|
2
|
FOSL2
|
Osteoclast differentiation
|
NA
|
NA
|
Abnormal osteoblast and osteoclast morphology and physiology; abnormal bone morphology; decreased bone mineralization; etc.
|
Bozec (Nature 2008)
|
|
3
|
FOXP1
|
Osteoclast differentiation and development
|
NA
|
NA
|
Abnormal osteoclastogenesis and bone resorption
|
Zhao (Dev Biol 2015)
|
|
4
|
COL8A1
| | |
Downregulated in aged osteoblasts
|
Slightly elevated bone mineral content
|
Zhang (Biochem Biophys Res Comm 2018)
|
|
5
|
WWTR1 (TAZ)
|
Osteoclast differentiation, mesenchymal cell differentiation
|
NA
|
NA
|
Abnormal skeleton morphology and bone ossification; decreased body size
|
Hong (Science 2005)
|
|
8
|
IL17A [P]
|
Positive regulation of osteoclast development
|
NA
|
NA
|
NA
|
Kotake (Clin Invest 1999)
|
|
9
|
TBXAS1
|
NA
|
Ghosal heamtodiaphyseal dysplasia (231095)
|
Increased bone density
|
NA
|
Genevieve (Nat Genet 2008)
|
|
15
|
BLNK
|
Osteoclast differentiation
|
NA
|
NA
|
NA
|
Shinohara (Cell 2008)
|
|
18
|
SLC9A3R1 (NHERF)
|
Wnt signaling pathway
|
Hypophosphatemic nephrolithiasis/osteoporosis-2 (612287)
|
Low bone mineral density
|
Decreased bone mineral content and density
|
Karim (NEJM 2008)
|
|
19
|
GRB2 [P]
|
Osteoclast differentiation
|
NA
|
NA
|
Abnormal mandible morphology
|
Levy-Apter (J Biol Chem 2014)
|
|
21
|
TGFB1
|
Osteoclast differentiation
|
Camurati-Engelmann disease (131300)
|
Cortical thickening of the diaphyses of the long bones; some patients also show involvement of the skull; increased bone mineral density; osteopenia
|
Abnormal bone ossification; decreased osteoblast cell number; etc.
|
Kinoshita (Nat Genet 2000); Gao (Proc Natl Acad Sci 2004)
|
|
22–23
|
NRIP1
|
NA
|
NA
|
Differentially expressed in low and high BMD samples; may interact with ESR1
|
NA
|
Morón (Bone 2006); Li (Bone Joint Res 2016)
|
|
24
|
CITED1
|
Negative regulation of osteoblast differentiation
|
NA
|
NA
|
NA
|
Yang (Endocrinology 2008)
|
|
25–26
|
ATP7A
|
NA
|
Menkes disease (309400), Occipital horn syndrome (304150)
|
Defective collagen cross-linking resulting in osteoporosis and pathological fracture
|
Abnormal skeleton morphology; osteoarthritis
|
Kim (Stem Cell Res Ther 2015)
|
|
S2
|
HDAC4
|
Osteoblast differentiation and development
|
NA
|
NA
|
Abnormal bone ossification; abnormal osteoblast cell number; skeletal phenotype; etc.
|
Vega (Cell 2004)
|
| |
TWIST2
|
Negative regulation of osteoblast differentiation
|
Ablepharon-macrostomia syndrome (200110); Barber-Say syndrome (209885)
|
Premature osteoblast differentiation, growth retardation
|
Abnormal osteoblast differentiation
|
Bialek (Dev Cell 2004)
|
|
S3
|
TET2 [P]
|
NA
|
Myelodysplastic syndrome, somatic (614286)
|
NA
|
Osteopetrosis, reduced osteoclast number
|
Chu (Genomics, Proteomics & Bioinf. 2018); Yang (Nat Comm 2018)
|
|
S6
|
TEAD4
|
Skeletal system development
|
NA
|
NA
|
NA
|
Matsumoto (J Clin Invest 2016);
|
| |
TULP3 [P]
|
Bone development
|
NA
|
NA
|
Abnormal vertebrae morphology and development
|
Patterson (HMG 2009)
|
|
S7
|
PRKD1
|
Positive regulation of osteoclast development
|
NA
|
NA
|
Reduced bone mineral density; decreased trabecular thickness
|
Bollag (Mol Cell Endocrinol 2018)
|
|
S9
|
GNA11
|
Skeletal system development
|
Hypocalcemia (615361); hypocalciuric hypercalcemia (145981)
|
Altered calcium levels; short stature
|
Decreased bone mineral content and density
|
Nesbit (NEJM 2013)
|
|
S9
|
AES (TLE5)
|
Skeletal system development
|
NA
|
NA
|
NA
|
Zhao (BBRC 2017)
|
|
S11
|
SOX11
|
Positive regulation of osteoblast differentiation
|
Coffin-Siris syndrome 9 (615866)
|
Abnormal skeletal morphology
|
Abnormal bone mineralization and ossification; abnormal lumbar vertebrae morphology
|
Tsurusaki (Nat Commun 2014)
|
|
S12
|
SLIT3
|
NA
|
NA
|
Higher circulating levels associated with higher bone mass in postmenopausal women
|
Low bone mass
|
Kim (J Clin Invest 2018)
|
|
S13
|
SMC3
|
NA
|
Cornelia de Lange syndrome 3 (610759)
|
Growth retardation
|
Decreased bone mineral content
|
Andrade (Horm Res Paediatr 2017)
|
