MCID: GNG025
MIFTS: 51

Gingival Fibromatosis

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Gingival Fibromatosis

MalaCards integrated aliases for Gingival Fibromatosis:

Name: Gingival Fibromatosis 12 29 6 15
Hereditary Gingival Fibromatosis 12 59 72
Hereditary Gingival Hyperplasia 12 59
Autosomal Dominant Gingival Fibromatosis 59
Autosomal Dominant Gingival Hyperplasia 59
Fibromatosis, Gingival, Hereditary 44

Characteristics:

Orphanet epidemiological data:

59
hereditary gingival fibromatosis
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0060466
MeSH 44 C562884
ICD10 via Orphanet 34 K06.1
UMLS via Orphanet 73 C0399440
Orphanet 59 ORPHA2024
UMLS 72 C0399440

Summaries for Gingival Fibromatosis

Disease Ontology : 12 A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.

MalaCards based summary : Gingival Fibromatosis, also known as hereditary gingival fibromatosis, is related to zimmermann-laband syndrome 1 and zimmermann-laband syndrome. An important gene associated with Gingival Fibromatosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are GPCR Pathway and Integrin Pathway. The drugs Phenytoin and Calcium have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, testes and tongue, and related phenotypes are gingival overgrowth and gingival fibromatosis

Related Diseases for Gingival Fibromatosis

Diseases in the Gingival Fibromatosis family:

Fibromatosis, Gingival, 1 Fibromatosis, Gingival, 2
Fibromatosis, Gingival, 3 Fibromatosis, Gingival, 4
Fibromatosis, Gingival, 5

Diseases related to Gingival Fibromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 34.4 KCNH1 ATP6V1B2
2 zimmermann-laband syndrome 34.1 KCNH1 ATP6V1B2
3 fibromatosis, gingival, 1 33.3 TGFB1 SOS1 SERPINH1 MMP2 MMP1 CD36
4 periodontitis 30.3 TIMP1 MMP3 MMP2 MMP1
5 gingival disease 30.2 TIMP1 TGFB1 SOS1 MMP1
6 gingival overgrowth 28.3 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
7 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.6
8 fibromatosis, gingival, with progressive deafness 12.5
9 fibromatosis, gingival, 2 12.4
10 fibromatosis, gingival, 4 12.4
11 ramon syndrome 12.4
12 fibromatosis, gingival, 5 12.2
13 amelogenesis imperfecta, type ig 12.1
14 fibromatosis, gingival, with distinctive facies 12.0
15 fibromatosis, gingival, 3 12.0
16 oculocerebral syndrome with hypopigmentation 11.7
17 rutherfurd syndrome 11.7
18 zimmermann-laband syndrome 2 11.4
19 fibromatosis 11.2
20 overgrowth syndrome 10.8
21 hypertrichosis 10.6
22 aggressive periodontitis 10.4
23 cherubism 10.3
24 hair whorl 10.3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
26 superior limbic keratoconjunctivitis 10.3 MMP3 MMP1
27 amelogenesis imperfecta 10.3
28 gingival hypertrophy 10.3
29 growth hormone deficiency 10.3
30 villous adenocarcinoma 10.3 MMP2 FN1
31 odontogenic myxoma 10.3 MMP2 MMP1 CD36
32 hypertensive heart disease 10.2 MMP2 MMP1 CD36
33 branchiootic syndrome 1 10.2
34 sensorineural hearing loss 10.2
35 elephantiasis 10.2
36 internal hemorrhoid 10.2 MMP2 MMP1
37 inguinal hernia 10.2 TIMP1 MMP2 MMP1
38 differentiated thyroid carcinoma 10.1 TGFB1 FN1 CD36
39 hypertelorism 10.1
40 sarcoidosis 1 10.1
41 teeth, supernumerary 10.1
42 alacrima, achalasia, and mental retardation syndrome 10.1
43 fibroma 10.1
44 epilepsy 10.1
45 gingivitis 10.1
46 cowden syndrome 10.1
47 48,xyyy 10.1
48 splenomegaly 10.1
49 hypoplastic amelogenesis imperfecta 10.1
50 tendinopathy 10.1 MMP3 MMP1

