MCID: GNG025
MIFTS: 50

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 58 71
Hereditary Gingival Hyperplasia 12 58
Autosomal Dominant Gingival Fibromatosis 58
Autosomal Dominant Gingival Hyperplasia 58
Fibromatosis, Gingival, Hereditary 43

Characteristics:

Orphanet epidemiological data:

58
hereditary gingival fibromatosis
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0060466
MeSH 43 C562884
SNOMED-CT 67 109620006
ICD10 via Orphanet 33 K06.1
UMLS via Orphanet 72 C0399440
Orphanet 58 ORPHA2024
UMLS 71 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 fibromatosis, gingival, 1 and fibromatosis. 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 Cyclosporins 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 188)
# Related Disease Score Top Affiliating Genes
1 fibromatosis, gingival, 1 34.4 TGFB1 SOS1 SERPINH1 MMP2 MMP1
2 fibromatosis 32.7 SOS1 REST GINGF3
3 periodontitis 31.2 TIMP1 MMP3 MMP2 MMP1
4 gingival hypertrophy 31.1 TIMP2 SOS1 MMP3
5 gingival overgrowth 31.0 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
6 gingival disease 30.5 TIMP1 TGFB1 SOS1 MMP1 FN1
7 scoliosis 30.1 TIMP2 TIMP1 TGFB1 MMP3 CDKN1C
8 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.6
9 fibromatosis, gingival, with progressive deafness 12.5
10 fibromatosis, gingival, 2 12.4
11 zimmermann-laband syndrome 1 12.4
12 fibromatosis, gingival, 4 12.4
13 ramon syndrome 12.4
14 zimmermann-laband syndrome 12.2
15 fibromatosis, gingival, 5 12.2
16 amelogenesis imperfecta, type ig 12.1
17 fibromatosis, gingival, with distinctive facies 12.0
18 fibromatosis, gingival, 3 12.0
19 oculocerebral syndrome with hypopigmentation 11.7
20 rutherfurd syndrome 11.7
21 overgrowth syndrome 10.9
22 hypertrichosis 10.7
23 superior limbic keratoconjunctivitis 10.6 MMP3 MMP1
24 keloid disorder 10.6 TGFB1 SERPINH1
25 lymphoma, large-cell, immunoblastic 10.5 TIMP1 MYC
26 tendinopathy 10.5 MMP3 MMP1
27 hypertrophic scars 10.5 TIMP1 TGFB1 MMP2
28 tendinosis 10.5 TIMP1 MMP3 MMP1
29 venous insufficiency 10.5 TIMP2 TIMP1 MMP1
30 collagenous colitis 10.5 TIMP1 MMP1 CCN2
31 ocular cicatricial pemphigoid 10.5 TGFB1 SERPINH1 CCN2
32 spastic entropion 10.5 MMP3 MMP2 MMP1
33 bone deterioration disease 10.4 TIMP1 MMP3 MMP1
34 dupuytren contracture 10.4 TIMP2 TGFB1 SERPINH1
35 light chain deposition disease 10.4 MMP2 MMP1
36 localized scleroderma 10.4 TGFB1 MMP1 CCN2
37 fungal keratitis 10.4 TIMP2 TIMP1
38 frozen shoulder 10.4 TGFB1 MMP3 MMP2
39 aggressive periodontitis 10.4
40 vitreous disease 10.4 MMP2 FN1 CCN2
41 ureteral disease 10.4 TGFB1 FN1 CCN2
42 mckusick-kaufman syndrome 10.4 TGFB1 FN1 CCN2
43 diffuse scleroderma 10.4 TGFB1 EDN1 CCN2
44 lung giant cell carcinoma 10.4 TIMP1 MYC MMP2
45 corneal ulcer 10.4 MMP3 MMP2 FN1
46 recessive dystrophic epidermolysis bullosa 10.4 TGFB1 MYC MMP1
47 carotid artery disease 10.4 TIMP1 MMP3 MMP1
48 chronic ulcer of skin 10.4 TIMP2 MMP1 FN1
49 biliary atresia 10.4 TIMP1 TGFB1 CCN2
50 lipodermatosclerosis 10.4 TIMP2 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:

