MCID: BRS056
MIFTS: 47

Breast Metaplastic Carcinoma

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Breast Metaplastic Carcinoma

MalaCards integrated aliases for Breast Metaplastic Carcinoma:

Name: Breast Metaplastic Carcinoma 12 15
Metaplastic Carcinoma of the Breast 12 52 58
Metaplastic Breast Carcinoma 17 71
Metaplastic Carcinoma of Breast 12
Metaplastic Breast Cancer 52

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 12 DOID:4680
NCIt 49 C5164
UMLS via Orphanet 72 C1334708
Orphanet 58 ORPHA213531
UMLS 71 C1334708

Summaries for Breast Metaplastic Carcinoma

NIH Rare Diseases : 52 Metaplastic carcinoma of the breast is a rare form of breast cancer . The tumor cells differ in type from that of the typical ductal or lobular breast cancers . The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps . Treatment of metaplastic carcinoma of the breast is similar to that of invasive ductal cancer .

MalaCards based summary : Breast Metaplastic Carcinoma, also known as metaplastic carcinoma of the breast, is related to breast mucoepidermoid carcinoma and subareolar duct papillomatosis, and has symptoms including pain An important gene associated with Breast Metaplastic Carcinoma is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Gastric cancer and Relaxin signaling pathway. The drugs nivolumab and Ipilimumab have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and bone, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.

Related Diseases for Breast Metaplastic Carcinoma

Diseases related to Breast Metaplastic Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 353)
# Related Disease Score Top Affiliating Genes
1 breast mucoepidermoid carcinoma 31.6 MAML2 KRT5 CRTC1
2 subareolar duct papillomatosis 30.3 KRT7 KRT5
3 female breast cancer 30.2 PGR ESR1 ERBB2
4 carcinosarcoma 30.2 PGR KRT7 ERBB2 EGFR
5 epithelial-myoepithelial carcinoma 30.0 KRT7 KRT14
6 breast adenocarcinoma 29.9 PGR ESR1 ERBB2 EGFR
7 breast fibroadenoma 29.8 PGR KRT14 ESR1 ERBB2
8 inflammatory breast carcinoma 29.8 PGR ESR1 ERBB2 EGFR
9 transitional cell carcinoma 29.7 KRT7 ERBB2 EGFR
10 intraductal papilloma 29.5 PGR KRT5 KRT14 ESR1 ERBB2
11 lipid-rich carcinoma 29.5 PGR KRT5 KRT14 ESR1 ERBB2
12 spindle cell carcinoma 29.2 PGR KRT7 KRT5 KRT14 ESR1
13 tubular adenocarcinoma 29.2 PGR KRT7 ESR1 ERBB2 EGFR
14 papilloma 29.1 KRT7 KRT5 KRT14 ESR1 EGFR
15 in situ carcinoma 29.0 PGR KRT5 KRT14 ESR1 ERBB2 EGFR
16 ductal carcinoma in situ 29.0 PGR KRT5 KRT14 ESR1 ERBB2 EGFR
17 adenoid cystic carcinoma 28.8 PGR KRT7 KRT5 KRT14 ERBB2 EGFR
18 pleomorphic adenoma 28.6 MAML2 KRT7 KRT14 ERBB2 CRTC1
19 adenosquamous carcinoma 28.4 PGR MAML2 KRT7 KRT5 EGFR CRTC1
20 breast squamous cell carcinoma 11.5
21 adenosquamous breast carcinoma 11.5
22 mixed epithelial/mesenchymal metaplastic breast carcinoma 11.5
23 scirrhous adenocarcinoma 10.5 PGR ERBB2
24 breast cystic hypersecretory carcinoma 10.4 KRT5 ERBB2
25 apocrine adenosis of breast 10.4 PGR ERBB2
26 vulva basal cell carcinoma 10.4 KRT5 ERBB2
27 breast adenoid cystic carcinoma 10.4 PGR ERBB2
28 chronic tympanitis 10.4 PGR ESR1
29 bartholin's gland adenoma 10.4 PGR ESR1
30 granulomatous endometritis 10.4 PGR ESR1
31 bartholin's gland benign neoplasm 10.4 PGR ESR1
32 vestibular gland benign neoplasm 10.4 PGR ESR1
33 lung leiomyoma 10.4 PGR ESR1
34 vulvar syringoma 10.4 PGR ESR1
35 trigonitis 10.4 PGR ESR1
36 vagina leiomyosarcoma 10.4 PGR ESR1
37 adult type testicular granulosa cell tumor 10.4 PGR ESR1
38 breast leiomyoma 10.4 PGR ESR1
39 intravenous leiomyomatosis 10.4 PGR ESR1
40 liver leiomyoma 10.4 PGR ESR1
41 mammographic density 10.4 PGR ESR1
42 cervical clear cell adenocarcinoma 10.4 PGR KRT14
43 vulvar leiomyoma 10.4 PGR ESR1
44 bizarre leiomyoma 10.4 PGR ESR1
45 vaginal endometrial stromal sarcoma 10.4 PGR ESR1
46 rare tumor 10.4
47 epidermolysis bullosa simplex, autosomal recessive 1 10.3 KRT5 KRT14
48 odontoma 10.3 KRT5 KRT14
49 vagina sarcoma 10.3 PGR ESR1
50 polyp of corpus uteri 10.3 PGR KRT14

