MCID: BRC015
MIFTS: 45

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 76 59 37 6 15 73
Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome 59
Osteogenesis Imperfecta with Congenital Joint Contractures 12

Characteristics:

Orphanet epidemiological data:

59
bruck syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060231
ICD10 33 M21.8
Orphanet 59 ORPHA2771
UMLS via Orphanet 74 C0432253 C1836602 C1850168
ICD10 via Orphanet 34 M21.8
KEGG 37 H00514
UMLS 73 C0432253

Summaries for Bruck Syndrome

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

MalaCards based summary : Bruck Syndrome, also known as osteogenesis imperfecta-congenital joint contractures syndrome, is related to brittle bone disorder and bruck syndrome 2. 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 respiratory insufficiency and scoliosis

Wikipedia : 76 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 all 36)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 30.3 CD36 COL1A1 COL1A2 CRTAP FKBP10 IFITM5
2 bruck syndrome 2 12.6
3 bruck syndrome 1 12.5
4 ehlers-danlos/osteogenesis imperfecta syndrome 10.2 COL1A1 COL1A2
5 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.2 PLOD1 PLOD2
6 larsen-like syndrome 10.2 COL1A1 COL1A2
7 osteogenesis imperfecta, type i 10.2 CD36 COL1A1 COL1A2
8 osteogenesis imperfecta, type xi 10.2 CRTAP FKBP10
9 ehlers-danlos syndrome, classic type, 2 10.2 CD36 COL1A1
10 hypermobile ehlers-danlos syndrome 10.2 COL1A1 PLOD1
11 scleroderma, familial progressive 10.2 CD36 COL1A1 COL1A2
12 classic ehlers-danlos syndrome 10.1 COL1A1 COL1A2
13 caffey disease 10.1 CD36 COL1A1 COL1A2
14 collagen disease 10.1 COL1A1 COL1A2 PLOD1
15 ehlers-danlos syndrome 10.1 COL1A1 COL1A2 PLOD1
16 cervical incompetence 10.1 CRTAP P3H1 PLOD1
17 ehlers-danlos syndrome, classic type, 1 10.1 COL1A1 COL1A2
18 osteogenesis imperfecta, type vi 10.1 COL1A1 IFITM5 SERPINF1
19 high bone mass osteogenesis imperfecta 10.1 BMP1 COL1A1 COL1A2
20 osteogenesis imperfecta, type vii 10.1 CD36 COL1A1 COL1A2 CRTAP
21 fibromatosis, gingival, 1 10.0 CD36 SERPINH1
22 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2 CRTAP P3H1
23 otosclerosis 10.0 CD36 COL1A1 COL1A2 SERPINF1
24 osteogenesis imperfecta, type v 10.0 CD36 COL1A1 COL1A2 IFITM5
25 gastroschisis 10.0
26 alkuraya-kucinskas syndrome 10.0
27 distal arthrogryposis 10.0
28 osteoporosis, juvenile 9.9 CD36 COL1A1 WNT1
29 osteogenesis imperfecta, type ii 9.8 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
30 craniometaphyseal dysplasia, autosomal dominant 9.8 BMP1 MSX2
31 osteoporosis 9.7 CD36 COL1A1 COL1A2 PLOD1 WNT1
32 connective tissue disease 9.7 COL1A1 COL1A2 P3H1 PLOD1 PLOD2 PPIB
33 dentinogenesis imperfecta 9.6 BMP1 COL1A1 COL1A2 CRTAP FKBP10 IFITM5
34 bone development disease 9.5 COL1A1 COL1A2 CRTAP FKBP10 IFITM5 MSX2
35 osteogenesis imperfecta, type iv 9.4 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
36 osteogenesis imperfecta, type iii 8.9 BMP1 CD36 COL1A1 COL1A2 CRTAP FKBP10

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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
4 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
5 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
8 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926
9 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
10 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
11 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
12 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
13 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
14 pterygium 59 32 frequent (33%) Frequent (79-30%) HP:0001059

MGI Mouse Phenotypes related to Bruck Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 BMP1 CD36 COL1A1 COL1A2 FKBP10 MSX2
2 growth/size/body region MP:0005378 10.06 BMP1 CD36 COL1A1 COL1A2 CRTAP FKBP10
3 craniofacial MP:0005382 9.97 BMP1 COL1A1 FKBP10 IFITM5 MSX2 PPIB
4 limbs/digits/tail MP:0005371 9.96 BMP1 COL1A1 COL1A2 FKBP10 IFITM5 MSX2
5 mortality/aging MP:0010768 9.93 BMP1 CD36 COL1A1 COL1A2 FKBP10 GLE1
6 muscle MP:0005369 9.56 BMP1 CD36 COL1A1 COL1A2 MSX2 P3H1
7 skeleton MP:0005390 9.47 BMP1 CD36 COL1A1 COL1A2 CRTAP FKBP10

Drugs & Therapeutics for Bruck Syndrome

Search Clinical Trials , NIH Clinical Center for Bruck Syndrome

Genetic Tests for Bruck Syndrome

Anatomical Context for Bruck Syndrome

MalaCards organs/tissues related to Bruck Syndrome:

41
Bone, Bone Marrow

Publications for Bruck Syndrome

Articles related to Bruck Syndrome:

(show all 30)
# Title Authors Year
1
Phenotypic Consequences of PLOD2 Mutations in Bruck Syndrome Inform a Collagen Lysyl Hydroxylase Crystal Structure. ( 29878519 )
2018
2
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome. ( 29177700 )
2018
3
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome. ( 27541483 )
2016
4
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. ( 27146342 )
2016
5
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. ( 25931047 )
2015
6
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. ( 26138583 )
2015
7
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. ( 25238597 )
2014
8
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. ( 22949511 )
2013
9
The first case of Bruck syndrome associated with gastroschisis. ( 24577988 )
2013
10
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. ( 22689593 )
2012
11
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. ( 22085994 )
2012
12
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. ( 21567934 )
2011
13
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. ( 20839288 )
2011
14
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? ( 20696291 )
2010
15
Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita. ( 19460271 )
2009
16
Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2. ( 19762917 )
2009
17
Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment. ( 19067906 )
2008
18
Bruck syndrome: second antenatal diagnosis. ( 17003551 )
2007
19
Bruck syndrome: congenital joint contractures with bone fragility. ( 16307191 )
2005
20
Bruck syndrome. ( 15973030 )
2005
21
Prenatal diagnosis of Bruck syndrome. ( 16034828 )
2005
22
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. ( 15523624 )
2004
23
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. ( 9927692 )
1999
24
Bruck syndrome: neonatal presentation and natural course in three patients. ( 9799301 )
1998
25
Osteogenesis imperfecta with joint contractures: bruck syndrome. ( 9472060 )
1998
26
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. ( 9481655 )
1998
27
Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. ( 9129737 )
1997
28
Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance. ( 9354841 )
1997
29
Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). ( 8335019 )
1993
30
Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). ( 2766569 )
1989