58
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 58 Very frequent (99-80%)
2 gingival fibromatosis 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Gingival Fibromatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 CAMK4 ITGA2 MMP2 MYC SOS1 TGFB1

MGI Mouse Phenotypes related to Gingival Fibromatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 CCN2 EDN1 FN1 KCNQ1 MMP2 MYC
2 growth/size/body region MP:0005378 10.1 CAMK4 CCN2 EDN1 FN1 KCNQ1 MMP2
3 homeostasis/metabolism MP:0005376 10.1 CAMK4 CCN2 EDN1 FN1 ITGA2 KCNQ1
4 endocrine/exocrine gland MP:0005379 10.02 CAMK4 CCN2 EDN1 ITGA2 KCNQ1 MYC
5 craniofacial MP:0005382 10.01 CCN2 EDN1 FN1 MMP2 MYC SERPINH1
6 nervous system MP:0003631 9.93 CAMK4 EDN1 FN1 KCNQ1 MMP2 MMP3
7 normal MP:0002873 9.61 CAMK4 CCN2 EDN1 FN1 ITGA2 KCNQ1
8 skeleton MP:0005390 9.36 CAMK4 CCN2 EDN1 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 Cyclosporins
3 Calcium, Dietary
4 calcium channel blockers
5
Calcium Nutraceutical 7440-70-2 271

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:

40
Salivary Gland, Testes, Tongue, Pituitary

Publications for Gingival Fibromatosis

Articles related to Gingival Fibromatosis:

(show top 50) (show all 351)
# Title Authors PMID Year
1
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 61 6
11868160 2002
2
Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology. 61
32413193 2020
3
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
4
[Hereditary gingival fibromatosis: a three-generation case report]. 61
32037776 2020
5
Unusual clinical and histologic findings in a child with mixed dentition with hereditary gingival fibromatosis: a case report. 61
32154139 2020
6
Gingival fibromatosis with congenital hypertrichosis. 61
31983850 2020
7
Generalized hereditary gingival fibromatosis in a child: clinical, histopathological and therapeutic aspects. 61
32039068 2020
8
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
9
Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis. 61
31323181 2019
10
Ramon Syndrome- A Rare Form of Cherubism. 61
31909027 2019
11
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. 61
30907493 2019
12
Zimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis. 61
31261938 2019
13
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
14
Fibroblasts Collagen Production and Histological Alterations in Hereditary Gingival Fibromatosis. 61
31130610 2019
15
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 61
31275518 2019
16
Rare case report of idiopathic gingival fibromatosis in childhood and its management. 61
30674497 2019
17
Fibroblasts from recurrent fibrotic overgrowths reveal high rate of proliferation in vitro - findings from the study of hereditary and idiopathic gingival fibromatosis. 61
30231645 2019
18
Towards the targeted management of hereditary gingival fibromatosis. 61
30396478 2018
19
TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis. 61
29989318 2018
20
Hereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up. 61
30510301 2018
21
Nonsyndromic Gingival Fibromatosis: A Rare Case Report. 61
30131651 2018
22
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. 61
29703730 2018
23
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1. 61
29325232 2018
24
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. 61
29435271 2018
25
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 61
29439260 2018
26
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome. 61
29740400 2018
27
The Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis. 61
28937892 2018
28
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 61
29097701 2017
29
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. 61
28425619 2017
30
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. 61
29026519 2017
31
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 61
28650561 2017
32
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients. 61
28433619 2017
33
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 61
28836540 2017
34
Periodontal disease and FAM20A mutations. 61
28298625 2017
35
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 61
28686854 2017
36
Hereditary gingival fibromatosis: Characteristics and treatment approach. 61
28469831 2017
37
Unusual presentation of familial gingival fibromatosis among male siblings. 61
29398861 2017
38
Giant maxillary gingival fibromatosis. 61
27791424 2017
39
FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? 61
28515694 2017
40
On the Cellular and Molecular Mechanisms of Drug-Induced Gingival Overgrowth. 61
28868093 2017
41
Decreased Alpha 2 integrin gene expression in non-familial gingival fibromatosis: a report of two cases. 61
31966593 2017
42
Modeling RASopathies with Genetically Modified Mouse Models. 61
27924582 2017
43
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. 61
27614106 2017
44
The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report. 61
30512259 2016
45
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. 61
27994842 2016
46
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. 61
28171221 2016
47
Gingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence. 61
27609299 2016
48
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. 61
26873770 2016
49
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. 61
27260277 2016
50
Idiopathic Gingival Fibromatosis: Case Report and Review of the Literature. 61
27043333 2016

Variations for Gingival Fibromatosis

ClinVar genetic disease variations for Gingival Fibromatosis:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF862 NM_001099220.3(ZNF862):c.2812G>A (p.Ala938Thr)SNV Likely pathogenic 870571 7:149559061-149559061 7:149861972-149861972
2 SOS1 NM_005633.3(SOS1):c.1989A>C (p.Ile663=)SNV Conflicting interpretations of pathogenicity 139227 rs587781172 2:39241082-39241082 2:39013941-39013941
3 SOS1 NM_005633.3(SOS1):c.*2208dupduplication Uncertain significance 335984 rs886056010 2:39210756-39210757 2:38983615-38983616
4 SOS1 NM_005633.3(SOS1):c.*766deldeletion Uncertain significance 336004 rs533720751 2:39212199-39212199 2:38985058-38985058
5 SOS1 NM_005633.3(SOS1):c.*298C>GSNV Uncertain significance 336012 rs886056021 2:39212667-39212667 2:38985526-38985526
6 SOS1 NM_005633.3(SOS1):c.*3566_*3568deldeletion Uncertain significance 335972 rs886056005 2:39209397-39209399 2:38982256-38982258
7 SOS1 NM_005633.3(SOS1):c.*2063_*2066dupduplication Uncertain significance 335985 rs886056011 2:39210898-39210899 2:38983757-38983758
8 SOS1 NM_005633.3(SOS1):c.*1694deldeletion Uncertain significance 335989 rs767903412 2:39211271-39211271 2:38984130-38984130
9 SOS1 NM_005633.3(SOS1):c.*696G>ASNV Uncertain significance 336006 rs886056018 2:39212269-39212269 2:38985128-38985128
10 SOS1 NM_005633.3(SOS1):c.*3416_*3417deldeletion Uncertain significance 335976 rs200892895 2:39209548-39209549 2:38982407-38982408
11 SOS1 NM_005633.3(SOS1):c.*3189_*3192deldeletion Uncertain significance 335977 rs572584074 2:39209773-39209776 2:38982632-38982635
12 SOS1 NM_005633.3(SOS1):c.*2503_*2506dupduplication Uncertain significance 335980 rs886056007 2:39210458-39210459 2:38983317-38983318
13 SOS1 NM_005633.3(SOS1):c.*2048_*2050dupduplication Uncertain significance 335986 rs761591990 2:39210914-39210915 2:38983773-38983774
14 SOS1 NM_005633.3(SOS1):c.*1094_*1097delTTTGshort repeat Uncertain significance 336000 rs886056016 2:39211868-39211871 2:38984727-38984730
15 SOS1 NM_005633.3(SOS1):c.*399_*400insCAinsertion Likely benign 336010 rs144104838 2:39212565-39212566 2:38985424-38985425
16 SOS1 NM_005633.3(SOS1):c.*1333_*1336dupduplication Likely benign 335996 rs35969619 2:39211628-39211629 2:38984487-38984488
17 SOS1 NM_005633.3(SOS1):c.*2244_*2245dupduplication Likely benign 212289 rs3832123 2:39210719-39210720 2:38983578-38983579
18 SOS1 NM_005633.3(SOS1):c.*1606deldeletion Likely benign 212288 rs34248802 2:39211359-39211359 2:38984218-38984218
19 SOS1 NM_005633.3(SOS1):c.*2439deldeletion Likely benign 335982 rs377250198 2:39210526-39210526 2:38983385-38983385

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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 TIMP2 TIMP1 TGFB1 SOS1 MYC MMP3
2
Show member pathways
13.38 TGFB1 SOS1 MYC MMP3 MMP2 MMP1
3
Show member pathways
13.32 TIMP1 TGFB1 SOS1 MYC MMP3 MMP2
4
Show member pathways
12.99 TIMP2 TIMP1 TGFB1 SOS1 ITGA2 FN1
5
Show member pathways
12.83 TGFB1 SOS1 ITGA2 EDN1 CAMK4
6
Show member pathways
12.8 SOS1 ITGA2 FN1 EDN1 CAMK4
7 12.7 TGFB1 SOS1 MYC MMP2 MMP1 ITGA2
8
Show member pathways
12.65 TGFB1 SOS1 MMP2 MMP1 EDN1
9
Show member pathways
12.56 TIMP1 SOS1 MYC MMP2 FN1
10
Show member pathways
12.46 TIMP2 TIMP1 TGFB1 SERPINH1 MMP3 MMP2
11
Show member pathways
12.37 TIMP2 TIMP1 TGFB1 SOS1 ITGA2 CCN2
12
Show member pathways
12.28 TIMP1 SOS1 MMP3 MMP1 FN1
13
Show member pathways
12.24 TIMP2 TIMP1 TGFB1 MYC CCN2
14 12.22 TGFB1 SOS1 MYC MMP2 ITGA2 FN1
15
Show member pathways
12.21 TGFB1 SOS1 MMP1 FN1
16 12.16 TGFB1 SOS1 MYC MMP2 MMP1
17 11.88 TGFB1 MMP2 FN1 EDN1
18 11.86 TGFB1 SOS1 MYC MMP1 ITGA2 FN1
19 11.85 TGFB1 SOS1 MYC
20
Show member pathways
11.85 TIMP2 TIMP1 MMP3 MMP2 MMP1
21 11.83 TGFB1 MMP3 MMP1
22 11.82 MYC ITGA2 FN1
23
Show member pathways
11.79 TIMP1 SOS1 MYC
24 11.75 MYC MMP2 CAMK4
25 11.75 TIMP2 TIMP1 TGFB1 MMP3 MMP2
26 11.71 MYC MMP2 MMP1
27 11.7 TIMP2 TIMP1 TGFB1 SOS1 ITGA2 CCN2
28 11.68 SOS1 MYC FN1
29 11.65 TGFB1 SERPINH1 CDKN1C
30
Show member pathways
11.64 MMP3 MMP2 MMP1
31
Show member pathways
11.6 TGFB1 SOS1 MYC MMP2
32 11.53 TGFB1 SOS1 CCN2
33 11.53 TGFB1 SOS1 MYC MMP1
34 11.52 TIMP1 TGFB1 MMP2 EDN1 CCN2
35 11.5 MMP2 FN1 CCN2
36 11.39 TIMP2 MMP3 MMP1
37 11.3 TGFB1 MMP2 ITGA2 FN1
38
Show member pathways
11.25 TIMP1 SOS1 EDN1
39 11.22 TIMP2 TIMP1 MMP3 MMP2 MMP1 FN1
40 11.22 TIMP1 TGFB1 MYC MMP3 MMP2 MMP1
41
Show member pathways
11.17 SOS1 MMP3 EDN1
42 11.11 SOS1 ITGA2 FN1
43 11 TIMP2 TIMP1 TGFB1 ITGA2 FN1 CCN2

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 region GO:0005576 9.97 TIMP2 TIMP1 TGFB1 MMP3 MMP2 MMP1
2 extracellular space GO:0005615 9.81 TIMP2 TIMP1 TGFB1 SERPINH1 MMP3 MMP2
3 platelet alpha granule lumen GO:0031093 9.43 TIMP1 TGFB1 FN1
4 collagen-containing extracellular matrix GO:0062023 9.43 TIMP2 TGFB1 SERPINH1 MMP2 FN1 CCN2
5 basal part of cell GO:0045178 9.37 ITGA2 EDN1
6 extracellular matrix GO:0031012 9.23 TIMP2 TIMP1 TGFB1 MMP3 MMP2 MMP1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 TIMP1 TGFB1 MYC FN1 EDN1 CCN2
2 cellular protein metabolic process GO:0044267 9.94 TIMP1 MMP2 MMP1 FN1
3 leukocyte migration GO:0050900 9.92 TGFB1 SOS1 MMP1 FN1
4 response to drug GO:0042493 9.92 TIMP2 TGFB1 MYC ITGA2 EDN1
5 aging GO:0007568 9.9 TIMP2 TIMP1 TGFB1 CCN2
6 negative regulation of gene expression GO:0010629 9.89 TGFB1 REST MYC EDN1 CCN2
7 extracellular matrix organization GO:0030198 9.85 MMP3 MMP2 MMP1 ITGA2 FN1
8 cell-matrix adhesion GO:0007160 9.83 ITGA2 FN1 CCN2
9 response to organic substance GO:0010033 9.83 TIMP2 TIMP1 TGFB1
10 cellular response to organic cyclic compound GO:0071407 9.81 TGFB1 MYC ITGA2
11 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.79 REST MYC CCN2
12 positive regulation of protein complex assembly GO:0031334 9.78 TGFB1 MMP3 MMP1
13 positive regulation of fibroblast proliferation GO:0048146 9.76 TGFB1 MYC FN1
14 collagen catabolic process GO:0030574 9.72 MMP3 MMP2 MMP1
15 wound healing GO:0042060 9.71 TIMP1 TGFB1 ITGA2 FN1
16 negative regulation of mitotic cell cycle GO:0045930 9.69 TIMP2 TGFB1 CDKN1C
17 response to wounding GO:0009611 9.67 TGFB1 MYC FN1 CCN2
18 response to amyloid-beta GO:1904645 9.66 MMP3 MMP2
19 cell activation GO:0001775 9.65 TIMP1 TGFB1
20 response to hypoxia GO:0001666 9.65 TGFB1 REST MMP2 ITGA2 EDN1
21 positive regulation of cardiac muscle contraction GO:0060452 9.64 KCNQ1 CCN2
22 negative regulation of metallopeptidase activity GO:1905049 9.63 TIMP2 TIMP1
23 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.62 TIMP2 TIMP1
24 cellular response to drug GO:0035690 9.62 REST MYC KCNQ1 EDN1
25 positive regulation of collagen biosynthetic process GO:0032967 9.61 TGFB1 ITGA2 CCN2
26 regulation of T cell differentiation in thymus GO:0033081 9.59 SOS1 CAMK4
27 response to salt GO:1902074 9.58 TGFB1 EDN1
28 connective tissue development GO:0061448 9.57 TGFB1 CCN2
29 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.56 TIMP1 TGFB1
30 positive regulation of odontogenesis GO:0042482 9.54 TGFB1 EDN1
31 positive regulation of smooth muscle cell proliferation GO:0048661 9.46 MYC MMP2 ITGA2 EDN1
32 extracellular matrix disassembly GO:0022617 9.35 TIMP2 TIMP1 MMP3 MMP2 MMP1
33 cytokine-mediated signaling pathway GO:0019221 9.23 TIMP1 TGFB1 SOS1 MYC MMP3 MMP2

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.33 MMP3 MMP2 MMP1
2 collagen binding GO:0005518 9.13 SERPINH1 ITGA2 FN1
3 integrin binding GO:0005178 8.92 TIMP2 ITGA2 FN1 CCN2

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 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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