Graphical network of the top 20 diseases related to Gingival Fibromatosis:



Diseases related to Gingival Fibromatosis

Symptoms & Phenotypes for Gingival Fibromatosis

Human phenotypes related to Gingival Fibromatosis:

59
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 59 Very frequent (99-80%)
2 gingival fibromatosis 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Gingival Fibromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 CCN2 CD36 FN1 KCNQ1 MMP2 REST
2 growth/size/body region MP:0005378 10.11 CAMK4 CCN2 CD36 FN1 KCNQ1 MMP2
3 endocrine/exocrine gland MP:0005379 10.06 ATP6V1B2 CAMK4 CCN2 CD36 ITGA2 KCNQ1
4 homeostasis/metabolism MP:0005376 10.03 CAMK4 CCN2 CD36 FN1 ITGA2 KCNQ1
5 hematopoietic system MP:0005397 10.02 ATP6V1B2 CAMK4 CD36 FN1 ITGA2 MMP2
6 immune system MP:0005387 9.85 ATP6V1B2 CAMK4 CD36 FN1 MMP1 MMP2
7 nervous system MP:0003631 9.7 CAMK4 CD36 FN1 KCNH1 KCNQ1 MMP2
8 skeleton MP:0005390 9.32 CAMK4 CCN2 CD36 FN1 MMP2 MMP3

Drugs & Therapeutics for Gingival Fibromatosis

Drugs for Gingival Fibromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenytoin Approved, Vet_approved 57-41-0 1775
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Cyclosporins
4 calcium channel blockers
5 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026

Search NIH Clinical Center for Gingival Fibromatosis

Cochrane evidence based reviews: fibromatosis, gingival, hereditary

Genetic Tests for Gingival Fibromatosis

Genetic tests related to Gingival Fibromatosis:

# Genetic test Affiliating Genes
1 Gingival Fibromatosis 29

Anatomical Context for Gingival Fibromatosis

MalaCards organs/tissues related to Gingival Fibromatosis:

41
Salivary Gland, Testes, Tongue, Pituitary

Publications for Gingival Fibromatosis

Articles related to Gingival Fibromatosis:

(show top 50) (show all 343)
# Title Authors PMID Year
1
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 38 71
11868160 2002
2
Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis. 38
31323181 2019
3
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. 38
30907493 2019
4
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 38
31090139 2019
5
Zimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis. 38
31261938 2019
6
Fibroblasts Collagen Production and Histological Alterations in Hereditary Gingival Fibromatosis. 38
31130610 2019
7
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 38
31275518 2019
8
Fibroblasts from recurrent fibrotic overgrowths reveal high rate of proliferation in vitro - findings from the study of hereditary and idiopathic gingival fibromatosis. 38
30231645 2019
9
Rare case report of idiopathic gingival fibromatosis in childhood and its management. 38
30674497 2019
10
Towards the targeted management of hereditary gingival fibromatosis. 38
30396478 2018
11
TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis. 38
29989318 2018
12
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 38
30394349 2018
13
Hereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up. 38
30510301 2018
14
Nonsyndromic Gingival Fibromatosis: A Rare Case Report. 38
30131651 2018
15
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. 38
29703730 2018
16
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1. 38
29325232 2018
17
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. 38
29435271 2018
18
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 38
29439260 2018
19
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome. 38
29740400 2018
20
The Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis. 38
28937892 2018
21
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 38
29097701 2017
22
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. 38
28425619 2017
23
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. 38
29026519 2017
24
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 38
28650561 2017
25
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients. 38
28433619 2017
26
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 38
28836540 2017
27
Periodontal disease and FAM20A mutations. 38
28298625 2017
28
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 38
28686854 2017
29
Hereditary gingival fibromatosis: Characteristics and treatment approach. 38
28469831 2017
30
Unusual presentation of familial gingival fibromatosis among male siblings. 38
29398861 2017
31
Giant maxillary gingival fibromatosis. 38
27791424 2017
32
FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? 38
28515694 2017
33
On the Cellular and Molecular Mechanisms of Drug-Induced Gingival Overgrowth. 38
28868093 2017
34
Modeling RASopathies with Genetically Modified Mouse Models. 38
27924582 2017
35
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. 38
27614106 2017
36
The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report. 38
30512259 2016
37
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. 38
28171221 2016
38
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. 38
27994842 2016
39
Gingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence. 38
27609299 2016
40
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. 38
26873770 2016
41
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. 38
27260277 2016
42
Idiopathic Gingival Fibromatosis: Case Report and Review of the Literature. 38
27043333 2016
43
Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth. 38
27281036 2016
44
Genomic analysis of gum disease and hypertrichosis in foxes. 38
27323055 2016
45
Ambras syndrome: A rare case report. 38
27080973 2016
46
Gingival proliferative lesions in children and adolescents in Brazil: A 15-year-period cross-sectional study. 38
27041840 2016
47
Gingival fibromatosis: clinical, molecular and therapeutic issues. 38
26818898 2016
48
Idiopathic gingival fibromatosis with asymmetrical presentation and electrosurgical management. 38
27041849 2016
49
[Unilateral idiopathic gingival fibromatosis--a case report]. 38
27526431 2016
50
Recent advances in RASopathies. 38
26446362 2016

Variations for Gingival Fibromatosis

ClinVar genetic disease variations for Gingival Fibromatosis:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SOS1 NM_005633.3(SOS1): c.1989A> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781172 2:39241082-39241082 2:39013941-39013941
2 SOS1 NM_005633.3(SOS1): c.*4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188849286 2:39212961-39212961 2:38985820-38985820
3 SOS1 NM_005633.3(SOS1): c.2673+14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs183998234 2:39234158-39234158 2:39007017-39007017
4 SOS1 NM_005633.3(SOS1): c.899G> A (p.Arg300Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs754374236 2:39262607-39262607 2:39035466-39035466
5 SOS1 NM_005633.3(SOS1): c.865-4T> C single nucleotide variant Uncertain significance rs750788947 2:39262645-39262645 2:39035504-39035504
6 SOS1 NM_005633.3(SOS1): c.*4221C> T single nucleotide variant Uncertain significance rs565544523 2:39208744-39208744 2:38981603-38981603
7 SOS1 NM_005633.3(SOS1): c.*766del deletion Uncertain significance rs533720751 2:39212199-39212199 2:38985058-38985058
8 SOS1 NM_005633.3(SOS1): c.*298C> G single nucleotide variant Uncertain significance rs886056021 2:39212667-39212667 2:38985526-38985526
9 SOS1 NM_005633.3(SOS1): c.*223C> T single nucleotide variant Uncertain significance rs886056022 2:39212742-39212742 2:38985601-38985601
10 SOS1 NM_005633.3(SOS1): c.3709C> G (p.Pro1237Ala) single nucleotide variant Uncertain significance rs371408734 2:39213258-39213258 2:38986117-38986117
11 SOS1 NM_005633.3(SOS1): c.1659G> A (p.Met553Ile) single nucleotide variant Uncertain significance rs886056025 2:39249910-39249910 2:39022769-39022769
12 SOS1 NM_005633.3(SOS1): c.*2208dup duplication Uncertain significance rs886056010 2:39210757-39210757 2:38983616-38983616
13 SOS1 NM_005633.3(SOS1): c.*1589T> G single nucleotide variant Uncertain significance rs886056014 2:39211376-39211376 2:38984235-38984235
14 SOS1 NM_005633.3(SOS1): c.*2218T> A single nucleotide variant Uncertain significance rs886056009 2:39210747-39210747 2:38983606-38983606
15 SOS1 NM_005633.3(SOS1): c.*1678C> A single nucleotide variant Uncertain significance rs886056013 2:39211287-39211287 2:38984146-38984146
16 SOS1 NM_005633.3(SOS1): c.*1516G> A single nucleotide variant Uncertain significance rs550823381 2:39211449-39211449 2:38984308-38984308
17 SOS1 NM_005633.3(SOS1): c.*1224A> G single nucleotide variant Uncertain significance rs886056015 2:39211741-39211741 2:38984600-38984600
18 SOS1 NM_005633.3(SOS1): c.*855G> A single nucleotide variant Uncertain significance rs886056017 2:39212110-39212110 2:38984969-38984969
19 SOS1 NM_005633.3(SOS1): c.*758A> T single nucleotide variant Uncertain significance rs182650589 2:39212207-39212207 2:38985066-38985066
20 SOS1 NM_005633.3(SOS1): c.*642T> C single nucleotide variant Uncertain significance rs886056019 2:39212323-39212323 2:38985182-38985182
21 SOS1 NM_005633.3(SOS1): c.*2983C> T single nucleotide variant Uncertain significance rs190454003 2:39209982-39209982 2:38982841-38982841
22 SOS1 NM_005633.3(SOS1): c.587C> T (p.Ser196Leu) single nucleotide variant Uncertain significance rs199898869 2:39281888-39281888 2:39054747-39054747
23 SOS1 NM_005633.3(SOS1): c.*1303C> A single nucleotide variant Uncertain significance rs115153488 2:39211662-39211662 2:38984521-38984521
24 SOS1 NM_005633.3(SOS1): c.*4265A> G single nucleotide variant Uncertain significance rs377303107 2:39208700-39208700 2:38981559-38981559
