MCID: GNG025
MIFTS: 46

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 70
Hereditary Gingival Hyperplasia 12 58
Autosomal Dominant Gingival Fibromatosis 58
Autosomal Dominant Gingival Hyperplasia 58
Fibromatosis, Gingival, Hereditary 44

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 44 C562884
SNOMED-CT 67 109620006
ICD10 via Orphanet 33 K06.1
UMLS via Orphanet 71 C0399440
Orphanet 58 ORPHA2024
UMLS 70 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 amelogenesis imperfecta, type ig. 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. Affiliated tissues include tongue 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 158)
# Related Disease Score Top Affiliating Genes
1 fibromatosis, gingival, 1 32.9 TGFB1 SOS1 SERPINH1 REST MMP2 MMP1
2 amelogenesis imperfecta, type ig 32.5 GINGF4 GINGF3 GINGF2 FAM20A
3 fibromatosis 32.3 SOS1 REST GINGF2
4 periodontitis 30.8 TIMP1 MMP3 MMP2 MMP1
5 gingival overgrowth 30.6 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
6 gingival disease 30.0 TIMP1 TGFB1 SOS1 MMP1 FN1 FAM20A
7 myopia 29.8 TIMP1 TGFB1 MMP3 MMP2 MMP1
8 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.9
9 fibromatosis, gingival, with progressive deafness 11.8
10 fibromatosis, gingival, 2 11.7
11 fibromatosis, gingival, 4 11.7
12 zimmermann-laband syndrome 1 11.6
13 ramon syndrome 11.6
14 fibromatosis, gingival, 5 11.6
15 zimmermann-laband syndrome 11.5
16 fibromatosis, gingival, 3 11.5
17 fibromatosis, gingival, with distinctive facies 11.5
18 oculocerebral syndrome with hypopigmentation 11.2
19 rutherfurd syndrome 11.1
20 overgrowth syndrome 10.8
21 hypertrichosis 10.6
22 aggressive periodontitis 10.4
23 keloid disorder 10.4 TGFB1 SERPINH1
24 lentigo maligna melanoma 10.4 TIMP1 MMP2
25 villonodular synovitis 10.3 SOS1 MMP1
26 superior limbic keratoconjunctivitis 10.3 MMP3 MMP1
27 cherubism 10.3
28 light chain deposition disease 10.3 MMP2 MMP1
29 coronary artery aneurysm 10.3 MMP3 MMP1
30 hypertrophic scars 10.3 TIMP1 TGFB1 MMP2
31 odontogenic myxoma 10.3 MMP2 MMP1
32 tendinopathy 10.3 MMP3 MMP1
33 scleredema adultorum 10.3 MMP1 FN1
34 diffuse pulmonary fibrosis 10.3 SERPINH1 FN1
35 hair whorl 10.3
36 nephrogenic systemic fibrosis 10.3 TIMP1 TGFB1 CCN2
37 collagenous colitis 10.3 TIMP1 MMP1 CCN2
38 pneumothorax 10.3 TIMP1 MMP2 MMP1
39 ocular cicatricial pemphigoid 10.2 TGFB1 SERPINH1 CCN2
40 pulmonary emphysema 10.2 TIMP1 MMP2 MMP1
41 aortic aneurysm, familial thoracic 1 10.2 TIMP1 MMP2 MMP1
42 urethral stricture 10.2 TGFB1 CCN2
43 localized scleroderma 10.2 TGFB1 MMP1 CCN2
44 tendinosis 10.2 TIMP1 MMP3 MMP1
45 cholecystolithiasis 10.2 TGFB1 CCN2
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
47 amelogenesis imperfecta 10.2
48 gingival hypertrophy 10.2
49 growth hormone deficiency 10.2
50 spastic entropion 10.2 MMP3 MMP2 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%)

MGI Mouse Phenotypes related to Gingival Fibromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 CCN2 FAM20A FN1 MMP2 SERPINH1 SOS1
2 skeleton MP:0005390 9.32 CAMK4 CCN2 FAM20A FN1 MMP2 MMP3

Drugs & Therapeutics for Gingival Fibromatosis

Search Clinical Trials , 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
Tongue, Pituitary

Publications for Gingival Fibromatosis

Articles related to Gingival Fibromatosis:

(show top 50) (show all 364)
# Title Authors PMID Year
1
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 61 6
28686854 2017
2
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 6 61
11868160 2002
3
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. 6
26686981 2016
4
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 6
17143282 2007
5
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing. 61
33491997 2021
6
Novel REST Truncation Mutations Causing Hereditary Gingival Fibromatosis. 61
33719663 2021
7
Idiopathic gingival fibromatosis in association with aggressive periodontitis and candidal infection: A unique case report with 7-year follow-up. 61
33642744 2021
8
Local Mucosal Flap for the Treatment of Gingival Defect After Gingival Fibromatosis Excision. 61
33437556 2020
9
Activated KCNQ1 channel promotes fibrogenic response in hereditary gingival fibromatosis via clustering and activation of Ras. 61
33381870 2020
10
Hereditary gingival fibromatosis in children: a systematic review of the literature. 61
33188467 2020
11
A Rare Case of non Syndromic Congenital Idiopathic Gingival Fibromatosis: Electrosurgical Management. 61
33181851 2020
12
Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene. 61
32981868 2020
13
Hereditary Gingival Fibromatosis: A Report of a Rare Case in Siblings and Its Management Using Diode Laser. 61
33776359 2020
14
Idiopathic gingival fibromatosis with massive gingival overgrowth: A rare case report. 61
32831513 2020
15
Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology. 61
32413193 2020
16
Son of Sevenless-1 genetic status in an Indian family with nonsyndromic hereditary gingival fibromatosis. 61
32773981 2020
17
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
18
Unusual clinical and histologic findings in a child with mixed dentition with hereditary gingival fibromatosis: a case report. 61
32154139 2020
19
[Hereditary gingival fibromatosis: a three-generation case report]. 61
32037776 2020
20
Generalized hereditary gingival fibromatosis in a child: clinical, histopathological and therapeutic aspects. 61
32039068 2020
21
Gingival fibromatosis with congenital hypertrichosis. 61
31983850 2020
22
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
23
Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis. 61
31323181 2019
24
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. 61
30907493 2019
25
Ramon Syndrome- A Rare Form of Cherubism. 61
31909027 2019
26
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
27
Zimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis. 61
31261938 2019
28
Fibroblasts Collagen Production and Histological Alterations in Hereditary Gingival Fibromatosis. 61
31130610 2019
29
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. 61
31275518 2019
30
Rare case report of idiopathic gingival fibromatosis in childhood and its management. 61
30674497 2019
31
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
32
Towards the targeted management of hereditary gingival fibromatosis. 61
30396478 2018
33
TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis. 61
29989318 2018
34
Hereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up. 61
30510301 2018
35
Nonsyndromic Gingival Fibromatosis: A Rare Case Report. 61
30131651 2018
36
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. 61
29703730 2018
37
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1. 61
29325232 2018
38
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. 61
29435271 2018
39
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
40
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome. 61
29740400 2018
41
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 61
29439260 2018
42
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 61
29097701 2017
43
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. 61
28425619 2017
44
Squamous cell carcinoma arising in familial gingival fibromatosis-a rare case report. 61
29026519 2017
45
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 61
28650561 2017
46
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients. 61
28433619 2017
47
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 61
28836540 2017
48
Periodontal disease and FAM20A mutations. 61
28298625 2017
49
Hereditary gingival fibromatosis: Characteristics and treatment approach. 61
28469831 2017
50
Unusual presentation of familial gingival fibromatosis among male siblings. 61
29398861 2017

Variations for Gingival Fibromatosis

ClinVar genetic disease variations for Gingival Fibromatosis:

6 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOS1 NM_005633.3(SOS1):c.3248dup (p.Arg1084fs) Duplication Pathogenic 12868 rs387906518 GRCh37: 2:39222361-39222362
GRCh38: 2:38995220-38995221
2 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) SNV Pathogenic 40684 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
3 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 GRCh37: 2:39278352-39278352
GRCh38: 2:39051211-39051211
4 SOS1 NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) SNV Pathogenic 40706 rs397517159 GRCh37: 2:39234309-39234309
GRCh38: 2:39007168-39007168
5 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) SNV Pathogenic 12872 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
6 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) SNV Pathogenic 12871 rs137852814 GRCh37: 2:39249915-39249915
GRCh38: 2:39022774-39022774
7 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) SNV Pathogenic 40683 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
8 SOS1 NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) SNV Pathogenic 40678 rs397517149 GRCh37: 2:39249927-39249927
GRCh38: 2:39022786-39022786
9 SOS1 NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile) SNV Likely pathogenic 636262 rs727505093 GRCh37: 2:39241979-39241979
GRCh38: 2:39014838-39014838
10 ZNF862 NM_001099220.3(ZNF862):c.2812G>A (p.Ala938Thr) SNV Likely pathogenic 870571 GRCh37: 7:149559061-149559061
GRCh38: 7:149861972-149861972
11 REST NM_005612.5(REST):c.2413del (p.Leu805fs) Deletion Likely pathogenic 427773 rs1553904346 GRCh37: 4:57797434-57797434
GRCh38: 4:56931268-56931268
12 REST NM_005612.5(REST):c.2865_2866del (p.Asn958fs) Deletion Likely pathogenic 427771 rs1553904481 GRCh37: 4:57797889-57797890
GRCh38: 4:56931723-56931724
13 REST NM_005612.5(REST):c.1310T>A (p.Leu437Ter) SNV Likely pathogenic 427772 rs1553904077 GRCh37: 4:57796334-57796334
GRCh38: 4:56930168-56930168
14 SOS1 NM_005633.3(SOS1):c.1564A>C (p.Asn522His) SNV Uncertain significance 229262 rs761094509 GRCh37: 2:39250005-39250005
GRCh38: 2:39022864-39022864
15 SOS1 NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) SNV Uncertain significance 281652 rs886042206 GRCh37: 2:39283866-39283866
GRCh38: 2:39056725-39056725
16 SOS1 NM_005633.4(SOS1):c.*3989G>C SNV Uncertain significance 895515 GRCh37: 2:39208976-39208976
GRCh38: 2:38981835-38981835
17 SOS1 NM_005633.3(SOS1):c.*544C>T SNV Uncertain significance 336008 rs886056020 GRCh37: 2:39212421-39212421
GRCh38: 2:38985280-38985280
18 SOS1 NM_005633.3(SOS1):c.*3727G>C SNV Uncertain significance 335968 rs886056004 GRCh37: 2:39209238-39209238
GRCh38: 2:38982097-38982097
19 SOS1 NM_005633.3(SOS1):c.865-4T>C SNV Uncertain significance 336022 rs750788947 GRCh37: 2:39262645-39262645
GRCh38: 2:39035504-39035504
20 SOS1 NM_005633.3(SOS1):c.*1224A>G SNV Uncertain significance 335999 rs886056015 GRCh37: 2:39211741-39211741
GRCh38: 2:38984600-38984600
21 SOS1 NM_005633.3(SOS1):c.*1684G>C SNV Uncertain significance 335990 rs886056012 GRCh37: 2:39211281-39211281
GRCh38: 2:38984140-38984140
22 SOS1 NM_005633.3(SOS1):c.*696G>A SNV Uncertain significance 336006 rs886056018 GRCh37: 2:39212269-39212269
GRCh38: 2:38985128-38985128
23 SOS1 NM_005633.4(SOS1):c.*3326T>C SNV Uncertain significance 895590 GRCh37: 2:39209639-39209639
GRCh38: 2:38982498-38982498
24 SOS1 NM_005633.4(SOS1):c.*3291C>T SNV Uncertain significance 895591 GRCh37: 2:39209674-39209674
GRCh38: 2:38982533-38982533
25 SOS1 NM_005633.4(SOS1):c.*3252A>C SNV Uncertain significance 895592 GRCh37: 2:39209713-39209713
GRCh38: 2:38982572-38982572
26 SOS1 NM_005633.4(SOS1):c.*2257C>G SNV Uncertain significance 895652 GRCh37: 2:39210708-39210708
GRCh38: 2:38983567-38983567
27 SOS1 NM_005633.4(SOS1):c.*2246A>T SNV Uncertain significance 895653 GRCh37: 2:39210719-39210719
GRCh38: 2:38983578-38983578
28 SOS1 NM_005633.4(SOS1):c.*1535G>A SNV Uncertain significance 895719 GRCh37: 2:39211430-39211430
GRCh38: 2:38984289-38984289
29 SOS1 NM_005633.4(SOS1):c.*1477G>A SNV Uncertain significance 895720 GRCh37: 2:39211488-39211488
GRCh38: 2:38984347-38984347
30 SOS1 NM_005633.4(SOS1):c.*185A>G SNV Uncertain significance 895862 GRCh37: 2:39212780-39212780
GRCh38: 2:38985639-38985639
31 SOS1 NM_005633.4(SOS1):c.*110C>A SNV Uncertain significance 895863 GRCh37: 2:39212855-39212855
GRCh38: 2:38985714-38985714
32 SOS1 NM_005633.3(SOS1):c.*1589T>G SNV Uncertain significance 335992 rs886056014 GRCh37: 2:39211376-39211376
GRCh38: 2:38984235-38984235
33 SOS1 NM_005633.3(SOS1):c.*3725T>C SNV Uncertain significance 335969 rs72799430 GRCh37: 2:39209240-39209240
GRCh38: 2:38982099-38982099
34 SOS1 NM_005633.3(SOS1):c.*1678C>A SNV Uncertain significance 335991 rs886056013 GRCh37: 2:39211287-39211287
GRCh38: 2:38984146-38984146
35 SOS1 NM_005633.3(SOS1):c.*4110C>A SNV Uncertain significance 335965 rs886056003 GRCh37: 2:39208855-39208855
GRCh38: 2:38981714-38981714
36 SOS1 NM_005633.3(SOS1):c.*2048_*2050dup Duplication Uncertain significance 335986 rs761591990 GRCh37: 2:39210914-39210915
GRCh38: 2:38983773-38983774
37 SOS1 NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) SNV Uncertain significance 336014 rs886056023 GRCh37: 2:39213174-39213174
GRCh38: 2:38986033-38986033
38 SOS1 NM_005633.3(SOS1):c.*2208dup Duplication Uncertain significance 335984 rs886056010 GRCh37: 2:39210756-39210757
GRCh38: 2:38983615-38983616
39 SOS1 NM_005633.3(SOS1):c.*3189_*3192del Deletion Uncertain significance 335977 rs572584074 GRCh37: 2:39209773-39209776
GRCh38: 2:38982632-38982635
40 SOS1 NM_005633.3(SOS1):c.*223C>T SNV Uncertain significance 336013 rs886056022 GRCh37: 2:39212742-39212742
GRCh38: 2:38985601-38985601
41 SOS1 NM_005633.3(SOS1):c.*2497G>A SNV Uncertain significance 335981 rs886056008 GRCh37: 2:39210468-39210468
GRCh38: 2:38983327-38983327
42 SOS1 NM_005633.3(SOS1):c.*3566_*3568del Deletion Uncertain significance 335972 rs886056005 GRCh37: 2:39209397-39209399
GRCh38: 2:38982256-38982258
43 SOS1 NM_005633.3(SOS1):c.*855G>A SNV Uncertain significance 336002 rs886056017 GRCh37: 2:39212110-39212110
GRCh38: 2:38984969-38984969
44 SOS1 NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) SNV Uncertain significance 336023 rs886056026 GRCh37: 2:39347559-39347559
GRCh38: 2:39120418-39120418
45 SOS1 NM_005633.3(SOS1):c.*2503_*2506dup Duplication Uncertain significance 335980 rs886056007 GRCh37: 2:39210458-39210459
GRCh38: 2:38983317-38983318
46 SOS1 NM_005633.3(SOS1):c.*1094_*1097delTTTG Microsatellite Uncertain significance 336000 rs886056016 GRCh37: 2:39211868-39211871
GRCh38: 2:38984727-38984730
47 SOS1 NM_005633.3(SOS1):c.*766del Deletion Uncertain significance 336004 rs533720751 GRCh37: 2:39212199-39212199
GRCh38: 2:38985058-38985058
48 SOS1 NM_005633.3(SOS1):c.*1385A>G SNV Uncertain significance 335995 rs868000333 GRCh37: 2:39211580-39211580
GRCh38: 2:38984439-38984439
49 SOS1 NM_005633.3(SOS1):c.*3416_*3417del Deletion Uncertain significance 335976 rs200892895 GRCh37: 2:39209548-39209549
GRCh38: 2:38982407-38982408
50 SOS1 NM_005633.3(SOS1):c.3724dup (p.Ser1242fs) Duplication Uncertain significance 631861 rs1558454973 GRCh37: 2:39213242-39213243
GRCh38: 2:38986101-38986102

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 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
2
Show member pathways
13.32 TGFB1 SOS1 MMP3 MMP2 MMP1 ITGA2
3
Show member pathways
13.27 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
4
Show member pathways
12.95 TIMP1 TGFB1 SOS1 ITGA2 FN1 CCN2
5 12.73 TGFB1 SOS1 MMP2 MMP1 ITGA2 FN1
6
Show member pathways
12.31 TIMP1 TGFB1 SOS1 ITGA2 CCN2
7
Show member pathways
12.21 TIMP1 TGFB1 SERPINH1 MMP3 MMP2 MMP1
8
Show member pathways
12.14 TGFB1 SOS1 MMP1 FN1
9 12.14 TGFB1 SOS1 MMP2 ITGA2 FN1
10
Show member pathways
12.12 TIMP1 SOS1 MMP3 MMP1 FN1
11 12.08 TGFB1 SOS1 MMP2 MMP1
12 11.84 TGFB1 SOS1 MMP1 ITGA2 FN1
13 11.81 TGFB1 MMP2 FN1
14
Show member pathways
11.79 TIMP1 MMP3 MMP2 MMP1
15 11.77 TGFB1 MMP3 MMP1
16 11.71 TIMP1 TGFB1 MMP3 MMP2
17 11.62 TIMP1 TGFB1 SOS1 ITGA2 CCN2
18 11.59 TGFB1 SERPINH1 CDKN1C
19
Show member pathways
11.57 MMP3 MMP2 MMP1
20 11.47 TIMP1 TGFB1 MMP2 CCN2
21 11.46 TGFB1 SOS1 CCN2
22 11.45 TGFB1 SOS1 MMP1
23 11.4 MMP2 FN1 CCN2
24 11.34 TIMP1 MMP3 MMP2 MMP1 FN1
25 11.16 TIMP1 TGFB1 MMP3 MMP2 MMP1 FN1
26 11.08 TGFB1 MMP2 ITGA2 FN1
27 11.01 SOS1 ITGA2 FN1
28 10.93 TIMP1 TGFB1 ITGA2 FN1 CCN2
29 10.9 TGFB1 FN1
30 10.87 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 9.61 TIMP1 TGFB1 SERPINH1 MMP3 MMP2 MIR335
2 collagen-containing extracellular matrix GO:0062023 9.55 TGFB1 SERPINH1 MMP2 FN1 CCN2
3 platelet alpha granule lumen GO:0031093 9.43 TIMP1 TGFB1 FN1
4 extracellular matrix GO:0031012 9.17 TIMP1 TGFB1 MMP3 MMP2 MMP1 FN1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 TIMP1 MMP2 MMP1 FN1
2 leukocyte migration GO:0050900 9.83 TGFB1 SOS1 MMP1 FN1
3 response to hypoxia GO:0001666 9.78 TGFB1 REST MMP2 ITGA2
4 extracellular matrix organization GO:0030198 9.77 MMP3 MMP2 MMP1 ITGA2 FN1
5 integrin-mediated signaling pathway GO:0007229 9.76 ITGA2 FN1 CCN2
6 cell-matrix adhesion GO:0007160 9.75 ITGA2 FN1 CCN2
7 response to wounding GO:0009611 9.72 TGFB1 FN1 CCN2
8 positive regulation of protein complex assembly GO:0031334 9.69 TGFB1 MMP3 MMP1
9 response to amyloid-beta GO:1904645 9.59 MMP3 MMP2
10 collagen catabolic process GO:0030574 9.58 MMP3 MMP2 MMP1
11 cell activation GO:0001775 9.57 TIMP1 TGFB1
12 positive regulation of cardiac muscle contraction GO:0060452 9.56 KCNQ1 CCN2
13 wound healing GO:0042060 9.56 TIMP1 TGFB1 ITGA2 FN1
14 positive regulation of collagen biosynthetic process GO:0032967 9.5 TGFB1 ITGA2 CCN2
15 cytokine-mediated signaling pathway GO:0019221 9.5 TIMP1 TGFB1 SOS1 MMP3 MMP2 MMP1
16 regulation of T cell differentiation in thymus GO:0033081 9.49 SOS1 CAMK4
17 connective tissue development GO:0061448 9.46 TGFB1 CCN2
18 extracellular matrix disassembly GO:0022617 9.46 TIMP1 MMP3 MMP2 MMP1
19 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.43 TIMP1 TGFB1
20 cellular response to UV-A GO:0071492 8.92 TIMP1 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 endopeptidase activity GO:0004175 9.13 MMP3 MMP2 MMP1
3 collagen binding GO:0005518 8.8 SERPINH1 ITGA2 FN1

Sources for Gingival Fibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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