MCID: BRC015
MIFTS: 46

Bruck Syndrome

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

Aliases & Classifications for Bruck Syndrome

MalaCards integrated aliases for Bruck Syndrome:

Name: Bruck Syndrome 12 74 58 36 29 6 15 71
Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome 58
Osteogenesis Imperfecta with Congenital Joint Contractures 12

Characteristics:

Orphanet epidemiological data:

58
bruck syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0060231
KEGG 36 H00514
ICD10 32 M21.8
ICD10 via Orphanet 33 M21.8
UMLS via Orphanet 72 C0432253 C1836602 C1850168
Orphanet 58 ORPHA2771
UMLS 71 C0432253

Summaries for Bruck Syndrome

KEGG : 36 Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita.

MalaCards based summary : Bruck Syndrome, also known as osteogenesis imperfecta-congenital joint contractures syndrome, is related to col1a1/2 osteogenesis imperfecta and scoliosis. An important gene associated with Bruck Syndrome is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include bone and bone marrow, and related phenotypes are joint stiffness and short stature

Disease Ontology : 12 A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.

Wikipedia : 74 Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and... more...

Related Diseases for Bruck Syndrome

Diseases in the Bruck Syndrome family:

Bruck Syndrome 1 Bruck Syndrome 2

Diseases related to Bruck Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 col1a1/2 osteogenesis imperfecta 30.6 COL1A2 COL1A1
2 scoliosis 30.5 PLOD2 PLOD1 FKBP10 COL1A2 COL1A1
3 osteogenesis imperfecta, type xii 30.3 SERPINF1 FKBP10
4 cleft soft palate 30.1 PLOD2 IFITM5 FKBP10
5 osteoporosis 29.5 PLOD1 P3H1 CRTAP COL1A2 COL1A1 CD36
6 osteogenesis imperfecta, type iii 27.6 SERPINH1 SERPINF1 PPIB P3H1 FKBP10 CRTAP
7 dentinogenesis imperfecta 26.8 TMEM38B SERPINH1 SERPINF1 PPIB P3H1 IFITM5
8 brittle bone disorder 26.6 TMEM38B SERPINH1 SERPINF1 PPIB PLOD2 PLOD1
9 bruck syndrome 1 12.8
10 bruck syndrome 2 12.7
11 alkuraya-kucinskas syndrome 10.5
12 congenital amyoplasia 10.5
13 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
14 arthrochalasia ehlers-danlos syndrome 10.4 COL1A2 COL1A1
15 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.4 PLOD2 PLOD1
16 congenital contractures 10.4
17 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
18 larsen-like syndrome 10.3 COL1A2 COL1A1
19 type i ehlers-danlos syndrome 10.3 COL1A2 COL1A1
20 distal arthrogryposis 10.3
21 hypermobile ehlers-danlos syndrome 10.3 PLOD1 COL1A1
22 classic ehlers-danlos syndrome 10.3 COL1A2 COL1A1
23 gliofibroma 10.3 COL1A2 COL1A1
24 clubfoot 10.3
25 ehlers-danlos syndrome, classic type, 1 10.2 COL1A2 COL1A1
26 periosteal osteogenic sarcoma 10.2 P3H1 CRTAP
27 diffuse scleroderma 10.2 COL1A2 COL1A1
28 osteogenesis imperfecta, type viii 10.2 P3H1 CRTAP
29 keloid disorder 10.2 SERPINH1 CD36
30 osteogenesis imperfecta, type xi 10.2
31 bone mineral density quantitative trait locus 8 10.2
32 bone mineral density quantitative trait locus 15 10.2
33 autosomal recessive disease 10.2
34 scleroderma, familial progressive 10.2 COL1A2 COL1A1 CD36
35 collagen disease 10.2 PLOD1 COL1A2 COL1A1
36 caffey disease 10.2 COL1A2 COL1A1 CD36
37 pelvic organ prolapse 10.1 COL1A2 COL1A1 CD36
38 fibromatosis, gingival, 1 10.1 SERPINH1 CD36
39 boomerang dysplasia 10.1 P3H1 CRTAP
40 marfan syndrome 10.0 COL1A2 COL1A1 CD36
41 x-linked alport syndrome 10.0 COL1A2 COL1A1
42 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
43 protrusio acetabuli 10.0
44 torticollis 10.0
45 velocardiofacial syndrome 10.0
46 gastroschisis 10.0
47 myopathy, proximal, and ophthalmoplegia 10.0
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
49 bone disease 10.0
50 ankylosis 10.0

