15hpete have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Disease Ontology:8 A bone resorption disease that has material basis in a drop in estrogen or testosterone which results in the thinning of bone tissue and loss of bone mineral density.

Wikipedia:65 Osteoporosis (\"porous bones\", from Greek: ??????/ostoun meaning \"bone\" and ?????/poros meaning... more...

Description from OMIM:47 166710

Aliases & Classifications for Osteoporosis

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8Disease Ontology, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Bone diseases


Aliases & Descriptions:

osteoporosis 8 20 22 47 10 45 34 62


External Ids:

Disease Ontology8 DOID:11476
NCIt40 C3298
MeSH35 D010024
ICD9CM27 733.0, 733.00

Related Diseases for Osteoporosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Osteoporosis family:

Juvenile Primary Osteoporosis

Diseases related to Osteoporosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 428)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic juvenile osteoporosis31.2LRP5, COL1A1
2arthritis30.9VDR, ALOX12, ALOX5, ALOX15
3osteoarthritis30.8VDR, LRP5, COL1A1, COL1A2, ALOX5AP, ALOX5
4osteomalacia30.7KL, VDR
5breast cancer30.6VDR, ESR1, WNT1, CALCR, ALOX12, ALOX5AP
6prostate cancer30.6VDR, UGT2B17, PTGER4, ESR1, CALCR, ALOX12
7osteogenesis imperfecta30.5COL1A2, COL1A1, LRP5
8diabetes mellitus30.5NPPB, ALOX12, LRP5, VDR
9osteoporosis, postmenopausal30.5VDR, LRP5, ESR1, COL1A1
10atherosclerosis30.3ALOX15, ALOX5, ALOX5AP, ALOX12
11nephrolithiasis30.2SLC34A1, VDR
12otosclerosis30.2COL1A1, COL1A2
13dentinogenesis imperfecta29.9COL1A2, COL1A1
14hyperostosis29.8COL1A1, LRP5
15hypophosphatemia29.8VDR, KL, SLC34A1
16secondary syphilis29.8VDR, LRP5, PTGER4
17x-linked hypophosphatemia29.8SLC34A1, VDR
18asthma29.8VDR, PTGER4, ALOX12, ALOX5AP, ALOX5, ALOX15
19ehlers-danlos syndrome29.7COL1A2, COL1A1
20osteoporosis-pseudoglioma syndrome10.7
21rheumatoid arthritis10.5
22mastocytosis10.4
23hajdu-cheney syndrome10.4
24systemic mastocytosis10.4
25thalassemia10.4
26prostatitis10.4
27obesity10.3
28bone fracture10.3
29osteoporotic fracture10.3
30osteonecrosis10.3
31periodontitis10.3
32hyperparathyroidism10.3
33osteonecrosis of the jaw10.3
34amenorrhea10.3
35periodontal disease10.2
36primary biliary cirrhosis10.2
37inflammatory bowel disease10.2
38osteoporosis, early-onset autosomal dominant10.2
39primary hyperparathyroidism10.2
40juvenile primary osteoporosis10.2
41blindness10.2
42beta thalassemia10.2
43arthropathy10.2
44hypogonadism10.2
45spondylitis10.2
46hypophosphatemic nephrolithiasis/osteoporosis, 110.2
47col1a1/2-related osteogenesis imperfecta10.1COL1A1, COL1A2
48osteogenesis imperfecta type iii10.1COL1A1, COL1A2
49osteogenesis imperfecta, type ii10.1COL1A1, COL1A2
50osteogenesis imperfecta type i10.1COL1A2, COL1A1

Graphical network of the top 20 diseases related to Osteoporosis:



Diseases related to osteoporosis

Symptoms for Osteoporosis

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Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

166710

Clinical features from OMIM:

166710

Drugs & Therapeutics for Osteoporosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Osteoporosis