25 SOS1 NM_005633.3(SOS1): c.*3725T> C single nucleotide variant Uncertain significance rs72799430 2:39209240-39209240 2:38982099-38982099
26 SOS1 NM_005633.3(SOS1): c.1720G> A (p.Val574Ile) single nucleotide variant Uncertain significance rs727504641 2:39249849-39249849 2:39022708-39022708
27 SOS1 NM_005633.3(SOS1): c.3624T> C (p.Pro1208=) single nucleotide variant Uncertain significance rs763107563 2:39213343-39213343 2:38986202-38986202
28 SOS1 NM_005633.3(SOS1): c.2121T> C (p.Asp707=) single nucleotide variant Uncertain significance rs571408451 2:39240647-39240647 2:39013506-39013506
29 SOS1 NM_005633.3(SOS1): c.*4110C> A single nucleotide variant Uncertain significance rs886056003 2:39208855-39208855 2:38981714-38981714
30 SOS1 NM_005633.3(SOS1): c.*4023T> C single nucleotide variant Uncertain significance rs1043800 2:39208942-39208942 2:38981801-38981801
31 SOS1 NM_005633.3(SOS1): c.*3727G> C single nucleotide variant Uncertain significance rs886056004 2:39209238-39209238 2:38982097-38982097
32 SOS1 NM_005633.3(SOS1): c.*3566_*3568del deletion Uncertain significance rs886056005 2:39209397-39209399 2:38982256-38982258
33 SOS1 NM_005633.3(SOS1): c.*3463A> G single nucleotide variant Uncertain significance rs886056006 2:39209502-39209502 2:38982361-38982361
34 SOS1 NM_005633.3(SOS1): c.*3451A> T single nucleotide variant Uncertain significance rs78411167 2:39209514-39209514 2:38982373-38982373
35 SOS1 NM_005633.3(SOS1): c.*2497G> A single nucleotide variant Uncertain significance rs886056008 2:39210468-39210468 2:38983327-38983327
36 SOS1 NM_005633.3(SOS1): c.*2063_*2066dup duplication Uncertain significance rs886056011 2:39210899-39210902 2:38983758-38983761
37 SOS1 NM_005633.3(SOS1): c.*1694del deletion Uncertain significance rs767903412 2:39211271-39211271 2:38984130-38984130
38 SOS1 NM_005633.3(SOS1): c.*1309A> G single nucleotide variant Uncertain significance rs145273962 2:39211656-39211656 2:38984515-38984515
39 SOS1 NM_005633.3(SOS1): c.*696G> A single nucleotide variant Uncertain significance rs886056018 2:39212269-39212269 2:38985128-38985128
40 SOS1 NM_005633.3(SOS1): c.*544C> T single nucleotide variant Uncertain significance rs886056020 2:39212421-39212421 2:38985280-38985280
41 SOS1 NM_005633.3(SOS1): c.*534C> T single nucleotide variant Uncertain significance rs773935049 2:39212431-39212431 2:38985290-38985290
42 SOS1 NM_005633.3(SOS1): c.*3416_*3417del deletion Uncertain significance rs200892895 2:39209548-39209549 2:38982407-38982408
43 SOS1 NM_005633.3(SOS1): c.*3189_*3192del deletion Uncertain significance rs572584074 2:39209773-39209776 2:38982632-38982635
44 SOS1 NM_005633.3(SOS1): c.*2503_*2506dup duplication Uncertain significance rs886056007 2:39210459-39210462 2:38983318-38983321
45 SOS1 NM_005633.3(SOS1): c.*2048_*2050dup duplication Uncertain significance rs761591990 2:39210915-39210917 2:38983774-38983776
46 SOS1 NM_005633.3(SOS1): c.*1684G> C single nucleotide variant Uncertain significance rs886056012 2:39211281-39211281 2:38984140-38984140
47 SOS1 NM_005633.3(SOS1): c.*1552T> A single nucleotide variant Uncertain significance rs139679723 2:39211413-39211413 2:38984272-38984272
48 SOS1 NM_005633.3(SOS1): c.*1385A> G single nucleotide variant Uncertain significance rs868000333 2:39211580-39211580 2:38984439-38984439
49 SOS1 NM_005633.3(SOS1): c.*1090_*1093TTTG[1] short repeat Uncertain significance rs886056016 2:39211868-39211871 2:38984727-38984730
50 SOS1 NM_005633.3(SOS1): c.*909G> A single nucleotide variant Uncertain significance rs147219108 2:39212056-39212056 2:38984915-38984915

