MCID: GNG025
MIFTS: 48

Gingival Fibromatosis

Categories: Oral diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Gingival Fibromatosis

MalaCards integrated aliases for Gingival Fibromatosis:

Name: Gingival Fibromatosis 12 29 6 15
Hereditary Gingival Fibromatosis 12 59 73
Hereditary Gingival Hyperplasia 12 59
Fibromatosis, Gingival 13 40
Autosomal Dominant Gingival Fibromatosis 59
Autosomal Dominant Gingival Hyperplasia 59
Fibromatosis, Gingival, Type 1 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
SNOMED-CT 68 109620006
Orphanet 59 ORPHA2024
ICD10 via Orphanet 34 K06.1
UMLS via Orphanet 74 C0399440
UMLS 73 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 channel blockers have been mentioned in the context of this disorder. Affiliated tissues include pituitary, tongue and testes, and related phenotypes are gingival fibromatosis and gingival overgrowth

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 73)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 34.1 ATP6V1B2 KCNH1
2 zimmermann-laband syndrome 32.9 ATP6V1B2 KCNH1
3 fibromatosis, gingival, 1 32.6 CD36 MMP1 MMP2 SERPINH1 SOS1 TGFB1
4 periodontitis 29.8 MMP1 MMP2 MMP3 TIMP1
5 rheumatoid arthritis 28.2 MMP1 MMP3 SERPINH1 TGFB1 TIMP1
6 gingival overgrowth 27.2 CD36 CTGF ITGA2 MMP1 MMP3 TGFB1
7 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.2
8 fibromatosis, gingival, with progressive deafness 12.2
9 fibromatosis, gingival, 2 11.9
10 fibromatosis, gingival, 4 11.9
11 ramon syndrome 11.7
12 fibromatosis, gingival, 5 11.7
13 fibromatosis, gingival, with distinctive facies 11.6
14 amelogenesis imperfecta, type ig 11.5
15 fibromatosis, gingival, 3 11.3
16 rutherfurd syndrome 11.1
17 oculocerebral syndrome with hypopigmentation 11.1
18 zimmermann-laband syndrome 2 11.1
19 gingivitis 10.9
20 fibromatosis 10.9
21 keloids 10.4 CD36 MMP1 TGFB1
22 diabetic foot ulcers 10.4 TGFB1 TIMP1
23 hypertrichosis 10.4
24 odontogenic myxoma 10.4 CD36 MMP1 MMP2
25 hypertensive heart disease 10.3 CD36 MMP1 MMP2
26 aggressive periodontitis 10.3
27 superior limbic keratoconjunctivitis 10.3 MMP1 MMP3
28 localized scleroderma 10.2 CTGF MMP1 TGFB1
29 oral submucous fibrosis 10.2 MMP2 TGFB1 TIMP1
30 nephrogenic systemic fibrosis 10.2 CTGF TGFB1 TIMP1
31 inguinal hernia 10.1 MMP1 MMP2 TIMP1
32 cherubism 10.1
33 epilepsy 10.1
34 vitreoretinopathy, neovascular inflammatory 10.1 CTGF TGFB1 TIMP1
35 renal fibrosis 10.1 CD36 CTGF TGFB1
36 biliary atresia 10.1 CTGF TGFB1 TIMP1
37 internal hemorrhoid 10.1 MMP1 MMP2
38 hypertrophic scars 10.1 CD36 MMP2 TGFB1 TIMP1
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
40 amelogenesis imperfecta 10.0
41 ocular cicatricial pemphigoid 10.0 CD36 CTGF SERPINH1 TGFB1
42 spastic entropion 9.9 MMP1 MMP2 MMP3
43 tendinosis 9.9 MMP1 MMP3 TIMP1
44 bone deterioration disease 9.9 MMP1 MMP3 TIMP1
45 adenomyosis 9.9 MMP1 MMP2 MMP3
46 sorsby fundus dystrophy 9.9 MMP2 MMP3 TIMP1
47 prune belly syndrome 9.8
48 hemophilia b 9.8
49 mucopolysaccharidosis, type ii 9.8
50 arthritis 9.8

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 fibromatosis 59 Very frequent (99-80%)
2 gingival overgrowth 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 10.02 SERPINH1 SOS1 TGFB1 TIMP1 ABCA5 CD36
2 endocrine/exocrine gland MP:0005379 9.96 ABCA5 ATP6V1B2 CAMK4 CD36 CTGF ITGA2
3 hematopoietic system MP:0005397 9.85 MMP2 MMP3 REST SOS1 TGFB1 TIMP1
4 homeostasis/metabolism MP:0005376 9.73 ABCA5 CAMK4 CD36 CTGF ITGA2 KCNQ1
5 skeleton MP:0005390 9.28 CAMK4 CD36 CTGF 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 channel blockers
3 Calcium, Dietary
4 Cyclosporins

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, type 1

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
Pituitary, Tongue, Testes

Publications for Gingival Fibromatosis

Articles related to Gingival Fibromatosis:

(show top 50) (show all 139)
# Title Authors Year
1
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-I^1. ( 29325232 )
2018
2
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. ( 29435271 )
2018
3
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. ( 29026519 )
2017
4
Hereditary gingival fibromatosis: Characteristics and treatment approach. ( 28469831 )
2017
5
Unusual presentation of familial gingival fibromatosis among male siblings. ( 29398861 )
2017
6
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )
2017
7
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. ( 28686854 )
2017
8
The Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis. ( 28937892 )
2017
9
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. ( 29097701 )
2017
10
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. ( 28425619 )
2017
11
Giant maxillary gingival fibromatosis. ( 27791424 )
2016
12
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. ( 28171221 )
2016
13
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. ( 26873770 )
2016
14
Gingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence. ( 27609299 )
2016
15
Gingival fibromatosis: clinical, molecular and therapeutic issues. ( 26818898 )
2016
16
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. ( 27614106 )
2016
17
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. ( 27260277 )
2016
18
Idiopathic Gingival Fibromatosis: Case Report and Review of the Literature. ( 27043333 )
2016
19
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. ( 27994842 )
2016
20
Idiopathic gingival fibromatosis with asymmetrical presentation and electrosurgical management. ( 27041849 )
2016
21
Gingival fibromatosis: a case report. ( 26418928 )
2015
22
Recurrent idiopathic gingival fibromatosis with generalized aggressive periodontitis: A rare case report. ( 26941507 )
2015
23
Gingival Fibromatosis with Distinctive Facies - A Three Generation Case Report. ( 26155576 )
2015
24
Management of hereditary gingival fibromatosis: A 2 years follow-up case report. ( 26229281 )
2015
25
Resection of Gingival Fibromatosis with High-power Laser. ( 25909843 )
2015
26
RARE CASE OF IDIOPATHIC GINGIVAL FIBROMATOSIS AFFECTING PRIMARY DENTITION. ( 27004356 )
2015
27
Recurrent idiopathic gingival fibromatosis with generalized aggressive periodontitis: A rare case report. ( 25810601 )
2015
28
Idiopathic gingival fibromatosis. ( 26941525 )
2015
29
Hereditary gingival fibromatosis: clinical and ultrastructural features of a new family. ( 25475776 )
2015
30
Author's Reply: Recurrent idiopathic gingival fibromatosis with generalized aggressive periodontitis: A rare case report. ( 26941508 )
2015
31
Hereditary gingival fibromatosis and its management: 2-year follow-up. ( 25395783 )
2014
32
In vitro testing the potential of a novel chimeric IgG variant for inhibiting collagen fibrils formation in recurrent hereditary gingival fibromatosis: chimeric antibody in a gingival model. ( 25179091 )
2014
33
Hereditary gingival fibromatosis. ( 25298717 )
2014
34
Non-syndromic hereditary gingival fibromatosis in three Chinese families is not due to SOS1 gene mutations. ( 25062969 )
2014
35
Complete oral rehabilitation of a patient with hereditary gingival fibromatosis: A clinical report. ( 25277031 )
2014
36
Idiopathic gingival fibromatosis associated with progressive hearing loss: A nonfamilial variant of Jones syndrome. ( 24963260 )
2014
37
Immunoexpression of I+2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities. ( 23229240 )
2013
38
Bimaxillary unilateral gingival fibromatosis with localized aggressive periodontitis (eating the tooth at the same table). ( 24124307 )
2013
39
Unusual gingival fibromatosis with aggressive periodontitis. ( 23518779 )
2013
40
Hereditary gingival fibromatosis: a review and a report of a rare case. ( 23533834 )
2013
41
A rare case of isolated idiopathic gingival fibromatosis. ( 23852249 )
2013
42
An unusual case of idiopathic gingival fibromatosis. ( 23853465 )
2013
43
Hereditary nonsyndromic gingival fibromatosis: report of family case series. ( 24191204 )
2013
44
Non-syndromic hereditary gingival fibromatosis. ( 24031070 )
2013
45
Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis. ( 22849749 )
2013
46
The autosomal recessive inheritance of hereditary gingival fibromatosis. ( 24416600 )
2013
47
Amelogenesis imperfecta and generalized gingival overgrowth resembling hereditary gingival fibromatosis in siblings: a case report. ( 23091740 )
2012
48
Gingival fibromatosis with multiple unusual findings: report of a rare case. ( 22955199 )
2012
49
Surgical and prosthetic treatment in an elderly patient affected by unilateral idiopathic gingival fibromatosis: a case report. ( 22612835 )
2012
50
Gummy smile: could it be genetic? Hereditary gingival fibromatosis. ( 23346694 )
2012

Variations for Gingival Fibromatosis

ClinVar genetic disease variations for Gingival Fibromatosis:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOS1 NM_005633.3(SOS1): c.*4C> T (p.Gln2Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs188849286 GRCh37 Chromosome 2, 39212961: 39212961
2 SOS1 NM_005633.3(SOS1): c.*4C> T (p.Gln2Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs188849286 GRCh38 Chromosome 2, 38985820: 38985820
3 SOS1 NM_005633.3(SOS1): c.1720G> A (p.Val574Ile) single nucleotide variant Uncertain significance rs727504641 GRCh37 Chromosome 2, 39249849: 39249849
4 SOS1 NM_005633.3(SOS1): c.1720G> A (p.Val574Ile) single nucleotide variant Uncertain significance rs727504641 GRCh38 Chromosome 2, 39022708: 39022708
5 SOS1 NM_005633.3(SOS1): c.*2244_*2245dupTA duplication Likely benign rs3832123 GRCh37 Chromosome 2, 39210720: 39210721
6 SOS1 NM_005633.3(SOS1): c.*2244_*2245dupTA duplication Likely benign rs3832123 GRCh38 Chromosome 2, 38983579: 38983580
7 SOS1 NM_005633.3(SOS1): c.*1606delT deletion Likely benign rs34248802 GRCh37 Chromosome 2, 39211359: 39211359
8 SOS1 NM_005633.3(SOS1): c.*1606delT deletion Likely benign rs34248802 GRCh38 Chromosome 2, 38984218: 38984218
9 SOS1 NM_005633.3(SOS1): c.587C> T (p.Ser196Leu) single nucleotide variant Uncertain significance rs199898869 GRCh37 Chromosome 2, 39281888: 39281888
10 SOS1 NM_005633.3(SOS1): c.587C> T (p.Ser196Leu) single nucleotide variant Uncertain significance rs199898869 GRCh38 Chromosome 2, 39054747: 39054747
11 SOS1 NM_005633.3(SOS1): c.*4265A> G single nucleotide variant Uncertain significance rs377303107 GRCh38 Chromosome 2, 38981559: 38981559
12 SOS1 NM_005633.3(SOS1): c.*4265A> G single nucleotide variant Uncertain significance rs377303107 GRCh37 Chromosome 2, 39208700: 39208700
13 SOS1 NM_005633.3(SOS1): c.*3725T> C single nucleotide variant Uncertain significance rs72799430 GRCh37 Chromosome 2, 39209240: 39209240
14 SOS1 NM_005633.3(SOS1): c.*3725T> C single nucleotide variant Uncertain significance rs72799430 GRCh38 Chromosome 2, 38982099: 38982099
15 SOS1 NM_005633.3(SOS1): c.*3724T> C single nucleotide variant Likely benign rs11124658 GRCh37 Chromosome 2, 39209241: 39209241
16 SOS1 NM_005633.3(SOS1): c.*3724T> C single nucleotide variant Likely benign rs11124658 GRCh38 Chromosome 2, 38982100: 38982100
17 SOS1 NM_005633.3(SOS1): c.*2983C> T single nucleotide variant Uncertain significance rs190454003 GRCh37 Chromosome 2, 39209982: 39209982
18 SOS1 NM_005633.3(SOS1): c.*2983C> T single nucleotide variant Uncertain significance rs190454003 GRCh38 Chromosome 2, 38982841: 38982841
19 SOS1 NM_005633.3(SOS1): c.*2439delA deletion Likely benign rs377250198 GRCh37 Chromosome 2, 39210526: 39210526
20 SOS1 NM_005633.3(SOS1): c.*2439delA deletion Likely benign rs377250198 GRCh38 Chromosome 2, 38983385: 38983385
21 SOS1 NM_005633.3(SOS1): c.*2208dupC duplication Uncertain significance rs886056010 GRCh37 Chromosome 2, 39210757: 39210757
22 SOS1 NM_005633.3(SOS1): c.*2208dupC duplication Uncertain significance rs886056010 GRCh38 Chromosome 2, 38983616: 38983616
23 SOS1 NM_005633.3(SOS1): c.*1589T> G single nucleotide variant Uncertain significance rs886056014 GRCh38 Chromosome 2, 38984235: 38984235
24 SOS1 NM_005633.3(SOS1): c.*1589T> G single nucleotide variant Uncertain significance rs886056014 GRCh37 Chromosome 2, 39211376: 39211376
25 SOS1 NM_005633.3(SOS1): c.*1333_*1336dupAAGT duplication Likely benign rs35969619 GRCh38 Chromosome 2, 38984488: 38984491