Graphical network of the top 20 diseases related to Breast Metaplastic Carcinoma:



Diseases related to Breast Metaplastic Carcinoma

Symptoms & Phenotypes for Breast Metaplastic Carcinoma

UMLS symptoms related to Breast Metaplastic Carcinoma:


pain

GenomeRNAi Phenotypes related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.86 EGFR
2 Decreased viability GR00107-A-1 9.86 CLK3
3 Decreased viability GR00221-A-1 9.86 EGFR ESR1
4 Decreased viability GR00221-A-2 9.86 CLK3 ESR1
5 Decreased viability GR00221-A-3 9.86 ERBB2
6 Decreased viability GR00221-A-4 9.86 CLK3 EGFR ERBB2 ESR1
7 Decreased viability GR00301-A 9.86 CLK3
8 Decreased viability GR00402-S-2 9.86 CLK3 EGFR ERBB2 ESR1
9 Increased cell viability after pRB stimulation GR00230-A-1 8.8 CLK3 EGFR ERBB2

MGI Mouse Phenotypes related to Breast Metaplastic Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.35 EGFR ERBB2 ESR1 KRT5 PGR
2 neoplasm MP:0002006 9.02 EGFR ERBB2 ESR1 KRT14 PGR

Drugs & Therapeutics for Breast Metaplastic Carcinoma

Drugs for Breast Metaplastic Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2 946414-94-4
2
Ipilimumab Approved Phase 2 477202-00-9
3 Antineoplastic Agents, Immunological Phase 2
4 Antibodies, Monoclonal Phase 2
5 Antibodies Phase 2
6 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2

Search NIH Clinical Center for Breast Metaplastic Carcinoma

Genetic Tests for Breast Metaplastic Carcinoma

Anatomical Context for Breast Metaplastic Carcinoma

MalaCards organs/tissues related to Breast Metaplastic Carcinoma:

40
Breast, Skin, Bone, Lung, Ovary, Thymus, Heart

Publications for Breast Metaplastic Carcinoma

Articles related to Breast Metaplastic Carcinoma:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Metaplastic Carcinoma of the Breast: Analysis of 38 Cases from a Single Institute. 61
31769499 2020
2
Spindle cell metaplastic carcinoma of the breast. 61
31908098 2020
3
PI3K inhibitor provides durable response in metastatic metaplastic carcinoma of the breast: A hidden gem in the BELLE-4 study. 61
30577988 2019
4
Fibrillin-1, a novel TGF-beta-induced factor, is preferentially expressed in metaplastic carcinoma with spindle sarcomatous metaplasia. 61
31010590 2019
5
Metaplastic carcinoma of the breast: Prognosis and response to systemic treatment in metastatic disease. 61
30925636 2019
6
Metaplastic carcinoma of the breast: A diagnostic challenge on fine needle aspiration cytology. 61
30043535 2019
7
Radiologic Findings of a Rare Subtype of Invasive Breast Cancer with Poor Prognosis: Metaplastic Carcinoma of the Breast. 61
31989886 2019
8
Granulocyte-colony-stimulating factor-producing metaplastic carcinoma of the breast with significant elevation of serum interleukin-17 and vascular endothelial growth factor levels. 61
31149526 2018
9
A Soft Microenvironment Protects from Failure of Midbody Abscission and Multinucleation Downstream of the EMT-Promoting Transcription Factor Snail. 61
29483094 2018
10
Imaging Findings of Metaplastic Carcinoma of the Breast with Pathologic Correlation. 61
30039058 2018
11
Clinicopathological features of metaplastic breast carcinoma. 61
29558027 2018
12
Rare variant of metaplastic carcinoma of the breast: a case report and review of the literature. 61
29463294 2018
13
Metaplastic carcinoma of the breast with mesenchymal differentiation (carcinosarcoma). A unique presentation of an aggressive malignancy and literature review. 61
29504519 2018
14
Metaplastic breast carcinoma: Analysis of 31 cases from a single institute. 61
28669452 2017
15
Metaplastic Carcinoma of the Breast Is More Aggressive Than Triple-negative Breast Cancer: A Study From a Single Institution and Review of Literature. 61
28529029 2017
16
Clinicopathological characteristics and prognosis of metaplastic carcinoma of the breast. 61
28781640 2017
17
Primitive squamous cell carcinoma of the breast (SCCB): case report of an uncommon variant of metaplastic carcinoma. 61
29205144 2017
18
Metaplastic carcinoma of the breast: Imaging and pathological features. 61
27895758 2016
19
[Metaplastic carcinoma of the breast: imaging features and clinicopathological characteristics]. 61
27784462 2016
20
Imaging overview of metaplastic carcinomas of the breast: a large study of 71 cases. 61
27245135 2016
21
Metaplastic carcinoma of the breast with widespread telangiectatic form of osteosarcomatous differentiation. 61
26645580 2016
22
[Metaplastic carcinoma of the breast and the impact of the p63 and cytokeratin 5/6: experience of 40 patients]. 61
27424438 2016
23
Pregnancy-like hyperplasia and cystic hypersecretory changes adjacent to metaplastic carcinoma of the breast. 61
26960660 2016
24
[A Case of a Breast Metaplastic Carcinoma with a Giant Cyst]. 61
26805168 2015
25
Four Synchronous Primary Malignancies of the Breast, Lung, Colon and Esophagus. 61
26504043 2015
26
CD99 correlates with low cyclin D1, high topoisomerase 2 status and triple negative molecular phenotype but is prognostically irrelevant in breast carcinoma. 61
26619106 2015
27
Aggressive Metaplastic Carcinoma of the Breast with Osteoclastic Giant Cells. 61
26629304 2015
28
Metaplastic carcinoma of the breast. 61
26030252 2015
29
Cancer stem cell and epithelial-mesenchymal transition markers predict worse outcome in metaplastic carcinoma of the breast. 61
25677743 2015
30
Metaplastic breast cancer: a comparison between the most common histologies with poor immunohistochemistry factors. 61
25881163 2015
31
A case of matrix-producing metaplastic carcinoma of the breast exhibiting similarities to pleomorphic adenoma on fine-needle aspiration cytology. 61
26823890 2015
32
Prognostic factors in metaplastic carcinoma of the breast: a multi-institutional study. 61
25422911 2015
33
Metaplastic breast cancer with chondroid differentiation. 61
26333865 2015
34
[Chondrosarcomatous metaplastic carcinoma of the breast, a rare tumor]. 61
22595382 2014
35
Fibromatosis-like metaplastic carcinoma of the breast has a claudin-low immunohistochemical phenotype. 61
24903673 2014
36
Metaplastic carcinoma of the breast: an immunohistochemical study. 61
25030022 2014
37
Metaplastic carcinoma of the breast: A case report with review of literature. 61
25494151 2014
38
Phenotypic plasticity in normal breast derived epithelial cells. 61
24915897 2014
39
Metaplastic carcinoma of the breast: Treatment, results and prognostic factors based on international literature. 61
24195912 2014
40
Metaplastic carcinoma of the breast with chondroid differentiation (matrix-producing carcinoma): study of the diagnostic cost-effectiveness of fine-needle aspiration biopsy and needle core biopsy. 61
24246799 2014
41
Metaplastic carcinoma of the breast with rhabdo-myosarcomatous element. 61
25006301 2014
42
Metaplastic carcinoma of the breast: A rare carcinoma with chondroid metaplasia. 61
25931882 2014
43
Primary chondroblastic osteosarcoma of the breast. 61
26033758 2014
44
Metaplastic Breast Carcinoma in the Lungs: A Case Report. 61
29147366 2013
45
The prognostic significance of metaplastic carcinoma of the breast (MCB)--a case controlled comparison study with infiltrating ductal carcinoma. 61
23787124 2013
46
Metaplastic carcinoma of the breast with transformation from adenosquamous carcinoma to osteosarcomatoid and spindle cell morphology. 61
24137400 2013
47
Fibrosarcoma: a challenging diagnosis. 61
31528615 2013
48
[Clinical characteristics and survival analysis of 22 cases of pure epithelial breast metaplastic carcinoma]. 61
24257306 2013
49
Molecular alterations in metaplastic breast carcinoma. 61
23372178 2013
50
Matrix-producing carcinoma of the breast: a case report. 61
23741218 2013

Variations for Breast Metaplastic Carcinoma

Cosmic variations for Breast Metaplastic Carcinoma:

9 (show top 50) (show all 328)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149270839 ZFHX3 breast,NS,carcinoma,metaplastic carcinoma c.4282G>A p.A1428T 16:72798400-72798400 24
2 COSM87897914 TP53 breast,NS,carcinoma,metaplastic carcinoma c.527G>T p.C176F 17:7675085-7675085 24
3 COSM87897745 TP53 breast,NS,carcinoma,metaplastic carcinoma c.524G>A p.R175H 17:7675088-7675088 24
4 COSM87901171 TP53 breast,NS,carcinoma,metaplastic carcinoma c.395A>G p.K132R 17:7675217-7675217 24
5 COSM87899887 TP53 breast,NS,carcinoma,metaplastic carcinoma c.856G>A p.E286K 17:7673764-7673764 24
6 COSM87898351 TP53 breast,NS,carcinoma,metaplastic carcinoma c.743G>A p.R248Q 17:7674220-7674220 24
7 COSM87916300 TP53 breast,NS,carcinoma,metaplastic carcinoma c.559+1G>T p.? 17:7675052-7675052 24
8 COSM92935208 RBM10 breast,NS,carcinoma,metaplastic carcinoma c.883C>G p.R295G 23:47179127-47179127 24
9 COSM86640825 RB1 breast,NS,carcinoma,metaplastic carcinoma c.607+2T>A p.? 13:48349025-48349025 24
10 COSM86631064 RB1 breast,NS,carcinoma,metaplastic carcinoma c.1421+1G>C p.? 13:48380085-48380085 24
11 COSM96851572 PTEN breast,NS,carcinoma,metaplastic carcinoma c.402G>T p.M134I 10:87933161-87933161 24
12 COSM87132308 PIK3CA breast,NS,carcinoma,metaplastic carcinoma c.1633G>A p.E545K 3:179218303-179218303 24
13 COSM87132245 PIK3CA breast,NS,carcinoma,metaplastic carcinoma c.3140A>G p.H1047R 3:179234297-179234297 24
14 COSM93686153 NF1 breast,NS,carcinoma,metaplastic carcinoma c.634G>C p.V212L 17:31181469-31181469 24
15 COSM93684555 NF1 breast,NS,carcinoma,metaplastic carcinoma c.3082G>T p.D1028Y 17:31230351-31230351 24
16 COSM86881037 IRS1 breast,NS,carcinoma,metaplastic carcinoma c.3564C>A p.F1188L 2:226795175-226795175 24
17 COSM112989160 HRAS breast,NS,carcinoma,metaplastic carcinoma c.38G>T p.G13V 11:534285-534285 24
18 COSM88026384 FLT4 breast,NS,carcinoma,metaplastic carcinoma c.2890G>T p.V964L 5:180618881-180618881 24
19 COSM141964068 FBXW7 breast,NS,carcinoma,metaplastic carcinoma c.1418+2T>G p.? 4:152328206-152328206 24
20 COSM150915971 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.125C>G p.T42R 3:41224637-41224637 24
21 COSM150913524 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.98C>G p.S33C 3:41224610-41224610 24
22 COSM150920852 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.97T>A p.S33T 3:41224609-41224609 24
23 COSM150914069 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.110C>A p.S37Y 3:41224622-41224622 24
24 COSM119229461 CDKN2A breast,NS,carcinoma,metaplastic carcinoma c.238C>T p.R80* 9:21971121-21971121 24
25 COSM119255539 CDKN2A breast,NS,carcinoma,metaplastic carcinoma c.104G>T p.G35V 9:21974724-21974724 24
26 COSM88891939 APC breast,NS,carcinoma,metaplastic carcinoma c.3928A>T p.K1310* 5:112839522-112839522 24
27 COSM88878203 APC breast,NS,carcinoma,metaplastic carcinoma c.4616C>G p.S1539* 5:112840210-112840210 24
28 COSM150733597 breast,NS,carcinoma,metaplastic carcinoma c.77C>G p.S26C 3:41224610-41224610 24
29 COSM102023841 breast,NS,carcinoma,metaplastic carcinoma c.1540G>A p.A514T 16:72798400-72798400 24
30 COSM151979892 breast,NS,carcinoma,metaplastic carcinoma c.110C>A p.S37Y 3:41224622-41224622 24
31 COSM93534586 breast,NS,carcinoma,metaplastic carcinoma c.634G>C p.V212L 17:31181469-31181469 24
32 COSM149383649 breast,NS,carcinoma,metaplastic carcinoma c.98C>G p.S33C 3:41224610-41224610 24
33 COSM149973543 breast,NS,carcinoma,metaplastic carcinoma c.76T>A p.S26T 3:41224609-41224609 24
34 COSM151558491 breast,NS,carcinoma,metaplastic carcinoma c.98C>G p.S33C 3:41224610-41224610 24
35 COSM93183490 breast,NS,carcinoma,metaplastic carcinoma c.527G>T p.C176F 17:7675085-7675085 24
36 COSM143943797 breast,NS,carcinoma,metaplastic carcinoma c.266G>A p.R89Q 17:7674220-7674220 24
37 COSM120516671 breast,NS,carcinoma,metaplastic carcinoma c.634G>C p.V212L 17:31181469-31181469 24
38 COSM119517378 breast,NS,carcinoma,metaplastic carcinoma c.214G>C p.V72L 17:31181469-31181469 24
39 COSM121154437 breast,NS,carcinoma,metaplastic carcinoma c.-3-3516G>T p.? 9:21974724-21974724 24
40 COSM129356649 breast,NS,carcinoma,metaplastic carcinoma c.194-3516G>T p.? 9:21974724-21974724 24
41 COSM142837093 breast,NS,carcinoma,metaplastic carcinoma c.524G>A p.R175H 17:7675088-7675088 24
42 COSM151593674 breast,NS,carcinoma,metaplastic carcinoma c.125C>G p.T42R 3:41224637-41224637 24
43 COSM120401214 breast,NS,carcinoma,metaplastic carcinoma c.-3-3516G>T p.? 9:21974724-21974724 24
44 COSM143370869 breast,NS,carcinoma,metaplastic carcinoma c.626G>A p.R209Q 17:7674220-7674220 24
45 COSM150279506 breast,NS,carcinoma,metaplastic carcinoma c.125C>G p.T42R 3:41224637-41224637 24
46 COSM111758576 breast,NS,carcinoma,metaplastic carcinoma c.743G>A p.R248Q 17:7674220-7674220 24
47 COSM150873918 breast,NS,carcinoma,metaplastic carcinoma c.76T>A p.S26T 3:41224609-41224609 24
48 COSM151980025 breast,NS,carcinoma,metaplastic carcinoma c.125C>G p.T42R 3:41224637-41224637 24
49 COSM149480245 breast,NS,carcinoma,metaplastic carcinoma c.98C>G p.S33C 3:41224610-41224610 24
50 COSM149584616 breast,NS,carcinoma,metaplastic carcinoma c.98C>G p.S33C 3:41224610-41224610 24

Expression for Breast Metaplastic Carcinoma

Search GEO for disease gene expression data for Breast Metaplastic Carcinoma.

Pathways for Breast Metaplastic Carcinoma

GO Terms for Breast Metaplastic Carcinoma

Cellular components related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.85 PGR MAML2 KRT7 KRT5 KRT14 ESR1
2 cytoplasm GO:0005737 9.65 RAB11B PGR KRT7 KRT5 KRT14 ESR1
3 intermediate filament GO:0005882 9.43 KRT7 KRT5 KRT14
4 keratin filament GO:0045095 8.8 KRT7 KRT5 KRT14

Biological processes related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 PGR MAML2 ESR1 EGFR CRTC1
2 keratinization GO:0031424 9.67 KRT7 KRT5 KRT14
3 positive regulation of protein kinase B signaling GO:0051897 9.61 ESR1 ERBB2 EGFR
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.58 PGR MAML2 ESR1
5 protein autophosphorylation GO:0046777 9.54 ERBB2 EGFR CLK3
6 peptidyl-tyrosine phosphorylation GO:0018108 9.5 ERBB2 EGFR CLK3
7 regulation of ERK1 and ERK2 cascade GO:0070372 9.48 ERBB2 EGFR
8 cornification GO:0070268 9.43 KRT7 KRT5 KRT14
9 hemidesmosome assembly GO:0031581 9.16 KRT5 KRT14
10 epidermis development GO:0008544 9.13 KRT5 KRT14 EGFR
11 negative regulation of ERBB signaling pathway GO:1901185 8.62 ERBB2 EGFR

Molecular functions related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 PGR ESR1 ERBB2 EGFR CLK3
2 steroid binding GO:0005496 9.26 PGR ESR1
3 protein tyrosine kinase activity GO:0004713 9.13 ERBB2 EGFR CLK3
4 nitric-oxide synthase regulator activity GO:0030235 8.62 ESR1 EGFR

Sources for Breast Metaplastic Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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