Expression for Gingival Fibromatosis

Search GEO for disease gene expression data for Gingival Fibromatosis.

Pathways for Gingival Fibromatosis

Pathways related to Gingival Fibromatosis according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
2
Show member pathways
13.32 TGFB1 SOS1 MMP3 MMP2 MMP1 ITGA2
3
Show member pathways
13.26 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
4
Show member pathways
13.25 TIMP1 TGFB1 SOS1 MMP1 ITGA2 FN1
5
Show member pathways
12.96 TGFB1 SOS1 MMP2 MMP1 KCNQ1 CAMK4
6
Show member pathways
12.95 TIMP1 TGFB1 SOS1 ITGA2 FN1 CCN2
7 12.72 TGFB1 SOS1 MMP2 MMP1 ITGA2 FN1
8
Show member pathways
12.34 TIMP1 TGFB1 SOS1 ITGA2 CCN2
9
Show member pathways
12.21 TIMP1 TGFB1 SERPINH1 MMP3 MMP2 MMP1
10
Show member pathways
12.19 TIMP1 SOS1 MMP3 MMP1
11
Show member pathways
12.16 TGFB1 SOS1 MMP1 FN1
12
Show member pathways
12.15 SOS1 MMP3 MMP2 MMP1 ITGA2 FN1
13 12.11 TGFB1 SOS1 MMP2 MMP1
14 12.11 TGFB1 SOS1 MMP2 ITGA2 FN1
15
Show member pathways
11.94 MMP3 MMP2 FN1 CD36
16 11.84 TGFB1 SOS1 MMP1 ITGA2 FN1
17 11.83 TGFB1 MMP2 FN1
18
Show member pathways
11.79 TIMP1 MMP3 MMP2 MMP1
19 11.73 TGFB1 MMP3 MMP1 ATP6V1B2
20 11.68 TIMP1 TGFB1 MMP3 MMP2
21 11.67 TGFB1 MMP3 CD36
22 11.65 TIMP1 TGFB1 SOS1 ITGA2 CCN2
23 11.62 TGFB1 SERPINH1 CDKN1C
24
Show member pathways
11.6 MMP3 MMP2 MMP1
25 11.49 TGFB1 SOS1 CCN2
26 11.48 TGFB1 SOS1 MMP1
27 11.47 TIMP1 TGFB1 MMP2 CCN2
28 11.44 MMP2 FN1 CCN2
29 11.34 TIMP1 MMP3 MMP2 MMP1 FN1
30 11.22 TIMP1 TGFB1 MMP3 MMP2 MMP1 FN1
31 11.08 TGFB1 MMP2 ITGA2 FN1
32 11.01 SOS1 ITGA2 FN1
33 10.96 TIMP1 TGFB1 ITGA2 FN1 CCN2
34 10.95 TIMP1 MMP1
35 10.92 TGFB1 FN1
36 10.89 TGFB1 MMP1

