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 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
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 zimmermann-laband syndrome 1 and fibromatosis, gingival, 1. 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 heart, tongue and bone, 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 165)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 34.5 KCNH1 ATP6V1B2
2 fibromatosis, gingival, 1 34.4 TGFB1 SOS1 SERPINH1 MMP2 MMP1
3 zimmermann-laband syndrome 34.1 KCNH1 ATP6V1B2
4 fibromatosis 32.7 SOS1 REST GINGF3
5 gingival overgrowth 31.2 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
6 periodontitis 31.2 TIMP1 MMP3 MMP2 MMP1
7 gingival hypertrophy 31.1 TIMP2 SOS1 MMP3
8 gingival disease 30.6 TIMP1 SOS1 MMP1 FN1
9 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.6
10 fibromatosis, gingival, with progressive deafness 12.5
11 fibromatosis, gingival, 2 12.4
12 fibromatosis, gingival, 4 12.4
13 ramon syndrome 12.4
14 fibromatosis, gingival, 5 12.2
15 amelogenesis imperfecta, type ig 12.1
16 fibromatosis, gingival, with distinctive facies 12.0
17 fibromatosis, gingival, 3 12.0
18 oculocerebral syndrome with hypopigmentation 11.7
19 rutherfurd syndrome 11.7
20 zimmermann-laband syndrome 2 11.4
21 overgrowth syndrome 10.8
22 hypertrichosis 10.6
23 superior limbic keratoconjunctivitis 10.6 MMP3 MMP1
24 keloid disorder 10.5 TGFB1 SERPINH1
25 venous insufficiency 10.5 TIMP1 TGFB1 MMP1
26 tendinopathy 10.5 MMP3 MMP1
27 hypertrophic scars 10.5 TIMP1 TGFB1 MMP2
28 nephrogenic systemic fibrosis 10.5 TIMP1 TGFB1 CCN2
29 tendinosis 10.5 TIMP1 MMP3 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 kidney hypertrophy 10.5 TGFB1 FN1 CCN2
34 bone deterioration disease 10.4 TIMP1 MMP3 MMP1
35 dupuytren contracture 10.4 TIMP2 TGFB1 SERPINH1
36 systolic heart failure 10.4 TIMP1 MMP2 MMP1
37 light chain deposition disease 10.4 MMP2 MMP1
38 frozen shoulder 10.4 TGFB1 MMP3 MMP2
39 diffuse pulmonary fibrosis 10.4 SERPINH1 FN1
40 localized scleroderma 10.4 TGFB1 MMP1 CCN2
41 aggressive periodontitis 10.4
42 diastolic heart failure 10.4 MMP2 MMP1 CCN2
43 fungal keratitis 10.4 TIMP2 TIMP1
44 vitreous disease 10.4 MMP2 FN1 CCN2
45 corneal edema 10.4 MMP3 MMP1 FN1
46 ureteral disease 10.4 TGFB1 FN1 CCN2
47 carotid artery disease 10.4 TIMP1 MMP3 MMP1
48 pulmonary fibrosis 10.4 TIMP1 TGFB1 MMP2 CCN2
49 chronic ulcer of skin 10.4 TIMP2 MMP1 FN1
50 urinary tract obstruction 10.4 TGFB1 FN1 CCN2

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 9.5 CAMK4 ITGA2 MMP2 SOS1 TGFB1 TIMP1
2 shRNA abundance <= 50% GR00343-S 9.32 CAMK4 KCNH1 KCNQ1 MMP2 MMP3 REST

MGI Mouse Phenotypes related to Gingival Fibromatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CCN2 FN1 KCNQ1 MMP2 REST SERPINH1
2 nervous system MP:0003631 9.73 ATP6V1B2 CAMK4 FN1 KCNH1 KCNQ1 MMP2
3 skeleton MP:0005390 9.28 CAMK4 CCN2 FN1 MMP2 MMP3 SERPINH1

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:

40
Heart, Tongue, Bone, Salivary Gland, Skin, Testes, Pituitary

Publications for Gingival Fibromatosis

Articles related to Gingival Fibromatosis:

(show top 50) (show all 348)
# Title Authors PMID Year
1
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 61 6
11868160 2002
2
[Hereditary gingival fibromatosis: a three-generation case report]. 61
32037776 2020
3
Generalized hereditary gingival fibromatosis in a child: clinical, histopathological and therapeutic aspects. 61
32039068 2020
4
Gingival fibromatosis with congenital hypertrichosis. 61
31983850 2020
5
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
6
Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis. 61
31323181 2019
7
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. 61
30907493 2019
8
Ramon Syndrome- A Rare Form of Cherubism. 61
31909027 2019
9
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
10
Zimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis. 61
31261938 2019
11
Fibroblasts Collagen Production and Histological Alterations in Hereditary Gingival Fibromatosis. 61
31130610 2019
12
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 61
31275518 2019
13
Rare case report of idiopathic gingival fibromatosis in childhood and its management. 61
30674497 2019
14
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
15
Towards the targeted management of hereditary gingival fibromatosis. 61
30396478 2018
16
TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis. 61
29989318 2018
17
Hereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up. 61
30510301 2018
18
Nonsyndromic Gingival Fibromatosis: A Rare Case Report. 61
30131651 2018
19
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. 61
29703730 2018
20
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1. 61
29325232 2018
21
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. 61
29435271 2018
22
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 61
29439260 2018
23
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome. 61
29740400 2018
24
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
25
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 61
29097701 2017
26
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. 61
28425619 2017
27
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. 61
29026519 2017
28
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 61
28650561 2017
29
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients. 61
28433619 2017
30
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 61
28836540 2017
31
Periodontal disease and FAM20A mutations. 61
28298625 2017
32
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 61
28686854 2017
33
Hereditary gingival fibromatosis: Characteristics and treatment approach. 61
28469831 2017
34
Unusual presentation of familial gingival fibromatosis among male siblings. 61
29398861 2017
35
Giant maxillary gingival fibromatosis. 61
27791424 2017
36
On the Cellular and Molecular Mechanisms of Drug-Induced Gingival Overgrowth. 61
28868093 2017
37
FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? 61
28515694 2017
38
Decreased Alpha 2 integrin gene expression in non-familial gingival fibromatosis: a report of two cases. 61
31966593 2017
39
Modeling RASopathies with Genetically Modified Mouse Models. 61
27924582 2017
40
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. 61
27614106 2017
41
The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report. 61
30512259 2016
42
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. 61
28171221 2016
43
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. 61
27994842 2016
44
Gingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence. 61
27609299 2016
45
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. 61
26873770 2016
46
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. 61
27260277 2016
47
Idiopathic Gingival Fibromatosis: Case Report and Review of the Literature. 61
27043333 2016
48
Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth. 61
27281036 2016
49
Genomic analysis of gum disease and hypertrichosis in foxes. 61
27323055 2016
50
Ambras syndrome: A rare case report. 61
27080973 2016

Variations for Gingival Fibromatosis

ClinVar genetic disease variations for Gingival Fibromatosis:

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOS1 NM_005633.3(SOS1):c.*4C>TSNV Conflicting interpretations of pathogenicity 177950 rs188849286 2:39212961-39212961 2:38985820-38985820
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.2673+14T>CSNV Conflicting interpretations of pathogenicity 45353 rs183998234 2:39234158-39234158 2:39007017-39007017
4 SOS1 NM_005633.3(SOS1):c.899G>A (p.Arg300Gln)SNV Conflicting interpretations of pathogenicity 336021 rs754374236 2:39262607-39262607 2:39035466-39035466
5 SOS1 NM_005633.3(SOS1):c.865-4T>CSNV Uncertain significance 336022 rs750788947 2:39262645-39262645 2:39035504-39035504
6 SOS1 NM_005633.3(SOS1):c.*4221C>TSNV Uncertain significance 335964 rs565544523 2:39208744-39208744 2:38981603-38981603
7 SOS1 NM_005633.3(SOS1):c.*1678C>ASNV Uncertain significance 335991 rs886056013 2:39211287-39211287 2:38984146-38984146
8 SOS1 NM_005633.3(SOS1):c.*1516G>ASNV Uncertain significance 335994 rs550823381 2:39211449-39211449 2:38984308-38984308
9 SOS1 NM_005633.3(SOS1):c.*1224A>GSNV Uncertain significance 335999 rs886056015 2:39211741-39211741 2:38984600-38984600
10 SOS1 NM_005633.3(SOS1):c.*855G>ASNV Uncertain significance 336002 rs886056017 2:39212110-39212110 2:38984969-38984969
11 SOS1 NM_005633.3(SOS1):c.*758A>TSNV Uncertain significance 336005 rs182650589 2:39212207-39212207 2:38985066-38985066
12 SOS1 NM_005633.3(SOS1):c.*642T>CSNV Uncertain significance 336007 rs886056019 2:39212323-39212323 2:38985182-38985182
13 SOS1 NM_005633.3(SOS1):c.*2208dupduplication Uncertain significance 335984 rs886056010 2:39210756-39210757 2:38983615-38983616
14 SOS1 NM_005633.3(SOS1):c.*1589T>GSNV Uncertain significance 335992 rs886056014 2:39211376-39211376 2:38984235-38984235
15 SOS1 NM_005633.3(SOS1):c.*1309A>GSNV Uncertain significance 335997 rs145273962 2:39211656-39211656 2:38984515-38984515
16 SOS1 NM_005633.3(SOS1):c.*1303C>ASNV Uncertain significance 335998 rs115153488 2:39211662-39211662 2:38984521-38984521
17 SOS1 NM_005633.3(SOS1):c.*766deldeletion Uncertain significance 336004 rs533720751 2:39212199-39212199 2:38985058-38985058
18 SOS1 NM_005633.3(SOS1):c.*298C>GSNV Uncertain significance 336012 rs886056021 2:39212667-39212667 2:38985526-38985526
19 SOS1 NM_005633.3(SOS1):c.*223C>TSNV Uncertain significance 336013 rs886056022 2:39212742-39212742 2:38985601-38985601
20 SOS1 NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala)SNV Uncertain significance 336015 rs371408734 2:39213258-39213258 2:38986117-38986117
21 SOS1 NM_005633.3(SOS1):c.1659G>A (p.Met553Ile)SNV Uncertain significance 336020 rs886056025 2:39249910-39249910 2:39022769-39022769
22 SOS1 NM_005633.3(SOS1):c.*2983C>TSNV Uncertain significance 335978 rs190454003 2:39209982-39209982 2:38982841-38982841
23 SOS1 NM_005633.3(SOS1):c.*4265A>GSNV Uncertain significance 335963 rs377303107 2:39208700-39208700 2:38981559-38981559
24 SOS1 NM_005633.3(SOS1):c.*3725T>CSNV Uncertain significance 335969 rs72799430 2:39209240-39209240 2:38982099-38982099
25 SOS1 NM_005633.3(SOS1):c.1720G>A (p.Val574Ile)SNV Uncertain significance 179117 rs727504641 2:39249849-39249849 2:39022708-39022708
26 SOS1 NM_005633.3(SOS1):c.587C>T (p.Ser196Leu)SNV Uncertain significance 229263 rs199898869 2:39281888-39281888 2:39054747-39054747
27 SOS1 NM_005633.3(SOS1):c.3624T>C (p.Pro1208=)SNV Uncertain significance 336016 rs763107563 2:39213343-39213343 2:38986202-38986202
28 SOS1 NM_005633.3(SOS1):c.2121T>C (p.Asp707=)SNV Uncertain significance 336019 rs571408451 2:39240647-39240647 2:39013506-39013506
29 SOS1 NM_005633.3(SOS1):c.*4110C>ASNV Uncertain significance 335965 rs886056003 2:39208855-39208855 2:38981714-38981714
30 SOS1 NM_005633.3(SOS1):c.*4023T>CSNV Uncertain significance 335966 rs1043800 2:39208942-39208942 2:38981801-38981801
31 SOS1 NM_005633.3(SOS1):c.*3727G>CSNV Uncertain significance 335968 rs886056004 2:39209238-39209238 2:38982097-38982097
32 SOS1 NM_005633.3(SOS1):c.*3566_*3568deldeletion Uncertain significance 335972 rs886056005 2:39209397-39209399 2:38982256-38982258
33 SOS1 NM_005633.3(SOS1):c.*3463A>GSNV Uncertain significance 335974 rs886056006 2:39209502-39209502 2:38982361-38982361
34 SOS1 NM_005633.3(SOS1):c.*3451A>TSNV Uncertain significance 335975 rs78411167 2:39209514-39209514 2:38982373-38982373
35 SOS1 NM_005633.3(SOS1):c.*2497G>ASNV Uncertain significance 335981 rs886056008 2:39210468-39210468 2:38983327-38983327
36 SOS1 NM_005633.3(SOS1):c.*2063_*2066dupduplication Uncertain significance 335985 rs886056011 2:39210898-39210899 2:38983757-38983758
37 SOS1 NM_005633.3(SOS1):c.*1694deldeletion Uncertain significance 335989 rs767903412 2:39211271-39211271 2:38984130-38984130
38 SOS1 NM_005633.3(SOS1):c.*696G>ASNV Uncertain significance 336006 rs886056018 2:39212269-39212269 2:38985128-38985128
39 SOS1 NM_005633.3(SOS1):c.*544C>TSNV Uncertain significance 336008 rs886056020 2:39212421-39212421 2:38985280-38985280
40 SOS1 NM_005633.3(SOS1):c.*534C>TSNV Uncertain significance 336009 rs773935049 2:39212431-39212431 2:38985290-38985290
41 SOS1 NM_005633.3(SOS1):c.*3416_*3417deldeletion Uncertain significance 335976 rs200892895 2:39209548-39209549 2:38982407-38982408
42 SOS1 NM_005633.3(SOS1):c.*3189_*3192deldeletion Uncertain significance 335977 rs572584074 2:39209773-39209776 2:38982632-38982635
43 SOS1 NM_005633.3(SOS1):c.*2503_*2506dupduplication Uncertain significance 335980 rs886056007 2:39210458-39210459 2:38983317-38983318
44 SOS1 NM_005633.3(SOS1):c.*2048_*2050dupduplication Uncertain significance 335986 rs761591990 2:39210914-39210915 2:38983773-38983774
45 SOS1 NM_005633.3(SOS1):c.*1684G>CSNV Uncertain significance 335990 rs886056012 2:39211281-39211281 2:38984140-38984140
46 SOS1 NM_005633.3(SOS1):c.*1552T>ASNV Uncertain significance 335993 rs139679723 2:39211413-39211413 2:38984272-38984272
47 SOS1 NM_005633.3(SOS1):c.*1385A>GSNV Uncertain significance 335995 rs868000333 2:39211580-39211580 2:38984439-38984439
48 SOS1 NM_005633.3(SOS1):c.*1094_*1097delTTTGshort repeat Uncertain significance 336000 rs886056016 2:39211868-39211871 2:38984727-38984730
49 SOS1 NM_005633.3(SOS1):c.*909G>ASNV Uncertain significance 336001 rs147219108 2:39212056-39212056 2:38984915-38984915
50 SOS1 NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala)SNV Uncertain significance 336014 rs886056023 2:39213174-39213174 2:38986033-38986033

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 TIMP2 TIMP1 TGFB1 SOS1 MMP3 MMP2
2
Show member pathways
13.32 TGFB1 SOS1 MMP3 MMP2 MMP1 ITGA2
3
Show member pathways
13.29 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
4
Show member pathways
12.93 TIMP2 TIMP1 TGFB1 SOS1 ITGA2 FN1
5 12.76 TGFB1 SOS1 MMP2 MMP1 ITGA2 FN1
6
Show member pathways
12.32 TIMP2 TIMP1 TGFB1 SOS1 ITGA2 CCN2
7
Show member pathways
12.26 TIMP2 TIMP1 TGFB1 SERPINH1 MMP3 MMP2
8 12.2 TGFB1 SOS1 MMP2 ITGA2 FN1
9
Show member pathways
12.17 TGFB1 SOS1 MMP1 FN1
10
Show member pathways
12.14 TIMP1 SOS1 MMP3 MMP1
11 12.12 TGFB1 SOS1 MMP2 MMP1
12 11.93 TGFB1 SOS1 MMP1 ITGA2 FN1
13 11.81 TGFB1 MMP2 FN1
14 11.78 TGFB1 MMP3 MMP1 ATP6V1B2
15
Show member pathways
11.72 TIMP2 TIMP1 MMP3 MMP2 MMP1
16 11.69 TIMP1 TGFB1 MMP3 MMP2 MMP1 FN1
17 11.62 TGFB1 SERPINH1 CDKN1C
18 11.62 TIMP2 TIMP1 TGFB1 SOS1 ITGA2 CCN2
19
Show member pathways
11.6 MMP3 MMP2 MMP1
20 11.6 TIMP2 TIMP1 TGFB1 MMP3 MMP2
21 11.58 TIMP1 TGFB1 MMP2 CCN2
22 11.49 TGFB1 SOS1 CCN2
23 11.49 TGFB1 SOS1 MMP1
24 11.45 MMP2 FN1 CCN2
25 11.34 TIMP2 MMP3 MMP1
26 11.19 TGFB1 MMP2 ITGA2 FN1
27 11.06 SOS1 ITGA2 FN1
28 10.95 TIMP2 TIMP1 TGFB1 ITGA2 FN1 CCN2
29 10.89 TIMP2 TIMP1 MMP3 MMP2 MMP1 FN1
30 10.88 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 9.86 TIMP2 TIMP1 TGFB1 SERPINH1 MMP3 MMP2
2 collagen-containing extracellular matrix GO:0062023 9.43 TIMP2 TGFB1 SERPINH1 MMP2 FN1 CCN2
3 platelet alpha granule lumen GO:0031093 9.33 TIMP1 TGFB1 FN1
4 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 23)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.87 TIMP1 MMP2 MMP1 FN1
2 leukocyte migration GO:0050900 9.85 TGFB1 SOS1 MMP1 FN1
3 response to hypoxia GO:0001666 9.83 TGFB1 REST MMP2 ITGA2
4 cell-matrix adhesion GO:0007160 9.78 ITGA2 FN1 CCN2
5 response to organic substance GO:0010033 9.77 TIMP2 TIMP1 TGFB1
6 response to wounding GO:0009611 9.75 TGFB1 FN1 CCN2
7 extracellular matrix organization GO:0030198 9.65 MMP3 MMP2 MMP1 ITGA2 FN1
8 collagen catabolic process GO:0030574 9.63 MMP3 MMP2 MMP1
9 wound healing GO:0042060 9.62 TIMP1 TGFB1 ITGA2 FN1
10 response to amyloid-beta GO:1904645 9.61 MMP3 MMP2
11 positive regulation of protein complex assembly GO:0031334 9.61 TGFB1 MMP3 MMP1
12 cell activation GO:0001775 9.59 TIMP1 TGFB1
13 positive regulation of cardiac muscle contraction GO:0060452 9.58 KCNQ1 CCN2
14 negative regulation of mitotic cell cycle GO:0045930 9.58 TIMP2 TGFB1 CDKN1C
15 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.56 TIMP2 TIMP1
16 aging GO:0007568 9.55 TIMP2 TIMP1 TGFB1 CDKN1C CCN2
17 regulation of T cell differentiation in thymus GO:0033081 9.54 SOS1 CAMK4
18 positive regulation of collagen biosynthetic process GO:0032967 9.54 TGFB1 ITGA2 CCN2
19 negative regulation of metallopeptidase activity GO:1905049 9.51 TIMP2 TIMP1
20 cytokine-mediated signaling pathway GO:0019221 9.5 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
21 connective tissue development GO:0061448 9.49 TGFB1 CCN2
22 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.48 TIMP1 TGFB1
23 extracellular matrix disassembly GO:0022617 9.02 TIMP2 TIMP1 MMP3 MMP2 MMP1

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.43 TIMP2 TIMP1 FN1
2 metalloendopeptidase activity GO:0004222 9.33 MMP3 MMP2 MMP1
3 metalloendopeptidase inhibitor activity GO:0008191 9.32 TIMP2 TIMP1
4 collagen binding GO:0005518 9.13 SERPINH1 ITGA2 FN1
5 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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