Variations for Bruck Syndrome

ClinVar genetic disease variations for Bruck Syndrome:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD2 NM_182943.2(PLOD2): c.1500+12A> G single nucleotide variant Benign rs73010484 GRCh37 Chromosome 3, 145796891: 145796891
2 PLOD2 NM_182943.2(PLOD2): c.1500+12A> G single nucleotide variant Benign rs73010484 GRCh38 Chromosome 3, 146079104: 146079104
3 PLOD2 NM_182943.2(PLOD2): c.338+4G> A single nucleotide variant Benign rs4681297 GRCh37 Chromosome 3, 145838895: 145838895
4 PLOD2 NM_182943.2(PLOD2): c.338+4G> A single nucleotide variant Benign rs4681297 GRCh38 Chromosome 3, 146121108: 146121108
5 PLOD2 NM_000935.2(PLOD2): c.*764A> G single nucleotide variant Uncertain significance rs141834169 GRCh38 Chromosome 3, 146069953: 146069953
6 PLOD2 NM_000935.2(PLOD2): c.*764A> G single nucleotide variant Uncertain significance rs141834169 GRCh37 Chromosome 3, 145787740: 145787740
7 PLOD2 NM_000935.2(PLOD2): c.*292C> T single nucleotide variant Uncertain significance rs886058063 GRCh38 Chromosome 3, 146070425: 146070425
8 PLOD2 NM_000935.2(PLOD2): c.*292C> T single nucleotide variant Uncertain significance rs886058063 GRCh37 Chromosome 3, 145788212: 145788212
9 PLOD2 NM_000935.2(PLOD2): c.*148T> C single nucleotide variant Uncertain significance rs886058064 GRCh38 Chromosome 3, 146070569: 146070569
10 PLOD2 NM_000935.2(PLOD2): c.*148T> C single nucleotide variant Uncertain significance rs886058064 GRCh37 Chromosome 3, 145788356: 145788356
11 PLOD2 NM_000935.2(PLOD2): c.*37A> G single nucleotide variant Benign rs6710 GRCh38 Chromosome 3, 146070680: 146070680
12 PLOD2 NM_000935.2(PLOD2): c.*37A> G single nucleotide variant Benign rs6710 GRCh37 Chromosome 3, 145788467: 145788467
13 PLOD2 NM_000935.2(PLOD2): c.1669A> G (p.Ile557Val) single nucleotide variant Uncertain significance rs558336915 GRCh38 Chromosome 3, 146073298: 146073298
14 PLOD2 NM_000935.2(PLOD2): c.1669A> G (p.Ile557Val) single nucleotide variant Uncertain significance rs558336915 GRCh37 Chromosome 3, 145791085: 145791085
15 PLOD2 NM_000935.2(PLOD2): c.306T> A (p.Asp102Glu) single nucleotide variant Uncertain significance rs764056697 GRCh38 Chromosome 3, 146121144: 146121144
16 PLOD2 NM_000935.2(PLOD2): c.306T> A (p.Asp102Glu) single nucleotide variant Uncertain significance rs764056697 GRCh37 Chromosome 3, 145838931: 145838931
17 PLOD2 NM_000935.2(PLOD2): c.-95G> A single nucleotide variant Uncertain significance rs368041250 GRCh38 Chromosome 3, 146161084: 146161084
18 PLOD2 NM_000935.2(PLOD2): c.-95G> A single nucleotide variant Uncertain significance rs368041250 GRCh37 Chromosome 3, 145878871: 145878871
19 PLOD2 NM_000935.2(PLOD2): c.-322G> T single nucleotide variant Uncertain significance rs550383313 GRCh38 Chromosome 3, 146161311: 146161311
20 PLOD2 NM_000935.2(PLOD2): c.-322G> T single nucleotide variant Uncertain significance rs550383313 GRCh37 Chromosome 3, 145879098: 145879098
21 PLOD2 NM_000935.2(PLOD2): c.-412C> T single nucleotide variant Likely benign rs79723478 GRCh38 Chromosome 3, 146161401: 146161401
22 PLOD2 NM_000935.2(PLOD2): c.-412C> T single nucleotide variant Likely benign rs79723478 GRCh37 Chromosome 3, 145879188: 145879188
23 PLOD2 NM_000935.2(PLOD2): c.*1157T> C single nucleotide variant Uncertain significance rs569145930 GRCh38 Chromosome 3, 146069560: 146069560
24 PLOD2 NM_000935.2(PLOD2): c.*1157T> C single nucleotide variant Uncertain significance rs569145930 GRCh37 Chromosome 3, 145787347: 145787347
25 PLOD2 NM_000935.2(PLOD2): c.*847C> T single nucleotide variant Likely benign rs3792347 GRCh38 Chromosome 3, 146069870: 146069870
