Harmonizome 3.0

Bone size QTL

Bone size QTL

Bone size quantitative trait locus 3

Bone mineral density QTL 9

Bone mineral density QTL 6

Bone mineral density variation QTL 5

Bone mineral density QTL 10

Bone mineral density QTL 11

Bone mineral density QTL 13

Bone mineral density QTL 14

Bone mineral density variation QTL 4

alkaline phosphatase, liver/bone/kidney

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

Aneurysmal bone cysts

Split-hand/foot malformation with long bone deficiency 3

bone mineral density quantiative trait locus 8

Bone mineral density variation 2

Bone mineral density variability 3

Telopeptide lysyl hydroxylase, bone-specific

Paget disease of bone 6

Paget disease of bone 4

Paget disease of bone 5

Paget disease of bone 1

proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)

The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

bone morphogenetic protein 7

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 6

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 5

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 4

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 3

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 2

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 1

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]

Split-hand/foot malformation with long bone deficiency 1

bone morphogenetic protein/retinoic acid inducible neural-specific 3

This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

bone morphogenetic protein/retinoic acid inducible neural-specific 2

Predicted to be involved in cellular response to retinoic acid; central nervous system neuron differentiation; and negative regulation of mitotic cell cycle. Predicted to act upstream of or within locomotion and nervous system development. Predicted to be located in extracellular region. Predicted to be active in cytoplasm; dendrite; and neuronal cell body. Implicated in oral squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

bone morphogenetic protein/retinoic acid inducible neural-specific 1

This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]

bone morphogenetic protein 8a

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

bone morphogenetic protein 8b

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

bone gamma-carboxyglutamate (gla) protein

This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]

bone mineral density quantiative trait locus 7

bone morphogenetic protein receptor, type IA pseudogene 1

bone morphogenetic protein receptor, type IA pseudogene 2

bone morphogenetic protein receptor, type II (serine/threonine kinase)

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

bone marrow stromal cell antigen 1

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]

bone marrow stromal cell antigen 2

Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]

bone morphogenetic protein 10

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]

bone morphogenetic protein 15

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016]

bone morphogenetic protein 6 pseudogene 1

bone morphogenetic protein receptor, type IA

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]