26 SOS1 NM_005633.3(SOS1): c.*1333_*1336dupAAGT duplication Likely benign rs35969619 GRCh37 Chromosome 2, 39211629: 39211632
27 SOS1 NM_005633.3(SOS1): c.*1309A> G single nucleotide variant Uncertain significance rs145273962 GRCh38 Chromosome 2, 38984515: 38984515
28 SOS1 NM_005633.3(SOS1): c.*1309A> G single nucleotide variant Uncertain significance rs145273962 GRCh37 Chromosome 2, 39211656: 39211656
29 SOS1 NM_005633.3(SOS1): c.*1303C> A single nucleotide variant Uncertain significance rs115153488 GRCh38 Chromosome 2, 38984521: 38984521
30 SOS1 NM_005633.3(SOS1): c.*1303C> A single nucleotide variant Uncertain significance rs115153488 GRCh37 Chromosome 2, 39211662: 39211662
31 SOS1 NM_005633.3(SOS1): c.*805C> A single nucleotide variant Likely benign rs1059313 GRCh38 Chromosome 2, 38985019: 38985019
32 SOS1 NM_005633.3(SOS1): c.*805C> A single nucleotide variant Likely benign rs1059313 GRCh37 Chromosome 2, 39212160: 39212160
33 SOS1 NM_005633.3(SOS1): c.*766delA deletion Uncertain significance rs533720751 GRCh38 Chromosome 2, 38985058: 38985058
34 SOS1 NM_005633.3(SOS1): c.*766delA deletion Uncertain significance rs533720751 GRCh37 Chromosome 2, 39212199: 39212199
35 SOS1 NM_005633.3(SOS1): c.*298C> G single nucleotide variant Uncertain significance rs886056021 GRCh37 Chromosome 2, 39212667: 39212667
36 SOS1 NM_005633.3(SOS1): c.*298C> G single nucleotide variant Uncertain significance rs886056021 GRCh38 Chromosome 2, 38985526: 38985526
37 SOS1 NM_005633.3(SOS1): c.*223C> T single nucleotide variant Uncertain significance rs886056022 GRCh37 Chromosome 2, 39212742: 39212742
38 SOS1 NM_005633.3(SOS1): c.*223C> T single nucleotide variant Uncertain significance rs886056022 GRCh38 Chromosome 2, 38985601: 38985601
39 SOS1 NM_005633.3(SOS1): c.3709C> G (p.Pro1237Ala) single nucleotide variant Uncertain significance rs371408734 GRCh37 Chromosome 2, 39213258: 39213258
40 SOS1 NM_005633.3(SOS1): c.3709C> G (p.Pro1237Ala) single nucleotide variant Uncertain significance rs371408734 GRCh38 Chromosome 2, 38986117: 38986117
41 SOS1 NM_005633.3(SOS1): c.1659G> A (p.Met553Ile) single nucleotide variant Uncertain significance rs886056025 GRCh37 Chromosome 2, 39249910: 39249910
42 SOS1 NM_005633.3(SOS1): c.1659G> A (p.Met553Ile) single nucleotide variant Uncertain significance rs886056025 GRCh38 Chromosome 2, 39022769: 39022769
43 SOS1 NM_005633.3(SOS1): c.899G> A (p.Arg300Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs754374236 GRCh37 Chromosome 2, 39262607: 39262607
44 SOS1 NM_005633.3(SOS1): c.899G> A (p.Arg300Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs754374236 GRCh38 Chromosome 2, 39035466: 39035466
45 SOS1 NM_005633.3(SOS1): c.865-4T> C single nucleotide variant Uncertain significance rs750788947 GRCh37 Chromosome 2, 39262645: 39262645
46 SOS1 NM_005633.3(SOS1): c.865-4T> C single nucleotide variant Uncertain significance rs750788947 GRCh38 Chromosome 2, 39035504: 39035504
47 SOS1 NM_005633.3(SOS1): c.*4221C> T single nucleotide variant Uncertain significance rs565544523 GRCh38 Chromosome 2, 38981603: 38981603
48 SOS1 NM_005633.3(SOS1): c.*4221C> T single nucleotide variant Uncertain significance rs565544523 GRCh37 Chromosome 2, 39208744: 39208744
49 SOS1 NM_005633.3(SOS1): c.*3539T> C single nucleotide variant Likely benign rs1037495 GRCh37 Chromosome 2, 39209426: 39209426
50 SOS1 NM_005633.3(SOS1): c.*3539T> C single nucleotide variant Likely benign rs1037495 GRCh38 Chromosome 2, 38982285: 38982285

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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 CAMK4 CTGF ITGA2 MMP1 MMP2 MMP3
2
Show member pathways
13.29 CD36 ITGA2 MMP1 MMP2 MMP3 SOS1
3
Show member pathways
13.25 CD36 MMP1 MMP2 MMP3 SOS1 TGFB1
4
Show member pathways
12.94 CAMK4 CTGF ITGA2 SOS1 TGFB1 TIMP1
5
Show member pathways
12.89 CAMK4 KCNQ1 MMP1 MMP2 SOS1 TGFB1
6 12.72 ITGA2 MMP1 MMP2 SOS1 TGFB1
7 12.16 ITGA2 MMP2 SOS1 TGFB1
8
Show member pathways
12.15 ITGA2 MMP1 MMP2 MMP3 SERPINH1 TGFB1
9
Show member pathways
12.03 MMP1 MMP3 SOS1 TIMP1
10 12.01 MMP1 MMP2 SOS1 TGFB1
11 11.88 ITGA2 MMP1 SOS1 TGFB1
12
Show member pathways
11.7 MMP1 MMP2 MMP3 TIMP1
13 11.62 ATP6V1B2 MMP1 MMP3 TGFB1
14 11.57 MMP2 MMP3 TGFB1 TIMP1
15 11.56 CDKN1C SERPINH1 TGFB1
16
Show member pathways
11.51 MMP1 MMP2 MMP3
17 11.41 MMP1 SOS1 TGFB1
18 11.39 CTGF SOS1 TGFB1
19 11.36 CTGF MMP2 TGFB1 TIMP1
20 11.24 MMP1 MMP2 MMP3 TIMP1
21 11.16 CD36 MMP1 MMP2 MMP3 TGFB1 TIMP1
22 11.13 ITGA2 MMP2 TGFB1
23 10.9 MMP1 TIMP1
24 10.84 MMP1 TGFB1

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 collagen trimer GO:0005581 9.13 CD36 SERPINH1 TIMP1
2 extracellular matrix GO:0031012 9.02 MMP1 MMP2 MMP3 TGFB1 TIMP1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.71 CD36 CTGF REST TGFB1
2 wound healing GO:0042060 9.63 ITGA2 TGFB1 TIMP1
3 myeloid dendritic cell differentiation GO:0043011 9.54 CAMK4 TGFB1
4 response to fatty acid GO:0070542 9.52 CD36 CTGF
5 cell activation GO:0001775 9.51 TGFB1 TIMP1
6 collagen catabolic process GO:0030574 9.5 MMP1 MMP2 MMP3
7 positive regulation of protein oligomerization GO:0032461 9.49 MMP1 MMP3
8 intestinal absorption GO:0050892 9.48 CD36 KCNQ1
9 positive regulation of cardiac muscle contraction GO:0060452 9.43 CTGF KCNQ1
10 positive regulation of phagocytosis, engulfment GO:0060100 9.37 CD36 ITGA2
11 positive regulation of collagen biosynthetic process GO:0032967 9.33 CTGF ITGA2 TGFB1
12 regulation of T cell differentiation in thymus GO:0033081 9.26 CAMK4 SOS1
13 extracellular matrix disassembly GO:0022617 9.26 MMP1 MMP2 MMP3 TIMP1
14 cytokine-mediated signaling pathway GO:0019221 9.17 CD36 MMP1 MMP2 MMP3 SOS1 TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.13 MMP1 MMP2 MMP3
2 outward rectifier potassium channel activity GO:0015271 8.62 KCNQ1 REST

Sources for Gingival Fibromatosis

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
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