26 PLOD2 NM_000935.2(PLOD2): c.*847C> T single nucleotide variant Likely benign rs3792347 GRCh37 Chromosome 3, 145787657: 145787657
27 PLOD2 NM_000935.2(PLOD2): c.1457A> G (p.Lys486Arg) single nucleotide variant Uncertain significance rs760876151 GRCh38 Chromosome 3, 146079159: 146079159
28 PLOD2 NM_000935.2(PLOD2): c.1457A> G (p.Lys486Arg) single nucleotide variant Uncertain significance rs760876151 GRCh37 Chromosome 3, 145796946: 145796946
29 PLOD2 NM_000935.2(PLOD2): c.616-13T> A single nucleotide variant Uncertain significance rs149019740 GRCh38 Chromosome 3, 146104355: 146104355
30 PLOD2 NM_000935.2(PLOD2): c.616-13T> A single nucleotide variant Uncertain significance rs149019740 GRCh37 Chromosome 3, 145822142: 145822142
31 PLOD2 NM_000935.2(PLOD2): c.471G> A (p.Val157=) single nucleotide variant Uncertain significance rs761346369 GRCh38 Chromosome 3, 146110316: 146110316
32 PLOD2 NM_000935.2(PLOD2): c.471G> A (p.Val157=) single nucleotide variant Uncertain significance rs761346369 GRCh37 Chromosome 3, 145828103: 145828103
33 PLOD2 NM_000935.2(PLOD2): c.382A> G (p.Lys128Glu) single nucleotide variant Uncertain significance rs200569129 GRCh38 Chromosome 3, 146110405: 146110405
34 PLOD2 NM_000935.2(PLOD2): c.382A> G (p.Lys128Glu) single nucleotide variant Uncertain significance rs200569129 GRCh37 Chromosome 3, 145828192: 145828192
35 PLOD2 NM_000935.2(PLOD2): c.-170C> G single nucleotide variant Uncertain significance rs527384365 GRCh38 Chromosome 3, 146161159: 146161159
36 PLOD2 NM_000935.2(PLOD2): c.-170C> G single nucleotide variant Uncertain significance rs527384365 GRCh37 Chromosome 3, 145878946: 145878946
37 PLOD2 NM_000935.2(PLOD2): c.*683C> T single nucleotide variant Uncertain significance rs566705549 GRCh38 Chromosome 3, 146070034: 146070034
38 PLOD2 NM_000935.2(PLOD2): c.*683C> T single nucleotide variant Uncertain significance rs566705549 GRCh37 Chromosome 3, 145787821: 145787821
39 PLOD2 NM_000935.2(PLOD2): c.2058+14T> C single nucleotide variant Uncertain significance rs376009508 GRCh38 Chromosome 3, 146071028: 146071028
40 PLOD2 NM_000935.2(PLOD2): c.2058+14T> C single nucleotide variant Uncertain significance rs376009508 GRCh37 Chromosome 3, 145788815: 145788815
41 PLOD2 NM_000935.2(PLOD2): c.1595A> G (p.Gln532Arg) single nucleotide variant Uncertain significance rs148051196 GRCh38 Chromosome 3, 146076801: 146076801
42 PLOD2 NM_000935.2(PLOD2): c.1595A> G (p.Gln532Arg) single nucleotide variant Uncertain significance rs148051196 GRCh37 Chromosome 3, 145794588: 145794588
43 PLOD2 NM_000935.2(PLOD2): c.-81C> T single nucleotide variant Uncertain significance rs886058065 GRCh38 Chromosome 3, 146161070: 146161070
44 PLOD2 NM_000935.2(PLOD2): c.-81C> T single nucleotide variant Uncertain significance rs886058065 GRCh37 Chromosome 3, 145878857: 145878857
45 PLOD2 NM_000935.2(PLOD2): c.-478G> C single nucleotide variant Uncertain significance rs886058067 GRCh37 Chromosome 3, 145879254: 145879254
46 PLOD2 NM_000935.2(PLOD2): c.-478G> C single nucleotide variant Uncertain significance rs886058067 GRCh38 Chromosome 3, 146161467: 146161467
47 PLOD2 NM_000935.2(PLOD2): c.*1211C> T single nucleotide variant Uncertain significance rs886058061 GRCh38 Chromosome 3, 146069506: 146069506
48 PLOD2 NM_000935.2(PLOD2): c.*1211C> T single nucleotide variant Uncertain significance rs886058061 GRCh37 Chromosome 3, 145787293: 145787293
49 PLOD2 NM_000935.2(PLOD2): c.*809T> C single nucleotide variant Uncertain significance rs540984133 GRCh38 Chromosome 3, 146069908: 146069908
50 PLOD2 NM_000935.2(PLOD2): c.*809T> C single nucleotide variant Uncertain significance rs540984133 GRCh37 Chromosome 3, 145787695: 145787695

