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 30 6 15
Hereditary Gingival Fibromatosis 12 60 74
Hereditary Gingival Hyperplasia 12 60
Fibromatosis, Gingival 13 41
Autosomal Dominant Gingival Fibromatosis 60
Autosomal Dominant Gingival Hyperplasia 60
Fibromatosis, Gingival, Hereditary 45

Characteristics:

Orphanet epidemiological data:

60
hereditary gingival fibromatosis
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0060466
MeSH 45 C562884
ICD10 via Orphanet 35 K06.1
UMLS via Orphanet 75 C0399440
Orphanet 60 ORPHA2024
UMLS 74 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 tongue, testes and pituitary, 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 78)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 1 33.9 ATP6V1B2 KCNH1
2 fibromatosis, gingival, 1 33.3 MMP1 MMP2 SERPINH1 SOS1 TGFB1
3 zimmermann-laband syndrome 32.9 ATP6V1B2 KCNH1
4 periodontitis 30.0 MMP1 MMP2 MMP3 TIMP1
5 rheumatoid arthritis 29.1 MMP1 MMP3 SERPINH1 TGFB1 TIMP1
6 gingival overgrowth 28.6 ITGA2 MMP1 MMP2 MMP3 SOS1 TGFB1
7 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.4
8 fibromatosis, gingival, with progressive deafness 12.4
9 fibromatosis, gingival, with hypertrichosis and mental retardation 12.3
10 fibromatosis, gingival, 2 12.3
11 ramon syndrome 12.2
12 fibromatosis, gingival, 4 12.1
13 fibromatosis, gingival, 5 12.1
14 amelogenesis imperfecta, type ig 11.9
15 fibromatosis, gingival, with distinctive facies 11.8
16 fibromatosis, gingival, 3 11.8
17 rutherfurd syndrome 11.3
18 oculocerebral syndrome with hypopigmentation 11.3
19 zimmermann-laband syndrome 2 11.3
20 fibromatosis 11.1
21 hypertrichosis 10.5
22 aggressive periodontitis 10.4
23 cherubism 10.3
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
25 epilepsy 10.3
26 microcystic meningioma 10.1 MMP2 TIMP1
27 internal hemorrhoid 10.1 MMP1 MMP2
28 amelogenesis imperfecta 10.1
29 sensorineural hearing loss 10.1
30 growth hormone deficiency 10.1
31 light chain deposition disease 10.1 MMP1 MMP2
32 hypertrophic scars 10.1 MMP2 TGFB1 TIMP1
33 villous adenocarcinoma 10.1 FN1 MMP2
34 conjunctival nevus 10.1 MMP2 TIMP1
35 inguinal hernia 10.0 MMP1 MMP2 TIMP1
36 gingival disease 10.0 MMP1 SOS1 TGFB1 TIMP1
37 keratoconus 10.0 MMP1 MMP2 TIMP1
38 superior limbic keratoconjunctivitis 10.0 MMP1 MMP3
39 pulmonary disease, chronic obstructive 10.0 MMP1 TGFB1 TIMP1
40 prune belly syndrome 10.0
41 hypertelorism 10.0
42 hypertrichosis lanuginosa congenita 10.0
43 klippel-trenaunay-weber syndrome 10.0
44 teeth, supernumerary 10.0
45 hemophilia b 10.0
46 mucopolysaccharidosis, type ii 10.0
47 spondyloocular syndrome 10.0
48 arthritis 10.0
49 fibroma 10.0
50 fissured tongue 10.0

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:

60
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 60 Very frequent (99-80%)
2 gingival fibromatosis 60 Very frequent (99-80%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.43 CAMK4 ITGA2 MMP2 SOS1 TGFB1 TIMP1
2 shRNA abundance <= 50% GR00343-S 9.28 CAMK4 KCNH1 KCNQ1 MMP2 MMP3 REST

MGI Mouse Phenotypes related to Gingival Fibromatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 FN1 KCNQ1 MMP2 REST SERPINH1 SOS1
2 hematopoietic system MP:0005397 9.97 ATP6V1B2 CAMK4 FN1 ITGA2 MMP2 MMP3
3 homeostasis/metabolism MP:0005376 9.96 CAMK4 FN1 ITGA2 KCNQ1 MMP1 MMP2
4 immune system MP:0005387 9.81 ATP6V1B2 CAMK4 FN1 MMP1 MMP2 MMP3
5 nervous system MP:0003631 9.65 CAMK4 FN1 KCNH1 KCNQ1 MMP2 MMP3
6 skeleton MP:0005390 9.23 CAMK4 FN1 MMP2 MMP3 SERPINH1 SOS1

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 Calcium, Dietary
4 calcium channel blockers
5 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, hereditary

Genetic Tests for Gingival Fibromatosis

Genetic tests related to Gingival Fibromatosis:

# Genetic test Affiliating Genes
1 Gingival Fibromatosis 30

Anatomical Context for Gingival Fibromatosis

MalaCards organs/tissues related to Gingival Fibromatosis:

42
Tongue, Testes, Pituitary, Bone

Publications for Gingival Fibromatosis

Articles related to Gingival Fibromatosis:

(show top 50) (show all 219)
# Title Authors Year
1
Rare case report of idiopathic gingival fibromatosis in childhood and its management. ( 30674497 )
2019
2
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. ( 30907493 )
2019
3
Fibroblasts from recurrent fibrotic overgrowths reveal high rate of proliferation in vitro - findings from the study of hereditary and idiopathic gingival fibromatosis. ( 30231645 )
2019
4
Towards the targeted management of hereditary gingival fibromatosis. ( 30396478 )
2018
5
Hereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up. ( 30510301 )
2018
6
The Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis. ( 28937892 )
2018
7
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1. ( 29325232 )
2018
8
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. ( 29435271 )
2018
9
TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis. ( 29989318 )
2018
10
Nonsyndromic Gingival Fibromatosis: A Rare Case Report. ( 30131651 )
2018
11
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. ( 28686854 )
2017
12
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )
2017
13
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. ( 29026519 )
2017
14
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. ( 29097701 )
2017
15
Unusual presentation of familial gingival fibromatosis among male siblings. ( 29398861 )
2017
16
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. ( 27614106 )
2017
17
Giant maxillary gingival fibromatosis. ( 27791424 )
2017
18
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. ( 28425619 )
2017
19
Hereditary gingival fibromatosis: Characteristics and treatment approach. ( 28469831 )
2017
20
Gingival fibromatosis: clinical, molecular and therapeutic issues. ( 26818898 )
2016
21
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. ( 26873770 )
2016
22
