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MRTES
MCID: MRT001
MIFTS: 65

Muir-Torre Syndrome (MRTES)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Muir-Torre Syndrome

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MalaCards integrated aliases for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 57 11 19 58 73 12 53 43 14 38 75
Muir-Torré Syndrome 28 5
Keratoacanthoma 19 71
Mrtes 57 73
Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas 57
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 19
Multiple Keratoacanthoma, Muir-Torre Type 58
Torre-Muir Syndrome 71
Mts 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Adult 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0050465
OMIM® 57 158320
MeSH 43 D055653
NCIt 49 C84905
SNOMED-CT 68 403824007
MESH via Orphanet 44 D055653
ICD10 via Orphanet 32 L72.8
UMLS via Orphanet 72 C1321489
Orphanet 58 ORPHA587
MedGen 40 C1321489
UMLS 71 C0022572 C1321489
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Summaries for Muir-Torre Syndrome

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Orphanet: 58 A form of hereditary nonpolyposis colon cancer characterized by the development of cutaneous sebaceous neoplasia and at least one visceral malignancy, most frequently gastrointestinal carcinoma. The malignancies are usually multiple, occur at an early age, but tend to be of low-grade and have a relatively low incidence of metastases. Sebaceous tumors are usually multiple, with sebaceous adenomas being the commonest. Multiple keratoacanthomas, usually located on the face or the trunk, have been reported as a feature. Cutaneous tumors may precede or follow the first presentation of internal malignancy, which usually involves the gastrointestinal tract, the breast or the genitourinary tract.

MalaCards based summary: Muir-Torre Syndrome, also known as muir-torré syndrome, is related to keratoacanthoma and sebaceous adenocarcinoma, and has symptoms including pruritus and exanthema. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are Disease and Homology Directed Repair. The drugs Lidocaine and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and breast, and related phenotypes are adenoma sebaceum and colon cancer

GARD: 19 Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A genetic change in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.

Disease Ontology: 11 A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has material basis in mutations in DNA mismatch repair genes.

UniProtKB/Swiss-Prot: 73 Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia: 75 Muir-Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome: 663 that is thought to be... more...

More information from OMIM: 158320
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Related Diseases for Muir-Torre Syndrome

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Diseases related to Muir-Torre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 612)
# Related Disease Score Top Affiliating Genes
1 keratoacanthoma 31.6 TP53 MSH2 MLH1
2 sebaceous adenocarcinoma 31.4 TP53 PMS2 PMS1 PLIN2 MSH6 MSH2
3 lynch syndrome 1 31.3 PMS2 PMS1 MSH6 MSH3 MSH2 MLH1
4 sebaceous adenoma 31.1 PMS2 PMS1 PLIN2 MUTYH MSH6 MSH2
5 mismatch repair cancer syndrome 1 31.1 PMS2 PMS1 MSH6 MSH2 MLH1
6 myh-associated polyposis 31.0 MUTYH MSH2
7 eyelid carcinoma 30.9 ZNF750 KRT7
8 skin benign neoplasm 30.9 TP53 MSH6 MSH2 MLH1 KRT7
9 adenoma 30.8 TP53 PMS2 MUTYH MSH6 MSH2 MLH1
10 transitional cell carcinoma 30.7 TP53 MSH2 MLH1 KRT7 FHIT
11 lynch syndrome 2 30.7 MLH1 BRCA2 BRCA1
12 sebaceous gland neoplasm 30.6 TP53 PMS2 PMS1 PLIN2 MUTYH MSH6
13 papillary transitional carcinoma 30.6 TP53 KRT7
14 skin carcinoma 30.5 TP53 MSH2 KRT7 CDKN2A
15 familial colorectal cancer 30.5 TP53 MUTYH MSH2 MLH1
16 basal cell carcinoma 30.5 TP53 PTGER4 MSH2 MLH1 KRT7 CDKN2A
17 meibomian cyst 30.5 PLIN2 KRT7
18 colorectal adenocarcinoma 30.5 TP53 PMS2 MSH6 MSH2 MLH1 KRT7
19 skin squamous cell carcinoma 30.4 TP53 PMS2 MSH6 MSH2 MLH1 CDKN2A
20 appendix adenocarcinoma 30.4 TP53 MSH6 KRT7
21 rectum cancer 30.4 TP53 MUTYH MSH6 MSH2 MLH1
22 ureter, cancer of 30.3 MSH6 MSH2 MLH1 KRT7
23 kidney cancer 30.3 TP53 PLIN2 FHIT EPCAM CDKN2A
24 intrahepatic cholangiocarcinoma 30.3 TP53 KRT7 EPCAM
25 rectum adenocarcinoma 30.2 TP53 PMS2 MSH6 MSH2 MLH1 KRT7
26 adenocarcinoma 30.2 TP53 MSH6 MSH2 MLH1 KRT7 EPCAM
27 ascending colon cancer 30.2 PMS2 MSH6 MSH2 MLH1 KRT7
28 keratosis, seborrheic 30.2 TP53 KRT7 CDKN2A
29 merkel cell carcinoma 30.1 KRT7 FHIT EPCAM
30 jejunal adenocarcinoma 30.1 PMS2 MUTYH MSH6 MSH2 MLH1 KRT7
31 ampulla of vater cancer 30.1 TP53 MLH1 KRT7 CDKN2A
32 endocervical adenocarcinoma 30.1 TP53 MSH6 KRT7 CDKN2A
33 inherited cancer-predisposing syndrome 30.1 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
34 bap1 tumor predisposition syndrome 30.1 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
35 barrett esophagus 30.0 TP53 KRT7 FHIT CDKN2A
36 colonic benign neoplasm 30.0 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
37 squamous cell carcinoma 30.0 ZNF750 TP53 KRT7 FHIT EPCAM CDKN2A
38 small intestine adenocarcinoma 30.0 TP53 PMS2 MSH6 MSH2 MLH1 KRT7
39 vaginal cancer 30.0 TP53 KRT7 CDKN2A BRCA1
40 basaloid squamous cell carcinoma 29.9 TP53 PTGER4 KRT7 CDKN2A
41 mucinous adenocarcinoma 29.9 TP53 PMS2 MSH6 MSH2 MLH1 KRT7
42 squamous cell carcinoma, head and neck 29.9 TP53 MLH1 FHIT EPCAM CDKN2A
43 familial adenomatous polyposis 29.9 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
44 villous adenoma 29.9 TP53 PMS2 MUTYH MSH6 MSH2 MLH1
45 penile benign neoplasm 29.9 TP53 CDKN2A
46 duodenum cancer 29.9 TP53 PMS2 MUTYH MSH6 MSH2 MLH1
47 lung cancer susceptibility 3 29.9 TP53 MLH1 KRT7 FHIT CDKN2A
48 glioblastoma 29.9 TP53 PMS2 MSH6 MSH2 MLH1 CDKN2A
49 adenoid squamous cell carcinoma 29.9 TP53 KRT7
50 conjunctival squamous cell carcinoma 29.8 TP53 CDKN2A

Graphical network of the top 20 diseases related to Muir-Torre Syndrome:



Diseases related to Muir-Torre Syndrome
Sources

Symptoms & Phenotypes for Muir-Torre Syndrome

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Human phenotypes related to Muir-Torre Syndrome:

58 30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0009720
2 colon cancer 58 30 Very rare (1%) Frequent (79-30%)
 HP:0003003
3 neoplasm of the stomach 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006753
4 breast carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003002
5 endometrial carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012114
6 neoplasm of the liver 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002896
7 hematological neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004377
8 malignant genitourinary tract tumor 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006758
9 renal neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009726
10 laryngeal carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012118
11 salivary gland neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100684
12 ovarian neoplasm 30 Very rare (1%) HP:0100615
13 sebaceous gland carcinoma 30 Very rare (1%) HP:0030410
14 neoplasm of the skin 58 Very frequent (99-80%)
15 colonic diverticula 30 HP:0002253
16 basal cell carcinoma 30 HP:0002671
17 benign gastrointestinal tract tumors 30 HP:0006719
18 duodenal adenocarcinoma 30 HP:0006771
19 benign genitourinary tract neoplasm 30 HP:0006778

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
basal cell carcinoma
colon cancer
laryngeal carcinoma
malignant gastrointestinal tract tumors
benign gastrointestinal tract tumors
more
Skin Nails Hair Skin:
sebaceous gland tumors
keratoacanthomas

Abdomen Gastrointestinal:
colonic diverticula (early onset)

Clinical features from OMIM®:

158320 (Updated 08-Dec-2022)

UMLS symptoms related to Muir-Torre Syndrome:


pruritus; exanthema

GenomeRNAi Phenotypes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 APRG1 BRCA1 BRCA2 CDKN2A EPCAM FHIT
2 no effect GR00402-S-2 10.2 APRG1 BRCA1 BRCA2 CDKN2A EPCAM FHIT
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.91 BRCA1 BRCA2 MLH1
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.91 BRCA1 BRCA2 MLH1 TP53
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.91 BRCA1 BRCA2 MLH1 MLH3 MSH2 MSH3
6 Decreased viability GR00221-A-1 9.81 PMS1
7 Decreased viability GR00221-A-2 9.81 BRCA1 PMS1
8 Decreased viability GR00221-A-3 9.81 BRCA1
9 Decreased viability GR00301-A 9.81 BRCA1 MLH3 MSH2 PMS1
10 Decreased viability GR00386-A-1 9.81 PMS1

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 BRCA1 BRCA2 CDKN2A EPCAM FHIT KRT7
2 neoplasm MP:0002006 10.22 BRCA1 BRCA2 CDKN2A FHIT MLH1 MSH2
3 cellular MP:0005384 10.07 BRCA1 BRCA2 CDKN2A EPCAM KRT7 MLH1
4 digestive/alimentary MP:0005381 10.02 BRCA1 BRCA2 CDKN2A EPCAM FHIT MLH1
5 immune system MP:0005387 9.93 BRCA1 BRCA2 CDKN2A EPCAM FHIT MLH1
6 hematopoietic system MP:0005397 9.73 BRCA1 BRCA2 CDKN2A EPCAM FHIT MLH1
7 integument MP:0010771 9.36 BRCA1 BRCA2 CDKN2A FHIT MLH1 MSH2
Sources

Drugs & Therapeutics for Muir-Torre Syndrome

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Drugs for Muir-Torre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anti-Arrhythmia Agents Phase 4
3 Sodium Channel Blockers Phase 4
4 Anesthetics, Local Phase 4
5 Anesthetics Phase 4
6 Diuretics, Potassium Sparing Phase 4
7
Nivolumab Approved Phase 2 946414-94-4
8
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
9 Immune Checkpoint Inhibitors Phase 2
10 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Local Anesthetic in Intralesional Corticosteroid Injections; A Randomized, Double Blind Controlled Trial Completed NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Recruiting NCT02978625 Phase 2
3 A Single Arm Phase 2 Study of Talimogene Laherparepvec in Patients With Cutaneous Squamous Cell Cancer Active, not recruiting NCT03714828 Phase 2 Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
4 A Phase II Study of L19IL2/L19TNF in Patients With Skin Cancers Amenable to Intralesional Treatment Not yet recruiting NCT05329792 Phase 2 L19IL2/L19TNF

Search NIH Clinical Center for Muir-Torre Syndrome

Cochrane evidence based reviews: muir-torre syndrome

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Genetic Tests for Muir-Torre Syndrome

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Genetic tests related to Muir-Torre Syndrome:

# Genetic test Affiliating Genes
1 Muir-Torré Syndrome 28 MLH1 MSH2
Sources

Anatomical Context for Muir-Torre Syndrome

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Organs/tissues related to Muir-Torre Syndrome:

MalaCards : Skin, Colon, Breast, Salivary Gland, Liver, Tongue, Lung
Sources

Publications for Muir-Torre Syndrome

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Articles related to Muir-Torre Syndrome:

(show top 50) (show all 2028)
# Title Authors PMID Year
1
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 62 57 5
14994245 2004
2
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. 62 57 5
8751876 1996
3
Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. 62 57 5
4063166 1985
4
"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation. 53 62 57
11231323 2001
5
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. 53 62 5
7713503 1994
6
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. 62 57
24603434 2014
7
[Muir-Torre syndrome with previously undescribed frameshift mutation in the MSH2 gene]. 62 5
23229822 2013
8
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 62 5
17250661 2007
9
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. 62 57
15662714 2005
10
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 62 57
15235030 2004
11
Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome. 62 57
12095833 2002
12
Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. 62 57
10534628 1999
13
Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. 62 57
9634524 1998
14
Muir-Torre syndrome: clinical features and molecular genetic analysis. 62 5
9217825 1997
15
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? 62 57
8931714 1996
16
The Muir-Torre syndrome: a 25-year retrospect. 62 57
7601953 1995
17
Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. 62 5
7705822 1995
18
Muir-Torre syndrome: a variant of the cancer family syndrome. 62 57
7815421 1994
19
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. 62 57
8155392 1994
20
Muir-Torre syndrome associated with a family history of hyperlipidemia. 62 57
8436639 1993
21
Muir-Torre syndrome in patients with hematologic malignancies. 62 57
1566750 1992
22
Muir-Torre syndrome associated with alpha 1-antitrypsin deficiency and cutaneous vasculitis. Report of a case with exacerbation of a cutaneous neoplasm during immunosuppressive therapy. 62 57
2050856 1991
23
Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. 62 57
2029018 1991
24
Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. 62 57
7074588 1982
25
Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis. 62 57
964982 1976
26
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 5
24362816 2014
27
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 5
23403630 2013
28
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 5
22949387 2013
29
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 5
22753075 2012
30
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 5
21404117 2011
31
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 5
21120944 2011
32
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 5
20533529 2010
33
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 5
17594722 2007
34
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 5
17510385 2007
35
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). 5
15942939 2005
36
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 5
16083711 2005
37
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 5
11726306 2001
38
Muir-Torre-like syndrome in Fhit-deficient mice. 57
10758156 2000
39
Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families. 5
8198129 1994
40
The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor. 57
2229491 1990
41
Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression. 57
3771859 1986
42
Sebaceous gland tumors and systemic disease: a clinicopathologic analysis. 57
6738344 1984
43
The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. 57
7224741 1981
44
The Torre syndrome with gastrointestinal polyposis. 57
7369749 1980
45
[Multiple kerato-acanthomas and visceral carcinomas: Torre's syndrome]. 57
610516 1977
46
[Sebaceous hyperplasias, kerato-acanthomas, epitheliomas of the face and cancer of the colon. A new entity?]. 57
992186 1976
47
Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities. 57
4545832 1974
48
Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome. 57
4815585 1974
49
Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon. 57
4758274 1973
50
Multiple sebaceous tumors. 57
5684233 1968
Sources

Variations for Muir-Torre Syndrome

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ClinVar genetic disease variations for Muir-Torre Syndrome:

5 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH2 NM_000251.3(MSH2):c.868G>T (p.Glu290Ter) SNV Pathogenic
 91235 rs587779190 GRCh37: 2:47641483-47641483
GRCh38: 2:47414344-47414344
2 MSH2 NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) SNV Pathogenic
 1758 rs63750047 GRCh37: 2:47702205-47702205
GRCh38: 2:47475066-47475066
3 MSH2 MSH2, 32-KB DEL, EX1-6 DEL Pathogenic
 1774 GRCh37: 2:47618487-47650860
GRCh38:
4 MSH2 NM_000251.3(MSH2):c.1907del (p.Ala636fs) DEL Pathogenic
 1339337 GRCh37: 2:47702311-47702311
GRCh38: 2:47475172-47475172
5 MLH1 NM_000249.4(MLH1):c.2153A>C (p.His718Pro) SNV Pathogenic
 90071 rs587778983 GRCh37: 3:37092026-37092026
GRCh38: 3:37050535-37050535
6 MLH1 NM_000249.4(MLH1):c.791-1G>C SNV Pathogenic
 90369 rs267607795 GRCh37: 3:37058996-37058996
GRCh38: 3:37017505-37017505
7 MLH1 NM_000249.4(MLH1):c.1972del (p.Leu658fs) DEL Pathogenic
 1685949 GRCh37: 3:37090083-37090083
GRCh38: 3:37048592-37048592
8 MLH1 NM_000249.4(MLH1):c.453+1G>A SNV Pathogenic
 1319487 GRCh37: 3:37048555-37048555
GRCh38: 3:37007064-37007064
9 MLH1 NM_000249.4(MLH1):c.131C>T (p.Ser44Phe) SNV Pathogenic
 17079 rs63751109 GRCh37: 3:37038124-37038124
GRCh38: 3:36996633-36996633
10 MLH1 NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) SNV Pathogenic
 29654 rs63751194 GRCh37: 3:37058999-37058999
GRCh38: 3:37017508-37017508
11 MLH1 MLH1:c.(?_-198)_207+?del DEL Pathogenic
 89580 GRCh37: 3:37034841-37038200
GRCh38: 3:36993350-36996709
12 overlap with 2 genes GRCh37/hg19 3p22.2(chr3:37089011-37116538) CN LOSS Pathogenic
 625694 GRCh37: 3:37089011-37116538
GRCh38:
13 MLH1 NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) SNV Pathogenic
 89738 rs587778913 GRCh37: 3:37038135-37038135
GRCh38: 3:36996644-36996644
14 MLH1 NM_000249.4(MLH1):c.1489dup (p.Arg497fs) DUP Pathogenic
 89753 rs63750855 GRCh37: 3:37070348-37070349
GRCh38: 3:37028857-37028858
15 MLH1 NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro) SNV Pathogenic
 89965 rs63749900 GRCh37: 3:37090087-37090087
GRCh38: 3:37048596-37048596
16 MLH1 NM_000249.4(MLH1):c.306+1G>A SNV Pathogenic
 90142 rs267607734 GRCh37: 3:37042545-37042545
GRCh38: 3:37001054-37001054
17 MLH1 NM_000249.4(MLH1):c.380+1G>A SNV Pathogenic
 90191 rs267607745 GRCh37: 3:37045966-37045966
GRCh38: 3:37004475-37004475
18 MLH1 NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) SNV Pathogenic
Pathogenic
 17099 rs63750217 GRCh37: 3:37090446-37090446
GRCh38: 3:37048955-37048955
19 MSH2 NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) SNV Pathogenic
 90903 rs63750636 GRCh37: 2:47703631-47703631
GRCh38: 2:47476492-47476492
20 MSH2 NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) SNV Pathogenic
 1764 rs63750875 GRCh37: 2:47702310-47702310
GRCh38: 2:47475171-47475171
21 MSH2 NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) SNV Pathogenic
 90804 rs63750508 GRCh37: 2:47702265-47702265
GRCh38: 2:47475126-47475126
22 MSH2 NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) SNV Pathogenic
 1755 rs63751108 GRCh37: 2:47657020-47657020
GRCh38: 2:47429881-47429881
23 MSH2 NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) SNV Pathogenic
 90554 rs63749849 GRCh37: 2:47656951-47656951
GRCh38: 2:47429812-47429812
24 MSH2 NM_000251.3(MSH2):c.1076+1G>A SNV Pathogenic
 90519 rs267607940 GRCh37: 2:47643569-47643569
GRCh38: 2:47416430-47416430
25 MLH1 NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) SNV Pathogenic
 89744 rs63749795 GRCh37: 3:37070324-37070324
GRCh38: 3:37028833-37028833
26 MLH1 NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) SNV Pathogenic
 36540 rs63750540 GRCh37: 3:37067470-37067470
GRCh38: 3:37025979-37025979
27 MLH1 NM_000249.4(MLH1):c.885-1G>A SNV Pathogenic
 580133 rs1553647894 GRCh37: 3:37061800-37061800
GRCh38: 3:37020309-37020309
28 MLH1 NM_000249.4(MLH1):c.588+5G>A SNV Pathogenic
 90285 rs267607768 GRCh37: 3:37053358-37053358
GRCh38: 3:37011867-37011867
29 MLH1 NM_000249.4(MLH1):c.306+5G>A SNV Pathogenic
 90148 rs267607735 GRCh37: 3:37042549-37042549
GRCh38: 3:37001058-37001058
30 MLH1 NM_000249.4(MLH1):c.157G>T (p.Glu53Ter) SNV Pathogenic
 1329486 GRCh37: 3:37038150-37038150
GRCh38: 3:36996659-36996659
31 MSH2 NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs) DUP Pathogenic
 1761 rs1553350126 GRCh37: 2:47635595-47635596
GRCh38: 2:47408456-47408457
32 MLH1 NM_000249.4(MLH1):c.1897-2A>G SNV Likely Pathogenic
 89932 rs267607871 GRCh37: 3:37090006-37090006
GRCh38: 3:37048515-37048515
33 MSH2 NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter) SNV Likely Pathogenic
 1333961 GRCh37: 2:47707995-47707995
GRCh38: 2:47480856-47480856
34 MLH1 NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) SNV Likely Pathogenic
 90014 rs63751275 GRCh37: 3:37090464-37090464
GRCh38: 3:37048973-37048973
35 MLH1 NM_000249.4(MLH1):c.790+1G>A SNV Likely Pathogenic
 90356 rs267607789 GRCh37: 3:37056036-37056036
GRCh38: 3:37014545-37014545
36 MLH1 NM_000249.4(MLH1):c.208-3C>G SNV Likely Pathogenic
 90032 rs267607720 GRCh37: 3:37042443-37042443
GRCh38: 3:37000952-37000952
37 MLH1 NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) SNV Likely Pathogenic
 89953 rs63750610 GRCh37: 3:37090054-37090054
GRCh38: 3:37048563-37048563
38 MLH1 NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) SNV Uncertain Significance
 127619 rs56185292 GRCh37: 3:37083821-37083821
GRCh38: 3:37042330-37042330
39 MSH2 NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) SNV Uncertain Significance
 182576 rs730881768 GRCh37: 2:47637249-47637249
GRCh38: 2:47410110-47410110
40 MSH2 NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro) SNV Uncertain Significance
 127629 rs587779962 GRCh37: 2:47657042-47657042
GRCh38: 2:47429903-47429903
41 MLH1 NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) SNV Uncertain Significance
 182524 rs373767220 GRCh37: 3:37067332-37067332
GRCh38: 3:37025841-37025841
42 MLH1 NM_000249.4(MLH1):c.1558+5G>A SNV Uncertain Significance
 127615 rs199935667 GRCh37: 3:37070428-37070428
GRCh38: 3:37028937-37028937
43 MLH1 NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) SNV Uncertain Significance
 455457 rs774689817 GRCh37: 3:37059050-37059050
GRCh38: 3:37017559-37017559
44 MLH1 NM_000249.4(MLH1):c.-11C>T SNV Uncertain Significance
 421030 rs776898290 GRCh37: 3:37035028-37035028
GRCh38: 3:36993537-36993537
45 MSH2 NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) SNV Uncertain Significance
 90619 rs17217723 GRCh37: 2:47630458-47630458
GRCh38: 2:47403319-47403319
46 MSH2 NM_000251.3(MSH2):c.138C>G (p.His46Gln) SNV Uncertain Significance
 90654 rs33946261 GRCh37: 2:47630468-47630468
GRCh38: 2:47403329-47403329
47 MSH2 NM_000251.3(MSH2):c.435T>G (p.Ile145Met) SNV Uncertain Significance
 91097 rs63750124 GRCh37: 2:47637301-47637301
GRCh38: 2:47410162-47410162
48 MSH2 NM_000251.3(MSH2):c.464T>C (p.Val155Ala) SNV Uncertain Significance
 483732 rs876658188 GRCh37: 2:47637330-47637330
GRCh38: 2:47410191-47410191
49 MSH2 NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) SNV Uncertain Significance
 90512 rs267607939 GRCh37: 2:47643537-47643537
GRCh38: 2:47416398-47416398
50 MLH1 NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) SNV Uncertain Significance
 90132 rs63750266 GRCh37: 3:37042537-37042537
GRCh38: 3:37001046-37001046

Cosmic variations for Muir-Torre Syndrome:

8 (show top 50) (show all 1374)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM91859716 KRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 12:25245350-25245350 6
2 COSM87804005 KRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 12:25245350-25245350 6
3 COSM101951730 HRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 11:534288-534288 6
4 COSM105721382 HRAS skin,trunk,other,keratoacanthoma c.182A>T p.Q61L 11:533874-533874 6
5 COSM101967342 HRAS skin,trunk,other,keratoacanthoma c.181C>A p.Q61K 11:533875-533875 6
6 COSM105721476 HRAS skin,trunk,other,keratoacanthoma c.181C>A p.Q61K 11:533875-533875 6
7 COSM101967369 HRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 11:534288-534288 6
8 COSM112988963 HRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 11:534288-534288 6
9 COSM91331469 HRAS skin,trunk,other,keratoacanthoma c.38G>T p.G13V 11:534285-534285 6
10 COSM101951686 HRAS skin,trunk,other,keratoacanthoma c.181C>A p.Q61K 11:533875-533875 6
11 COSM101951953 HRAS skin,trunk,other,keratoacanthoma c.38G>T p.G13V 11:534285-534285 6
12 COSM91331287 HRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 11:534288-534288 6
13 COSM101967557 HRAS skin,trunk,other,keratoacanthoma c.38G>T p.G13V 11:534285-534285 6
14 COSM91331243 HRAS skin,trunk,other,keratoacanthoma c.181C>A p.Q61K 11:533875-533875 6
15 COSM112989160 HRAS skin,trunk,other,keratoacanthoma c.38G>T p.G13V 11:534285-534285 6
16 COSM105721529 HRAS skin,trunk,other,keratoacanthoma c.35G>A p.G12D 11:534288-534288 6
17 COSM112988925 HRAS skin,trunk,other,keratoacanthoma c.181C>A p.Q61K 11:533875-533875 6
18 COSM105721732 HRAS skin,trunk,other,keratoacanthoma c.38G>T p.G13V 11:534285-534285 6
19 COSM122741017 TP53 skin,trunk,carcinoma,NS c.440G>A p.G147E 17:7673784-7673784 5
20 COSM144653327 TP53 skin,face,carcinoma,NS c.*131C>T p.? 17:7670685-7670685 5
21 COSM112254631 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 5
22 COSM143371865 TP53 skin,face,carcinoma,NS c.469C>T p.R157* 17:7674945-7674945 5
23 COSM93183824 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 17:7674283-7674283 5
24 COSM121875437 TP53 skin,face,carcinoma,NS c.178C>T p.Q60* 17:7674957-7674957 5
25 COSM143388508 TP53 skin,face,carcinoma,NS c.629G>C p.R210T 17:7674217-7674217 5
26 COSM111758868 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 5
27 COSM142570304 TP53 skin,face,carcinoma,NS c.715C>T p.P239S 17:7673788-7673788 5
28 COSM142560384 TP53 skin,face,carcinoma,NS c.616G>T p.G206C 17:7674230-7674230 5
29 COSM142742951 TP53 skin,face,carcinoma,NS c.315G>A p.Q105= 17:7675180-7675180 5
30 COSM105639284 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 5
31 COSM112253879 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 5
32 COSM121878773 TP53 skin,face,carcinoma,NS c.241C>T p.R81* 17:7674894-7674894 5
33 COSM111776406 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 5
34 COSM142837551 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 5
35 COSM122742188 TP53 skin,face,carcinoma,NS c.58C>T p.P20S 17:7675158-7675158 5
36 COSM122735020 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 5
37 COSM88272290 TP53 skin,trunk,carcinoma,NS c.480G>C p.M160I 17:7675132-7675132 5
38 COSM144028845 TP53 skin,face,carcinoma,NS c.679T>A p.C227S 17:7674251-7674251 5
39 COSM144021997 TP53 skin,face,carcinoma,NS c.421C>T p.P141S 17:7675158-7675158 5
40 COSM144015364 TP53 skin,face,carcinoma,NS c.604C>T p.R202* 17:7674894-7674894 5
41 COSM143944858 TP53 skin,trunk,carcinoma,NS c.109C>T p.R37* 17:7674945-7674945 5
42 COSM143156879 TP53 skin,trunk,carcinoma,NS c.245C>T p.S82F 17:7674241-7674241 5
43 COSM144316210 TP53 skin,trunk,carcinoma,NS c.716C>T p.P239L 17:7673787-7673787 5
44 COSM121877621 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 5
45 COSM93201188 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 5
46 COSM106455733 TP53 skin,trunk,carcinoma,NS c.853G>C p.E285Q 17:7673767-7673767 5
47 COSM144658487 TP53 skin,face,carcinoma,NS c.143C>A p.P48Q 17:7676109-7676109 5
48 COSM142639459 TP53 skin,face,carcinoma,NS c.597T>A p.C199* 17:7674249-7674249 5
49 COSM105620390 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 5
50 COSM144014436 TP53 skin,face,carcinoma,NS c.553C>T p.R185* 17:7674945-7674945 5
Sources

Expression for Muir-Torre Syndrome

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Search GEO for disease gene expression data for Muir-Torre Syndrome.
Sources

Pathways for Muir-Torre Syndrome

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Pathways related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Disease 66
Show member pathways
 13.72 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
2
Homology Directed Repair 66
Show member pathways
 13.13 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
3
Regulation of TP53 Activity 66
Show member pathways
 12.86 TP53 PMS2 MSH2 MLH1 CDKN2A BRCA1
4
TCR Signaling (Qiagen) 64
Show member pathways
 12.85 TP53 MSH6 MSH3 MSH2 MLH1 BRCA2
5
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.58 PMS2 MUTYH MSH6 MSH3 MSH2 MLH1
6
Chks in Checkpoint Regulation 64
Show member pathways
 12.54 BRCA1 BRCA2 MSH2 MSH3 MSH6 TP53
7
Endometrial cancer 74
Show member pathways
 12.48 BRCA2 CDKN2A FHIT MLH1 MSH2 MSH3
8
DNA repair pathways, full network 74
Show member pathways
 12.32 PMS2 MUTYH MSH6 MSH3 MSH2 MLH1
9
Integrated breast cancer pathway 74
12.09 TP53 MSH6 MSH2 BRCA2 BRCA1
10
Colorectal Cancer Metastasis 64
12.06 TP53 PTGER4 MSH6 MSH3 MSH2 MLH1
11
DNA Damage 3
12.03 TP53 MUTYH MSH6 MSH2 MLH1 CDKN2A
12
Direct p53 effectors 61
11.97 TP53 PMS2 MSH2 MLH1
13
DNA IR-double strand breaks and cellular response via ATM 74
Show member pathways
 11.84 TP53 CDKN2A BRCA2 BRCA1
14
BRCA1 Pathway 64
Show member pathways
 11.75 TP53 MSH6 MSH2 BRCA2 BRCA1
15
DNA IR-damage and cellular response via ATR 74
11.71 TP53 MSH2 MLH1 BRCA2 BRCA1
16
Base excision repair 74
Show member pathways
 11.63 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2
17
Integrated cancer pathway 74
11.38 TP53 MSH6 MSH2 BRCA1
18
Doxorubicin Pathway, Pharmacokinetics 60
Show member pathways
 11.35 TP53 MSH2 MLH1
19
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.22 MLH1 MSH2 MSH6 PMS2
20
Defective Mismatch Repair Associated With PMS2 66
Show member pathways
 10.19 PMS2 MLH1
Sources

GO Terms for Muir-Torre Syndrome

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Cellular components related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male germ cell nucleus GO:0001673 9.93 MLH3 MLH1 BRCA1
2 nuclear ubiquitin ligase complex GO:0000152 9.73 BRCA2 BRCA1
3 MutLalpha complex GO:0032389 9.67 PMS2 MLH1
4 condensed nuclear chromosome GO:0000794 9.58 MLH3 MLH1 BRCA1
5 MutSalpha complex GO:0032301 9.56 MSH2 MSH6
6 condensed chromosome GO:0000793 9.5 MLH3 MLH1 BRCA1
7 MutSbeta complex GO:0032302 9.46 MSH3 MSH2
8 mismatch repair complex GO:0032300 9.28 PMS2 PMS1 MSH2 MLH3 MLH1
9 chiasma GO:0005712 9.26 MLH3 MLH1

Biological processes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 10.13 BRCA1 BRCA2 MSH2 TP53
2 cellular senescence GO:0090398 10.07 TP53 CDKN2A BRCA2
3 cellular response to ionizing radiation GO:0071479 10.04 TP53 BRCA2 BRCA1
4 DNA repair GO:0006281 10.03 BRCA1 BRCA2 MLH1 MLH3 MSH2 MSH3
5 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 10.02 TP53 MSH2 BRCA2
6 determination of adult lifespan GO:0008340 10.01 TP53 MSH6 MSH2
7 response to X-ray GO:0010165 9.99 TP53 MSH2 BRCA2
8 isotype switching GO:0045190 9.97 MSH6 MSH2 MLH1
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.97 MSH6 MSH2 MLH1 BRCA2 BRCA1
10 negative regulation of DNA recombination GO:0045910 9.93 MSH6 MSH3 MSH2
11 somatic hypermutation of immunoglobulin genes GO:0016446 9.92 PMS2 MSH6 MSH2 MLH1
12 positive regulation of helicase activity GO:0051096 9.91 MSH6 MSH3 MSH2
13 mitotic recombination GO:0006312 9.88 MSH3 MSH2
14 positive regulation of isotype switching to IgA isotypes GO:0048298 9.86 MSH2 MLH1
15 maintenance of DNA repeat elements GO:0043570 9.8 MSH2 MSH3 MSH6
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.8 MSH6 MSH3 MSH2 MLH1
17 cellular response to DNA damage stimulus GO:0006974 9.77 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
18 chordate embryonic development GO:0043009 9.75 BRCA2 BRCA1
19 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.65 MSH2 MLH1
20 mismatch repair GO:0006298 9.53 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2

Molecular functions related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.4 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
2 enzyme binding GO:0019899 10.3 TP53 PMS1 MSH6 MSH3 MSH2 MLH1
3 single-stranded DNA binding GO:0003697 10.13 PMS2 MSH3 MSH2 MLH1 BRCA2
4 MutSalpha complex binding GO:0032407 9.88 MLH1 MUTYH PMS2
5 centromeric DNA binding GO:0019237 9.84 MSH2 MLH3
6 dinucleotide insertion or deletion binding GO:0032139 9.81 MSH3 MSH2
7 single thymine insertion binding GO:0032143 9.8 MSH2 MSH6
8 single guanine insertion binding GO:0032142 9.8 MSH6 MSH3 MSH2
9 oxidized purine DNA binding GO:0032357 9.8 MUTYH MSH6 MSH3 MSH2
10 ATP-dependent DNA damage sensor activity GO:0140664 9.8 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
11 dinucleotide repeat insertion binding GO:0032181 9.78 MSH2 MSH3
12 MutLalpha complex binding GO:0032405 9.77 MUTYH MSH6 MSH2
13 guanine/thymine mispair binding GO:0032137 9.7 MLH1 MSH2 MSH3 MSH6
14 mismatched DNA binding GO:0030983 9.4 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
Sources

Sources for Muir-Torre Syndrome

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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