MCID: BRC015
MIFTS: 44

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 77 60 38 30 6 15 74
Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome 60
Osteogenesis Imperfecta with Congenital Joint Contractures 12

Characteristics:

Orphanet epidemiological data:

60
bruck syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060231
KEGG 38 H00514
ICD10 34 M21.8
ICD10 via Orphanet 35 M21.8
UMLS via Orphanet 75 C0432253 C1836602 C1850168
Orphanet 60 ORPHA2771
UMLS 74 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 ECM-receptor interaction. Affiliated tissues include bone and bone marrow, and related phenotypes are joint stiffness and short stature

Wikipedia : 77 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 35)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 29.5 CD36 COL1A1 COL1A2 FKBP10 P3H1
2 bruck syndrome 2 12.6
3 bruck syndrome 1 12.6
4 col1a1/2-related osteogenesis imperfecta 10.4
5 ehlers-danlos/osteogenesis imperfecta syndrome 10.1 COL1A1 COL1A2
6 high bone mass osteogenesis imperfecta 10.1 COL1A1 COL1A2
7 gastroschisis 10.0
8 alkuraya-kucinskas syndrome 10.0
9 distal arthrogryposis 10.0
10 larsen-like syndrome 10.0 COL1A1 COL1A2
11 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.0 PLOD1 PLOD2
12 classic ehlers-danlos syndrome 10.0 COL1A1 COL1A2
13 hypermobile ehlers-danlos syndrome 10.0 COL1A1 PLOD1
14 ehlers-danlos syndrome, classic type, 1 9.9 COL1A1 COL1A2
15 cervical incompetence 9.9 P3H1 PLOD1
16 ehlers-danlos syndrome, classic type, 2 9.8 CD36 COL1A1
17 otosclerosis 9.8 COL1A1 COL1A2
18 osteogenesis imperfecta, type viii 9.8 COL1A1 COL1A2 P3H1
19 spondyloepiphyseal dysplasia congenita 9.7 COL1A1 COL1A2
20 osteoporosis, juvenile 9.7 CD36 COL1A1
21 collagen disease 9.7 COL1A1 COL1A2 PLOD1
22 ehlers-danlos syndrome 9.7 COL1A1 COL1A2 PLOD1
23 osteogenesis imperfecta, type i 9.6 CD36 COL1A1 COL1A2
24 osteogenesis imperfecta, type vii 9.6 CD36 COL1A1 COL1A2
25 scoliosis 9.6 COL1A1 COL1A2 PLOD1
26 osteogenesis imperfecta, type v 9.6 CD36 COL1A1 COL1A2
27 scleroderma, familial progressive 9.6 CD36 COL1A1 COL1A2
28 caffey disease 9.6 CD36 COL1A1 COL1A2
29 dentinogenesis imperfecta 9.6 COL1A1 COL1A2 FKBP10 P3H1
30 bone development disease 9.5 COL1A1 COL1A2 FKBP10 P3H1
31 osteoporosis 9.4 CD36 COL1A1 COL1A2
32 osteogenesis imperfecta, type iv 9.4 CD36 COL1A1 COL1A2 FKBP10
33 osteogenesis imperfecta, type ii 9.3 CD36 COL1A1 COL1A2 P3H1
34 connective tissue disease 9.2 COL1A1 COL1A2 P3H1 PLOD1 PLOD2
35 osteogenesis imperfecta, type iii 8.9 CD36 COL1A1 COL1A2 FKBP10 P3H1 PLOD2

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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
4 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
5 arthrogryposis multiplex congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0002804
6 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
7 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
8 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
9 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
10 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
11 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
12 pterygium 60 33 frequent (33%) Frequent (79-30%) HP:0001059
13 bowing of the long bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0006487
14 platyspondyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000926

MGI Mouse Phenotypes related to Bruck Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CD36 COL1A1 COL1A2 FKBP10 PLOD1
2 adipose tissue MP:0005375 9.5 CD36 COL1A1 P3H1
3 limbs/digits/tail MP:0005371 9.46 COL1A1 COL1A2 FKBP10 P3H1
4 muscle MP:0005369 9.35 CD36 COL1A1 COL1A2 P3H1 PLOD1
5 skeleton MP:0005390 9.1 CD36 COL1A1 COL1A2 FKBP10 P3H1 PLOD1

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 30

Anatomical Context for Bruck Syndrome

MalaCards organs/tissues related to Bruck Syndrome:

42
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 GRCh38 Chromosome 3, 146161467: 146161467
46 PLOD2 NM_000935.2(PLOD2): c.-478G> C single nucleotide variant Uncertain significance rs886058067 GRCh37 Chromosome 3, 145879254: 145879254
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

Pathways related to Bruck Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 COL1A1 COL1A2 P3H1 PLOD1 PLOD2
2
Show member pathways
11.67 CD36 COL1A1 COL1A2
3
Show member pathways
11.67 COL1A1 COL1A2 P3H1 PLOD1 PLOD2
4 11.54 COL1A1 COL1A2
5 11.51 COL1A1 COL1A2
6
Show member pathways
11.45 CD36 COL1A1 COL1A2
7 11.31 COL1A1 COL1A2
8 11.28 COL1A1 COL1A2
9 11.25 PLOD1 PLOD2
10 11.06 COL1A1 COL1A2
11 11.04 CD36 COL1A1 COL1A2
12 11.02 COL1A1 COL1A2
13 10.92 COL1A1 COL1A2
14 10.73 COL1A1 COL1A2

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 endoplasmic reticulum lumen GO:0005788 9.46 COL1A1 COL1A2 FKBP10 P3H1
2 endoplasmic reticulum GO:0005783 9.43 COL1A1 COL1A2 FKBP10 P3H1 PLOD1 PLOD2
3 collagen trimer GO:0005581 9.32 COL1A1 COL1A2
4 rough endoplasmic reticulum membrane GO:0030867 9.26 PLOD1 PLOD2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.58 CD36 COL1A1 COL1A2
2 cellular response to amino acid stimulus GO:0071230 9.48 COL1A1 COL1A2
3 blood vessel development GO:0001568 9.46 COL1A1 COL1A2
4 protein O-linked glycosylation GO:0006493 9.43 PLOD1 PLOD2
5 protein heterotrimerization GO:0070208 9.37 COL1A1 COL1A2
6 skin morphogenesis GO:0043589 9.32 COL1A1 COL1A2
7 peptidyl-lysine hydroxylation GO:0017185 9.26 PLOD1 PLOD2
8 hydroxylysine biosynthetic process GO:0046947 9.16 PLOD1 PLOD2
9 collagen metabolic process GO:0032963 9.13 P3H1 PLOD1 PLOD2
10 collagen fibril organization GO:0030199 8.92 COL1A1 COL1A2 PLOD1 PLOD2

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.93 COL1A1 COL1A2 FKBP10 P3H1 PLOD1 PLOD2
2 iron ion binding GO:0005506 9.58 P3H1 PLOD1 PLOD2
3 dioxygenase activity GO:0051213 9.5 P3H1 PLOD1 PLOD2
4 protease binding GO:0002020 9.48 COL1A1 COL1A2
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL1A1 COL1A2
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 P3H1 PLOD1 PLOD2
7 platelet-derived growth factor binding GO:0048407 9.37 COL1A1 COL1A2
8 procollagen glucosyltransferase activity GO:0033823 9.16 PLOD1 PLOD2
9 procollagen-lysine 5-dioxygenase activity GO:0008475 8.96 PLOD1 PLOD2
10 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....