MCID: TTH002
MIFTS: 49

Tooth Agenesis malady

Genetic diseases, Oral diseases, Rare diseases categories

Aliases & Classifications for Tooth Agenesis

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Tooth Agenesis, Aliases & Descriptions:

Name: Tooth Agenesis 9 11
Selective Tooth Agenesis 9 47
Oligodontia 9 47
 
Hypodontia 9 43
Tooth Agenesis, Selective 43
Familial Tooth Agenesis 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Oral diseases


Characteristics (Orphanet epidemiological data):

47
selective tooth agenesis:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0050591
ICD9CM27 520.0
Orphanet47 99798
ICD10 via Orphanet26 K00.0

Summaries for Tooth Agenesis

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Wikipedia:63 In dentistry, hypodontia is the condition at which the patient has missing teeth as a result of the... more...

MalaCards based summary: Tooth Agenesis, also known as selective tooth agenesis, is related to ectodermal dysplasia and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including micrognathia, microdontia and reduced number of teeth. An important gene associated with Tooth Agenesis is MSX1 (msh homeobox 1), and among its related pathways are TGF-beta/Smad Signaling and Elastic fibre formation. The compounds bamhi and bromodeoxyuridine have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:9 A tooth disease characterized by failure to develop on or more missing teeth.

Related Diseases for Tooth Agenesis

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Diseases related to Tooth Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 255)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia30.7EDA, EDAR
2ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive30.4EDAR, EDA, EDARADD
3achondroplasia30.3FGF3
4axenfeld-rieger syndrome, type 330.3TGFA, PITX2
5hypohidrosis30.0EDARADD, EDA, EDAR
6cleft lip29.9BMP4, MSX1, IRF6, PAX9, TGFA, FGFR1
7holoprosencephaly29.5BMP4, MNX1
8tooth agenesis, selective, 1, with or without orofacial cleft10.6
9tooth agenesis, selective, x-linked 110.4
10tooth agenesis, selective, 410.4
11tooth agenesis, selective, 310.4
12tooth agenesis, selective, 210.4
13tooth agenesis, selective, 610.4
14leukodystrophy with oligodontia10.3
15tooth agenesis, selective, 510.3
16dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.3
17oligodontia-colorectal cancer syndrome10.3
18anophthalmia/microphthalmia10.3PITX2
19ectodermal dysplasia 3, witkop type10.3
20microdontia hypodontia short stature10.3
21down syndrome10.3
22orofacial cleft10.3
23leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism10.2
24hypochondroplasia10.2FGF3, FGFR1
25dentinogenesis imperfecta10.2MMP20, MSX1
26dentin dysplasia10.2MMP20, PAX9, MSX1
27ectodermal dysplasia 2, clouston type10.2EDARADD, EDAR
28schopf-schulz-passarge syndrome10.2
29adult syndrome10.2
30pol iii-related leukodystrophies10.2
31hypotrichosis10.2
32hypodontia, x-linked10.2
33epidermolysis bullosa simplex with anodontia/hypodontia10.2
34colorectal cancer10.2
35taurodontism10.2
36cleft lip palate oligodontia syndactyly pili torti10.2
37syringomas natal teeth oligodontia10.2
38van der woude syndrome10.1
39amelogenesis imperfecta10.1
40congenital heart disease ptosis hypodontia craniostosis10.1
41oligodontia - cancer predisposition syndrome10.1
42ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.1
43hypogonadotropism10.1
44hypogonadism10.1
45hypodontia of incisors and premolars10.1
46seckel syndrome 110.0
47ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.0
48oculodentodigital dysplasia10.0
49velocardiofacial syndrome10.0
50otopalatodigital syndrome, type i10.0

Graphical network of the top 20 diseases related to Tooth Agenesis:



Diseases related to tooth agenesis

Symptoms for Tooth Agenesis

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Symptoms:

 47 (show all 8)
  • face/facial anomalies
  • hypoplastic mandibula/partial absence of the mandibula
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance

HPO human phenotypes related to Tooth Agenesis:

id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 microdontia hallmark (90%) HP:0000691
3 reduced number of teeth hallmark (90%) HP:0009804

Drugs & Therapeutics for Tooth Agenesis

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Drug clinical trials:

Search ClinicalTrials for Tooth Agenesis

Search NIH Clinical Center for Tooth Agenesis

Genetic Tests for Tooth Agenesis

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Anatomical Context for Tooth Agenesis

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MalaCards organs/tissues related to Tooth Agenesis:

31
Bone, Heart

Animal Models for Tooth Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Tooth Agenesis:

35 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6EDA, EDARADD, EDAR, PITX2
2MP:00053778.5EDARADD, PAX9, IRF6, MSX1, BMP4, FGF3
3MP:00030128.5FGFR1, FGF3, AXIN2, BMP4, PITX2
4MP:00053808.2PITX2, PAX9, MSX1, BMP4, AXIN2, FGF3
5MP:00053888.2EDA, EDARADD, PITX2, MNX1, PAX9, MSX1
6MP:00028738.2PITX2, MNX1, PAX9, BMP4, AXIN2, FGF3
7MP:00053698.1PITX2, MNX1, TGFA, PAX9, MSX1, BMP4
8MP:00053877.9EDA, PITX2, MNX1, TGFA, PAX9, LTBP3
9MP:00053917.9EDA, EDARADD, PITX2, TGFA, MSX1, BMP4
10MP:00053867.8EDARADD, MNX1, PAX9, MSX1, BMP4, LTBP3
11MP:00053857.8EDA, PITX2, MNX1, TGFA, MSX1, BMP4
12MP:00107717.7EDA, EDARADD, EDAR, TGFA, IRF6, MSX1
13MP:00053897.6EDA, EDARADD, PITX2, TGFA, PAX9, CHDH
14MP:00036317.4EDA, EDARADD, PITX2, MNX1, MSX1, BMP4
15MP:00053846.9EDAR, PITX2, MNX1, IRF6, CHDH, BMP4
16MP:00053816.8MNX1, PITX2, EDAR, EDA, TGFA, PAX9
17MP:00053906.8PAX9, TGFA, MNX1, PITX2, EDA, IRF6
18MP:00053716.8EDA, EDARADD, EDAR, PITX2, PAX9, IRF6
19MP:00053786.8TGFA, MNX1, PITX2, EDARADD, EDA, PAX9
20MP:00053796.6EDA, EDARADD, EDAR, PITX2, MNX1, TGFA
21MP:00107686.2EDA, EDARADD, EDAR, PITX2, MNX1, PAX9
22MP:00053826.2FGFR1, EDA, EDARADD, EDAR, PITX2, TGFA

Publications for Tooth Agenesis

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Articles related to Tooth Agenesis:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Prevalence of Tooth Agenesis in Adolescent Chinese Populations with or without Orthodontics. (25815384)
2015
2
Prevalence and patterns of tooth agenesis among Malay children. (24968691)
2014
3
Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population. (24737523)
2014
4
Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis. (25203534)
2014
5
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study. (25041097)
2014
6
WNT10A variants are associated with non-syndromic tooth agenesis in the general population. (24043634)
2014
7
A study of prevalence and distribution of tooth agenesis. (25713620)
2014
8
Colorectal cancer and self-reported tooth agenesis. (24607150)
2014
9
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis. (25101640)
2014
10
MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis. (24103583)
2013
11
The impact of tooth agenesis on oral health-related quality of life in children. (23794692)
2013
12
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population. (24278334)
2013
13
Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees. (23598609)
2013
14
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. (23167694)
2013
15
PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. (24160254)
2013
16
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review. (23235129)
2012
17
TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis. (22191848)
2012
18
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. (23227268)
2012
19
Tooth agenesis: newer concept. (22900446)
2011
20
Msx1 mutations: how do they cause tooth agenesis? (21297014)
2011
21
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (19623212)
2010
22
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
23
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
24
Defining subphenotypes for tooth agenesis: does side matter? (20297711)
2009
25
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. (18683894)
2009
26
Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis. (19515060)
2009
27
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). (18545687)
2008
28
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (18657636)
2008
29
Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. (18452891)
2008
30
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (18353002)
2008
31
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (18199077)
2008
32
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. (19641755)
2008
33
Can persistence of primary molars be predicted in subjects with multiple tooth agenesis? (18540013)
2008
34
Research advances in tooth agenesis]. (17304318)
2007
35
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (17318851)
2007
36
A numeric code for identifying patterns of human tooth agenesis: a new approach. (16630299)
2006
37
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. (16479262)
2006
38
Maxillary canine anomalies and tooth agenesis. (16093260)
2005
39
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. (14607846)
2004
40
Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. (12598542)
2003
41
Tooth agenesis: a report of missing molars in two generations. (12924990)
2003
42
Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. (12974677)
2003
43
The role of MSX1 in human tooth agenesis. (12097313)
2002
44
Is tooth agenesis related to brainstem anomalies in myelomeningocele patients with Chiari II malformations? (12512882)
2002
45
The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. (10842107)
2000
46
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)
2000
47
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. (9742121)
1998
48
Can the location of tooth agenesis and the location of initial bone loss seen in juvenile periodontitis be explained by neural developmental fields in the jaws? (9083580)
1997
49
Site-specificity of tooth agenesis in subjects with maxillary canine malpositions. (8974184)
1996
50
Prevalence of tooth agenesis correlated with jaw relationship and dental crowding. (3463196)
1986

Variations for Tooth Agenesis

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Clinvar genetic disease variations for Tooth Agenesis:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.193C> G (p.Arg65Gly)single nucleotide variantPathogenicrs132630319GRCh37Chr X, 68836345: 68836345
2EDANM_001399.4(EDA): c.1072C> G (p.Gln358Glu)single nucleotide variantPathogenicrs132630320GRCh37Chr X, 69255355: 69255355
3EDANM_001399.4(EDA): c.1013C> T (p.Thr338Met)single nucleotide variantPathogenicrs132630321GRCh37Chr X, 69255296: 69255296
4PAX9PAX9, 1-BP INS, 219GinsertionPathogenic
5PAX9NM_006194.3(PAX9): c.340A> T (p.Lys114Ter)single nucleotide variantPathogenicrs104894467GRCh37Chr 14, 37132437: 37132437
6PAX9PAX9, DELdeletionPathogenic
7PAX9NM_006194.3(PAX9): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicrs28933373GRCh37Chr 14, 37132368: 37132368
8PAX9NM_006194.3(PAX9): c.62T> C (p.Leu21Pro)single nucleotide variantPathogenicrs28933970GRCh37Chr 14, 37132159: 37132159
9PAX9PAX9, 288-BP INSinsertionPathogenic
10PAX9NM_006194.3(PAX9): c.83G> C (p.Arg28Pro)single nucleotide variantPathogenicrs28933971GRCh37Chr 14, 37132180: 37132180
11PAX9NM_006194.3(PAX9): c.76C> T (p.Arg26Trp)single nucleotide variantPathogenicrs28933972GRCh37Chr 14, 37132173: 37132173
12PAX9NM_006194.3(PAX9): c.259A> T (p.Ile87Phe)single nucleotide variantPathogenicrs104894468GRCh37Chr 14, 37132356: 37132356
13PAX9PAX9, 1-BP INS, 793CinsertionPathogenic
14PAX9PAX9, 1A-Gsingle nucleotide variantPathogenic
15PAX9PAX9, 3-BP DEL, 24-BP INS, NT619indelPathogenic
16PAX9NM_006194.3(PAX9): c.151G> A (p.Gly51Ser)single nucleotide variantPathogenicrs104894469GRCh37Chr 14, 37132248: 37132248
17PAX9PAX9, 1-BP INS, 190GinsertionPathogenic
18PAX9NM_006194.3(PAX9): c.139C> T (p.Arg47Trp)single nucleotide variantPathogenicrs121917720GRCh37Chr 14, 37132236: 37132236
19WNT10ANM_025216.2(WNT10A): c.637G> A (p.Gly213Ser)single nucleotide variantPathogenicGRCh37Chr 2, 219754966: 219754966
20MSX1NM_002448.3(MSX1): c.605G> C (p.Arg202Pro)single nucleotide variantPathogenicrs121913129GRCh37Chr 4, 4864563: 4864563
21MSX1NM_002448.3(MSX1): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs104893850GRCh37Chr 4, 4864535: 4864535
22MSX1NM_002448.3(MSX1): c.200T> A (p.Met67Lys)single nucleotide variantPathogenicrs121913130GRCh37Chr 4, 4861826: 4861826
23MSX1MSX1, 1-BP DUP, 62GduplicationPathogenic
24WNT10ANM_025216.2(WNT10A): c.649G> A (p.Asp217Asn)single nucleotide variantPathogenicrs146902156GRCh37Chr 2, 219754978: 219754978
25WNT10AWNT10A, GLY95LYSundetermined variantPathogenic
26WNT10ANM_025216.2(WNT10A): c.682T> A (p.Phe228Ile)single nucleotide variantPathogenicrs121908120GRCh37Chr 2, 219755011: 219755011
27WNT10ANM_025216.2(WNT10A): c.383G> A (p.Arg128Gln)single nucleotide variantPathogenicrs121908121GRCh37Chr 2, 219754712: 219754712
28LTBP3NM_001130144.2(LTBP3): c.2322C> G (p.Tyr774Ter)single nucleotide variantPathogenicrs121909145GRCh37Chr 11, 65313944: 65313944

Expression for genes affiliated with Tooth Agenesis

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Search GEO for disease gene expression data for Tooth Agenesis.

Pathways for genes affiliated with Tooth Agenesis

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Pathways related to Tooth Agenesis according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6BMP4, PAX9
2
Show member pathways
9.6LTBP3, BMP4
39.6FGFR1, WNT10A, FGF3
4
Show member pathways
Signaling Pathways in Glioblastoma36
9.5FGFR1, FGF3, TGFA
5
Show member pathways
9.4AXIN2, BMP4, WNT10A
69.4AXIN2, BMP4, WNT10A
79.1AXIN2, BMP4, MSX1, FGFR1
8
Show member pathways
9.0FGFR1, LTBP3, BMP4, TGFA
9
Show member pathways
9.0LTBP3, BMP4, TGFA, FGFR1
10
Show member pathways
9.0BMP4, LTBP3, FGFR1, TGFA
11
Show member pathways
9.0TGFA, BMP4, LTBP3, FGFR1
12
Show member pathways
9.0BMP4, LTBP3, TGFA, FGFR1
13
Show member pathways
9.0BMP4, FGFR1, LTBP3, TGFA
14
Show member pathways
9.0FGFR1, BMP4, TGFA, LTBP3
15
Show member pathways
9.0BMP4, TGFA, FGFR1, LTBP3
16
Show member pathways
8.8FGFR1, LTBP3, BMP4, WNT10A, TGFA
17
Show member pathways
8.6FGF3, BMP4, LTBP3, FGFR1, TGFA
188.4WNT10A, AXIN2, FGFR1, FGF3, TGFA, BMP4
19
Show member pathways
8.2BMP4, TGFA, MMP20, LTBP3, FGF3, FGFR1

Compounds for genes affiliated with Tooth Agenesis

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Tooth Agenesis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1bamhi439.9FGF3, TGFA
2bromodeoxyuridine439.4TGFA, BMP4, FGFR1
3agar439.4TGFA, FGF3, FGFR1
4ribonucleic acid439.2FGFR1, BMP4, TGFA
5heparin43 28 24 1211.9FGFR1, FGF3, BMP4, TGFA
6oligonucleotide438.6FGFR1, FGF3, BMP4, TGFA, PITX2
7retinoic acid43 249.6MNX1, TGFA, MSX1, BMP4, FGFR1
8steroid438.6FGFR1, FGF3, BMP4, TGFA
9serine438.3PITX2, TGFA, MMP20, BMP4, AXIN2, FGFR1

GO Terms for genes affiliated with Tooth Agenesis

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Cellular components related to Tooth Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.2BMP4, WNT10A, MMP20
2extracellular regionGO:00055768.0FGFR1, FGF3, LTBP3, BMP4, WNT10A, MMP20

Biological processes related to Tooth Agenesis according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1regulation of odontogenesisGO:004248110.4MSX1, PAX9
2trachea gland developmentGO:006115310.3EDA, EDARADD
3bone morphogenesisGO:006034910.3MSX1, LTBP3
4middle ear morphogenesisGO:004247410.2MSX1, FGFR1
5face morphogenesisGO:006032510.2PAX9, MSX1
6organ inductionGO:000175910.1FGF3, FGFR1
7midbrain developmentGO:003090110.0FGFR1, MSX1
8regulation of odontogenesis of dentin-containing toothGO:004248710.0BMP4, WNT10A
9negative regulation of chondrocyte differentiationGO:00323319.9BMP4, LTBP3
10positive regulation of BMP signaling pathwayGO:00305139.9BMP4, MSX1
11protein localization to nucleusGO:00345049.9BMP4, MSX1
12positive regulation of cell deathGO:00109429.9BMP4, AXIN2
13pituitary gland developmentGO:00219839.9BMP4, MSX1
14salivary gland cavitationGO:00606629.8EDAR, EDA
15deltoid tuberosity developmentGO:00359939.8PITX2, BMP4
16positive regulation of NF-kappaB import into nucleusGO:00423469.7EDAR, EDA
17pigmentationGO:00434739.7EDA, EDAR
18dorsal/ventral neural tube patterningGO:00219049.7MNX1, BMP4
19epidermal growth factor receptor signaling pathwayGO:00071739.7TGFA, FGF3, FGFR1
20cellular response to growth factor stimulusGO:00713639.6BMP4, PAX9
21embryonic hindlimb morphogenesisGO:00351169.6BMP4, MSX1, PITX2
22neuron migrationGO:00017649.5PITX2, MNX1, FGFR1
23hair follicle developmentGO:00019429.5EDARADD, EDAR, WNT10A
24in utero embryonic developmentGO:00017019.5PITX2, MSX1, FGFR1
25negative regulation of cell proliferationGO:00082859.5AXIN2, BMP4, MSX1, IRF6
26chondrocyte differentiationGO:00020629.5FGFR1, BMP4
27ureteric bud developmentGO:00016579.3FGFR1, BMP4
28odontogenesisGO:00424769.1PITX2, PAX9, WNT10A, BMP4, AXIN2
29negative regulation of transcription from RNA polymerase II promoterGO:00001229.0FGFR1, BMP4, MSX1, PITX2
30odontogenesis of dentin-containing toothGO:00424758.3BMP4, MSX1, PITX2, EDAR, EDARADD, EDA

Molecular functions related to Tooth Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.2FGF3, BMP4, TGFA
2protein bindingGO:00055155.9FGFR1, EDA, EDAR, PITX2, TGFA, PAX9

Products for genes affiliated with Tooth Agenesis

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  • Antibodies
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Sources for Tooth Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet