MFT1
MCID: TRC095
MIFTS: 32

Trichoepithelioma, Multiple Familial, 1 (MFT1)

Categories: Cancer diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

MalaCards integrated aliases for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 57 13
Epithelioma Adenoides Cysticum of Brooke 57 73 6
Brooke-Fordyce Trichoepitheliomas 57 73
Mft1 57 73
Eac 57 73
Epithelioma, Hereditary Multiple Benign Cystic 57
Epithelioma Adenoides Cysticum of Brooke; Eac 57
Hereditary Multiple Benign Cystic Epithelioma 73
Multiple Familial Trichoepithelioma 1 73
Familial Multiple Trichoepitheliomata 71

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early adulthood
allelic disorder to familial cylindromatosis and brooke-spielger syndrome (bss, )


HPO:

31
trichoepithelioma, multiple familial, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM® 57 601606
MedGen 41 C1275122
UMLS 71 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

OMIM® : 57 Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. (601606) (Updated 05-Mar-2021)

MalaCards based summary : Trichoepithelioma, Multiple Familial, 1, also known as epithelioma adenoides cysticum of brooke, is related to esophageal cancer and barrett esophagus. An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin, and related phenotype is basal cell carcinoma.

UniProtKB/Swiss-Prot : 73 Multiple familial trichoepithelioma 1: Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma.

Related Diseases for Trichoepithelioma, Multiple Familial, 1

Diseases in the Trichoepithelioma, Multiple Familial, 1 family:

Trichoepithelioma, Multiple Familial, 2

Diseases related to Trichoepithelioma, Multiple Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 esophageal cancer 11.2
2 barrett esophagus 10.9
3 cylindromatosis, familial 10.9
4 brooke-spiegler syndrome 10.9
5 trichoepithelioma, multiple familial, 2 10.9
6 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.4
7 tuberous sclerosis 10.4
8 spiradenoma 10.4
9 neurofibromatosis 10.4
10 premenstrual tension 10.1
11 cervical cancer 10.0
12 leukemia, acute lymphoblastic 10.0
13 viral hepatitis 10.0
14 acute kidney failure 10.0
15 kidney disease 10.0
16 arthritis 10.0
17 breast cancer 9.8
18 type 2 diabetes mellitus 9.8
19 fibrosis of extraocular muscles, congenital, 1 9.8
20 leukemia, chronic lymphocytic 9.8
21 rheumatoid arthritis 9.8
22 schistosoma mansoni infection, susceptibility/ 9.8
23 membranous nephropathy 9.8
24 leptin deficiency or dysfunction 9.8
25 urinary tract infection 9.8
26 asbestosis 9.8
27 filariasis 9.8
28 cholesteatoma of middle ear 9.8
29 allergic conjunctivitis 9.8
30 schistosomiasis 9.8
31 generalized anxiety disorder 9.8
32 iron metabolism disease 9.8
33 blepharoconjunctivitis 9.8
34 membranoproliferative glomerulonephritis 9.8
35 glomerulonephritis 9.8
36 adenocarcinoma 9.8
37 lipid metabolism disorder 9.8
38 breast adenocarcinoma 9.8
39 mucoepidermoid carcinoma 9.8
40 thyroid gland disease 9.8
41 panic disorder 9.8
42 esophageal disease 9.8
43 bronchitis 9.8
44 conjunctivitis 9.8
45 b-cell lymphoma 9.8
46 hypoglycemia 9.8
47 asbestos intoxication 9.8

Graphical network of the top 20 diseases related to Trichoepithelioma, Multiple Familial, 1:



Diseases related to Trichoepithelioma, Multiple Familial, 1

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 1

Human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 31 occasional (7.5%) HP:0002671

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
trichoepitheliomas, multiple (usually occur in thenasolabial folds, the nose, and upper lip)

Neoplasia:
trichoepitheliomas may rarely show malignant transformation to basal cell carcinoma

Skin Nails Hair Skin Histology:
dermal aggregates of basaloid cells
tumors show hair follicle differentiation

Clinical features from OMIM®:

601606 (Updated 05-Mar-2021)

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

Search Clinical Trials , NIH Clinical Center for Trichoepithelioma, Multiple Familial, 1

Genetic Tests for Trichoepithelioma, Multiple Familial, 1

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

MalaCards organs/tissues related to Trichoepithelioma, Multiple Familial, 1:

40
Skin

Publications for Trichoepithelioma, Multiple Familial, 1

Articles related to Trichoepithelioma, Multiple Familial, 1:

(show all 22)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 6 57
16922728 2006
2
Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. 6 57
16307661 2005
3
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 57 6
15854031 2005
4
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 57 6
14632188 2003
5
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 57
19462465 2009
6
CYLD mutations in familial skin appendage tumours. 57
18234730 2008
7
Genetics of skin appendage neoplasms and related syndromes. 57
16272260 2005
8
Hereditary multiple benign cystic epithelioma (multiple trichoepithelioma) with onset at early age. 57
9219004 1997
9
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. 57
7493027 1995
10
Familial cutaneous cylindromas: investigations in five generations of a family. 57
7622645 1995
11
Occurrence of basal cell carcinoma among multiple trichoepitheliomas. 57
8436650 1993
12
Epithelioma adenoides cysticum: genetic update. 57
974013 1976
13
Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity. 57
5653864 1968
14
Glucose-6-phosphate dehydrogenase mosaicism as a tracer in the study of hereditary multiple trichoepithelioma. 57
17948511 1966
15
Multiple trichoepithelioma in a mother and two children. 57
5958278 1966
16
Hereditary multiple benign cystic epithelioma. 57
18888079 1948
17
Brooke-Spiegler syndrome. 61
11730050 2001
18
Familial multiple eccrine spiradenomas with cylindromatous features associated with epithelioma adenoides cysticum of Brooke. 61
2166650 1990
19
Solitary trichoepithelioma and epithelioma adenoides cysticum of Brooke involving the external auditory meatus. 61
7264459 1981
20
Proceedings: Dermal eccrine cylindroma, epithelioma adenoides cysticum of Brooke, and ecrine spiradenoma. 61
4375438 1974
21
Case of Epithelioma Adenoides Cysticum of Brooke, with Rodent Ulceration. 61
19980905 1920
22
Epithelioma Adenoides Cysticum of Brooke in Mother, Daughter, and two Sons, associated with so-called "Multiple Endothelioma of the Scalp"; its Relationship to Multiple Rodent Ulcer. 61
19977743 1914

Variations for Trichoepithelioma, Multiple Familial, 1

ClinVar genetic disease variations for Trichoepithelioma, Multiple Familial, 1:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) SNV Pathogenic 5258 rs121908389 16:50825600-50825600 16:50791689-50791689
2 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
3 CYLD NM_015247.2(CYLD):c.1826+2T>G SNV Pathogenic 5257 rs1597058708 16:50816379-50816379 16:50782468-50782468
4 CYLD NM_001042355.2(CYLD):c.2229_2230AG[1] (p.Glu744fs) Microsatellite Pathogenic 5256 rs1597085967 16:50825598-50825599 16:50791687-50791688
5 CYLD NM_015247.2(CYLD):c.1950-5_1950-2del Deletion Uncertain significance 267242 rs886040881 16:50820760-50820763 16:50786849-50786852
6 CYLD NM_015247.2(CYLD):c.*5384A>G SNV Uncertain significance 319574 rs886052072 16:50835803-50835803 16:50801892-50801892
7 CYLD NM_015247.2(CYLD):c.*403T>C SNV Uncertain significance 319512 rs886052052 16:50830822-50830822 16:50796911-50796911
8 CYLD NM_015247.2(CYLD):c.*3000C>G SNV Uncertain significance 319546 rs886052063 16:50833419-50833419 16:50799508-50799508
9 CYLD NM_015247.2(CYLD):c.*1983T>C SNV Uncertain significance 319531 rs867027657 16:50832402-50832402 16:50798491-50798491
10 CYLD NM_015247.2(CYLD):c.*1727T>C SNV Uncertain significance 319527 rs886052056 16:50832146-50832146 16:50798235-50798235
11 CYLD NM_015247.2(CYLD):c.*3722T>G SNV Uncertain significance 319556 rs886052067 16:50834141-50834141 16:50800230-50800230
12 CYLD NM_015247.2(CYLD):c.*3148T>C SNV Uncertain significance 319549 rs555603514 16:50833567-50833567 16:50799656-50799656
13 CYLD NM_015247.2(CYLD):c.*1810A>T SNV Uncertain significance 319529 rs886052058 16:50832229-50832229 16:50798318-50798318
14 CYLD NM_015247.2(CYLD):c.-23A>C SNV Uncertain significance 319496 rs771486432 16:50783587-50783587 16:50749676-50749676
15 CYLD NM_015247.2(CYLD):c.*4702C>T SNV Uncertain significance 319567 rs886052070 16:50835121-50835121 16:50801210-50801210
16 CYLD NM_015247.2(CYLD):c.*2438G>A SNV Uncertain significance 319539 rs886052061 16:50832857-50832857 16:50798946-50798946
17 CYLD NM_015247.2(CYLD):c.*1102G>A SNV Uncertain significance 319519 rs141088048 16:50831521-50831521 16:50797610-50797610
18 CYLD-AS1 NM_015247.2(CYLD):c.-366G>C SNV Uncertain significance 319494 rs886052050 16:50776010-50776010 16:50742099-50742099
19 CYLD NM_015247.2(CYLD):c.*4485G>C SNV Uncertain significance 319562 rs886052068 16:50834904-50834904 16:50800993-50800993
20 CYLD NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) SNV Uncertain significance 319506 rs200905032 16:50825505-50825505 16:50791594-50791594
21 CYLD NM_015247.2(CYLD):c.*3305A>G SNV Uncertain significance 319551 rs886052065 16:50833724-50833724 16:50799813-50799813
22 CYLD NM_015247.2(CYLD):c.*2305A>T SNV Uncertain significance 319536 rs559634329 16:50832724-50832724 16:50798813-50798813
23 CYLD NM_015247.2(CYLD):c.*3731C>T SNV Uncertain significance 319557 rs551109634 16:50834150-50834150 16:50800239-50800239
24 CYLD NM_015247.2(CYLD):c.*3229C>T SNV Uncertain significance 319550 rs752862278 16:50833648-50833648 16:50799737-50799737
25 CYLD NM_015247.2(CYLD):c.-161A>G SNV Uncertain significance 319495 rs886052051 16:50778740-50778740 16:50744829-50744829
26 CYLD NM_015247.2(CYLD):c.*4885A>T SNV Uncertain significance 319569 rs184571054 16:50835304-50835304 16:50801393-50801393
27 CYLD NM_015247.2(CYLD):c.*2856T>C SNV Uncertain significance 319544 rs778856255 16:50833275-50833275 16:50799364-50799364
28 CYLD NM_015247.2(CYLD):c.1503C>T (p.Leu501=) SNV Uncertain significance 319504 rs752471076 16:50813940-50813940 16:50780029-50780029
29 CYLD NM_015247.2(CYLD):c.*2556A>G SNV Uncertain significance 319540 rs747682326 16:50832975-50832975 16:50799064-50799064
30 CYLD NM_015247.2(CYLD):c.543C>T (p.Tyr181=) SNV Uncertain significance 319499 rs752294416 16:50785553-50785553 16:50751642-50751642
31 CYLD NM_015247.2(CYLD):c.*4388C>T SNV Uncertain significance 319560 rs781004605 16:50834807-50834807 16:50800896-50800896
32 CYLD NM_015247.2(CYLD):c.*3384G>A SNV Uncertain significance 319552 rs886052066 16:50833803-50833803 16:50799892-50799892
33 CYLD NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) SNV Uncertain significance 319501 rs200759332 16:50813603-50813603 16:50779692-50779692
34 CYLD NM_015247.2(CYLD):c.*1308A>G SNV Uncertain significance 319521 rs886052054 16:50831727-50831727 16:50797816-50797816
35 CYLD NM_015247.2(CYLD):c.*1245T>C SNV Uncertain significance 319520 rs192470603 16:50831664-50831664 16:50797753-50797753
36 CYLD NM_015247.2(CYLD):c.*4470C>A SNV Uncertain significance 319561 rs755710819 16:50834889-50834889 16:50800978-50800978
37 CYLD NM_015247.2(CYLD):c.*1746C>T SNV Uncertain significance 319528 rs886052057 16:50832165-50832165 16:50798254-50798254
38 CYLD NM_015247.2(CYLD):c.*468A>C SNV Uncertain significance 319513 rs886052053 16:50830887-50830887 16:50796976-50796976
39 CYLD NM_015247.2(CYLD):c.*4841G>A SNV Uncertain significance 319568 rs886052071 16:50835260-50835260 16:50801349-50801349
40 CYLD NM_015247.2(CYLD):c.*1667G>T SNV Uncertain significance 319526 rs750022206 16:50832086-50832086 16:50798175-50798175
41 CYLD NM_015247.2(CYLD):c.*2975C>T SNV Uncertain significance 319545 rs886052062 16:50833394-50833394 16:50799483-50799483
42 CYLD NM_015247.2(CYLD):c.*4691A>G SNV Uncertain significance 319566 rs886052069 16:50835110-50835110 16:50801199-50801199
43 CYLD NM_015247.2(CYLD):c.*4494G>A SNV Uncertain significance 319563 rs546313281 16:50834913-50834913 16:50801002-50801002
44 CYLD NM_015247.2(CYLD):c.*4947G>A SNV Uncertain significance 319571 rs567438576 16:50835366-50835366 16:50801455-50801455
45 CYLD NM_001042355.2(CYLD):c.*206A>C SNV Uncertain significance 884717 16:50830625-50830625 16:50796714-50796714
46 CYLD NM_001042355.2(CYLD):c.*1033T>A SNV Uncertain significance 884773 16:50831452-50831452 16:50797541-50797541
47 CYLD NM_001042355.2(CYLD):c.*1034C>A SNV Uncertain significance 884774 16:50831453-50831453 16:50797542-50797542
48 CYLD NM_001042355.2(CYLD):c.*1651G>A SNV Uncertain significance 884839 16:50832070-50832070 16:50798159-50798159
49 CYLD NM_001042355.2(CYLD):c.*2848A>G SNV Uncertain significance 884989 16:50833267-50833267 16:50799356-50799356
50 CYLD NM_001042355.2(CYLD):c.*3462A>G SNV Uncertain significance 885050 16:50833881-50833881 16:50799970-50799970

UniProtKB/Swiss-Prot genetic disease variations for Trichoepithelioma, Multiple Familial, 1:

73
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

Cosmic variations for Trichoepithelioma, Multiple Familial, 1:

9 (show top 50) (show all 3682)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM144653327 TP53 skin,face,carcinoma,basal cell carcinoma c.*131C>T p.? 17:7670685-7670685 8
2 COSM143371865 TP53 skin,face,carcinoma,basal cell carcinoma c.469C>T p.R157* 17:7674945-7674945 8
3 COSM93183824 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 8
4 COSM142570304 TP53 skin,face,carcinoma,basal cell carcinoma c.715C>T p.P239S 17:7673788-7673788 8
5 COSM142742951 TP53 skin,face,carcinoma,basal cell carcinoma c.315G>A p.Q105= 17:7675180-7675180 8
6 COSM105639284 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 8
7 COSM112253879 TP53 skin,face,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 8
8 COSM121878773 TP53 skin,face,carcinoma,basal cell carcinoma c.241C>T p.R81* 17:7674894-7674894 8
9 COSM111776406 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 8
10 COSM142837551 TP53 skin,face,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 8
11 COSM122742188 TP53 skin,face,carcinoma,basal cell carcinoma c.58C>T p.P20S 17:7675158-7675158 8
12 COSM122735020 TP53 skin,face,carcinoma,basal cell carcinoma c.190C>T p.R64* 17:7674945-7674945 8
13 COSM144028845 TP53 skin,face,carcinoma,basal cell carcinoma c.679T>A p.C227S 17:7674251-7674251 8
14 COSM144015364 TP53 skin,face,carcinoma,basal cell carcinoma c.604C>T p.R202* 17:7674894-7674894 8
15 COSM121877621 TP53 skin,face,carcinoma,basal cell carcinoma c.190C>T p.R64* 17:7674945-7674945 8
16 COSM93201188 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 8
17 COSM144014436 TP53 skin,face,carcinoma,basal cell carcinoma c.553C>T p.R185* 17:7674945-7674945 8
18 COSM112253194 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 8
19 COSM122272676 TP53 skin,face,carcinoma,basal cell carcinoma c.190C>T p.R64* 17:7674945-7674945 8
20 COSM144013959 TP53 skin,face,carcinoma,basal cell carcinoma c.502C>T p.H168Y 17:7675077-7675077 8
21 COSM111765498 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 8
22 COSM142838765 TP53 skin,face,carcinoma,basal cell carcinoma c.*131C>T p.? 17:7670685-7670685 8
23 COSM93191278 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 8
24 COSM144691571 TP53 skin,face,carcinoma,basal cell carcinoma c.302C>T p.T101I 17:7675193-7675193 8
25 COSM144013187 TP53 skin,face,carcinoma,basal cell carcinoma c.800C>G p.P267R 17:7673787-7673787 8
26 COSM143156943 TP53 skin,face,carcinoma,basal cell carcinoma c.203C>T p.S68F 17:7674283-7674283 8
27 COSM144324830 TP53 skin,face,carcinoma,basal cell carcinoma c.595T>A p.C199S 17:7674251-7674251 8
28 COSM143380220 TP53 skin,face,carcinoma,basal cell carcinoma c.337C>T p.P113S 17:7675158-7675158 8
29 COSM122760549 TP53 skin,face,carcinoma,basal cell carcinoma c.134C>T p.P45L 17:7675082-7675082 8
30 COSM122285801 TP53 skin,face,carcinoma,basal cell carcinoma c.434G>T p.C145F 17:7673790-7673790 8
31 COSM143165337 TP53 skin,face,carcinoma,basal cell carcinoma c.355C>T p.P119S 17:7673788-7673788 8
32 COSM93184755 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
33 COSM105625281 TP53 skin,face,carcinoma,basal cell carcinoma c.782+402G>A p.? 17:7673779-7673779 8
34 COSM143967057 TP53 skin,face,carcinoma,basal cell carcinoma c.53C>T p.P18L 17:7675082-7675082 8
35 COSM143372968 TP53 skin,face,carcinoma,basal cell carcinoma c.520C>T p.R174* 17:7674894-7674894 8
36 COSM106053434 TP53 skin,face,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 8
37 COSM112254885 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 8
38 COSM144311386 TP53 skin,face,carcinoma,basal cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
39 COSM111759584 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
40 COSM106067126 TP53 skin,face,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 8
41 COSM142568741 TP53 skin,face,carcinoma,basal cell carcinoma c.337C>T p.P113S 17:7675158-7675158 8
42 COSM144324805 TP53 skin,face,carcinoma,basal cell carcinoma c.876+1G>A p.? 17:7673534-7673534 8
43 COSM106054364 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
44 COSM105628155 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 8
45 COSM143959336 TP53 skin,face,carcinoma,basal cell carcinoma c.235T>A p.C79S 17:7674251-7674251 8
46 COSM144087214 TP53 skin,face,carcinoma,basal cell carcinoma c.203C>T p.S68F 17:7674283-7674283 8
47 COSM144659660 TP53 skin,face,carcinoma,basal cell carcinoma c.475G>T p.E159* 17:7674939-7674939 8
48 COSM112260517 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 8
49 COSM93184004 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 8
50 COSM144312222 TP53 skin,face,carcinoma,basal cell carcinoma c.722G>A p.R241K 17:7673781-7673781 8

Expression for Trichoepithelioma, Multiple Familial, 1

Search GEO for disease gene expression data for Trichoepithelioma, Multiple Familial, 1.

Pathways for Trichoepithelioma, Multiple Familial, 1

GO Terms for Trichoepithelioma, Multiple Familial, 1

Sources for Trichoepithelioma, Multiple Familial, 1

3 CDC
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