MCID: FBR025
MIFTS: 49

Fibrochondrogenesis

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

Aliases & Classifications for Fibrochondrogenesis

MalaCards integrated aliases for Fibrochondrogenesis:

Name: Fibrochondrogenesis 12 76 53 25 59 37 29 13 6 44 15 40 73
Fibrochondrogenesis, Type 1 40
Fibrochondrogenesis, Type 2 40
Fibrochondrogenesis 1 73
Fibrochondrogenesis 2 73
Fibrochondrogenesis-1 25
Fibrochondrogenesis-2 25
Fbcg1 25
Fbcg2 25

Characteristics:

Orphanet epidemiological data:

59
fibrochondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:



Summaries for Fibrochondrogenesis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2021Disease definitionFibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Fibrochondrogenesis, also known as fibrochondrogenesis, type 1, is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including edema An important gene associated with Fibrochondrogenesis is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are NF-KappaB Family Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, lung and eye, and related phenotypes are narrow mouth and cleft palate

Genetics Home Reference : 25 Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.

Wikipedia : 76 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

Related Diseases for Fibrochondrogenesis

Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to Fibrochondrogenesis

Symptoms & Phenotypes for Fibrochondrogenesis

Human phenotypes related to Fibrochondrogenesis:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
2 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
3 wide anterior fontanel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000260
4 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
5 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
6 hearing abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000364
7 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
8 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
9 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
10 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
11 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
12 short ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000773
13 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
14 hypoplastic scapulae 59 32 frequent (33%) Frequent (79-30%) HP:0000882
15 broad ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000885
16 abnormal diaphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000940
17 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
18 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
19 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
20 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
21 bell-shaped thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0001591
22 hypoplastic fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0001804
23 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
24 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
25 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
26 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
27 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
28 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
29 abnormality of the ribs 59 Very frequent (99-80%)

UMLS symptoms related to Fibrochondrogenesis:


edema

MGI Mouse Phenotypes related to Fibrochondrogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 CD44 COL11A1 COL11A2 ENG SLC35D1 BMP2
2 craniofacial MP:0005382 9.85 BMP2 BMP4 COL11A1 COL11A2 ENG SLC35D1
3 digestive/alimentary MP:0005381 9.8 BMP2 BMP4 CD44 COL11A1 ENG SLC35D1
4 hearing/vestibular/ear MP:0005377 9.46 BMP2 BMP4 COL11A1 COL11A2
5 limbs/digits/tail MP:0005371 9.35 BMP2 BMP4 CD44 COL11A1 SLC35D1
6 skeleton MP:0005390 9.17 BMP2 BMP4 BMP6 CD44 COL11A1 COL11A2

Drugs & Therapeutics for Fibrochondrogenesis

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis

Cochrane evidence based reviews: fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

Genetic tests related to Fibrochondrogenesis:

# Genetic test Affiliating Genes
1 Fibrochondrogenesis 29 COL11A1

Anatomical Context for Fibrochondrogenesis

MalaCards organs/tissues related to Fibrochondrogenesis:

41
Bone, Lung, Eye, Tongue, Small Intestine

Publications for Fibrochondrogenesis

Articles related to Fibrochondrogenesis:

(show all 26)
# Title Authors Year
1
Fibrochondrogenesis: Prenatal diagnosis and outcome. ( 24127948 )
2013
2
Regulation of fibrochondrogenesis of mesenchymal stem cells in an integrated microfluidic platform embedded with biomimetic nanofibrous scaffolds. ( 23637803 )
2013
3
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. ( 23906683 )
2013
4
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? ( 23026214 )
2012
5
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. ( 22246659 )
2012
6
Fibrochondrogenesis, an antenatal and postnatal correlation. ( 22439129 )
2012
7
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. ( 21668896 )
2012
8
Evaluation of in vitro growth factor treatments on fibrochondrogenesis by synovial membrane cells from osteoarthritic and nonosteoarthritic joints of dogs. ( 21453151 )
2011
9
The influence of an aligned nanofibrous topography on human mesenchymal stem cell fibrochondrogenesis. ( 20494438 )
2010
10
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. ( 21035103 )
2010
11
Development of serum-free, chemically defined conditions for human embryonic stem cell-derived fibrochondrogenesis. ( 19231974 )
2009
12
Fibrochondrogenesis of hESCs: growth factor combinations and cocultures. ( 18454697 )
2009
13
Fibrochondrogenesis in two embryonic stem cell lines: effects of differentiation timelines. ( 18032702 )
2008
14
Fibrochondrogenesis. ( 28386830 )
2005
15
Fibrochondrogenesis. ( 15876767 )
2005
16
Two sibs with fibrochondrogenesis. ( 15150788 )
2004
17
Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds. ( 15009938 )
2004
18
Fetal fibrochondrogenesis at 26 weeks' gestation. ( 12224076 )
2002
19
Recurrence of fibrochondrogenesis in a consanguineous family. ( 10327253 )
1999
20
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. ( 9475607 )
1998
21
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis. ( 9759906 )
1998
22
Fibrochondrogenesis: clinical and radiological features. ( 9134297 )
1997
23
A new case of fibrochondrogenesis from Spain. ( 8733059 )
1996
24
Fibrochondrogenesis in male twins at 24 weeks gestation. ( 2012139 )
1991
25
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. ( 6507478 )
1984
26
Fibrochondrogenesis: radiologic and histologic studies. ( 6507479 )
1984

Variations for Fibrochondrogenesis

ClinVar genetic disease variations for Fibrochondrogenesis:

6
(show top 50) (show all 399)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh37 Chromosome 1, 103471629: 103471629
2 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh38 Chromosome 1, 103006073: 103006073
3 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh37 Chromosome 1, 103412440: 103412440
4 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh38 Chromosome 1, 102946884: 102946884
5 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh37 Chromosome 1, 103455118: 103455118
6 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh38 Chromosome 1, 102989562: 102989562
7 COL11A1 COL11A1, GLY1315TER undetermined variant Pathogenic
8 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
9 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
10 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
11 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
12 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
13 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
14 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
15 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
16 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
17 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
18 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
19 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
20 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
21 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
22 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
23 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
24 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
25 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
26 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
27 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
28 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
29 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
30 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
31 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
32 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
33 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
34 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh37 Chromosome 1, 103364487: 103364487
35 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh38 Chromosome 1, 102898931: 102898931
36 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh37 Chromosome 1, 103379193: 103379193
37 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh38 Chromosome 1, 102913637: 102913637
38 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs746011545 GRCh37 Chromosome 1, 103471457: 103471459
39 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs746011545 GRCh38 Chromosome 1, 103005901: 103005903
40 COL11A1 NM_001854.3(COL11A1): c.1944+11T> C single nucleotide variant Benign rs71664954 GRCh37 Chromosome 1, 103469989: 103469989
41 COL11A1 NM_001854.3(COL11A1): c.1944+11T> C single nucleotide variant Benign rs71664954 GRCh38 Chromosome 1, 103004433: 103004433
42 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
43 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
44 COL11A1 NM_001854.3(COL11A1): c.2578T> A (p.Phe860Ile) single nucleotide variant Benign/Likely benign rs141548164 GRCh37 Chromosome 1, 103444970: 103444970
45 COL11A1 NM_001854.3(COL11A1): c.2578T> A (p.Phe860Ile) single nucleotide variant Benign/Likely benign rs141548164 GRCh38 Chromosome 1, 102979414: 102979414
46 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
47 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
48 COL11A1 NM_080629.2(COL11A1): c.652-7_652-6delTT deletion Benign rs570169691 GRCh37 Chromosome 1, 103496806: 103496807
49 COL11A1 NM_080629.2(COL11A1): c.652-7_652-6delTT deletion Benign rs570169691 GRCh38 Chromosome 1, 103031250: 103031251
50 COL11A1 NM_001854.3(COL11A1): c.652-6dupT duplication Conflicting interpretations of pathogenicity rs749687230 GRCh37 Chromosome 1, 103496806: 103496806

Expression for Fibrochondrogenesis

Search GEO for disease gene expression data for Fibrochondrogenesis.

Pathways for Fibrochondrogenesis

GO Terms for Fibrochondrogenesis

Cellular components related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 BMP2 BMP4 BMP6 COL11A1 ENG
2 endoplasmic reticulum lumen GO:0005788 9.13 BMP4 COL11A1 COL11A2
3 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

Biological processes related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.9 BMP2 BMP4 ENG
2 regulation of apoptotic process GO:0042981 9.88 BMP2 BMP4 BMP6
3 heart development GO:0007507 9.85 BMP2 BMP4 ENG
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 BMP2 BMP4 CD44
5 negative regulation of gene expression GO:0010629 9.85 BMP2 BMP4 ENG
6 positive regulation of protein phosphorylation GO:0001934 9.82 BMP2 BMP4 ENG
7 positive regulation of neuron differentiation GO:0045666 9.77 BMP2 BMP4 BMP6
8 positive regulation of endothelial cell proliferation GO:0001938 9.74 BMP2 BMP4 BMP6
9 SMAD protein signal transduction GO:0060395 9.73 BMP2 BMP4 BMP6
10 cell fate commitment GO:0045165 9.72 BMP2 BMP4
11 collagen catabolic process GO:0030574 9.72 COL11A1 COL11A2
12 positive regulation of protein binding GO:0032092 9.72 BMP2 BMP4
13 cell development GO:0048468 9.72 BMP2 BMP4 BMP6
14 positive regulation of epithelial cell proliferation GO:0050679 9.71 BMP4 BMP6
15 odontogenesis of dentin-containing tooth GO:0042475 9.71 BMP2 BMP4
16 bone development GO:0060348 9.71 BMP4 ENG
17 cellular response to growth factor stimulus GO:0071363 9.71 BMP2 BMP4
18 regulation of MAPK cascade GO:0043408 9.71 BMP2 BMP4 BMP6
19 embryonic skeletal system morphogenesis GO:0048704 9.7 BMP4 COL11A1
20 positive regulation of cell differentiation GO:0045597 9.7 BMP2 BMP4
21 positive regulation of epithelial to mesenchymal transition GO:0010718 9.7 BMP2 BMP4
22 branching involved in ureteric bud morphogenesis GO:0001658 9.7 BMP2 BMP4
23 negative regulation of cell cycle GO:0045786 9.69 BMP2 BMP4
24 collagen fibril organization GO:0030199 9.69 COL11A1 COL11A2
25 skeletal system morphogenesis GO:0048705 9.69 COL11A1 COL11A2
26 positive regulation of osteoblast differentiation GO:0045669 9.69 BMP2 BMP4 BMP6
27 embryonic skeletal system development GO:0048706 9.68 BMP4 SLC35D1
28 positive regulation of BMP signaling pathway GO:0030513 9.68 BMP4 ENG
29 cardiac muscle cell differentiation GO:0055007 9.67 BMP2 BMP4
30 telencephalon development GO:0021537 9.67 BMP2 BMP4
31 skeletal system development GO:0001501 9.67 BMP2 BMP4 BMP6 COL11A2
32 endochondral ossification GO:0001958 9.66 BMP4 BMP6
33 outflow tract septum morphogenesis GO:0003148 9.66 BMP4 ENG
34 positive regulation of collagen biosynthetic process GO:0032967 9.65 BMP4 ENG
35 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 BMP2 BMP4
36 chondrocyte differentiation GO:0002062 9.65 BMP2 BMP4 COL11A2
37 positive regulation of endothelial cell differentiation GO:0045603 9.64 BMP4 BMP6
38 endocardial cushion morphogenesis GO:0003203 9.64 BMP2 ENG
39 positive regulation of cartilage development GO:0061036 9.63 BMP2 BMP4
40 positive regulation of ossification GO:0045778 9.63 BMP2 BMP4
41 cellular response to BMP stimulus GO:0071773 9.63 BMP2 BMP4 BMP6
42 positive regulation of SMAD protein signal transduction GO:0060391 9.62 BMP4 BMP6
43 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.62 BMP4 ENG
44 osteoblast differentiation GO:0001649 9.62 BMP2 BMP4 BMP6 COL11A2
45 type B pancreatic cell development GO:0003323 9.61 BMP4 BMP6
46 smooth muscle tissue development GO:0048745 9.61 BMP4 ENG
47 proteoglycan metabolic process GO:0006029 9.6 BMP2 COL11A1
48 telencephalon regionalization GO:0021978 9.58 BMP2 BMP4
49 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.58 BMP2 BMP4
50 positive regulation of bone mineralization GO:0030501 9.58 BMP2 BMP4 BMP6

Molecular functions related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.5 BMP2 BMP4 BMP6
2 growth factor activity GO:0008083 9.43 BMP2 BMP4 BMP6
3 extracellular matrix structural constituent GO:0005201 9.37 COL11A1 COL11A2
4 co-receptor binding GO:0039706 9.16 BMP2 BMP4
5 transforming growth factor beta receptor binding GO:0005160 9.13 BMP2 BMP4 BMP6
6 BMP receptor binding GO:0070700 8.8 BMP2 BMP4 BMP6

Sources for Fibrochondrogenesis

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
Content
Loading form....