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 space GO:0005615 9.91 BMP1 CD36 COL1A1 COL1A2 CRTAP GLE1
2 collagen-containing extracellular matrix GO:0062023 9.71 COL1A1 COL1A2 SERPINF1 SERPINH1
3 endoplasmic reticulum GO:0005783 9.65 COL1A1 COL1A2 CRTAP FKBP10 HLA-C P3H1
4 collagen trimer GO:0005581 9.54 COL1A1 COL1A2 SERPINH1
5 rough endoplasmic reticulum membrane GO:0030867 9.32 PLOD1 PLOD2
6 endoplasmic reticulum lumen GO:0005788 9.23 COL1A1 COL1A2 CRTAP FKBP10 P3H1 PPIB
7 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2
8 extracellular exosome GO:0070062 10.03 COL1A2 HLA-C P3H1 PLOD1 PLOD2 PPIB

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.71 BMP1 COL1A1 COL1A2
2 ossification GO:0001503 9.67 BMP1 COL1A1 MSX2
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.55 CD36 HLA-C
4 bone development GO:0060348 9.54 P3H1 PPIB WNT1
5 negative regulation of cell-substrate adhesion GO:0010812 9.52 COL1A1 WNT1
6 protein heterotrimerization GO:0070208 9.51 COL1A1 COL1A2
7 collagen biosynthetic process GO:0032964 9.48 COL1A1 SERPINH1
8 skin morphogenesis GO:0043589 9.46 COL1A1 COL1A2
9 bone trabecula formation GO:0060346 9.43 COL1A1 MSX2
10 chaperone-mediated protein folding GO:0061077 9.43 CRTAP P3H1 PPIB
11 peptidyl-lysine hydroxylation GO:0017185 9.4 PLOD1 PLOD2
12 hydroxylysine biosynthetic process GO:0046947 9.32 PLOD1 PLOD2
13 negative regulation of post-translational protein modification GO:1901874 9.16 CRTAP P3H1
14 collagen metabolic process GO:0032963 9.13 P3H1 PLOD1 PLOD2
15 collagen fibril organization GO:0030199 9.02 COL1A1 COL1A2 PLOD1 PLOD2 SERPINH1

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 9.61 P3H1 PLOD1 PLOD2
2 dioxygenase activity GO:0051213 9.54 P3H1 PLOD1 PLOD2
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.5 P3H1 PLOD1 PLOD2
4 collagen binding GO:0005518 9.43 P3H1 PPIB SERPINH1
5 platelet-derived growth factor binding GO:0048407 9.4 COL1A1 COL1A2
6 procollagen glucosyltransferase activity GO:0033823 9.16 PLOD1 PLOD2
7 procollagen-lysine 5-dioxygenase activity GO:0008475 8.96 PLOD1 PLOD2
8 L-ascorbic acid binding GO:0031418 8.8 P3H1 PLOD1 PLOD2

Sources for Bruck Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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