Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 GeneticVariation disease BEFREE We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. 21480479 2011
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 GeneticVariation disease BEFREE Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia. 21306635 2011
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 GeneticVariation disease BEFREE These findings describe, for the first time, variable inner ear malformations and outer ear dysplasia in the presence of constant microdontia, associated with homozygous inheritance of the p.R95W mutation in FGF3, mirroring phenotypes observed in mouse models ablating FGF3/FGFR2 signaling. 19950373 2010
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 GeneticVariation disease BEFREE Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). 18701883 2009
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 GeneticVariation disease BEFREE Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). 18435799 2008
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 GeneticVariation disease BEFREE Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. 17236138 2007
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.160 Biomarker disease HPO
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.110 Biomarker disease BEFREE In conclusion, this study has demonstrated that Trps1 is a positive regulator of cell proliferation in both dental mesenchyme and epithelium, suggesting that the microdontia in TRPS is likely due to decreased cell proliferation in developing tooth organs. 30691926 2019
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B
0.110 GeneticVariation disease BEFREE They also show that WNT10B variants are associated not only with oligodontia and isolated tooth agenesis, but also with microdontia, short tooth roots, dental pulp stones, and taurodontism. 29364501 2018
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.110 GeneticVariation disease BEFREE Clinical characterization of families segregating a PAX9 mutation reveal that all affected individuals were missing the mandibular second molar and their maxillary central incisors are most susceptible to microdontia. 28910570 2018
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A
0.110 GeneticVariation disease BEFREE We report WNT10A mutations in an American family of which four members are affected with isolated hypodontia or microdontia. 21484994 2011
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A
0.110 Biomarker disease HPO
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B
0.110 Biomarker disease HPO
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.110 Biomarker disease HPO
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.110 Biomarker disease HPO
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
0.100 Biomarker disease HPO
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
0.100 Biomarker disease HPO
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
0.100 Biomarker disease HPO
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
0.100 Biomarker disease HPO
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.100 Biomarker disease HPO
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A
0.100 Biomarker disease HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.100 Biomarker disease HPO
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
0.100 Biomarker disease HPO
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
0.100 Biomarker disease HPO
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
0.100 Biomarker disease HPO