GO Terms for Gingival Fibromatosis

Cellular components related to Gingival Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 TIMP1 TGFB1 SERPINH1 MMP3 MMP2 FN1
2 collagen-containing extracellular matrix GO:0062023 9.56 TGFB1 SERPINH1 MMP2 FN1
3 extracellular matrix GO:0031012 9.17 TIMP1 TGFB1 MMP3 MMP2 MMP1 FN1
4 platelet alpha granule lumen GO:0031093 9.13 TIMP1 TGFB1 FN1

Biological processes related to Gingival Fibromatosis according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.87 TGFB1 REST CD36 CCN2
2 cellular protein metabolic process GO:0044267 9.81 TIMP1 MMP2 MMP1 FN1
3 leukocyte migration GO:0050900 9.8 TGFB1 SOS1 MMP1 FN1
4 cell-matrix adhesion GO:0007160 9.76 ITGA2 FN1 CCN2
5 aging GO:0007568 9.76 TIMP1 TGFB1 CDKN1C CCN2
6 response to wounding GO:0009611 9.7 TGFB1 FN1 CCN2
7 platelet degranulation GO:0002576 9.67 TIMP1 TGFB1 FN1 CD36
8 response to fatty acid GO:0070542 9.61 CD36 CCN2
9 myeloid dendritic cell differentiation GO:0043011 9.6 TGFB1 CAMK4
10 positive regulation of protein oligomerization GO:0032461 9.59 MMP3 MMP1
11 intestinal absorption GO:0050892 9.58 KCNQ1 CD36
12 collagen catabolic process GO:0030574 9.58 MMP3 MMP2 MMP1
13 cell activation GO:0001775 9.56 TIMP1 TGFB1
14 wound healing GO:0042060 9.56 TIMP1 TGFB1 ITGA2 FN1
15 positive regulation of cardiac muscle contraction GO:0060452 9.55 KCNQ1 CCN2
16 positive regulation of phagocytosis, engulfment GO:0060100 9.54 ITGA2 CD36
17 positive regulation of collagen biosynthetic process GO:0032967 9.5 TGFB1 ITGA2 CCN2
18 regulation of T cell differentiation in thymus GO:0033081 9.48 SOS1 CAMK4
19 response to hypoxia GO:0001666 9.46 TGFB1 REST MMP2 ITGA2
20 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.43 TIMP1 TGFB1
21 extracellular matrix disassembly GO:0022617 9.26 TIMP1 MMP3 MMP2 MMP1
22 cytokine-mediated signaling pathway GO:0019221 9.23 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1

Molecular functions related to Gingival Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.33 MMP3 MMP2 MMP1
2 collagen binding GO:0005518 8.8 SERPINH1 ITGA2 FN1
3 outward rectifier potassium channel activity GO:0015271 8.65 KCNQ1

Sources for Gingival Fibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....