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 72 6
Brooke-Fordyce Trichoepitheliomas 57 72
Mft1 57 72
Eac 57 72
Epithelioma, Hereditary Multiple Benign Cystic 57
Epithelioma Adenoides Cysticum of Brooke; Eac 57
Hereditary Multiple Benign Cystic Epithelioma 72
Multiple Familial Trichoepithelioma 1 72
Familial Multiple Trichoepitheliomata 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-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 70 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-Apr-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 : 72 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 50)
# 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 breast cancer 9.8
17 type 2 diabetes mellitus 9.8
18 fibrosis of extraocular muscles, congenital, 1 9.8
19 leukemia, chronic lymphocytic 9.8
20 rheumatoid arthritis 9.8
21 schistosoma mansoni infection, susceptibility/ 9.8
22 leukemia, chronic myeloid 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 leukemia 9.8
31 schistosomiasis 9.8
32 generalized anxiety disorder 9.8
33 iron metabolism disease 9.8
34 blepharoconjunctivitis 9.8
35 membranoproliferative glomerulonephritis 9.8
36 glomerulonephritis 9.8
37 adenocarcinoma 9.8
38 lipid metabolism disorder 9.8
39 breast adenocarcinoma 9.8
40 mucoepidermoid carcinoma 9.8
41 thyroid gland disease 9.8
42 panic disorder 9.8
43 esophageal disease 9.8
44 bronchitis 9.8
45 conjunctivitis 9.8
46 b-cell lymphoma 9.8
47 arthritis 9.8
48 myeloid leukemia 9.8
49 hypoglycemia 9.8
50 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-Apr-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-Apr-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. 6 57
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 Position
1 CYLD NM_015247.2(CYLD):c.1826+2T>G SNV Pathogenic 5257 rs1597058708 GRCh37: 16:50816379-50816379
GRCh38: 16:50782468-50782468
2 CYLD NM_001042355.2(CYLD):c.2229_2230AG[1] (p.Glu744fs) Microsatellite Pathogenic 5256 rs1597085967 GRCh37: 16:50825598-50825599
GRCh38: 16:50791687-50791688
3 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) SNV Pathogenic 5259 rs121908390 GRCh37: 16:50830354-50830354
GRCh38: 16:50796443-50796443
4 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) SNV Pathogenic 5258 rs121908389 GRCh37: 16:50825600-50825600
GRCh38: 16:50791689-50791689
5 CYLD NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) SNV Uncertain significance 319506 rs200905032 GRCh37: 16:50825505-50825505
GRCh38: 16:50791594-50791594
6 CYLD NM_015247.2(CYLD):c.*3305A>G SNV Uncertain significance 319551 rs886052065 GRCh37: 16:50833724-50833724
GRCh38: 16:50799813-50799813
7 CYLD NM_015247.2(CYLD):c.*2305A>T SNV Uncertain significance 319536 rs559634329 GRCh37: 16:50832724-50832724
GRCh38: 16:50798813-50798813
8 CYLD NM_015247.2(CYLD):c.*3731C>T SNV Uncertain significance 319557 rs551109634 GRCh37: 16:50834150-50834150
GRCh38: 16:50800239-50800239
9 CYLD NM_015247.2(CYLD):c.*3229C>T SNV Uncertain significance 319550 rs752862278 GRCh37: 16:50833648-50833648
GRCh38: 16:50799737-50799737
10 CYLD NM_015247.2(CYLD):c.-161A>G SNV Uncertain significance 319495 rs886052051 GRCh37: 16:50778740-50778740
GRCh38: 16:50744829-50744829
11 CYLD NM_015247.2(CYLD):c.*2856T>C SNV Uncertain significance 319544 rs778856255 GRCh37: 16:50833275-50833275
GRCh38: 16:50799364-50799364
12 CYLD NM_015247.2(CYLD):c.-23A>C SNV Uncertain significance 319496 rs771486432 GRCh37: 16:50783587-50783587
GRCh38: 16:50749676-50749676
13 CYLD NM_015247.2(CYLD):c.*4702C>T SNV Uncertain significance 319567 rs886052070 GRCh37: 16:50835121-50835121
GRCh38: 16:50801210-50801210
14 CYLD NM_015247.2(CYLD):c.*2438G>A SNV Uncertain significance 319539 rs886052061 GRCh37: 16:50832857-50832857
GRCh38: 16:50798946-50798946
15 CYLD NM_015247.2(CYLD):c.*1102G>A SNV Uncertain significance 319519 rs141088048 GRCh37: 16:50831521-50831521
GRCh38: 16:50797610-50797610
16 CYLD-AS1 , CYLD NM_015247.2(CYLD):c.-366G>C SNV Uncertain significance 319494 rs886052050 GRCh37: 16:50776010-50776010
GRCh38: 16:50742099-50742099
17 CYLD NM_015247.2(CYLD):c.*4485G>C SNV Uncertain significance 319562 rs886052068 GRCh37: 16:50834904-50834904
GRCh38: 16:50800993-50800993
18 CYLD NM_015247.2(CYLD):c.1950-5_1950-2del Deletion Uncertain significance 267242 rs886040881 GRCh37: 16:50820760-50820763
GRCh38: 16:50786849-50786852
19 CYLD NM_015247.2(CYLD):c.*3000C>G SNV Uncertain significance 319546 rs886052063 GRCh37: 16:50833419-50833419
GRCh38: 16:50799508-50799508
20 CYLD NM_015247.2(CYLD):c.*1983T>C SNV Uncertain significance 319531 rs867027657 GRCh37: 16:50832402-50832402
GRCh38: 16:50798491-50798491
21 CYLD NM_015247.2(CYLD):c.*1727T>C SNV Uncertain significance 319527 rs886052056 GRCh37: 16:50832146-50832146
GRCh38: 16:50798235-50798235
22 CYLD NM_015247.2(CYLD):c.*3722T>G SNV Uncertain significance 319556 rs886052067 GRCh37: 16:50834141-50834141
GRCh38: 16:50800230-50800230
23 CYLD NM_015247.2(CYLD):c.*5384A>G SNV Uncertain significance 319574 rs886052072 GRCh37: 16:50835803-50835803
GRCh38: 16:50801892-50801892
24 CYLD NM_015247.2(CYLD):c.*403T>C SNV Uncertain significance 319512 rs886052052 GRCh37: 16:50830822-50830822
GRCh38: 16:50796911-50796911
25 CYLD NM_015247.2(CYLD):c.*3148T>C SNV Uncertain significance 319549 rs555603514 GRCh37: 16:50833567-50833567
GRCh38: 16:50799656-50799656
26 CYLD NM_015247.2(CYLD):c.*4885A>T SNV Uncertain significance 319569 rs184571054 GRCh37: 16:50835304-50835304
GRCh38: 16:50801393-50801393
27 CYLD NM_015247.2(CYLD):c.1503C>T (p.Leu501=) SNV Uncertain significance 319504 rs752471076 GRCh37: 16:50813940-50813940
GRCh38: 16:50780029-50780029
28 CYLD NM_015247.2(CYLD):c.*2556A>G SNV Uncertain significance 319540 rs747682326 GRCh37: 16:50832975-50832975
GRCh38: 16:50799064-50799064
29 CYLD NM_015247.2(CYLD):c.543C>T (p.Tyr181=) SNV Uncertain significance 319499 rs752294416 GRCh37: 16:50785553-50785553
GRCh38: 16:50751642-50751642
30 CYLD NM_015247.2(CYLD):c.*4388C>T SNV Uncertain significance 319560 rs781004605 GRCh37: 16:50834807-50834807
GRCh38: 16:50800896-50800896
31 CYLD NM_015247.2(CYLD):c.*3384G>A SNV Uncertain significance 319552 rs886052066 GRCh37: 16:50833803-50833803
GRCh38: 16:50799892-50799892
32 CYLD NM_015247.2(CYLD):c.*1810A>T SNV Uncertain significance 319529 rs886052058 GRCh37: 16:50832229-50832229
GRCh38: 16:50798318-50798318
33 CYLD NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) SNV Uncertain significance 319501 rs200759332 GRCh37: 16:50813603-50813603
GRCh38: 16:50779692-50779692
34 CYLD NM_015247.2(CYLD):c.*1308A>G SNV Uncertain significance 319521 rs886052054 GRCh37: 16:50831727-50831727
GRCh38: 16:50797816-50797816
35 CYLD NM_015247.2(CYLD):c.*4470C>A SNV Uncertain significance 319561 rs755710819 GRCh37: 16:50834889-50834889
GRCh38: 16:50800978-50800978
36 CYLD NM_015247.2(CYLD):c.*1746C>T SNV Uncertain significance 319528 rs886052057 GRCh37: 16:50832165-50832165
GRCh38: 16:50798254-50798254
37 CYLD NM_015247.2(CYLD):c.*468A>C SNV Uncertain significance 319513 rs886052053 GRCh37: 16:50830887-50830887
GRCh38: 16:50796976-50796976
38 CYLD NM_015247.2(CYLD):c.*1245T>C SNV Uncertain significance 319520 rs192470603 GRCh37: 16:50831664-50831664
GRCh38: 16:50797753-50797753
39 CYLD NM_015247.2(CYLD):c.*4494G>A SNV Uncertain significance 319563 rs546313281 GRCh37: 16:50834913-50834913
GRCh38: 16:50801002-50801002
40 CYLD NM_015247.2(CYLD):c.*4841G>A SNV Uncertain significance 319568 rs886052071 GRCh37: 16:50835260-50835260
GRCh38: 16:50801349-50801349
41 CYLD NM_015247.2(CYLD):c.*1667G>T SNV Uncertain significance 319526 rs750022206 GRCh37: 16:50832086-50832086
GRCh38: 16:50798175-50798175
42 CYLD NM_015247.2(CYLD):c.*2975C>T SNV Uncertain significance 319545 rs886052062 GRCh37: 16:50833394-50833394
GRCh38: 16:50799483-50799483
43 CYLD NM_015247.2(CYLD):c.*4691A>G SNV Uncertain significance 319566 rs886052069 GRCh37: 16:50835110-50835110
GRCh38: 16:50801199-50801199
44 CYLD NM_001042355.2(CYLD):c.*206A>C SNV Uncertain significance 884717 GRCh37: 16:50830625-50830625
GRCh38: 16:50796714-50796714
45 CYLD NM_001042355.2(CYLD):c.*1033T>A SNV Uncertain significance 884773 GRCh37: 16:50831452-50831452
GRCh38: 16:50797541-50797541
46 CYLD NM_001042355.2(CYLD):c.*1034C>A SNV Uncertain significance 884774 GRCh37: 16:50831453-50831453
GRCh38: 16:50797542-50797542
47 CYLD NM_001042355.2(CYLD):c.*1651G>A SNV Uncertain significance 884839 GRCh37: 16:50832070-50832070
GRCh38: 16:50798159-50798159
48 CYLD NM_001042355.2(CYLD):c.*2848A>G SNV Uncertain significance 884989 GRCh37: 16:50833267-50833267
GRCh38: 16:50799356-50799356
49 CYLD NM_001042355.2(CYLD):c.*3462A>G SNV Uncertain significance 885050 GRCh37: 16:50833881-50833881
GRCh38: 16:50799970-50799970
50 CYLD NM_015247.2(CYLD):c.665C>A (p.Thr222Lys) SNV Uncertain significance 133957 rs587778225 GRCh37: 16:50785675-50785675
GRCh38: 16:50751764-50751764

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

72
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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