Search NIH Clinical Center for Osteoporosis

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Osteoporosis

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20GeneTests, 22GTR
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Genetic tests related to Osteoporosis:

id Genetic test Affiliating Genes
1 Osteoporosis20 22 VDR

Anatomical Context for Osteoporosis

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33MalaCards
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MalaCards organs/tissues related to Osteoporosis:

33
Bone, Testes, Skin, Breast, Prostate, Heart, Bone marrow, Liver, Endothelial, Kidney, Monocytes, Thyroid, Adipocyte, Tongue, Spinal cord, Lung, T cells, Pineal, B cells, Whole blood, Brain, Uterus, Skeletal muscle, Pituitary

Animal Models for Osteoporosis or affiliated genes

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37MGI
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Publications for Osteoporosis

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52PubMed
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Articles related to Osteoporosis:

(show top 50)    (show all 2123)
idTitleAuthorsYear
1
Sclerostin Inhibition for Osteoporosis - A New Approach. (24382003)
2014
2
Osteoporosis treatment and prevention for postmenopausal women: current and future therapeutic options. (24100598)
2013
3
Osteoporosis after stem cell transplantation. (24202854)
2013
4
The effect of short-term low-energy ultraviolet B irradiation on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis: a randomized single-blinded controlled clinical trial. (24364223)
2013
5
Osteoporosis and RANKL signal]. (21814019)
2011
6
Prevention of premature ovarian failure and osteoporosis induced by irradiation using allogeneic ovarian/bone marrow transplantation. (20177340)
2010
7
Anabolics in osteoporosis: the emerging therapeutic tool. (20205677)
2010
8
Genetic aspects of osteopenia/osteoporosis in ankylosing spondylitis]. (19938354)
2009
9
Osteoporosis management among residents living in long-term care. (19209376)
2009
10
Austrian guidance for the pharmacological treatment of osteoporosis in postmenopausal women--update 2009]. (19484202)
2009
11
Emerging treatments for postmenopausal osteoporosis - focus on denosumab. (19554095)
2009
12
Short-term menatetrenone therapy increases gamma-carboxylation of osteocalcin with a moderate increase of bone turnover in postmenopausal osteoporosis: a randomized prospective study. (19172219)
2009
13
Salmon calcitonin in prevention of osteoporosis in maintenance dialysis patients. (18713548)
2008
14
Genomic approaches to bone and joint diseases. An order made medical system for management of osteoporosis: an attempt using genetic information]. (18245894)
2008
15
Effect of risedronate on biochemical marker of bone resorption in postmenopausal women with osteoporosis or osteopenia. (18382907)
2008
16
Acute changes in serum osteoprotegerin and receptor activator for nuclear factor-kappaB ligand levels in women with established osteoporosis treated with teriparatide. (18299476)
2008
17
Effects of PTH and alendronate on type I collagen isomerization in postmenopausal women with osteoporosis: the PaTH study. (18442311)
2008
18
Male osteoporosis with vertebral fractures? Look for ankylosing spondylitis! A report of 10 cases. (17918785)
2007
19
Osteoprotegerin as a potential therapy for osteoporosis. (16515766)
2006
20
Strategies for the prevention and treatment of osteoporosis during early postmenopause. (16448872)
2006
21
The search for human osteoporosis genes. (16675885)
2006
22
Changes in serum fibroblast growth factor 2 in patients with glucocorticoid-induced osteoporosis treated with human parathyroid hormone (1-34). (16133640)
2005
23
Variations in genome-wide gene expression in identical twins - a study of primary osteoblast-like culture from female twins discordant for osteoporosis. (15176972)
2004
24
Vitamin K in combination with other biochemical markers to diagnose osteoporosis. (15849068)
2004
25
A comprehensive review of treatments for postmenopausal osteoporosis. (12577179)
2003
26
Autoimmune polyglandular syndrome type 2 and osteoporosis in a 69 years old patient]. (16737004)
2003
27
Potential use of HMG-CoA reductase inhibitors for osteoporosis. (11918519)
2002
28
Efficacy of HMG-CoA reductase inhibitors in treating osteoporosis. (11885403)
2002
29
Pros and cons of existing treatment modalities in osteoporosis: a comparison between tibolone, SERMs and estrogen (+/-progestogen) treatments. (12650712)
2002
30
Possible pathogenetic role of new cytokines in postmenopausal osteoporosis and changes during calcitonin plus calcium therapy. (12215865)
2002
31
Haptoglobin genotype as a risk factor for postmenopausal osteoporosis. (11565553)
2001
32
Statins and their potential for osteoporosis. (11728917)
2001
33
Association of polymorphisms of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis. (11740340)
2001
34
Osteoporosis: evaluation and treatment. (10984823)
2000
35
Osteoporosis in rheumatoid arthritis--significance of alfacalcidol in prevention and therapy]. (10769429)
2000
36
Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. (10999795)
2000
37
Osteoprotegerin reverses osteoporosis by inhibiting endosteal osteoclasts and prevents vascular calcification by blocking a process resembling osteoclastogenesis. (10952716)
2000
38
Collagen type I alpha1 gene Sp1 polymorphism in premenopausal women with primary osteoporosis: improved detection of Sp1 binding site polymorphism in the collagen type 1 gene. (10352003)
1999
39
The relationships between the degree of beta-isomerization of type I collagen degradation products in the urine and aging, menopause and osteoporosis with fractures. (10550459)
1999
40
Lithium carbonate therapy is not a risk factor for osteoporosis. (9808330)
1998
41
Osteoporosis after spinal cord injury. (9881730)
1998
42
Diagnosing and managing polymyalgia rheumatica and temporal arteritis. Patients starting steroids should be given advice on risk of osteoporosis. (9329330)
1997
43
Genetic factors in osteoporosis. What are the implications for prevention and treatment? (9359020)
1997
44
Prevention of corticosteroid osteoporosis. A comparison of calcium, calcitriol, and calcitonin. (7684512)
1993
45
Peak bone mass and osteoporosis prevention. (8499027)
1993
46
Prevention of osteoporosis with nasal salmon calcitonin: effect of anti-salmon calcitonin antibody formation. (8400608)
1993
47
Diagnosis and treatment of osteoporosis. (8476248)
1993
48
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (2052622)
1991
49
Formation of neutralizing antibodies during intranasal synthetic salmon calcitonin treatment of postmenopausal osteoporosis. (1790395)
1991
50
Calcitonin, estradiol, and hydroxyproline as parameters in the early diagnosis of involutional osteoporosis. The importance of the "second calcitonin phenomenon". (2383444)
1990