Idiopathic gingival fibromatosis with asymmetrical presentation and electrosurgical management. ( 27041849 )
2016
23
Idiopathic Gingival Fibromatosis: Case Report and Review of the Literature. ( 27043333 )
2016
24
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. ( 27260277 )
2016
25
Gingival fibromatosis with significant de novo formation of fibrotic tissue and a high rate of recurrence. ( 27609299 )
2016
26
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. ( 27994842 )
2016
27
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. ( 28171221 )
2016
28
The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report. ( 30512259 )
2016
29
Recurrent idiopathic gingival fibromatosis with generalized aggressive periodontitis: A rare case report. ( 25810601 )
2015
30
Recurrent idiopathic gingival fibromatosis with generalized aggressive periodontitis: A rare case report. ( 26941507 )
2015
31
Author's Reply: Recurrent idiopathic gingival fibromatosis with generalized aggressive periodontitis: A rare case report. ( 26941508 )
2015
32
Gingival fibromatosis: a case report. ( 26418928 )
2015
33
Idiopathic gingival fibromatosis. ( 26941525 )
2015
34
RARE CASE OF IDIOPATHIC GINGIVAL FIBROMATOSIS AFFECTING PRIMARY DENTITION. ( 27004356 )
2015
35
Complete oral rehabilitation of a patient with hereditary gingival fibromatosis: a clinical report. ( 25277031 )
2015
36
Hereditary gingival fibromatosis: clinical and ultrastructural features of a new family. ( 25475776 )
2015
37
Resection of Gingival Fibromatosis with High-power Laser. ( 25909843 )
2015
38
"Whisking of ugly tissue"… A surgical management of gingival fibromatosis in a 15-year-old girl: A rare case report. ( 26097363 )
2015
39
Gingival Fibromatosis with Distinctive Facies - A Three Generation Case Report. ( 26155576 )
2015
40
Management of hereditary gingival fibromatosis: A 2 years follow-up case report. ( 26229281 )
2015
41
Hereditary gingival fibromatosis--review of the literature. ( 24864520 )
2014
42
Idiopathic gingival fibromatosis associated with progressive hearing loss: A nonfamilial variant of Jones syndrome. ( 24963260 )
2014
43
Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens. ( 24967210 )
2014
44
Management of traumatic dental injury after periodontal surgery in patient with hereditary gingival fibromatosis: case report. ( 24984630 )
2014
45
Non-syndromic hereditary gingival fibromatosis in three Chinese families is not due to SOS1 gene mutations. ( 25062969 )
2014
46
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
47
Hereditary gingival fibromatosis. ( 25298717 )
2014
48
Hereditary gingival fibromatosis and its management: 2-year follow-up. ( 25395783 )
2014
49
Unusual gingival fibromatosis with aggressive periodontitis. ( 23518779 )
2013
50
Bimaxillary unilateral gingival fibromatosis with localized aggressive periodontitis (eating the tooth at the same table). ( 24124307 )
2013

