EEC3
MCID: ECT042
MIFTS: 47

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

Categories: Genetic diseases

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

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

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 54 66 13 69
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 12 29 14
Eec3 12 66
Eec Syndrome 3 12

Characteristics:

HPO:

32
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604292
Disease Ontology 12 DOID:0060783
ICD10 33 Q82.4
MedGen 40 C1858562
UMLS 69 C0406704

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

OMIM : 54 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, malar flattening and intellectual disability. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and GAB1 signalosome. Related phenotypes are Decreased viability in esophageal squamous lineage and Apoptosis resistance

Disease Ontology : 12 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 : 66 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 Syndrome...

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)
id Related Disease Score Top Affiliating Genes
1 adult syndrome 29.1 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C
2 eec syndrome 10.8
3 hypomyelinating leukodystrophy 13 10.2 SATB2 TP63
4 posteroinferior myocardial infarction 10.2 ARID1A PPP2R1A
5 gaze palsy, horizontal, with progressive scoliosis 10.2 SATB2 TP63
6 uterine corpus choriocarcinoma 10.1 PIK3CA PTEN
7 3mc syndrome 1 10.1 SATB2 TP63 TP73
8 intestinal neuroendocrine benign tumor 10.1 PIK3CA PPP2R1A
9 verruciform xanthoma of skin 10.1 PIK3CA TP53
10 glioma susceptibility 2 10.1 PIK3CA PTEN
11 rosacea conjunctivitis 10.0 TP53 TP63 TP73
12 hemorrhagic proctocolitis 10.0 CTNNB1 PIK3CA
13 sclerosing breast papilloma 10.0 PIK3CA TP53
14 urethral cancer 10.0 KRAS PIK3CA
15 mediastinum synovial sarcoma 10.0 ARID1A PIK3CA TP53
16 childhood-onset cerebral x-linked adrenoleukodystrophy 10.0 CTNNB1 TP53 TP63
17 melanocytic nevus syndrome, congenital, somatic 10.0 KRAS PIK3CA
18 macrocytic anemia 10.0 CTNNB1 KRAS
19 villoglandular endometrial endometrioid adenocarcinoma 9.9 PTEN TP53
20 autonomic nervous system neoplasm 9.9 PTEN TP53 TP63
21 mitochondrial neurogastrointestinal encephalopathy disease 9.9 KRAS TP53
22 adult oligodendroglioma 9.9 PTEN TP53 TP73
23 reactive arthritis 9.9 CTNNB1 PIK3CA TP53
24 infantile thalamic degeneration 9.9 KRAS TP53
25 herpes simplex encephalitic 6 9.9 CTNNB1 PTEN TP53
26 benign ependymoma 9.9 KRAS TP53 TP63
27 arthus reaction 9.8 KRAS PPP2R1A TP53
28 bardet-biedl syndrome 9.8 CTNNB1 PTEN TP53
29 nevoid hypermelanosis, linear and whorled 9.8 CTNNB1 PTEN TP53
30 nemaline myopathy 8, autosomal recessive 9.8 CTNNB1 KRAS PIK3CA
31 precursor t-lymphoblastic lymphoma/leukemia 9.8 KRAS PIK3CA
32 plasmacytoma 9.8 ARID1A KRAS TP53
33 glucose-6-phosphate translocase deficiency 9.8 PIK3CA PTEN TP53
34 postpoliomyelitis syndrome 9.8 KRAS TP53
35 uterine corpus endometrial stromal sarcoma 9.8 KRAS PIK3CA TP53
36 hypogonadotropic hypogonadism 20 with or without anosmia 9.8 PIK3CA PTEN TP53 TP63
37 orofaciodigital syndrome iv 9.8 PTEN TP53 TP73
38 pancreatic cystadenoma 9.8 KRAS PIK3CA TP53
39 ocular melanoma 9.8 CTNNB1 PTEN TP53 TP63
40 ideomotor apraxia 9.8 CTNNB1 KRAS TP53
41 advanced sleep phase syndrome 9.8 CTNNB1 KRAS TP53
42 nodular goiter 9.8 CTNNB1 PTEN TP53 TP73
43 congenital symblepharon 9.8 CTNNB1 KRAS TP53
44 paroxysmal nocturnal hemoglobinuria 9.8 CTNNB1 KRAS TP53
45 oral squamous cell carcinoma 9.7 CTNNB1 KRAS TP53
46 vestibular gland benign neoplasm 9.7 CTNNB1 KRAS TP53
47 gastroesophageal junction adenocarcinoma 9.7 CTNNB1 KRAS TP53
48 pearson syndrome 9.7 CTNNB1 KRAS TP53
49 facial dermatosis 9.7 CTNNB1 KRAS TP53
50 dental caries 9.7 ARID1A 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 Syndrome...

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:

32 (show all 50)
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 malar flattening 32 HP:0000272
3 intellectual disability 32 HP:0001249
4 hearing impairment 32 HP:0000365
5 carious teeth 32 HP:0000670
6 microtia 32 HP:0008551
7 cleft palate 32 HP:0000175
8 hyperkeratosis 32 HP:0000962
9 nail dystrophy 32 HP:0008404
10 microdontia 32 HP:0000691
11 cryptorchidism 32 HP:0000028
12 hypogonadotrophic hypogonadism 32 HP:0000044
13 blepharitis 32 HP:0000498
14 hypoplasia of the maxilla 32 HP:0000327
15 blue irides 32 HP:0000635
16 xerostomia 32 HP:0000217
17 vesicoureteral reflux 32 HP:0000076
18 choanal atresia 32 HP:0000453
19 sparse scalp hair 32 HP:0002209
20 generalized hypopigmentation 32 HP:0007513
21 split hand 32 HP:0001171
22 bladder diverticulum 32 HP:0000015
23 blepharophimosis 32 HP:0000581
24 toe syndactyly 32 HP:0001770
25 cleft upper lip 32 HP:0000204
26 hydronephrosis 32 HP:0000126
27 hydroureter 32 HP:0000072
28 hypoplastic nipples 32 HP:0002557
29 depressed nasal tip 32 HP:0000437
30 ectrodactyly 32 HP:0100257
31 nail pits 32 HP:0001803
32 micropenis 32 HP:0000054
33 renal agenesis 32 HP:0000104
34 sparse eyelashes 32 HP:0000653
35 dacryocystitis 32 HP:0000620
36 sparse pubic hair 32 HP:0002225
37 sparse axillary hair 32 HP:0002215
38 renal dysplasia 32 HP:0000110
39 split foot 32 HP:0001839
40 ureterocele 32 HP:0000070
41 duplicated collecting system 32 HP:0000081
42 growth hormone deficiency 32 HP:0000824
43 ectodermal dysplasia 32 HP:0000968
44 selective tooth agenesis 32 HP:0001592
45 central diabetes insipidus 32 HP:0000863
46 fair hair 32 HP:0002286
47 abnormality of the nasopharynx 32 HP:0001739
48 sparse and thin eyebrow 32 HP:0000535
49 absence of stensen duct 32 HP:0000198
50 transverse vaginal septum 32 HP:0000145

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.56 TP53 TP63 ARID1A CTNNB1 KRAS PIK3CA
2 Apoptosis resistance GR00093-A-0 9.33 PPP2R1A PPP2R5C PTEN
3 Increased cell death HMECs cells GR00103-A-0 9.02 CTNNB1 PIK3CA PPP2R1A PTEN TP53

MGI Mouse Phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

44 (show all 24)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 PIK3CA PPP2R1A PTEN SATB2 TP53 TP63
2 cardiovascular system MP:0005385 10.26 ARID1A CTNNB1 KRAS PIK3CA PTEN SATB2
3 homeostasis/metabolism MP:0005376 10.25 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PTEN
4 embryo MP:0005380 10.24 ARID1A CTNNB1 KRAS PIK3CA PTEN SATB2
5 endocrine/exocrine gland MP:0005379 10.23 ARID1A CTNNB1 KRAS PIK3CA PTEN SATB2
6 behavior/neurological MP:0005386 10.22 CTNNB1 KRAS PIK3CA PPP2R1A PTEN TP53
7 cellular MP:0005384 10.21 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
8 mortality/aging MP:0010768 10.19 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PTEN
9 craniofacial MP:0005382 10.14 ARID1A CTNNB1 KRAS SATB2 TP53 TP63
10 digestive/alimentary MP:0005381 10.14 TP73 CTNNB1 KRAS PTEN SATB2 TP53
11 immune system MP:0005387 10.14 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
12 neoplasm MP:0002006 10.11 TP53 TP63 TP73 ARID1A CTNNB1 KRAS
13 muscle MP:0005369 10.02 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
14 integument MP:0010771 10 CTNNB1 KRAS PIK3CA PTEN TP53 TP63
15 limbs/digits/tail MP:0005371 9.99 KRAS PTEN SATB2 TP53 TP63 CTNNB1
16 hearing/vestibular/ear MP:0005377 9.96 TP53 TP73 ARID1A CTNNB1 KRAS
17 normal MP:0002873 9.95 ARID1A CTNNB1 KRAS PPP2R1A PTEN TP53
18 reproductive system MP:0005389 9.92 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
19 no phenotypic analysis MP:0003012 9.91 ARID1A CTNNB1 KRAS PIK3CA TP53 TP63
20 skeleton MP:0005390 9.81 TP73 ARID1A CTNNB1 KRAS PIK3CA PTEN
21 respiratory system MP:0005388 9.8 CTNNB1 KRAS PTEN SATB2 TP53 TP63
22 pigmentation MP:0001186 9.67 CTNNB1 KRAS PTEN TP53
23 vision/eye MP:0005391 9.23 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
24 taste/olfaction MP:0005394 9.13 CTNNB1 PTEN TP63

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

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

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

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 3 29

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

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

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

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

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 TP63 p.Arg243Gln VAR_020870 rs121908836
2 TP63 p.Arg243Trp VAR_020871 rs121908835
3 TP63 p.Arg318His VAR_020873 rs121908840
4 TP63 p.Arg319Cys VAR_020874 rs121908839
5 TP63 p.Arg343Gln VAR_020876 rs121908841
6 TP63 p.Cys345Arg VAR_020877 rs121908837
7 TP63 p.Asp351Gly VAR_020878 rs121908844
8 TP63 p.Arg266Gln VAR_032738 rs121908849
9 TP63 p.Cys308Tyr VAR_032739
10 TP63 p.Ser311Asn VAR_032740
11 TP63 p.Arg318Cys VAR_032741
12 TP63 p.Arg318Gln VAR_032742
13 TP63 p.Arg319His VAR_032743
14 TP63 p.Arg319Ser VAR_032744
15 TP63 p.Arg343Trp VAR_032745
16 TP63 p.Cys347Ser VAR_032746
17 TP63 p.Pro348Ser VAR_032747
18 TP63 p.Asp351His VAR_032748

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh37 Chromosome 3, 189582168: 189582168
2 TP63 NM_003722.4(TP63): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs121908836 GRCh37 Chromosome 3, 189582169: 189582169
3 TP63 NM_003722.4(TP63): c.1033T> C (p.Cys345Arg) single nucleotide variant Pathogenic rs121908837 GRCh37 Chromosome 3, 189586409: 189586409
4 TP63 TP63, 1-BP INS, 1572A insertion Pathogenic
5 TP63 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh37 Chromosome 3, 189585692: 189585692
6 TP63 NM_003722.4(TP63): c.1028G> A (p.Arg343Gln) single nucleotide variant Pathogenic rs121908841 GRCh37 Chromosome 3, 189586404: 189586404
7 TP63 NM_003722.4(TP63): c.1052A> G (p.Asp351Gly) single nucleotide variant Pathogenic rs121908844 GRCh37 Chromosome 3, 189586428: 189586428
8 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
9 TP63 TP63, ARG227PRO single nucleotide variant Pathogenic
10 TP63 NM_001114978.1(TP63): c.740A> G (p.His247Arg) single nucleotide variant Pathogenic rs864621968 GRCh38 Chromosome 3, 189864392: 189864392
11 TP63 NM_003722.4(TP63): c.1037C> G (p.Ala346Gly) single nucleotide variant Pathogenic rs797044484 GRCh37 Chromosome 3, 189586413: 189586413

Expression for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

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

Pathways for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

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

(show top 50) (show all 65)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
2
Show member pathways
13.02 PIK3CA PPP2R1A PPP2R5C PTEN TP53
3
Show member pathways
12.93 CTNNB1 KRAS PIK3CA PTEN TP53
4
Show member pathways
12.83 CTNNB1 KRAS PPP2R1A PPP2R5C PTEN
5
Show member pathways
12.82 PPP2R1A PPP2R5C PTEN TP53 TP63 TP73
6
Show member pathways
12.81 KRAS PIK3CA PPP2R1A PTEN TP53
7
Show member pathways
12.73 CTNNB1 KRAS PPP2R1A PPP2R5C
8
Show member pathways
12.72 CTNNB1 KRAS PIK3CA PTEN
9
Show member pathways
12.72 KRAS PIK3CA TP53 TP63 TP73
10
Show member pathways
12.69 KRAS PIK3CA PPP2R1A PPP2R5C
11
Show member pathways
12.59 KRAS PPP2R1A PPP2R5C TP53
12 12.58 CTNNB1 KRAS PIK3CA PTEN TP53
13
Show member pathways
12.57 CTNNB1 KRAS PIK3CA PTEN TP53 TP73
14
Show member pathways
12.52 CTNNB1 KRAS PIK3CA TP53
15
Show member pathways
12.48 CTNNB1 KRAS PIK3CA TP53
16
Show member pathways
12.48 CTNNB1 PPP2R1A PPP2R5C TP53
17
Show member pathways
12.44 KRAS PIK3CA PTEN TP53
18 12.43 PPP2R1A TP53 TP63 TP73
19
Show member pathways
12.38 CTNNB1 KRAS PIK3CA TP53
20
Show member pathways
12.37 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
21
Show member pathways
12.36 PIK3CA PPP2R1A PPP2R5C TP53
22 12.35 KRAS PIK3CA PTEN TP53 TP63
23 12.34 CTNNB1 KRAS PIK3CA TP53
24
Show member pathways
12.27 KRAS PIK3CA PPP2R1A PPP2R5C
25 12.21 CTNNB1 KRAS PIK3CA TP53
26
Show member pathways
12.18 CTNNB1 KRAS PIK3CA PTEN TP53
27 12.17 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
28
Show member pathways
12.14 CTNNB1 PIK3CA PPP2R1A PPP2R5C
29 12.12 CTNNB1 KRAS TP53
30
Show member pathways
12.12 KRAS PTEN TP53
31
Show member pathways
12.11 KRAS PIK3CA TP53
32 12.09 CTNNB1 PPP2R1A TP73
33 12.08 CTNNB1 KRAS PTEN TP53
34
Show member pathways
12.07 KRAS PIK3CA PTEN
35
Show member pathways
12.07 KRAS PIK3CA TP53
36
Show member pathways
12.05 CTNNB1 PIK3CA PTEN
37
Show member pathways
12.03 KRAS PIK3CA TP53
38 12.03 CTNNB1 PIK3CA TP53
39 12.03 CTNNB1 KRAS PIK3CA
40 12.03 KRAS PIK3CA PTEN TP53
41
Show member pathways
12.02 KRAS PIK3CA PTEN
42 12.01 KRAS PTEN TP53
43 11.98 KRAS PIK3CA PTEN
44 11.98 PTEN TP53 TP63 TP73
45 11.97 KRAS PIK3CA PPP2R1A TP53
46
Show member pathways
11.96 TP53 TP63 TP73
47
Show member pathways
11.96 KRAS PPP2R1A PPP2R5C
48 11.9 CTNNB1 PPP2R1A PPP2R5C
49
Show member pathways
11.89 TP53 TP63 TP73
50 11.88 CTNNB1 KRAS PIK3CA TP53

GO Terms for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
2 mitochondrion GO:0005739 9.73 KRAS PPP2R1A PTEN TP53 TP63 TP73
3 nucleoplasm GO:0005654 9.56 ARID1A CTNNB1 PPP2R5C PTEN SATB2 TP53
4 protein phosphatase type 2A complex GO:0000159 9.32 PPP2R1A PPP2R5C
5 transcription factor complex GO:0005667 8.92 CTNNB1 SATB2 TP63 TP73

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.93 PPP2R1A PTEN TP53 TP63 TP73
2 negative regulation of cell proliferation GO:0008285 9.91 CTNNB1 PPP2R5C PTEN TP53
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 ARID1A CTNNB1 TP53 TP63 TP73
4 positive regulation of gene expression GO:0010628 9.88 CTNNB1 KRAS PTEN TP53
5 positive regulation of apoptotic process GO:0043065 9.87 CTNNB1 PTEN TP53 TP73
6 regulation of apoptotic process GO:0042981 9.8 CTNNB1 TP53 TP63 TP73
7 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.8 ARID1A CTNNB1 SATB2 TP53 TP63 TP73
8 negative regulation of neuron apoptotic process GO:0043524 9.79 KRAS PIK3CA TP73
9 regulation of gene expression GO:0010468 9.78 CTNNB1 PIK3CA SATB2 TP73
10 regulation of signal transduction by p53 class mediator GO:1901796 9.77 TP53 TP63 TP73
11 phosphatidylinositol-mediated signaling GO:0048015 9.77 PIK3CA PTEN TP53
12 chromatin remodeling GO:0006338 9.7 ARID1A SATB2 TP63
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 CTNNB1 TP63
14 hair follicle morphogenesis GO:0031069 9.65 CTNNB1 TP63
15 positive regulation of cell cycle arrest GO:0071158 9.64 TP53 TP73
16 proximal/distal pattern formation GO:0009954 9.63 CTNNB1 TP63
17 vasculature development GO:0001944 9.63 CTNNB1 PIK3CA
18 cellular response to UV GO:0034644 9.63 TP53 TP63 TP73
19 epithelial tube branching involved in lung morphogenesis GO:0060441 9.61 CTNNB1 KRAS
20 protein tetramerization GO:0051262 9.61 TP53 TP63 TP73
21 regulation of synaptic transmission, GABAergic GO:0032228 9.58 KRAS PTEN
22 response to gamma radiation GO:0010332 9.58 TP53 TP63 TP73
23 chromatin-mediated maintenance of transcription GO:0048096 9.56 ARID1A CTNNB1
24 negative regulation of cardiac muscle cell proliferation GO:0060044 9.55 PTEN TP73
25 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.54 TP53 TP63 TP73
26 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.43 TP53 TP63 TP73
27 response to X-ray GO:0010165 9.33 TP53 TP63 TP73
28 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.13 TP53 TP63 TP73
29 mitotic G1 DNA damage checkpoint GO:0031571 8.8 TP53 TP63 TP73
30 regulation of transcription, DNA-templated GO:0006355 10.17 ARID1A CTNNB1 PPP2R1A SATB2 TP53 TP63
31 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.04 CTNNB1 SATB2 TP53 TP63 TP73

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.67 CTNNB1 PTEN TP53 TP73
2 p53 binding GO:0002039 9.5 TP53 TP63 TP73
3 transcription regulatory region DNA binding GO:0044212 9.46 CTNNB1 TP53 TP63 TP73
4 disordered domain specific binding GO:0097718 9.43 CTNNB1 TP53
5 MDM2/MDM4 family protein binding GO:0097371 9.26 TP63 TP73
6 damaged DNA binding GO:0003684 9.13 TP53 TP63 TP73
7 chromatin binding GO:0003682 9.02 CTNNB1 SATB2 TP53 TP63 TP73
8 protein binding GO:0005515 10.14 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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