Graphical network of the top 20 diseases related to Bruck Syndrome:



Diseases related to Bruck Syndrome

Symptoms & Phenotypes for Bruck Syndrome

Human phenotypes related to Bruck Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
4 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
5 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
6 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
9 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
10 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
11 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
12 pterygium 58 31 frequent (33%) Frequent (79-30%) HP:0001059
13 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
14 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926

MGI Mouse Phenotypes related to Bruck Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 CD36 COL1A1 COL1A2 FKBP10 PLOD1 PLOD3
2 growth/size/body region MP:0005378 10.06 CD36 COL1A1 COL1A2 COLGALT1 CRTAP FKBP10
3 craniofacial MP:0005382 9.95 COL1A1 COLGALT1 FKBP10 IFITM5 PLOD3 PPIB
4 mortality/aging MP:0010768 9.93 CD36 COL1A1 COL1A2 COLGALT1 FKBP10 IFITM5
5 limbs/digits/tail MP:0005371 9.86 COL1A1 COL1A2 COLGALT1 FKBP10 IFITM5 P3H1
6 digestive/alimentary MP:0005381 9.85 CD36 COL1A1 COLGALT1 PLOD3 SERPINF1 SERPINH1
7 muscle MP:0005369 9.5 CD36 COL1A1 COL1A2 P3H1 PLOD1 PLOD3
8 skeleton MP:0005390 9.44 CD36 COL1A1 COL1A2 COLGALT1 CRTAP FKBP10

Drugs & Therapeutics for Bruck Syndrome

Search Clinical Trials , NIH Clinical Center for Bruck Syndrome

Genetic Tests for Bruck Syndrome

Genetic tests related to Bruck Syndrome:

# Genetic test Affiliating Genes
1 Bruck Syndrome 29

Anatomical Context for Bruck Syndrome

MalaCards organs/tissues related to Bruck Syndrome:

40
Bone, Bone Marrow

Publications for Bruck Syndrome

Articles related to Bruck Syndrome:

(show all 48)
# Title Authors PMID Year
1
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. 61 6
23712425 2013
2
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 61 6
22949511 2013
3
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 61 6
22689593 2012
4
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 61 6
21567934 2011
5
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 61 6
20839288 2011
6
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 61 6
20696291 2010
7
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 61 6
15523624 2004
8
Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. 61 6
12881513 2003
9
Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. 61 6
9927692 1999
10
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. 61 6
9481655 1998
11
Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. 61 6
9129737 1997
12
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 6
22718341 2012
13
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 6
20362275 2010
14
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
15
SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants. 61
30721533 2019
16
Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up. 61
31001443 2019
17
Phenotypic Consequences of PLOD2 Mutations in Bruck Syndrome Inform a Collagen Lysyl Hydroxylase Crystal Structure. 61
29878519 2018
18
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. 61
29512769 2018
19
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. 61
29499418 2018
20
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. 61
29178448 2018
21
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome. 61
29177700 2018
22
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. 61
28206698 2017
23
FKBP65-dependent peptidyl-prolyl isomerase activity potentiates the lysyl hydroxylase 2-driven collagen cross-link switch. 61
28378777 2017
24
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome. 61
27541483 2016
25
Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2. 61
27298363 2016
26
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. 61
27146342 2016
27
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. 61
26138583 2016
28
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. 61
25931047 2015
29
Connective tissue alterations in Fkbp10-/- mice. 61
24777781 2014
30
COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients. 61
24767406 2014
31
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. 61
25238597 2014
32
The first case of Bruck syndrome associated with gastroschisis. 61
24577988 2013
33
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. 61
23613367 2013
34
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. 61
22085994 2012
35
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 61
22107750 2011
36
Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2. 61
19762917 2009
37
Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita. 61
19460271 2009
38
Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment. 61
19067906 2008
39
[Bruck syndrome: osteogenesis imperfecta with congenital joint contractures]. 61
18620684 2008
40
Bruck syndrome: second antenatal diagnosis. 61
17003551 2007
41
Bruck syndrome: congenital joint contractures with bone fragility. 61
16307191 2005
42
Prenatal diagnosis of Bruck syndrome. 61
16034828 2005
43
Bruck syndrome. 61
15973030 2005
44
Bruck syndrome: neonatal presentation and natural course in three patients. 61
9799301 1998
45
Osteogenesis imperfecta with joint contractures: bruck syndrome. 61
9472060 1998
46
Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance. 61
9354841 1997
47
Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). 61
8335019 1993
48
Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). 61
2766569 1989

Variations for Bruck Syndrome

ClinVar genetic disease variations for Bruck Syndrome:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD2 NM_182943.3(PLOD2):c.*148T>CSNV Uncertain significance 343642 rs886058064 3:145788356-145788356 3:146070569-146070569
2 PLOD2 NM_182943.3(PLOD2):c.*764A>GSNV Uncertain significance 343637 rs141834169 3:145787740-145787740 3:146069953-146069953
3 PLOD2 NM_182943.3(PLOD2):c.*292C>TSNV Uncertain significance 343640 rs886058063 3:145788212-145788212 3:146070425-146070425
4 PLOD2 NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)SNV Uncertain significance 343645 rs558336915 3:145791085-145791085 3:146073298-146073298
5 PLOD2 NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)SNV Uncertain significance 343652 rs764056697 3:145838931-145838931 3:146121144-146121144
6 PLOD2 NM_182943.3(PLOD2):c.-95G>ASNV Uncertain significance 343655 rs368041250 3:145878871-145878871 3:146161084-146161084
7 PLOD2 NM_000935.2(PLOD2):c.-322G>TSNV Uncertain significance 343658 rs550383313 3:145879098-145879098 3:146161311-146161311
8 PLOD2 NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg)SNV Uncertain significance 343647 rs760876151 3:145796946-145796946 3:146079159-146079159
9 PLOD2 NM_182943.3(PLOD2):c.616-13T>ASNV Uncertain significance 343648 rs149019740 3:145822142-145822142 3:146104355-146104355
10 PLOD2 NM_182943.3(PLOD2):c.471G>A (p.Val157=)SNV Uncertain significance 343650 rs761346369 3:145828103-145828103 3:146110316-146110316
11 PLOD2 NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)SNV Uncertain significance 343651 rs200569129 3:145828192-145828192 3:146110405-146110405
12 PLOD2 NM_182943.3(PLOD2):c.-170C>GSNV Uncertain significance 343656 rs527384365 3:145878946-145878946 3:146161159-146161159
13 PLOD2 NM_182943.3(PLOD2):c.*683C>TSNV Uncertain significance 343638 rs566705549 3:145787821-145787821 3:146070034-146070034
14 PLOD2 NM_182943.3(PLOD2):c.2121+14T>CSNV Uncertain significance 343644 rs376009508 3:145788815-145788815 3:146071028-146071028
15 PLOD2 NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg)SNV Uncertain significance 343646 rs148051196 3:145794588-145794588 3:146076801-146076801
16 PLOD2 NM_182943.3(PLOD2):c.-81C>TSNV Uncertain significance 343654 rs886058065 3:145878857-145878857 3:146161070-146161070
17 PLOD2 NM_000935.2(PLOD2):c.-478G>CSNV Uncertain significance 343661 rs886058067 3:145879254-145879254 3:146161467-146161467
18 PLOD2 NM_182943.3(PLOD2):c.*1211C>TSNV Uncertain significance 343633 rs886058061 3:145787293-145787293 3:146069506-146069506
19 PLOD2 NM_182943.3(PLOD2):c.*809T>CSNV Uncertain significance 343636 rs540984133 3:145787695-145787695 3:146069908-146069908
20 PLOD2 NM_182943.3(PLOD2):c.*587G>ASNV Uncertain significance 343639 rs886058062 3:145787917-145787917 3:146070130-146070130
21 PLOD2 NM_182943.3(PLOD2):c.*1157T>CSNV Uncertain significance 343634 rs569145930 3:145787347-145787347 3:146069560-146069560
22 PLOD2 NM_182943.3(PLOD2):c.533G>A (p.Arg178His)SNV Uncertain significance 343649 rs143513488 3:145824401-145824401 3:146106614-146106614
23 PLOD2 NM_182943.3(PLOD2):c.-73C>TSNV Uncertain significance 343653 rs148948195 3:145878849-145878849 3:146161062-146161062
24 PLOD2 NM_000935.2(PLOD2):c.-455C>TSNV Uncertain significance 343660 rs886058066 3:145879231-145879231 3:146161444-146161444
25 PLOD2 NM_000935.2(PLOD2):c.-212C>TSNV Likely benign 343657 rs564744346 3:145878988-145878988 3:146161201-146161201
26 PLOD2 NM_182943.3(PLOD2):c.*847C>TSNV Likely benign 343635 rs3792347 3:145787657-145787657 3:146069870-146069870
27 PLOD2 NM_182943.3(PLOD2):c.*171T>GSNV Likely benign 343641 rs13079521 3:145788333-145788333 3:146070546-146070546
28 PLOD2 NM_000935.2(PLOD2):c.-412C>TSNV Likely benign 343659 rs79723478 3:145879188-145879188 3:146161401-146161401
29 PLOD2 NM_182943.3(PLOD2):c.*37A>GSNV Benign 343643 rs6710 3:145788467-145788467 3:146070680-146070680
30 PLOD2 NM_182943.3(PLOD2):c.1500+12A>GSNV Benign 263073 rs73010484 3:145796891-145796891 3:146079104-146079104
31 PLOD2 NM_182943.3(PLOD2):c.338+4G>ASNV Benign 263074 rs4681297 3:145838895-145838895 3:146121108-146121108

Expression for Bruck Syndrome

Search GEO for disease gene expression data for Bruck Syndrome.

Pathways for Bruck Syndrome

GO Terms for Bruck Syndrome

Cellular components related to Bruck Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.98 SERPINF1 PPIB PLOD3 PLOD2 PLOD1 P3H1
2 extracellular space GO:0005615 9.95 SERPINH1 SERPINF1 PLOD3 CRTAP COL1A2 COL1A1
3 endoplasmic reticulum GO:0005783 9.7 TMEM38B SERPINH1 PPIB PLOD3 PLOD2 PLOD1
4 collagen-containing extracellular matrix GO:0062023 9.63 SERPINH1 SERPINF1 PLOD3 P3H1 COL1A2 COL1A1
5 collagen trimer GO:0005581 9.56 SERPINH1 COL1A2 COL1A1 CD36
6 rough endoplasmic reticulum membrane GO:0030867 9.37 PLOD2 PLOD1
7 collagen type I trimer GO:0005584 9.32 COL1A2 COL1A1
8 endoplasmic reticulum lumen GO:0005788 9.28 SERPINH1 PPIB PLOD3 P3H1 FKBP10 CRTAP

Biological processes related to Bruck Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.69 PPIB P3H1 CRTAP
2 bone development GO:0060348 9.63 TMEM38B PPIB P3H1
3 protein O-linked glycosylation GO:0006493 9.61 PLOD3 PLOD2 PLOD1
4 bone mineralization GO:0030282 9.58 TMEM38B IFITM5 COL1A2
5 chaperone-mediated protein folding GO:0061077 9.5 PPIB P3H1 CRTAP
6 skin morphogenesis GO:0043589 9.49 COL1A2 COL1A1
7 collagen biosynthetic process GO:0032964 9.48 SERPINH1 COL1A1
8 peptidyl-lysine hydroxylation GO:0017185 9.43 PLOD3 PLOD2 PLOD1
9 negative regulation of post-translational protein modification GO:1901874 9.37 P3H1 CRTAP
10 collagen metabolic process GO:0032963 9.35 PLOD3 PLOD2 PLOD1 P3H1 COL1A2
11 hydroxylysine biosynthetic process GO:0046947 9.33 PLOD3 PLOD2 PLOD1
12 collagen fibril organization GO:0030199 9.1 SERPINH1 PLOD3 PLOD2 PLOD1 COL1A2 COL1A1

Molecular functions related to Bruck Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.67 PLOD3 PLOD2 PLOD1 P3H1
2 dioxygenase activity GO:0051213 9.62 PLOD3 PLOD2 PLOD1 P3H1
3 collagen binding GO:0005518 9.61 SERPINH1 PPIB P3H1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.56 PLOD3 PLOD2 PLOD1 P3H1
5 platelet-derived growth factor binding GO:0048407 9.46 COL1A2 COL1A1
6 procollagen galactosyltransferase activity GO:0050211 9.4 PLOD3 COLGALT1
7 procollagen glucosyltransferase activity GO:0033823 9.33 PLOD3 PLOD2 PLOD1
8 procollagen-lysine 5-dioxygenase activity GO:0008475 9.13 PLOD3 PLOD2 PLOD1
9 L-ascorbic acid binding GO:0031418 8.92 PLOD3 PLOD2 PLOD1 P3H1

Sources for Bruck Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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