Variations for Gingival Fibromatosis

ClinVar genetic disease variations for Gingival Fibromatosis:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOS1 NM_005633.3(SOS1): c.195A> C (p.Arg65=) single nucleotide variant Benign rs7609455 GRCh37 Chromosome 2, 39294787: 39294787
2 SOS1 NM_005633.3(SOS1): c.195A> C (p.Arg65=) single nucleotide variant Benign rs7609455 GRCh38 Chromosome 2, 39067646: 39067646
3 SOS1 NM_005633.3(SOS1): c.570C> T (p.Asp190=) single nucleotide variant Benign rs55980502 GRCh37 Chromosome 2, 39281905: 39281905
4 SOS1 NM_005633.3(SOS1): c.570C> T (p.Asp190=) single nucleotide variant Benign rs55980502 GRCh38 Chromosome 2, 39054764: 39054764
5 SOS1 NM_005633.3(SOS1): c.1230G> A (p.Gln410=) single nucleotide variant Benign rs141390073 GRCh37 Chromosome 2, 39250339: 39250339
6 SOS1 NM_005633.3(SOS1): c.1230G> A (p.Gln410=) single nucleotide variant Benign rs141390073 GRCh38 Chromosome 2, 39023198: 39023198
7 SOS1 NM_005633.3(SOS1): c.2122G> A (p.Ala708Thr) single nucleotide variant Benign rs140811086 GRCh37 Chromosome 2, 39240646: 39240646
8 SOS1 NM_005633.3(SOS1): c.2122G> A (p.Ala708Thr) single nucleotide variant Benign rs140811086 GRCh38 Chromosome 2, 39013505: 39013505
9 SOS1 NM_005633.3(SOS1): c.1074+5G> C single nucleotide variant Benign rs145155424 GRCh37 Chromosome 2, 39262348: 39262348
10 SOS1 NM_005633.3(SOS1): c.1074+5G> C single nucleotide variant Benign rs145155424 GRCh38 Chromosome 2, 39035207: 39035207
11 SOS1 NM_005633.3(SOS1): c.2673+14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs183998234 GRCh37 Chromosome 2, 39234158: 39234158
12 SOS1 NM_005633.3(SOS1): c.2673+14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs183998234 GRCh38 Chromosome 2, 39007017: 39007017
13 SOS1 NM_005633.3(SOS1): c.3391+7A> G single nucleotide variant Benign rs201982464 GRCh37 Chromosome 2, 39216404: 39216404
14 SOS1 NM_005633.3(SOS1): c.3391+7A> G single nucleotide variant Benign rs201982464 GRCh38 Chromosome 2, 38989263: 38989263
15 SOS1 NM_005633.3(SOS1): c.553A> G (p.Ile185Val) single nucleotide variant Benign rs143962515 GRCh37 Chromosome 2, 39281922: 39281922
16 SOS1 NM_005633.3(SOS1): c.553A> G (p.Ile185Val) single nucleotide variant Benign rs143962515 GRCh38 Chromosome 2, 39054781: 39054781
17 SOS1 NM_005633.3(SOS1): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs143481916 GRCh37 Chromosome 2, 39262577: 39262577
18 SOS1 NM_005633.3(SOS1): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs143481916 GRCh38 Chromosome 2, 39035436: 39035436
19 SOS1 NM_005633.3(SOS1): c.1989A> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781172 GRCh37 Chromosome 2, 39241082: 39241082
20 SOS1 NM_005633.3(SOS1): c.1989A> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781172 GRCh38 Chromosome 2, 39013941: 39013941
21 SOS1 NM_005633.3(SOS1): c.*4C> T (p.Gln2Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs188849286 GRCh38 Chromosome 2, 38985820: 38985820
22 SOS1 NM_005633.3(SOS1): c.*4C> T (p.Gln2Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs188849286 GRCh37 Chromosome 2, 39212961: 39212961
23 SOS1 NM_005633.3(SOS1): c.1720G> A (p.Val574Ile) single nucleotide variant Uncertain significance rs727504641 GRCh38 Chromosome 2, 39022708: 39022708
24 SOS1 NM_005633.3(SOS1): c.1720G> A (p.Val574Ile) single nucleotide variant Uncertain significance rs727504641 GRCh37 Chromosome 2, 39249849: 39249849
25 SOS1 NM_005633.3(SOS1): c.*2244_*2245dupTA duplication Likely benign rs3832123 GRCh37 Chromosome 2, 39210720: 39210721
26 SOS1 NM_005633.3(SOS1): c.*2244_*2245dupTA duplication Likely benign rs3832123 GRCh38 Chromosome 2, 38983579: 38983580
27 SOS1 NM_005633.3(SOS1): c.*1606delT deletion Likely benign rs34248802 GRCh37 Chromosome 2, 39211359: 39211359
28 SOS1 NM_005633.3(SOS1): c.*1606delT deletion Likely benign rs34248802 GRCh38 Chromosome 2, 38984218: 38984218
29 SOS1 NM_005633.3(SOS1): c.587C> T (p.Ser196Leu) single nucleotide variant Uncertain significance rs199898869 GRCh37 Chromosome 2, 39281888: 39281888
30 SOS1 NM_005633.3(SOS1): c.587C> T (p.Ser196Leu) single nucleotide variant Uncertain significance rs199898869 GRCh38 Chromosome 2, 39054747: 39054747
31 SOS1 NM_005633.3(SOS1): c.*4265A> G single nucleotide variant Uncertain significance rs377303107 GRCh38 Chromosome 2, 38981559: 38981559
32 SOS1 NM_005633.3(SOS1): c.*4265A> G single nucleotide variant Uncertain significance rs377303107 GRCh37 Chromosome 2, 39208700: 39208700
33 SOS1 NM_005633.3(SOS1): c.*3725T> C single nucleotide variant Uncertain significance rs72799430 GRCh38 Chromosome 2, 38982099: 38982099
34 SOS1 NM_005633.3(SOS1): c.*3725T> C single nucleotide variant Uncertain significance rs72799430 GRCh37 Chromosome 2, 39209240: 39209240
35 SOS1 NM_005633.3(SOS1): c.*3724T> C single nucleotide variant Likely benign rs11124658 GRCh38 Chromosome 2, 38982100: 38982100
36 SOS1 NM_005633.3(SOS1): c.*3724T> C single nucleotide variant Likely benign rs11124658 GRCh37 Chromosome 2, 39209241: 39209241
37 SOS1 NM_005633.3(SOS1): c.*2983C> T single nucleotide variant Uncertain significance rs190454003 GRCh38 Chromosome 2, 38982841: 38982841
38 SOS1 NM_005633.3(SOS1): c.*2983C> T single nucleotide variant Uncertain significance rs190454003 GRCh37 Chromosome 2, 39209982: 39209982
39 SOS1 NM_005633.3(SOS1): c.*2439delA deletion Likely benign rs377250198 GRCh38 Chromosome 2, 38983385: 38983385
40 SOS1 NM_005633.3(SOS1): c.*2439delA deletion Likely benign rs377250198 GRCh37 Chromosome 2, 39210526: 39210526
41 SOS1 NM_005633.3(SOS1): c.*2208dupC duplication Uncertain significance rs886056010 GRCh38 Chromosome 2, 38983616: 38983616
42 SOS1 NM_005633.3(SOS1): c.*2208dupC duplication Uncertain significance rs886056010 GRCh37 Chromosome 2, 39210757: 39210757
43 SOS1 NM_005633.3(SOS1): c.*1589T> G single nucleotide variant Uncertain significance rs886056014 GRCh38 Chromosome 2, 38984235: 38984235
44 SOS1 NM_005633.3(SOS1): c.*1589T> G single nucleotide variant Uncertain significance rs886056014 GRCh37 Chromosome 2, 39211376: 39211376
45 SOS1 NM_005633.3(SOS1): c.*1333_*1336dupAAGT duplication Likely benign rs35969619 GRCh38 Chromosome 2, 38984488: 38984491
46 SOS1 NM_005633.3(SOS1): c.*1333_*1336dupAAGT duplication Likely benign rs35969619 GRCh37 Chromosome 2, 39211629: 39211632
47 SOS1 NM_005633.3(SOS1): c.*1309A> G single nucleotide variant Uncertain significance rs145273962 GRCh38 Chromosome 2, 38984515: 38984515
48 SOS1 NM_005633.3(SOS1): c.*1309A> G single nucleotide variant Uncertain significance rs145273962 GRCh37 Chromosome 2, 39211656: 39211656
49 SOS1 NM_005633.3(SOS1): c.*1303C> A single nucleotide variant Uncertain significance rs115153488 GRCh38 Chromosome 2, 38984521: 38984521
50 SOS1 NM_005633.3(SOS1): c.*1303C> A single nucleotide variant Uncertain significance rs115153488 GRCh37 Chromosome 2, 39211662: 39211662

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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CAMK4 ITGA2 MMP1 MMP2 MMP3 SOS1
2
Show member pathways
13.29 FN1 ITGA2 MMP1 MMP2 MMP3 SOS1
3
Show member pathways
13.23 FN1 MMP1 MMP2 MMP3 SOS1 TGFB1
4
Show member pathways
13.21 FN1 ITGA2 MMP1 SOS1 TGFB1 TIMP1
5
Show member pathways
12.94 CAMK4 FN1 ITGA2 SOS1 TGFB1 TIMP1
6
Show member pathways
12.88 CAMK4 KCNQ1 MMP1 MMP2 SOS1 TGFB1
7 12.7 FN1 ITGA2 MMP1 MMP2 SOS1 TGFB1
8
Show member pathways
12.57 FN1 ITGA2 MMP2 SOS1
9
Show member pathways
12.47 FN1 MMP2 SOS1 TIMP1
10
Show member pathways
12.42 CAMK4 MMP2 SOS1 TGFB1
11
Show member pathways
12.21 FN1 ITGA2 MMP1 MMP2 MMP3 SERPINH1
12
Show member pathways
12.15 MMP1 MMP3 SOS1 TIMP1
13
Show member pathways
12.1 FN1 MMP1 SOS1 TGFB1
14
Show member pathways
12.09 FN1 ITGA2 MMP1 MMP2 MMP3 SOS1
15 12.07 FN1 ITGA2 MMP2 SOS1 TGFB1
16 12.04 MMP1 MMP2 SOS1 TGFB1
17
Show member pathways
12.01 MMP2 SOS1 TGFB1
18
Show member pathways
11.94 FN1 MMP2 MMP3
19 11.84 FN1 ITGA2 MMP1 SOS1 TGFB1
20 11.79 FN1 MMP2 TGFB1
21
Show member pathways
11.75 MMP1 MMP2 MMP3 TIMP1
22 11.69 ATP6V1B2 MMP1 MMP3 TGFB1
23 11.65 MMP2 MMP3 TGFB1 TIMP1
24 11.61 ITGA2 SOS1 TGFB1 TIMP1
25 11.59 CDKN1C SERPINH1 TGFB1
26 11.57 MMP2 TGFB1 TIMP1
27
Show member pathways
11.56 MMP1 MMP2 MMP3
28
Show member pathways
11.51 MMP2 SOS1 TGFB1
29 11.44 MMP1 SOS1 TGFB1
30 11.34 FN1 MMP1 MMP2 MMP3 TIMP1
31 11.16 FN1 MMP1 MMP2 MMP3 TGFB1 TIMP1
32 11.08 FN1 ITGA2 MMP2 TGFB1
33 11.01 FN1 ITGA2 SOS1
34 10.99 MMP1 MMP2
35 10.99 FN1 TGFB1
36 10.94 MMP1 TIMP1
37 10.91 FN1 TGFB1
38 10.87 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-containing extracellular matrix GO:0062023 9.46 FN1 MMP2 SERPINH1 TGFB1
2 platelet alpha granule lumen GO:0031093 9.13 FN1 TGFB1 TIMP1
3 extracellular matrix GO:0031012 9.1 FN1 MMP1 MMP2 MMP3 TGFB1 TIMP1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.76 FN1 MMP1 MMP2 TIMP1
2 leukocyte migration GO:0050900 9.71 FN1 MMP1 SOS1 TGFB1
3 platelet degranulation GO:0002576 9.7 FN1 TGFB1 TIMP1
4 wound healing GO:0042060 9.56 FN1 ITGA2 TGFB1 TIMP1
5 positive regulation of collagen biosynthetic process GO:0032967 9.55 ITGA2 TGFB1
6 potassium ion transmembrane transport GO:0071805 9.54 KCNH1 KCNQ1
7 myeloid dendritic cell differentiation GO:0043011 9.51 CAMK4 TGFB1
8 collagen catabolic process GO:0030574 9.5 MMP1 MMP2 MMP3
9 positive regulation of protein oligomerization GO:0032461 9.49 MMP1 MMP3
10 cell activation GO:0001775 9.48 TGFB1 TIMP1
11 response to hypoxia GO:0001666 9.46 ITGA2 MMP2 REST TGFB1
12 regulation of T cell differentiation in thymus GO:0033081 9.43 CAMK4 SOS1
13 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.37 TGFB1 TIMP1
14 extracellular matrix disassembly GO:0022617 9.26 MMP1 MMP2 MMP3 TIMP1
15 cytokine-mediated signaling pathway GO:0019221 9.17 FN1 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 9.33 MMP1 MMP2 MMP3
2 collagen binding GO:0005518 8.8 FN1 ITGA2 SERPINH1
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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