bone morphogenetic protein receptor, type IB

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

bone marrow associated non-coding RNA

Allergic/atopic asthma related QTL 40

Allergic/atopic asthma related QTL 45

Blood pressure QTL 49

body mass index QTL 6

body mass index QTL 5

body mass index QTL 2

body mass index QTL 3

body mass index QTL 1

Heart rate QTL 1

Creatinine clearance QTL

Blood pressure QTL 24

Blood pressure QTL 25

Blood pressure QTL 26

Blood pressure QTL 27

Blood pressure QTL 20

Blood pressure QTL 21

Blood pressure QTL 22

Blood pressure QTL 23

Blood pressure QTL 28

Blood pressure QTL 29

Body weight QTL 1

Body weight QTL 2

Body weight QTL 3

Body weight QTL 4

Body weight QTL 6

Body weight QTL 7

Body weight QTL 8

Body weight QTL 9

Cohen syndrome QTL 1

Fasting plasma glucose level QTL 4

Fasting plasma glucose level QTL 6

Fasting plasma glucose level QTL 1

Rheumatoid arthritis QTL 26

Body weight QTL 27

Body weight QTL 26

Body weight QTL 24

Body weight QTL 23

Body weight QTL 22

Body weight QTL 20

Body weight QTL 29

Body weight QTL 28

Chronic obstructive pulmonary disease QTL 14

Circulating adiponectin QTL on chromosome 5

Body mass index QTL 15

Rheumatoid arthritis QTL 06

Rheumatoid arthritis QTL 07

Rheumatoid arthritis QTL 04

Rheumatoid arthritis QTL 01

Rheumatoid arthritis QTL 01

Rheumatoid arthritis QTL 02

Rheumatoid arthritis QTL 01

Rheumatoid arthritis QTL 08

Allergic/atopic asthma related QTL 18

Allergic/atopic asthma related QTL 13

Allergic/atopic asthma related QTL 15

Allergic/atopic asthma related QTL 14

Allergic/atopic asthma related QTL 16

Body fluid distribution QTL 1

Body fluid distribution QTL 3

Body fluid distribution QTL 4

Body fluid distribution QTL 5

Serum leptin concentration QTL 3

Serum leptin concentration QTL 2

Serum leptin concentration QTL 1

High density lipoprotein cholesterol level QTL 6

high density lipoprotein cholesterol level QTL 1

Allergic/atopic asthma related QTL 38

Allergic/atopic asthma related QTL 37

Chronic obstructive pulmonary disease QTL 3

Chronic obstructive pulmonary disease QTL 2

Chronic obstructive pulmonary disease QTL 1

Chronic obstructive pulmonary disease QTL 6

Chronic obstructive pulmonary disease QTL 5

Chronic obstructive pulmonary disease QTL 4

Chronic obstructive pulmonary disease QTL 8

Osteoarthritis QTL 10

C-reactive protein QTL

Blood pressure QTL 1

Blood pressure QTL 3

Blood pressure QTL 2

Blood pressure QTL 5

Blood pressure QTL 4

Blood pressure QTL 7

Blood pressure QTL 6

Blood pressure QTL 9

Blood pressure QTL 8

Osteoarthritis QTL 29

Specific language impairment QTL, 2

Specific language impairment QTL, 3

Specific language impairment QTL, 1

Body weight QTL 56

Body weight QTL 57

Body weight QTL 54

Body weight QTL 55

Body weight QTL 52

Body weight QTL 53

Body weight QTL 58

Body weight QTL 59

Alkaline phosphatase, plasma level of, QTL 2

Allergic/atopic asthma related QTL 48

Allergic/atopic asthma related QTL 49

Rheumatoid arthritis QTL 24

Lean body mass QTL 1

menopause, natural, age at, QTL

Cholesterol level QTL 2

Tuberculin skin test reactivity QTL

Rheumatoid arthritis QTL 21

Rheumatoid arthritis QTL 20

Rheumatoid arthritis QTL 23

Rheumatoid arthritis QTL 22

Rheumatoid arthritis QTL 25

Rheumatoid arthritis QTL 27

Rheumatoid arthritis QTL 29

Rheumatoid arthritis QTL 28

Allergic/atopic asthma related QTL 42

Allergic/atopic asthma related QTL 43

Allergic/atopic asthma related QTL 47

Allergic/atopic asthma related QTL 44

Body weight QTL 15

Body weight QTL 36

Body weight QTL 37

Thyroid-stimulating hormone level QTL 1

Cohen syndrome QTL 2

Body weight QTL 88

Osteoarthritis QTL 3

Chronic obstructive pulmonary disease QTL 17

Allergic/atopic asthma related QTL 9

Allergic/atopic asthma related QTL 8

Allergic/atopic asthma related QTL 7

Allergic/atopic asthma related QTL 6

Allergic/atopic asthma related QTL 1

Allergic/atopic asthma related QTL 3

Allergic/atopic asthma related QTL 2

Rheumatoid arthritis QTL 18

Rheumatoid arthritis QTL 19

Rheumatoid arthritis QTL 10

Rheumatoid arthritis QTL 11

Rheumatoid arthritis QTL 12

Rheumatoid arthritis QTL 13

Rheumatoid arthritis QTL 14

Rheumatoid arthritis QTL 15

Rheumatoid arthritis QTL 16

Rheumatoid arthritis QTL 17

Blood pressure QTL 51

Blood pressure QTL 50

Blood pressure QTL 53

Blood pressure QTL 52

Blood pressure QTL 55

Blood pressure QTL 54

Stature QTL 23

Stature QTL 20

Body weight QTL 35

Body weight QTL 30

Body weight QTL 33

Chronic obstructive pulmonary disease QTL 7

Chronic obstructive pulmonary disease QTL 9

Allergic/Atopic asthma related QTL 29

Allergic/atopic asthma related QTL 24

Allergic/atopic asthma related QTL 25

Allergic/atopic asthma related QTL 27

Allergic/atopic asthma related QTL 20

Allergic/atopic asthma related QTL 21

Allergic/atopic asthma related QTL 22

Body weight QTL 5

Osteoarthritis QTL 26

Osteoarthritis QTL 25

Osteoarthritis QTL 27

Osteoarthritis QTL 24

Osteoarthritis QTL 22

Osteoarthritis QTL 23

Osteoarthritis QTL 20

Osteoarthritis QTL 21

Osteoarthritis QTL 28

Osteoarthritis QTL 29

Body weight QTL 25

Allergic/Atopic asthma related QTL 41

Allergic/atopic asthma related QTL 46

Stature QTL 17

Urinary albumin excretion QTL 1

Urinary albumin excretion QTL 2

Stature QTL 15

Stature QTL 13

Allergic/atopic asthma related QTL 25

Body weight QTL 69

Body weight QTL 68

Body weight QTL 63

Body weight QTL 62

Body weight QTL 61

Body weight QTL 60

Body weight QTL 67

Body weight QTL 66

Body weight QTL 65

Body weight QTL 64

Body weight QTL 11

Circulating adiponectin QTL on chromosome 14

Allergic/atopic asthma related QTL 5

Allergic/atopic asthma related QTL 54

Allergic/Atopic asthma related QTL 56

Allergic/atopic asthma related QTL 51

Allergic/atopic asthma related QTL 53

Allergic/atopic asthma related QTL 52

Allergic/atopic asthma related QTL 4

Rheumatoid arthritis QTL 09

Body fluid distribution QTL 2

Blood pressure QTL 37

Blood pressure QTL 36

Blood pressure QTL 35

Blood pressure QTL 34

Blood pressure QTL 33

Blood pressure QTL 32

Blood pressure QTL 31

Blood pressure QTL 30

Blood pressure QTL 39

Blood pressure QTL 38

Blood pressure QTL 18

Blood pressure QTL 14

Allergic/atopic asthma related QTL 11

Allergic/atopic asthma related QTL 12

Allergic/atopic asthma related QTL 17

Rheumatoid arthritis QTL 30

Rheumatoid arthritis QTL 31

Fetal hemoglobin QTL on chromosome 8

Body weight QTL 12

Body weight QTL 13

Body weight QTL 10

Body weight QTL 16

Body weight QTL 17

Body weight QTL 14

Body weight QTL 18

Body weight QTL 19

Allergic/atopic asthma related QTL 19

Allergic/atopic asthma related QTL 10

Stature QTL 16

Stature QTL 14

Stature QTL 12

Stature QTL 10

Musical aptitude QTL 1

Stature QTL 11

Stature QTL 18

Stature QTL 19

Body weight QTL 34

Body weight QTL 31

Body weight QTL 32

Allergic/atopic asthma related QTL 50

Blood pressure QTL 46

Blood pressure QTL 47

Blood pressure QTL 45

Blood pressure QTL 48

Birth weight QTL 2

Chronic obstructive pulmonary disease QTL 13

Chronic obstructive pulmonary disease QTL 12

Chronic obstructive pulmonary disease QTL 11

Chronic obstructive pulmonary disease QTL 10

Chronic obstructive pulmonary disease QTL 16

Chronic obstructive pulmonary disease QTL 15

Chronic obstructive pulmonary disease QTL 19

Chronic obstructive pulmonary disease QTL 18

Osteoarthritis QTL 7

Osteoarthritis QTL 6

Osteoarthritis QTL 5

Osteoarthritis QTL 4

Osteoarthritis QTL 2

Osteoarthritis QTL 1

Osteoarthritis QTL 9

Osteoarthritis QTL 8

Allergic/atopic asthma related QTL 39

Allergic/atopic asthma related QTL 36

Allergic/atopic asthma related QTL 35

Allergic/atopic asthma related QTL 34

Allergic/atopic asthma related QTL 33

Allergic/Atopic asthma related QTL 32

Allergic/atopic asthma related QTL 31

Allergic/atopic asthma related QTL 30

Allergic/atopic asthma related QTL 5

Vitamin B6 plasma level QTL 1

Stature QTL 24

Stature QTL 21

Menarche, age at, QTL

High density lipoprotein cholesterol level QTL 4

High density lipoprotein cholesterol level QTL 5

High density lipoprotein cholesterol level QTL on chromosome 8

Allergic/Atopic asthma related QTL 28

Allergic/atopic asthma related QTL 23

Stature QTL 22

Blood pressure QTL 19

Blood pressure QTL 15

Blood pressure QTL 17

Blood pressure QTL 16

Blood pressure QTL 11

Blood pressure QTL 10

Blood pressure QTL 13

Blood pressure QTL 12

Osteoarthritis QTL 19

Osteoarthritis QTL 18

Osteoarthritis QTL 13

Osteoarthritis QTL 12

Osteoarthritis QTL 11

Osteoarthritis QTL 17

Osteoarthritis QTL 16

Osteoarthritis QTL 15

Osteoarthritis QTL 14

Chronic obstructive pulmonary disease QTL 28

Chronic obstructive pulmonary disease QTL 29

Chronic obstructive pulmonary disease QTL 22

Chronic obstructive pulmonary disease QTL 23

Chronic obstructive pulmonary disease QTL 20

Chronic obstructive pulmonary disease QTL 21

Chronic obstructive pulmonary disease QTL 26

Chronic obstructive pulmonary disease QTL 27

Chronic obstructive pulmonary disease QTL 24

Chronic obstructive pulmonary disease QTL 25

Body weight QTL 70

Body weight QTL 71

Body weight QTL 72

Sex hormone-binding blobulin circulating level QTL 1