Variations for Osteoporosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteoporosis:

64
id Symbol AA change Variation ID SNP ID
1WNT1p.Cys218GlyVAR_069629
2WNT1p.Arg235TrpVAR_069630

Clinvar genetic disease variations for Osteoporosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.1981G> A (p.Gly661Ser)single nucleotide variantPathogenicrs72658152GRCh37Chr 7, 94047820: 94047820

Expression for genes affiliated with Osteoporosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteoporosis

Search GEO for disease gene expression data for Osteoporosis.

Pathways for genes affiliated with Osteoporosis

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 60Thomson Reuters, 53QIAGEN, 30KEGG
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Pathways related to Osteoporosis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3WNT1, LRP5
2
Show member pathways
10.3COL1A2, COL1A1
310.2ALOX5, ALOX5AP
410.2COL1A2, COL1A1, VDR
510.2CALCR, COL1A1, VDR
610.2WNT1, PTGER4, LRP5
710.2COL1A1, COL1A2, ALOX15
810.2VDR, ESR1, COL1A2
910.2VDR, ESR1, KL
10
Show member pathways
aspirin triggered resolvin E biosynthesis38
10.0ALOX15, ALOX5, ALOX5AP, ALOX12
11
Show member pathways
10.0ALOX12, ALOX5AP, ALOX5, ALOX15
12
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.9PTGER4, ESR1, COL1A1, COL1A2, ALOX12, NPPB

Compounds for genes affiliated with Osteoporosis

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24HMDB, 45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 3BitterDB, 51PharmGKB
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Compounds related to Osteoporosis according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
19(S)-HPODE2410.6ALOX5, ALOX15
215hpete4510.6ALOX15, ALOX5
3nppb29 45 6112.6NPPB, COL1A2, COL1A1
413-hpode4510.6ALOX12, ALOX5, ALOX15
515-hydroxyeicosatetraenoic acid4510.6ALOX15, ALOX5, ALOX12
6xbai4510.6VDR, ESR1, COL1A1, COL1A2
75-hydroxyeicosatetraenoic acid4510.6ALOX5AP, ALOX5
812-hydroxyeicosatetraenoic acid4510.5ALOX5, ALOX5AP, ALOX12
9esculetin4510.5ALOX12, ALOX5
10ltc44510.5ALOX5, ALOX5AP, ALOX12
1113-hydroperoxyoctadecadienoic acid4510.5ALOX12, ALOX5
12bw-b 70c6110.5ALOX12, ALOX5AP, ALOX5, ALOX15
13bay-x 10056110.5ALOX12, ALOX5AP, ALOX5, ALOX15
14mk 88661 4511.5ALOX12, ALOX5AP, ALOX5, ALOX15
15ndga4510.5ALOX12, ALOX5AP, ALOX5
16zileuton45 61 29 1113.5ALOX15, ALOX5, ALOX5AP, ALOX12
17baicalein45 6111.5ALOX12, ALOX5AP, ALOX5, ALOX15
18boswellic acids4510.5ALOX5, ALOX12
19pgd24510.5ALOX5, ALOX12, PTGER4
20thromboxane45 2411.4PTGER4, ALOX12, ALOX5AP, ALOX5
21n-(4-hydroxyphenyl)retinamide4510.4ALOX15, ALOX12, ESR1
22linoleic acid29 45 2412.4ALOX15, ALOX5, ALOX5AP, ALOX12
23etya4510.4ALOX12, ALOX5
24calcitriol45 61 24 1113.4SLC34A1, ALOX5, CALCR, VDR
25nppa4510.4COL1A1, COL1A2
261,25 dihydroxy vitamin d34510.4VDR, LRP5, COL1A1, CALCR, ALOX5AP, SLC34A1
2712-hpete4510.4ALOX12, ALOX5
28chloramphenicol45 3 51 1113.4VDR, ESR1, COL1A1, COL1A2
29prostacyclin4510.3NPPB, ALOX5, ALOX12, PTGER4
30prostaglandin4510.3ALOX5, ALOX5AP, ALOX12, PTGER4
31aspirin45 51 29 2413.3VDR, ALOX12, ALOX5AP, ALOX5, NPPB
32aspartate4510.3VDR, COL1A1, COL1A2, ALOX12, ALOX5, SLC9A3R1
33carbodiimide4510.3COL1A1, COL1A2
34genistein45 29 61 3 24 1115.3VDR, ESR1, ALOX12, ALOX5, NPPB
35indomethacin45 29 61 1113.3PTGER4, ALOX12, ALOX5AP, ALOX5, NPPB
36thymidine45 2411.3VDR, COL1A1, COL1A2, ALOX12, NPPB
37arachidonic acid45 29 24 1113.3PTGER4, ALOX12, ALOX5AP, ALOX5, ALOX15
38eugenol45 29 2412.3ALOX5, UGT2B17
39iron45 2411.2ALOX12, ALOX5AP, ALOX5, ALOX15, NPPB
40cycloheximide4510.2VDR, UGT2B17, ESR1, ALOX12, ALOX5AP, ALOX5
41apai4510.2VDR, COL1A1
42vegf4510.1PTGER4, ESR1, COL1A1, ALOX12, ALOX5, KL
43retinoic acid45 2411.1VDR, UGT2B17, ESR1, WNT1, COL1A1, ALOX12
44vitamin d4510.1VDR, LRP5, ESR1, COL1A1, COL1A2, CALCR
45pge24510.1VDR, PTGER4, COL1A1, ALOX12, ALOX5AP, ALOX5
46dexamethasone45 51 29 1113.1VDR, PTGER4, COL1A1, CALCR, ALOX12, ALOX5AP
47tyrosine4510.0PTGER4, WNT1, COL1A2, CALCR, ALOX12, KL
48procollagen459.9NPPB, COL1A2, COL1A1
49estrogen459.7SLC9A3R1, VDR, UGT2B17, LRP5, PTGER4, ESR1
50calcium45 51 24 1112.6COL1A2, COL1A1, PTGER4, LRP5, VDR, CALCR

GO Terms for genes affiliated with Osteoporosis

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16Gene Ontology
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Cellular components related to Osteoporosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.4COL1A2, COL1A1
2endoplasmic reticulum lumenGO:00578810.2COL1A2, COL1A1, WNT1
3extracellular spaceGO:0056159.9WNT1, COL1A1, COL1A2, ALOX5, KL, NPPB
4membraneGO:0160209.9UGT2B17, ESR1, ALOX12, ALOX15, SLC9A3R1
5extracellular regionGO:0055769.6THSD7A, WNT1, COL1A1, COL1A2, KL, NPPB
6plasma membraneGO:0058869.5THSD7A, LRP5, PTGER4, ESR1, WNT1, CALCR

Biological processes related to Osteoporosis according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1mammary gland branching involved in pregnancyGO:06074510.5VDR, ESR1
2leukotriene production involved in inflammatory responseGO:00254010.5ALOX5, ALOX5AP
3lipoxin A4 biosynthetic processGO:200130310.5ALOX15, ALOX12
4hepoxilin biosynthetic processGO:05112210.5ALOX15, ALOX12
5skin morphogenesisGO:04358910.5COL1A2, COL1A1
6lipoxin metabolic processGO:200130010.4ALOX12, ALOX5AP, ALOX5
7leukotriene metabolic processGO:00669110.4ALOX5AP, ALOX5, ALOX15
8protein heterotrimerizationGO:07020810.4COL1A2, COL1A1
9regulation of blood pressureGO:00821710.4LRP5, COL1A2, NPPB
10response to estradiolGO:03235510.4SLC34A1, COL1A1, ESR1
11negative regulation of cell-substrate adhesionGO:01081210.4WNT1, COL1A1
12positive regulation of sequence-specific DNA binding transcription factor activityGO:05109110.4LRP5, ESR1, WNT1
13lipoxygenase pathwayGO:01937210.4ALOX15, ALOX5, ALOX5AP, ALOX12
14arachidonic acid metabolic processGO:01936910.3ALOX15, ALOX5, ALOX5AP, ALOX12
15bone remodelingGO:04684910.3SLC34A1, LRP5
16leukotriene biosynthetic processGO:01937010.2ALOX5, ALOX5AP
17skeletal system developmentGO:00150110.1VDR, COL1A1, COL1A2
18Wnt signaling pathwayGO:0160559.9SLC9A3R1, WNT1, LRP5

Molecular functions related to Osteoporosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1arachidonate 12-lipoxygenase activityGO:00405210.2ALOX12, ALOX15
2iron ion bindingGO:00550610.2ALOX15, ALOX5, ALOX12
3platelet-derived growth factor bindingGO:04840710.0COL1A2, COL1A1
4protein bindingGO:0055159.2SLC34A1, VDR, LRP5, PTGER4, ESR1, COL1A1

Products for genes affiliated with Osteoporosis

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  • Antibodies
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Sources for Osteoporosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet