EEC3
MCID: ECT042
MIFTS: 47

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 (EEC3) malady

Category: Genetic diseases (common)

Aliases & Classifications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Aliases & Descriptions for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 52 70 12 68
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 11 27 13
 
Eec3 11 70
Eec Syndrome 3 11

Characteristics:

HPO:

64
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 604292
Disease Ontology11 DOID:0060783
ICD1030 Q82.4
MedGen37 C1858562

Summaries for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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OMIM:52 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising... (604292) more...

MalaCards based summary: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, is related to adult syndrome and eec syndrome, and has symptoms including photophobia, photophobia and bladder diverticulum. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (Tumor Protein P63), and among its related pathways are Nectin adhesion pathway and Reelin Pathway (Cajal-Retzius cells). Related mouse phenotypes are Apoptosis resistance and Increased cell death HMECs cells.

Disease Ontology:11 An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has material basis in heterozygous mutation in the TP63 gene on chromosome 3q28.

UniProtKB/Swiss-Prot:70 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting.

Related Diseases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1adult syndrome29.1ARID1A, CTNNB1, KRAS, PIK3CA, PPP2R1A, PPP2R5C
2eec syndrome10.8
3hypomyelinating leukodystrophy 1310.2SATB2, TP63
4posteroinferior myocardial infarction10.2ARID1A, PPP2R1A
5gaze palsy, horizontal, with progressive scoliosis10.2SATB2, TP63
6uterine corpus choriocarcinoma10.1PIK3CA, PTEN
73mc syndrome 110.1SATB2, TP63, TP73
8intestinal neuroendocrine benign tumor10.1PIK3CA, PPP2R1A
9verruciform xanthoma of skin10.1PIK3CA, TP53
10glioma susceptibility 210.1PIK3CA, PTEN
11rosacea conjunctivitis10.0TP53, TP63, TP73
12hemorrhagic proctocolitis10.0CTNNB1, PIK3CA
13sclerosing breast papilloma10.0PIK3CA, TP53
14urethral cancer10.0KRAS, PIK3CA
15mediastinum synovial sarcoma10.0ARID1A, PIK3CA, TP53
16childhood-onset cerebral x-linked adrenoleukodystrophy10.0CTNNB1, TP53, TP63
17melanocytic nevus syndrome, congenital, somatic10.0KRAS, PIK3CA
18macrocytic anemia10.0CTNNB1, KRAS
19villoglandular endometrial endometrioid adenocarcinoma9.9PTEN, TP53
20autonomic nervous system neoplasm9.9PTEN, TP53, TP63
21mitochondrial neurogastrointestinal encephalopathy disease9.9KRAS, TP53
22adult oligodendroglioma9.9PTEN, TP53, TP73
23reactive arthritis9.9CTNNB1, PIK3CA, TP53
24infantile thalamic degeneration9.9KRAS, TP53
25herpes simplex encephalitic 69.9CTNNB1, PTEN, TP53
26benign ependymoma9.9KRAS, TP53, TP63
27arthus reaction9.8KRAS, PPP2R1A, TP53
28bardet-biedl syndrome9.8CTNNB1, PTEN, TP53
29nevoid hypermelanosis, linear and whorled9.8CTNNB1, PTEN, TP53
30nemaline myopathy 8, autosomal recessive9.8CTNNB1, KRAS, PIK3CA
31precursor t-lymphoblastic lymphoma/leukemia9.8KRAS, PIK3CA
32plasmacytoma9.8ARID1A, KRAS, TP53
33glucose-6-phosphate translocase deficiency9.8PIK3CA, PTEN, TP53
34postpoliomyelitis syndrome9.8KRAS, TP53
35uterine corpus endometrial stromal sarcoma9.8KRAS, PIK3CA, TP53
36hypogonadotropic hypogonadism 20 with or without anosmia9.8PIK3CA, PTEN, TP53, TP63
37orofaciodigital syndrome iv9.8PTEN, TP53, TP73
38pancreatic cystadenoma9.8KRAS, PIK3CA, TP53
39ocular melanoma9.8CTNNB1, PTEN, TP53, TP63
40ideomotor apraxia9.8CTNNB1, KRAS, TP53
41advanced sleep phase syndrome9.8CTNNB1, KRAS, TP53
42nodular goiter9.8CTNNB1, PTEN, TP53, TP73
43congenital symblepharon9.8CTNNB1, KRAS, TP53
44paroxysmal nocturnal hemoglobinuria9.8CTNNB1, KRAS, TP53
45oral squamous cell carcinoma9.7CTNNB1, KRAS, TP53
46vestibular gland benign neoplasm9.7CTNNB1, KRAS, TP53
47gastroesophageal junction adenocarcinoma9.7CTNNB1, KRAS, TP53
48pearson syndrome9.7CTNNB1, KRAS, TP53
49facial dermatosis9.7CTNNB1, KRAS, TP53
50dental caries9.7ARID1A, KRAS, PIK3CA, TP53

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:



Diseases related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

Symptoms & Phenotypes for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Symptoms by clinical synopsis from OMIM:

604292

Clinical features from OMIM:

604292

Human phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

 64 (show all 50)
id Description HPO Frequency HPO Source Accession
1 bladder diverticulum64 HP:0000015
2 cryptorchidism64 HP:0000028
3 hypogonadotrophic hypogonadism64 HP:0000044
4 micropenis64 HP:0000054
5 ureterocele64 HP:0000070
6 hydroureter64 HP:0000072
7 vesicoureteral reflux64 HP:0000076
8 duplicated collecting system64 HP:0000081
9 renal agenesis64 HP:0000104
10 renal dysplasia64 HP:0000110
11 hydronephrosis64 HP:0000126
12 transverse vaginal septum64 HP:0000145
13 cleft palate64 HP:0000175
14 absence of stensen duct64 HP:0000198
15 cleft upper lip64 HP:0000204
16 xerostomia64 HP:0000217
17 malar flattening64 HP:0000272
18 hypoplasia of the maxilla64 HP:0000327
19 hearing impairment64 HP:0000365
20 depressed nasal tip64 HP:0000437
21 choanal atresia64 HP:0000453
22 blepharitis64 HP:0000498
23 sparse and thin eyebrow64 HP:0000535
24 blepharophimosis64 HP:0000581
25 photophobia64 HP:0000613
26 dacryocystitis64 HP:0000620
27 blue irides64 HP:0000635
28 sparse eyelashes64 HP:0000653
29 carious teeth64 HP:0000670
30 microdontia64 HP:0000691
31 growth hormone deficiency64 HP:0000824
32 central diabetes insipidus64 HP:0000863
33 hyperkeratosis64 HP:0000962
34 ectodermal dysplasia64 HP:0000968
35 split hand64 HP:0001171
36 intellectual disability64 HP:0001249
37 selective tooth agenesis64 HP:0001592
38 abnormality of the nasopharynx64 HP:0001739
39 toe syndactyly64 HP:0001770
40 nail pits64 HP:0001803
41 split foot64 HP:0001839
42 sparse scalp hair64 HP:0002209
43 sparse axillary hair64 HP:0002215
44 sparse pubic hair64 HP:0002225
45 fair hair64 HP:0002286
46 hypoplastic nipples64 HP:0002557
47 generalized hypopigmentation64 HP:0007513
48 nail dystrophy64 HP:0008404
49 microtia64 HP:0008551
50 ectrodactyly64 HP:0100257

UMLS symptoms related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:


photophobia

GenomeRNAi Phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00093-A-010.0PPP2R1A, PPP2R5C, PTEN
2GR00103-A-08.5CTNNB1, PIK3CA, PPP2R1A, PTEN, TP53
3GR00235-A6.2ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, SATB2

MGI Mouse Phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

41 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.6CTNNB1, PTEN, TP63
2MP:00011868.5CTNNB1, KRAS, PTEN, TP53
3MP:00053778.2ARID1A, CTNNB1, KRAS, TP53, TP73
4MP:00053827.7ARID1A, CTNNB1, KRAS, SATB2, TP53, TP63
5MP:00053717.6CTNNB1, KRAS, PTEN, SATB2, TP53, TP63
6MP:00030127.4ARID1A, CTNNB1, KRAS, PIK3CA, TP53, TP63
7MP:00028737.2ARID1A, CTNNB1, KRAS, PPP2R1A, PTEN, TP53
8MP:00107717.1CTNNB1, KRAS, PIK3CA, PTEN, TP53, TP63
9MP:00053887.1CTNNB1, KRAS, PTEN, SATB2, TP53, TP63
10MP:00053697.1ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, TP53
11MP:00053817.0CTNNB1, KRAS, PTEN, SATB2, TP53, TP63
12MP:00053897.0ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, TP53
13MP:00053866.9CTNNB1, KRAS, PIK3CA, PPP2R1A, PTEN, TP53
14MP:00053916.9ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, TP53
15MP:00053846.8ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, TP53
16MP:00053876.7ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, TP53
17MP:00020066.7ARID1A, CTNNB1, KRAS, PIK3CA, PPP2R1A, PTEN
18MP:00053806.5ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, SATB2
19MP:00053906.4ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, SATB2
20MP:00053856.3ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, SATB2
21MP:00053796.1ARID1A, CTNNB1, KRAS, PIK3CA, PTEN, SATB2
22MP:00053766.1ARID1A, CTNNB1, KRAS, PIK3CA, PPP2R1A, PTEN
23MP:00107686.1ARID1A, CTNNB1, KRAS, PIK3CA, PPP2R1A, PTEN
24MP:00053786.0ARID1A, CTNNB1, KRAS, PIK3CA, PPP2R1A, PTEN

Drugs & Therapeutics for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Genetic Tests for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Genetic tests related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

id Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 327

Anatomical Context for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Publications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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UniProtKB/Swiss-Prot genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

70 (show all 18)
id Symbol AA change Variation ID SNP ID
1TP63p.Arg243GlnVAR_020870rs121908836
2TP63p.Arg243TrpVAR_020871rs121908835
3TP63p.Arg318HisVAR_020873rs121908840
4TP63p.Arg319CysVAR_020874rs121908839
5TP63p.Arg343GlnVAR_020876rs121908841
6TP63p.Cys345ArgVAR_020877rs121908837
7TP63p.Asp351GlyVAR_020878rs121908844
8TP63p.Arg266GlnVAR_032738rs121908849
9TP63p.Cys308TyrVAR_032739
10TP63p.Ser311AsnVAR_032740
11TP63p.Arg318CysVAR_032741
12TP63p.Arg318GlnVAR_032742
13TP63p.Arg319HisVAR_032743
14TP63p.Arg319SerVAR_032744
15TP63p.Arg343TrpVAR_032745
16TP63p.Cys347SerVAR_032746
17TP63p.Pro348SerVAR_032747
18TP63p.Asp351HisVAR_032748

Clinvar genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1TP63NM_ 001114978.1(TP63): c.740A> G (p.His247Arg)SNVPathogenicrs864621968GRCh38Chr 3, 189864392: 189864392
2TP63NM_ 003722.4(TP63): c.1037C> G (p.Ala346Gly)SNVPathogenicrs797044484GRCh37Chr 3, 189586413: 189586413
3TP63TP63, ARG227PROSNVPathogenic
4TP63NM_ 003722.4(TP63): c.727C> T (p.Arg243Trp)SNVPathogenicrs121908835GRCh37Chr 3, 189582168: 189582168
5TP63NM_ 003722.4(TP63): c.728G> A (p.Arg243Gln)SNVPathogenicrs121908836GRCh37Chr 3, 189582169: 189582169
6TP63NM_ 003722.4(TP63): c.1033T> C (p.Cys345Arg)SNVPathogenicrs121908837GRCh37Chr 3, 189586409: 189586409
7TP63TP63, 1-BP INS, 1572AinsertionPathogenic
8TP63NM_ 003722.4(TP63): c.953G> A (p.Arg318His)SNVPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
9TP63NM_ 003722.4(TP63): c.1028G> A (p.Arg343Gln)SNVPathogenicrs121908841GRCh37Chr 3, 189586404: 189586404
10TP63NM_ 003722.4(TP63): c.1052A> G (p.Asp351Gly)SNVPathogenicrs121908844GRCh37Chr 3, 189586428: 189586428
11TP63NM_ 003722.4(TP63): c.797G> A (p.Arg266Gln)SNVPathogenicrs121908849GRCh37Chr 3, 189584501: 189584501

Expression for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Search GEO for disease gene expression data for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3.

Pathways for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Pathways related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idSuper pathwaysScoreTop Affiliating Genes
19.5CTNNB1, PIK3CA
29.3CTNNB1, PPP2R1A, PPP2R5C
39.3CTNNB1, PPP2R1A, TP73
4
Show member pathways
9.2PPP2R1A, PPP2R5C, TP53
5
Show member pathways
9.2TP53, TP63, TP73
6
Show member pathways
9.2TP53, TP63, TP73
7
Show member pathways
9.2TP53, TP63, TP73
89.2KRAS, PIK3CA
99.0PTEN, TP53, TP63
10
Show member pathways
9.0KRAS, PPP2R1A, PPP2R5C
11
Show member pathways
9.0KRAS, PPP2R1A, PPP2R5C
12
Show member pathways
9.0CTNNB1, PIK3CA, PTEN
138.9PPP2R1A, TP53, TP63, TP73
148.9PIK3CA, PTEN, TP53
158.9PIK3CA, PTEN, TP53
168.9CTNNB1, PIK3CA, TP53
17
Show member pathways
8.9CTNNB1, PIK3CA, PPP2R1A, PPP2R5C
18
Show member pathways
8.8PIK3CA, PPP2R1A, PPP2R5C, TP53
19
Show member pathways
8.7CTNNB1, PPP2R1A, PPP2R5C, TP53
208.7PTEN, TP53, TP63, TP73
218.7KRAS, PIK3CA, PTEN
22
Show member pathways
8.7KRAS, PIK3CA, PTEN
238.7KRAS, PIK3CA, PTEN
24
Show member pathways
8.7KRAS, PIK3CA, PTEN
258.7CTNNB1, KRAS, PIK3CA
26
Show member pathways
8.6KRAS, PIK3CA, TP53
27
Show member pathways
8.6KRAS, PIK3CA, TP53
28
Show member pathways
8.6KRAS, PIK3CA, PPP2R1A, PPP2R5C
29
Show member pathways
8.6KRAS, PIK3CA, TP53
30
Show member pathways
8.6KRAS, PIK3CA, PPP2R1A, PPP2R5C
31
Show member pathways
8.5KRAS, PTEN, TP53
32
Show member pathways
8.5KRAS, PTEN, TP53
338.5CTNNB1, KRAS, TP53
34
Show member pathways
8.5CTNNB1, KRAS, PPP2R1A, PPP2R5C
358.5CTNNB1, KRAS, TP53
368.5ARID1A, PIK3CA, PTEN, TP53
37
Show member pathways
8.4KRAS, PPP2R1A, PPP2R5C, TP53
388.3KRAS, PIK3CA, PPP2R1A, TP53
39
Show member pathways
8.3PIK3CA, PPP2R1A, PPP2R5C, PTEN, TP53
40
Show member pathways
8.2CTNNB1, KRAS, PIK3CA, PTEN
41
Show member pathways
8.1PPP2R1A, PPP2R5C, PTEN, TP53, TP63, TP73
428.1KRAS, PIK3CA, PTEN, TP53
438.1KRAS, PIK3CA, PTEN, TP53
44
Show member pathways
8.1KRAS, PIK3CA, PTEN, TP53
45
Show member pathways
8.1CTNNB1, KRAS, PIK3CA, TP53
468.1CTNNB1, KRAS, PIK3CA, TP53
478.1CTNNB1, KRAS, PIK3CA, TP53
488.1CTNNB1, KRAS, PIK3CA, TP53
49
Show member pathways
8.1CTNNB1, KRAS, PIK3CA, TP53
50
Show member pathways
8.1CTNNB1, KRAS, PIK3CA, TP53

GO Terms for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Cellular components related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase type 2A complexGO:000015910.4PPP2R1A, PPP2R5C
2transcription factor complexGO:00056678.9CTNNB1, SATB2, TP63, TP73
3mitochondrionGO:00057398.3KRAS, PPP2R1A, PTEN, TP53, TP63, TP73
4nucleoplasmGO:00056547.7ARID1A, CTNNB1, PPP2R5C, PTEN, SATB2, TP53
5cytosolGO:00058297.1CTNNB1, KRAS, PIK3CA, PPP2R1A, PPP2R5C, PTEN

Biological processes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1hair follicle morphogenesisGO:003106910.5CTNNB1, TP63
2positive regulation of mesenchymal cell proliferationGO:000205310.5CTNNB1, TP63
3proximal/distal pattern formationGO:000995410.4CTNNB1, TP63
4negative regulation of cardiac muscle cell proliferationGO:006004410.4PTEN, TP73
5chromatin-mediated maintenance of transcriptionGO:004809610.4ARID1A, CTNNB1
6positive regulation of cell cycle arrestGO:007115810.3TP53, TP73
7chromatin remodelingGO:000633810.2ARID1A, SATB2, TP63
8cellular response to UVGO:003464410.0TP53, TP63, TP73
9DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.0TP53, TP63, TP73
10intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.0TP53, TP63, TP73
11mitotic G1 DNA damage checkpointGO:003157110.0TP53, TP63, TP73
12positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayGO:190074010.0TP53, TP63, TP73
13protein tetramerizationGO:005126210.0TP53, TP63, TP73
14regulation of signal transduction by p53 class mediatorGO:190179610.0TP53, TP63, TP73
15epithelial tube branching involved in lung morphogenesisGO:00604419.9CTNNB1, KRAS
16regulation of synaptic transmission, GABAergicGO:00322289.9KRAS, PTEN
17phosphatidylinositol-mediated signalingGO:00480159.7PIK3CA, PTEN, TP53
18response to gamma radiationGO:00103329.7TP53, TP63, TP73
19negative regulation of neuron apoptotic processGO:00435249.7KRAS, PIK3CA, TP73
20response to X-rayGO:00101659.6TP53, TP63, TP73
21regulation of gene expressionGO:00104689.5CTNNB1, PIK3CA, SATB2, TP73
22vasculature developmentGO:00019449.5CTNNB1, PIK3CA
23regulation of apoptotic processGO:00429819.5CTNNB1, TP53, TP63, TP73
24negative regulation of cell proliferationGO:00082859.3CTNNB1, PPP2R5C, PTEN, TP53
25positive regulation of apoptotic processGO:00430659.3CTNNB1, PTEN, TP53, TP73
26apoptotic processGO:00069159.2PPP2R1A, PTEN, TP53, TP63, TP73
27positive regulation of transcription, DNA-templatedGO:00458939.1ARID1A, CTNNB1, TP53, TP63, TP73
28positive regulation of transcription from RNA polymerase II promoterGO:00459449.1CTNNB1, SATB2, TP53, TP63, TP73
29positive regulation of gene expressionGO:00106288.8CTNNB1, KRAS, PTEN, TP53
30negative regulation of transcription from RNA polymerase II promoterGO:00001228.7ARID1A, CTNNB1, SATB2, TP53, TP63, TP73
31regulation of transcription, DNA-templatedGO:00063558.1ARID1A, CTNNB1, PPP2R1A, SATB2, TP53, TP63

Molecular functions related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1MDM2/MDM4 family protein bindingGO:009737110.7TP63, TP73
2disordered domain specific bindingGO:009771810.2CTNNB1, TP53
3damaged DNA bindingGO:000368410.0TP53, TP63, TP73
4p53 bindingGO:000203910.0TP53, TP63, TP73
5chromatin bindingGO:00036829.1CTNNB1, SATB2, TP53, TP63, TP73
6protein kinase bindingGO:00199019.1CTNNB1, PTEN, TP53, TP73
7transcription regulatory region DNA bindingGO:00442128.7CTNNB1, TP53, TP63, TP73
8protein bindingGO:00055156.2ARID1A, CTNNB1, KRAS, PIK3CA, PPP2R1A, PPP2R5C

Sources for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet