GINGF1
MCID: FBR084
MIFTS: 49

Fibromatosis, Gingival, 1 (GINGF1)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Fibromatosis, Gingival, 1

MalaCards integrated aliases for Fibromatosis, Gingival, 1:

Name: Fibromatosis, Gingival, 1 57 72
Hereditary Gingival Fibromatosis 72 36 29 70
Fibromatosis, Gingival, Hereditary 57 72 54
Gingf1 57 20 72
Ggf1 57 20 72
Hgf 57 72 17
Gingival Fibromatosis 1 29 6
Gingf 57 72
Fibromatosis, Gingival, Hereditary; Hgf 57
Fibromatosis Gingival, Hereditary, 1 20
Hereditary Gingival Fibromatosis, 1 20
Gingival Fibromatosis, 1 20
Hgf1 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
fibromatosis, gingival, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 135300
OMIM Phenotypic Series 57 PS135300
KEGG 36 H01250
MeSH 44 D005351
UMLS 70 C0399440

Summaries for Fibromatosis, Gingival, 1

KEGG : 36 Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant GINGF. Although the molecular basis of HGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations cause GINGF.

MalaCards based summary : Fibromatosis, Gingival, 1, also known as hereditary gingival fibromatosis, is related to adenocarcinoma and pulmonary fibrosis. An important gene associated with Fibromatosis, Gingival, 1 is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are MAPK signaling pathway and Integrin Pathway. Affiliated tissues include bone, and related phenotypes are gingival overgrowth and gingival fibromatosis

OMIM® : 57 Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002). (135300) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Fibromatosis, gingival, 1: A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.

Wikipedia : 73 Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare... more...

Related Diseases for Fibromatosis, Gingival, 1

Diseases in the Gingival Fibromatosis family:

Fibromatosis, Gingival, 1 Fibromatosis, Gingival, 2
Fibromatosis, Gingival, 3 Fibromatosis, Gingival, 4
Fibromatosis, Gingival, 5

Diseases related to Fibromatosis, Gingival, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 465)
# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 31.3 TGFB1 SOS1 MMP2
2 pulmonary fibrosis 31.1 TGFB1 MMP2 MMP1
3 myopia 30.8 TGFB1 MMP2 MMP1
4 renal fibrosis 30.8 TGFB1 MMP2 CD36
5 inguinal hernia 30.7 MMP2 MMP1 CD36
6 squamous cell carcinoma, head and neck 30.6 TGFB1 MMP2 MMP1
7 pulmonary fibrosis, idiopathic 30.5 TGFB1 SERPINH1 MMP2 MMP1
8 dilated cardiomyopathy 30.5 TGFB1 SOS1 MMP2 MMP1
9 fibromatosis 30.2 SOS1 REST
10 heart disease 30.1 TGFB1 SOS1 MMP2 MMP1 CD36
11 gingival overgrowth 29.9 TGFB1 SOS1 MMP2 MMP1 CD36
12 oral cancer 29.7 MMP2 MMP1
13 gingival disease 29.7 TGFB1 SOS1 MMP1
14 aggressive periodontitis 29.4 MMP2 MMP1
15 fibrosarcoma 29.3 TGFB1 MMP2 MMP1
16 breast adenocarcinoma 29.2 TGFB1 MMP2 MMP1
17 hypertrophic scars 28.9 TGFB1 MMP2 CD36
18 rheumatoid arthritis 28.8 TGFB1 SERPINH1 MMP2 MMP1
19 gingival fibromatosis 27.8 TGFB1 SOS1 SERPINH1 REST MMP2 MMP1
20 fibromatosis, gingival, 3 11.5
21 fibromatosis, gingival, 5 11.5
22 deafness, autosomal recessive 39 11.3
23 lung cancer 11.3
24 colorectal cancer 11.2
25 breast cancer 11.2
26 gastric cancer 11.2
27 hepatocellular carcinoma 11.2
28 pancreatic cancer 11.2
29 melanoma 11.1
30 liver disease 11.1
31 ovarian cancer 11.1
32 liver cirrhosis 11.1
33 prostate cancer 11.1
34 salivary gland carcinoma 11.1
35 papillary carcinoma 11.0
36 ischemia 11.0
37 acute liver failure 11.0
38 chronic kidney disease 11.0
39 gastric ulcer 11.0
40 arteriosclerosis 11.0
41 kidney disease 11.0
42 medulloblastoma 11.0
43 acute kidney failure 11.0
44 hepatoblastoma 11.0
45 esophageal cancer 11.0
46 biliary atresia 11.0
47 pancreatic adenocarcinoma 11.0
48 neural tube defects 11.0
49 alcoholic liver cirrhosis 11.0
50 endometriosis 11.0

Graphical network of the top 20 diseases related to Fibromatosis, Gingival, 1:



Diseases related to Fibromatosis, Gingival, 1

Symptoms & Phenotypes for Fibromatosis, Gingival, 1

Human phenotypes related to Fibromatosis, Gingival, 1:

31
# Description HPO Frequency HPO Source Accession
1 gingival overgrowth 31 hallmark (90%) HP:0000212
2 gingival fibromatosis 31 hallmark (90%) HP:0000169

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
gingival fibromatosis (slowly progressive enlargement of gingiva)
normal alveolar bone

Clinical features from OMIM®:

135300 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fibromatosis, Gingival, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CD36 MMP2 REST SERPINH1 SOS1 TGFB1
2 nervous system MP:0003631 9.43 CD36 MMP2 REST SERPINH1 SOS1 TGFB1
3 vision/eye MP:0005391 9.02 CD36 MMP2 REST SOS1 TGFB1

Drugs & Therapeutics for Fibromatosis, Gingival, 1

Search Clinical Trials , NIH Clinical Center for Fibromatosis, Gingival, 1

Genetic Tests for Fibromatosis, Gingival, 1

Genetic tests related to Fibromatosis, Gingival, 1:

# Genetic test Affiliating Genes
1 Gingival Fibromatosis 1 29 SOS1
2 Hereditary Gingival Fibromatosis 29

Anatomical Context for Fibromatosis, Gingival, 1

MalaCards organs/tissues related to Fibromatosis, Gingival, 1:

40
Bone

Publications for Fibromatosis, Gingival, 1

Articles related to Fibromatosis, Gingival, 1:

(show top 50) (show all 173)
# Title Authors PMID Year
1
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 6 57 61
11868160 2002
2
Genetic heterogeneity of gingival fibromatosis on chromosome 2p. 61 57 54
10507724 1999
3
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 61 6
28686854 2017
4
Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21. 61 57
10995566 2000
5
Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21. 61 57
9529355 1998
6
Hereditary gingival fibromatosis. 57 61
5234265 1967
7
Hereditary gingival fibromatosis. Report of a family. 57 61
13787614 1961
8
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. 6
26686981 2016
9
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 6
17143282 2007
10
Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype. 57
2573314 1989
11
Variation in the Inheritance and Expression of Gingival Fibromatosis. 57
29538838 1974
12
Gingival fibromatosis combined with cherubism. 57
5235465 1967
13
Massive fibro-osseous dysplasi of the jaws in two generations. 57
6023087 1967
14
HEREDITARY GINGIVAL HYPERPLASIA. A FAMILY PEDIGREE OF FOUR GENERATIONS. 57
14233392 1965
15
Increased expression of integrin alpha2 and abnormal response to TGF-beta1 in hereditary gingival fibromatosis. 54 61
19422573 2009
16
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. 54 61
17510059 2007
17
Characterization of fibroblasts with Son of Sevenless-1 mutation. 54 61
17062749 2006
18
Heterogeneous presence of myofibroblasts in hereditary gingival fibromatosis. 54 61
16677327 2006
19
A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3-p23.3. 61 54
16098013 2005
20
Inhibition of growth of human gingival fibroblasts by chimeric DNA-RNA hammerhead ribozyme targeting transforming growth factor-beta 1. 54 61
16101357 2005
21
Effect of transforming growth factor-beta1, interleukin-6, and interferon-gamma on the expression of type I collagen, heat shock protein 47, matrix metalloproteinase (MMP)-1 and MMP-2 by fibroblasts from normal gingiva and hereditary gingival fibromatosis. 54 61
12710748 2003
22
TGF-beta isoforms and TGF-beta receptors in drug-induced and hereditary gingival overgrowth. 54 61
11334464 2001
23
Alteration in expression of MMP-1 and MMP-2 but not TIMP-1 and TIMP-2 in hereditary gingival fibromatosis is mediated by TGF-beta 1 autocrine stimulation. 54 61
10697802 1999
24
Increase in expression of Hsp47 and collagen in hereditary gingival fibromatosis is modulated by stress and terminal procollagen N-propeptides. 54 61
10757112 1999
25
Novel REST Truncation Mutations Causing Hereditary Gingival Fibromatosis. 61
33719663 2021
26
Activated KCNQ1 channel promotes fibrogenic response in hereditary gingival fibromatosis via clustering and activation of Ras. 61
33381870 2020
27
Hereditary gingival fibromatosis in children: a systematic review of the literature. 61
33188467 2020
28
Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene. 61
32981868 2020
29
Hereditary Gingival Fibromatosis: A Report of a Rare Case in Siblings and Its Management Using Diode Laser. 61
33776359 2020
30
Son of Sevenless-1 genetic status in an Indian family with nonsyndromic hereditary gingival fibromatosis. 61
32773981 2020
31
Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology. 61
32413193 2020
32
[Hereditary gingival fibromatosis: a three-generation case report]. 61
32037776 2020
33
Unusual clinical and histologic findings in a child with mixed dentition with hereditary gingival fibromatosis: a case report. 61
32154139 2020
34
Generalized hereditary gingival fibromatosis in a child: clinical, histopathological and therapeutic aspects. 61
32039068 2020
35
Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis. 61
31323181 2019
36
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. 61
30907493 2019
37
Zimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis. 61
31261938 2019
38
Fibroblasts Collagen Production and Histological Alterations in Hereditary Gingival Fibromatosis. 61
31130610 2019
39
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
40
Towards the targeted management of hereditary gingival fibromatosis. 61
30396478 2018
41
TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis. 61
29989318 2018
42
Hereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up. 61
30510301 2018
43
Nonsyndromic Gingival Fibromatosis: A Rare Case Report. 61
30131651 2018
44
Expression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1. 61
29325232 2018
45
Gene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis. 61
29435271 2018
46
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. 61
28425619 2017
47
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 61
28650561 2017
48
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients. 61
28433619 2017
49
Hereditary gingival fibromatosis: Characteristics and treatment approach. 61
28469831 2017
50
On the Cellular and Molecular Mechanisms of Drug-Induced Gingival Overgrowth. 61
28868093 2017

Variations for Fibromatosis, Gingival, 1

ClinVar genetic disease variations for Fibromatosis, Gingival, 1:

6 (show top 50) (show all 157)
# 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.1642A>C (p.Ser548Arg) SNV Pathogenic 40678 rs397517149 GRCh37: 2:39249927-39249927
GRCh38: 2:39022786-39022786
8 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) SNV Pathogenic 40683 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
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 REST NM_005612.5(REST):c.2413del (p.Leu805fs) Deletion Likely pathogenic 427773 rs1553904346 GRCh37: 4:57797434-57797434
GRCh38: 4:56931268-56931268
11 REST NM_005612.5(REST):c.2865_2866del (p.Asn958fs) Deletion Likely pathogenic 427771 rs1553904481 GRCh37: 4:57797889-57797890
GRCh38: 4:56931723-56931724
12 REST NM_005612.5(REST):c.1310T>A (p.Leu437Ter) SNV Likely pathogenic 427772 rs1553904077 GRCh37: 4:57796334-57796334
GRCh38: 4:56930168-56930168
13 SOS1 NM_005633.3(SOS1):c.1564A>C (p.Asn522His) SNV Uncertain significance 229262 rs761094509 GRCh37: 2:39250005-39250005
GRCh38: 2:39022864-39022864
14 SOS1 NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) SNV Uncertain significance 281652 rs886042206 GRCh37: 2:39283866-39283866
GRCh38: 2:39056725-39056725
15 SOS1 NM_005633.4(SOS1):c.*3989G>C SNV Uncertain significance 895515 GRCh37: 2:39208976-39208976
GRCh38: 2:38981835-38981835
16 SOS1 NM_005633.3(SOS1):c.*3727G>C SNV Uncertain significance 335968 rs886056004 GRCh37: 2:39209238-39209238
GRCh38: 2:38982097-38982097
17 SOS1 NM_005633.3(SOS1):c.865-4T>C SNV Uncertain significance 336022 rs750788947 GRCh37: 2:39262645-39262645
GRCh38: 2:39035504-39035504
18 SOS1 NM_005633.3(SOS1):c.*1224A>G SNV Uncertain significance 335999 rs886056015 GRCh37: 2:39211741-39211741
GRCh38: 2:38984600-38984600
19 SOS1 NM_005633.3(SOS1):c.*1684G>C SNV Uncertain significance 335990 rs886056012 GRCh37: 2:39211281-39211281
GRCh38: 2:38984140-38984140
20 SOS1 NM_005633.4(SOS1):c.*3326T>C SNV Uncertain significance 895590 GRCh37: 2:39209639-39209639
GRCh38: 2:38982498-38982498
21 SOS1 NM_005633.4(SOS1):c.*3291C>T SNV Uncertain significance 895591 GRCh37: 2:39209674-39209674
GRCh38: 2:38982533-38982533
22 SOS1 NM_005633.4(SOS1):c.*3252A>C SNV Uncertain significance 895592 GRCh37: 2:39209713-39209713
GRCh38: 2:38982572-38982572
23 SOS1 NM_005633.4(SOS1):c.*2257C>G SNV Uncertain significance 895652 GRCh37: 2:39210708-39210708
GRCh38: 2:38983567-38983567
24 SOS1 NM_005633.4(SOS1):c.*2246A>T SNV Uncertain significance 895653 GRCh37: 2:39210719-39210719
GRCh38: 2:38983578-38983578
25 SOS1 NM_005633.4(SOS1):c.*1535G>A SNV Uncertain significance 895719 GRCh37: 2:39211430-39211430
GRCh38: 2:38984289-38984289
26 SOS1 NM_005633.4(SOS1):c.*1477G>A SNV Uncertain significance 895720 GRCh37: 2:39211488-39211488
GRCh38: 2:38984347-38984347
27 SOS1 NM_005633.4(SOS1):c.*664C>T SNV Uncertain significance 895788 GRCh37: 2:39212301-39212301
GRCh38: 2:38985160-38985160
28 SOS1 NM_005633.4(SOS1):c.*185A>G SNV Uncertain significance 895862 GRCh37: 2:39212780-39212780
GRCh38: 2:38985639-38985639
29 SOS1 NM_005633.4(SOS1):c.*110C>A SNV Uncertain significance 895863 GRCh37: 2:39212855-39212855
GRCh38: 2:38985714-38985714
30 SOS1 NM_005633.4(SOS1):c.730A>G (p.Asn244Asp) SNV Uncertain significance 896276 GRCh37: 2:39278419-39278419
GRCh38: 2:39051278-39051278
31 SOS1 NM_005633.3(SOS1):c.675T>G (p.Val225=) SNV Uncertain significance 416921 rs371482290 GRCh37: 2:39281800-39281800
GRCh38: 2:39054659-39054659
32 SOS1 NM_005633.4(SOS1):c.*3811T>C SNV Uncertain significance 895516 GRCh37: 2:39209154-39209154
GRCh38: 2:38982013-38982013
33 SOS1 NM_005633.4(SOS1):c.*3750T>C SNV Uncertain significance 896917 GRCh37: 2:39209215-39209215
GRCh38: 2:38982074-38982074
34 SOS1 NM_005633.4(SOS1):c.*3230T>C SNV Uncertain significance 895593 GRCh37: 2:39209735-39209735
GRCh38: 2:38982594-38982594
35 SOS1 NM_005633.4(SOS1):c.*3158T>C SNV Uncertain significance 896997 GRCh37: 2:39209807-39209807
GRCh38: 2:38982666-38982666
36 SOS1 NM_005633.4(SOS1):c.*3149C>T SNV Uncertain significance 896998 GRCh37: 2:39209816-39209816
GRCh38: 2:38982675-38982675
37 SOS1 NM_005633.4(SOS1):c.*3041A>C SNV Uncertain significance 896999 GRCh37: 2:39209924-39209924
GRCh38: 2:38982783-38982783
38 SOS1 NM_005633.4(SOS1):c.*21A>G SNV Uncertain significance 895865 GRCh37: 2:39212944-39212944
GRCh38: 2:38985803-38985803
39 SOS1 NM_005633.4(SOS1):c.2674-7C>T SNV Uncertain significance 895929 GRCh37: 2:39233677-39233677
GRCh38: 2:39006536-39006536
40 SOS1 NM_005633.4(SOS1):c.*1412A>G SNV Uncertain significance 895721 GRCh37: 2:39211553-39211553
GRCh38: 2:38984412-38984412
41 SOS1 NM_005633.4(SOS1):c.*1396G>T SNV Uncertain significance 896004 GRCh37: 2:39211569-39211569
GRCh38: 2:38984428-38984428
42 SOS1 NM_005633.4(SOS1):c.*1391C>T SNV Uncertain significance 896005 GRCh37: 2:39211574-39211574
GRCh38: 2:38984433-38984433
43 SOS1 NM_005633.4(SOS1):c.*559C>T SNV Uncertain significance 896074 GRCh37: 2:39212406-39212406
GRCh38: 2:38985265-38985265
44 SOS1 NM_005633.3(SOS1):c.*544C>T SNV Uncertain significance 336008 rs886056020 GRCh37: 2:39212421-39212421
GRCh38: 2:38985280-38985280
45 SOS1 NM_005633.4(SOS1):c.*2056A>C SNV Uncertain significance 897069 GRCh37: 2:39210909-39210909
GRCh38: 2:38983768-38983768
46 SOS1 NM_005633.4(SOS1):c.*1998G>T SNV Uncertain significance 897070 GRCh37: 2:39210967-39210967
GRCh38: 2:38983826-38983826
47 SOS1 NM_005633.3(SOS1):c.3724dup (p.Ser1242fs) Duplication Uncertain significance 631861 rs1558454973 GRCh37: 2:39213242-39213243
GRCh38: 2:38986101-38986102
48 SOS1 NM_005633.4(SOS1):c.2344A>G (p.Ile782Val) SNV Uncertain significance 931054 GRCh37: 2:39239313-39239313
GRCh38: 2:39012172-39012172
49 SOS1 NM_005633.4(SOS1):c.511-6_511-5del Deletion Uncertain significance 931188 GRCh37: 2:39281969-39281970
GRCh38: 2:39054828-39054829
50 SOS1 NM_005633.4(SOS1):c.1075-16C>T SNV Uncertain significance 932037 GRCh37: 2:39251294-39251294
GRCh38: 2:39024153-39024153

Copy number variations for Fibromatosis, Gingival, 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 143753 2 24000000 36600000 Copy number ALK Hereditary gingival fibromatosis
2 143754 2 24000000 36600000 Copy number SLC35F6 Hereditary gingival fibromatosis

Expression for Fibromatosis, Gingival, 1

Search GEO for disease gene expression data for Fibromatosis, Gingival, 1.

Pathways for Fibromatosis, Gingival, 1

Pathways related to Fibromatosis, Gingival, 1 according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Fibromatosis, Gingival, 1 according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 TGFB1 SOS1 MMP2 MMP1 CD36
2
Show member pathways
13.02 TGFB1 SOS1 MMP1 CD36
3
Show member pathways
12.94 TGFB1 SOS1 MMP2 MMP1 CD36
4
Show member pathways
12.89 TGFB1 SOS1 MMP1 CD36
5 12.48 TGFB1 SOS1 MMP2 MMP1
6
Show member pathways
12.28 TGFB1 SERPINH1 MMP2 MMP1
7
Show member pathways
12.15 TGFB1 SOS1 MMP2 MMP1
8
Show member pathways
12.04 TGFB1 SOS1 MMP2
9 12.02 TGFB1 SOS1 MMP2
10
Show member pathways
11.94 TGFB1 SOS1 MMP1
11 11.7 TGFB1 SOS1 MMP1
12 11.53 MMP1 CD36
13 11.51 MMP2 MMP1
14 11.5 TGFB1 SOS1
15 11.47 TGFB1 SOS1 MMP2 MMP1
16 11.45 TGFB1 CD36
17 11.44 TGFB1 SERPINH1
18
Show member pathways
11.42 MMP2 MMP1
19 11.42 TGFB1 MMP2
20 11.4 MMP2 MMP1
21 11.31 TGFB1 SOS1
22 11.3 TGFB1 CD36
23
Show member pathways
11.23 TGFB1 SOS1 MMP2
24 11.12 MMP2 MMP1
25 11.09 TGFB1 MMP2
26 11.07 MMP2 CD36
27 11.04 TGFB1 SOS1 MMP1
28 10.98 TGFB1 MMP2 MMP1 CD36
29 10.97 SOS1 MMP2
30 10.85 MMP2 MMP1
31 10.71 TGFB1 MMP1

GO Terms for Fibromatosis, Gingival, 1

Cellular components related to Fibromatosis, Gingival, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 TGFB1 SERPINH1 MMP2
2 extracellular matrix GO:0031012 8.8 TGFB1 MMP2 MMP1

Biological processes related to Fibromatosis, Gingival, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.65 TGFB1 SOS1 REST
2 negative regulation of gene expression GO:0010629 9.58 TGFB1 REST CD36
3 extracellular matrix disassembly GO:0022617 9.51 MMP2 MMP1
4 hematopoietic progenitor cell differentiation GO:0002244 9.49 TGFB1 REST
5 positive regulation of protein complex assembly GO:0031334 9.46 TGFB1 MMP1
6 epidermal growth factor receptor signaling pathway GO:0007173 9.43 TGFB1 SOS1
7 leukocyte migration GO:0050900 9.43 TGFB1 SOS1 MMP1
8 collagen catabolic process GO:0030574 9.37 MMP2 MMP1
9 response to hypoxia GO:0001666 9.33 TGFB1 REST MMP2
10 face morphogenesis GO:0060325 9.32 TGFB1 MMP2
11 cytokine-mediated signaling pathway GO:0019221 9.02 TGFB1 SOS1 MMP2 MMP1 CD36
12 cellular response to UV-A GO:0071492 8.96 MMP2 MMP1

Sources for Fibromatosis, Gingival, 1

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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