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EMPD
MCID: PGT003
MIFTS: 47

Paget Disease, Extramammary (EMPD)

Categories: Cancer diseases, Endocrine diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Paget Disease, Extramammary

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MalaCards integrated aliases for Paget Disease, Extramammary:

Name: Paget Disease, Extramammary 57 20 44
Extramammary Paget Disease 20 58 17
Paget Disease Extramammary 73 70
Cutaneous Paget's Disease 12 15
Extramammary Paget's Disease 12
Extramammary Pagets Disease 54
Cutaneous Paget Disease 12
Paget's Disease of Skin 12
Empd 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
rare familial cases


Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Reproductive diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3450
OMIM® 57 167300
MeSH 44 D010145
NCIt 50 C3302
MESH via Orphanet 45 D010145
ICD10 via Orphanet 33 C44.5
UMLS via Orphanet 71 C0030186
Orphanet 58 ORPHA2800
MedGen 41 C0030186
UMLS 70 C0030186
Sources

Summaries for Paget Disease, Extramammary

About this section
GARD : 20 Extramammary Paget disease (EMPD) is characterized by a chronic eczema -like rash of the skin around the genital regions of males and females. Under the microscope, this condition looks very similar to a condition that occurs on the breast called mammary Paget disease. The primary difference between the two is the location of the rash. While the location of the rash for individuals with mammary Paget disease is around the nipple and areolar skin, EMPD may occur in the vulva, perianal region, scrotum, penis, and axilla. EMPD most often occurs in women between age 50 to 60. About 25 percent of extramammary Paget disease is associated with an underlying cancer. Treatment typically includes surgery. Prognosis varies depending on how early the disorder was diagnosed and treated as well as the association with an underlying cancer.

MalaCards based summary : Paget Disease, Extramammary, also known as extramammary paget disease, is related to appendix adenocarcinoma and adenocarcinoma in situ. An important gene associated with Paget Disease, Extramammary is KRT7 (Keratin 7), and among its related pathways/superpathways is Cytoskeletal Signaling. The drugs Imiquimod and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and breast, and related phenotypes are neoplasm and eczematoid dermatitis

Disease Ontology : 12 A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.

Wikipedia : 73 Extramammary Paget's Disease (EMPD), is a rare and slow-growing malignancy which occurs within the... more...

More information from OMIM: 167300
Sources

Related Diseases for Paget Disease, Extramammary

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Diseases related to Paget Disease, Extramammary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 477)
# Related Disease Score Top Affiliating Genes
1 appendix adenocarcinoma 31.0 KRT7 KRT20
2 adenocarcinoma in situ 30.9 KRT7 KRT20 CEACAM5
3 transitional cell carcinoma 30.7 KRT7 KRT20 ERBB4 ERBB2
4 tinea cruris 30.7 PIP MIR31 KRT7
5 teratoma 30.7 KRT7 KRT20 CEACAM5
6 in situ carcinoma 30.7 PIP MUC1 KRT5 ERBB2
7 scrotum paget's disease 30.6 MUC1 KRT7
8 eccrine porocarcinoma 30.5 MUC1 KRT7 CEACAM5
9 anal canal carcinoma 30.4 PIP KRT7 KRT20
10 adenocarcinoma 30.4 MUC1 KRT7 KRT20 ERBB4 ERBB2 CEACAM5
11 anal paget's disease 30.4 PIP MLANA KRT7 CEACAM5
12 anal canal adenocarcinoma 30.4 PIP KRT7 KRT20 CEACAM5
13 merkel cell carcinoma 30.4 MUC1 KRT7 KRT20
14 intestinal obstruction 30.3 KRT7 KRT20 CEACAM5
15 mature teratoma 30.3 KRT7 ERBB2 CEACAM5
16 syringoma 30.3 MUC1 KRT7 CEACAM5
17 squamous cell carcinoma 30.3 MUC1 KRT7 ERBB4 ERBB2 CEACAM5
18 papillary serous adenocarcinoma 30.3 KRT7 KRT20 CEACAM5
19 papilloma 30.3 KRT7 KRT5 KRT20 ERBB2
20 rectum adenocarcinoma 30.3 PIP KRT7 KRT20 ERBB2 CEACAM5
21 anal canal paget's disease 30.3 PIP MLANA KRT7
22 mucinous adenocarcinoma 30.2 MUC1 KRT7 KRT20 ERBB2 CEACAM5
23 basal cell carcinoma 30.2 KRT7 KRT5 KRT20 CEACAM5
24 vulvar disease 30.2 PIP KRT7 ERBB2 CEACAM5
25 benign teratoma 30.1 MUC1 KRT7 KRT20 CEACAM5
26 vulva cancer 30.1 PIP KRT7 ERBB2 CEACAM5
27 colorectal adenocarcinoma 30.1 MUC1 KRT7 KRT20 ERBB2 CEACAM5
28 eccrine papillary adenocarcinoma 30.0 PIP KRT7 KRT5 CEACAM5
29 intraductal papilloma 30.0 KRT7 KRT5 ERBB2
30 small cell carcinoma 29.9 MUC1 KRT7 KRT20 ERBB2 AR
31 linitis plastica 29.9 PIP KRT7 KRT20 ERBB2 CEACAM5
32 ductal carcinoma in situ 29.9 PIP MUC1 KRT5 ERBB2 AR
33 mammary paget's disease 29.9 PIP MUC1 KRT7 KRT20 ERBB2 AR
34 breast ductal carcinoma 29.8 PIP MUC1 KRT7 KRT5 ERBB2 AR
35 gastrointestinal carcinoma 29.8 MUC1 KRT20 CEACAM7 CEACAM5
36 colon adenocarcinoma 29.7 KRT20 ERBB2 CEACAM7 CEACAM5
37 keratosis, seborrheic 29.7 MLANA KRT7 KRT5 CEACAM5
38 sweat gland benign neoplasm 29.7 PIP KRT7 KRT5 CEACAM5
39 signet ring cell adenocarcinoma 29.7 PIP MUC1 KRT7 KRT20 ERBB2 CEACAM5
40 vulval paget's disease 29.6 PIP MLANA KRT7 ERBB2 EBAG9 CEACAM5
41 apocrine adenocarcinoma 29.6 PIP MUC1 KRT7 KRT5 ERBB2 CEACAM3
42 rectum cancer 29.6 MIR31 KRT20 CEACAM7 CEACAM5 CEACAM3
43 bile duct cancer 29.6 MUC1 MIR31 KRT7 KRT20 ERBB2 CEACAM5
44 endocervical adenocarcinoma 29.5 MUC1 KRT7 KRT20 ERBB2 CEACAM5 CEACAM3
45 hidradenoma 29.5 PIP MUC1 KRT7 KRT5 CEACAM5
46 sweat gland cancer 29.4 PIP KRT7 KRT5 KRT20 ERBB2 CEACAM5
47 skin benign neoplasm 29.4 PIP MLANA KRT7 KRT5 KRT20
48 sebaceous adenocarcinoma 29.3 PIP MLANA KRT5 ERBB2 AR
49 endometrial cancer 29.1 MUC1 KRT7 KRT20 ERBB2 EBAG9 CEACAM5
50 skin carcinoma 28.9 PIP MLANA MIR31 KRT7 KRT5 KRT20

Graphical network of the top 20 diseases related to Paget Disease, Extramammary:



Diseases related to Paget Disease, Extramammary
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Symptoms & Phenotypes for Paget Disease, Extramammary

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Human phenotypes related to Paget Disease, Extramammary:

31
# Description HPO Frequency HPO Source Accession
1 neoplasm 31 HP:0002664
2 eczematoid dermatitis 31 HP:0000976

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Oncology:
extramammary paget disease
internal malignancy

Skin:
eczematous eruptions with weeping and crust formation

Clinical features from OMIM®:

167300 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Paget Disease, Extramammary

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Drugs for Paget Disease, Extramammary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
2
Acetaminophen Approved Phase 3 103-90-2 1983
3
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
4
Petrolatum Approved, Investigational Phase 3 8009-03-8
5 Immunologic Factors Phase 3
6 Adjuvants, Immunologic Phase 3
7 interferons Phase 3
8 Anti-Arrhythmia Agents Phase 3
9 Sodium Channel Blockers Phase 3
10 Analgesics, Non-Narcotic Phase 3
11 Anesthetics Phase 3
12 Analgesics Phase 3
13 Dermatologic Agents Phase 3
14 Diuretics, Potassium Sparing Phase 3
15 Anesthetics, Local Phase 3
16 Emollients Phase 3
17 Antipyretics Phase 3
18
Ipilimumab Approved Phase 2 477202-00-9
19
nivolumab Approved Phase 2 946414-94-4
20
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
21 Antineoplastic Agents, Immunological Phase 2
22 Antibodies Phase 2
23 Immunoglobulins Phase 2
24 Antibodies, Monoclonal Phase 2
25 Methyl 5-aminolevulinate
26 Photosensitizing Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Topical 5% Imiquimod Cream for Vulvar Paget's Disease: Clinical Efficacy, Safety and Immunological Response Completed NCT02385188 Phase 3 Imiquimod;paracetamol;lidocaine in Vaseline ointment
2 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
3 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
4 A Pilot Study of Topical Imiquimod Therapy for the Treatment of Recurrent Extramammary Paget's Disease Completed NCT00504023 imiquimod
5 Videoscopic Versus Open Inguinal Lymphadenectomy for Sentinel Node Positive Cutaneous Malignancies and Genitourinary Staging Procedures Completed NCT01526486
6 Prospective Registry of Gynecologic Patients With Extramammary Paget's Disease Recruiting NCT03564483
7 An Interventional, Phase II, Non Randomized, Mono-centric Study on the Clinical Efficacy and Safety of the Medical Device PAGETEX® as a Photodynamic Therapy Device in the Treatment of Extra-Mammary Paget's Disease of the Vulva (EMPV) Recruiting NCT03713203

Search NIH Clinical Center for Paget Disease, Extramammary

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Alendronate
Etidronate
Etidronate Disodium
pamidronate
Pamidronate Disodium
Risedronate
risedronate sodium
Tiludronate
Tiludronate disodium

Cochrane evidence based reviews: paget disease, extramammary

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Genetic Tests for Paget Disease, Extramammary

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Anatomical Context for Paget Disease, Extramammary

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MalaCards organs/tissues related to Paget Disease, Extramammary:

40
Skin, Lymph Node, Breast, Prostate, Cervix, Bone, Brain
Sources

Publications for Paget Disease, Extramammary

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Articles related to Paget Disease, Extramammary:

(show top 50) (show all 296)
# Title Authors PMID Year
1
Familial occurrence of extramammary Paget's disease. 57
4345608 1973
2
Anogenital (extramammary) Paget's disease. A clinicopathological study. 57
13953662 1963
3
HER-2/neu expression in extramammary Paget disease: a clinicopathologic and immunohistochemistry study of 47 cases with and without underlying malignancy. 54 61
19519604 2009
4
Unifocality of extramammary Paget disease. 61 54
19119096 2008
5
HER-2 gene amplification in Paget disease of the nipple and extramammary site: a chromogenic in situ hybridization study. 61 54
16932067 2006
6
HER-2/neu expression in Paget disease of the vulva and the female breast. 61 54
15491754 2004
7
68Ga-FAPI and 18F-FDG PET/CT in Perineum Extramammary Paget Disease. 61
33577199 2021
8
Treatment of Extramammary Paget Disease and the Role of Reflectance Confocal Microscopy: A Prospective Study. 61
33625139 2021
9
Mohs micrographic surgery for male genital tumors: Local recurrence rates and patient-reported outcomes. 61
33279645 2021
10
Unbiased Detection of Driver Mutations in Extramammary Paget Disease. 61
33323405 2021
11
Utility of photodynamic diagnosis plus reflectance confocal microscopy in detecting the margins of extramammary Paget disease. 61
33769727 2021
12
Usefulness of Topical Imiquimod 3.75% in Cytokeratin 7 Positive Extramammary Paget Disease of the Vulva: Towards Personalized Therapy. 61
33747624 2021
13
Aberrant Melan-A Expression in Extramammary Paget Disease. 61
33795560 2021
14
Atypical Non-neoplastic Changes in Anogenital Mammary-like Glands Accompanying Invasive Squamous Cell Carcinoma. 61
32897970 2021
15
A population-level analysis of nonsquamous penile cancer: The importance of histology. 61
33257222 2021
16
Neutrophil/lymphocyte ratio as a predictor of lymph node metastasis in extramammary Paget disease: A retrospective study. 61
33482256 2021
17
Treatment of Metastatic Extramammary Paget Disease with Combination Ipilimumab and Nivolumab: A Case Report. 61
33790764 2021
18
Modified peripheral and central Mohs micrographic surgery for improved margin control in extramammary Paget disease. 61
33354612 2021
19
Vulvar Intraepithelial Neoplasia: A Review of the Disease and Current Management. 61
33506879 2021
20
Primary adenocarcinomas of the vulva and related structures: An enigmatic and diverse group of tumors✰. 61
33032903 2021
21
Extramammary Paget disease of the vulva. 61
32921571 2021
22
Hypopigmentation in Extramammary Paget Disease Is an Important Prognostic Factor for High Recurrence Rate and Poor Surgical Outcome. 61
33481430 2021
23
PD-L1 Expression in Extramammary Paget Disease: A Case Series. 61
32149830 2021
24
Atypical cells on reflectance confocal microscopy may not represent melanoma: A case of axillary pigmented extramammary Paget disease. 61
32643790 2020
25
Outcomes in patients with extramammary Paget disease with brain metastasis: A retrospective analysis. 61
32450098 2020
26
"Dark Paget" Cells in Extramammary Paget Disease: A Staining Artifact and Diagnostic Pitfall. 61
33264132 2020
27
Characteristic Clinicopathological Features of Secondary Extramammary Paget Disease With Underlying Anorectal Adenocarcinoma: Evenly Circumferential Perianal Distribution, Fibroepithelioma of Pinkus-like Changes, and Subepidermal Mucin Deposits Without Invasive Tumor Cells. 61
33395042 2020
28
Extramammary Paget disease of the vulva (VEMPD) with perianal involvement: a 30-year experience. 61
30430813 2020
29
Expression of lipoma preferred partner in mammary and extramammary Paget disease. 61
33371071 2020
30
Non-human-papillomavirus-related malignancies of the vulva: A clinicopathological study. 61
32511773 2020
31
Metastatic extramammary paget disease, a remarkable clinical case and a brief review of a rare disease. 61
33408837 2020
32
Extramammary Paget Disease of the Scrotum: A Contemporary Clinicopathologic Analysis of 20 Cases in the United States. 61
31290785 2020
33
PD-1 signaling in extramammary paget disease. 61
32717007 2020
34
Extramammary Paget Disease. 61
32278442 2020
35
Mohs micrographic surgery: a treatment method for many non-melanocytic skin cancers. 61
32621679 2020
36
Usefulness of real-time elastography for diagnosing lymph node metastasis of skin cancer: does elastography potentially eliminate the need for sentinel lymph node biopsy in squamous cell carcinoma? 61
31520558 2020
37
Extramammary Paget disease of the vulva: Management and prognosis. 61
31780234 2020
38
P16 Expression in Primary Vulvar Extramammary Paget Disease. 61
31033795 2020
39
Exploratory Assessment of Oxygen Flow-Assisted Cutaneous Administration of Methotrexate for Superficial Basal Cell Carcinoma, Mycosis Fungoides, and Extramammary Paget Disease. 61
31513804 2020
40
Imaging Features of Extramammary Paget Disease of the Scrotum: A Case Report. 61
29727346 2020
41
Extramammary Paget Disease: A Review of the Literature-Part I: History, Epidemiology, Pathogenesis, Presentation, Histopathology, and Diagnostic Work-up. 61
31356440 2020
42
The effect of the lymphovascular plugging metastasis pattern in extramammary Paget disease on identifying metastatic lesions using imaging tests: an autopsy case series. 61
31420863 2020
43
Advanced extramammary Paget disease treated with neoadjuvant chemotherapy: A report of two cases. 61
31318039 2020
44
Co-occurrence of apocrine adenocarcinoma and invasive mammary-type ductal carcinoma in extramammary Paget disease of the axilla. 61
31964128 2020
45
A Case of Concurrent Extramammary Paget Disease and Basal Cell Carcinoma of the Perianal Region. 61
32095406 2020
46
Nonsurgical Treatments for Extramammary Paget Disease: A Systematic Review and Meta-Analysis. 61
32289785 2020
47
Genomic Alterations as Potential Therapeutic Targets in Extramammary Paget's Disease of the Vulva. 61
33015527 2020
48
Photodynamic Therapy Using a New Painless Light-Emitting Fabrics Device in the Treatment of Extramammary Paget Disease of the Vulva (the PAGETEX Study): Protocol for an Interventional Efficacy and Safety Trial. 61
31793891 2019
49
Ultrasound Biomicroscopy and High-Frequency Ultrasound for Evaluating Extramammary Paget Disease With Pathologic Correlation. 61
31144340 2019
50
Extramammary Paget Disease-A Challenging Case. 61
30807292 2019
Sources

Variations for Paget Disease, Extramammary

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Cosmic variations for Paget Disease, Extramammary:

9 (show top 50) (show all 112)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85473645 TSHR skin,scrotum,carcinoma,NS c.979G>A p.E327K 14:81143037-81143037 9
2 COSM131090745 TSHR skin,scrotum,carcinoma,NS c.979G>A p.E327K 14:81143037-81143037 9
3 COSM107894721 TP63 skin,penis,carcinoma,NS c.1910C>T p.A637V 3:189894381-189894381 9
4 COSM113474690 TP63 skin,penis,carcinoma,NS c.1385C>T p.A462V 3:189894381-189894381 9
5 COSM88644633 TP63 skin,penis,carcinoma,NS c.1922C>T p.A641V 3:189894381-189894381 9
6 COSM114684035 TP63 skin,penis,carcinoma,NS c.1628C>T p.A543V 3:189894381-189894381 9
7 COSM90478215 TP63 skin,penis,carcinoma,NS c.*150C>T p.? 3:189894381-189894381 9
8 COSM89453262 TP63 skin,penis,carcinoma,NS c.1640C>T p.A547V 3:189894381-189894381 9
9 COSM93183307 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
10 COSM144013113 TP53 skin,penis,carcinoma,NS c.491G>A p.R164H 17:7675088-7675088 9
11 COSM143943565 TP53 skin,penis,carcinoma,NS c.47G>A p.R16H 17:7675088-7675088 9
12 COSM143370595 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
13 COSM144309944 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
14 COSM142559914 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
15 COSM105619860 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
16 COSM122733880 TP53 skin,penis,carcinoma,NS c.128G>A p.R43H 17:7675088-7675088 9
17 COSM121875575 TP53 skin,penis,carcinoma,NS c.128G>A p.R43H 17:7675088-7675088 9
18 COSM142837093 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
19 COSM122271291 TP53 skin,penis,carcinoma,NS c.128G>A p.R43H 17:7675088-7675088 9
20 COSM106052917 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
21 COSM144086975 TP53 skin,penis,carcinoma,NS c.47G>A p.R16H 17:7675088-7675088 9
22 COSM143156608 TP53 skin,penis,carcinoma,NS c.47G>A p.R16H 17:7675088-7675088 9
23 COSM112253124 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
24 COSM145017326 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
25 COSM87897745 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
26 COSM111758247 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
27 COSM144650780 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
28 COSM123124384 TET2 skin,scrotum,carcinoma,NS c.3833C>T p.T1278M 4:105243745-105243745 9
29 COSM133376012 TET2 skin,scrotum,carcinoma,NS c.3770C>T p.T1257M 4:105243745-105243745 9
30 COSM98645072 TET2 skin,scrotum,carcinoma,NS c.3770C>T p.T1257M 4:105243745-105243745 9
31 COSM89622461 SF3B1 skin,scrotum,carcinoma,NS c.3661G>C p.E1221Q 2:197393067-197393067 9
32 COSM92933808 RBM10 skin,scrotum,carcinoma,NS c.502C>T p.R168W 23:47171133-47171133 9
33 COSM145517422 RBM10 skin,scrotum,carcinoma,NS c.201+1635C>T p.? 23:47171133-47171133 9
34 COSM100934282 RBM10 skin,scrotum,carcinoma,NS c.307C>T p.R103W 23:47171133-47171133 9
35 COSM90889863 RBM10 skin,scrotum,carcinoma,NS c.201+1635C>T p.? 23:47171133-47171133 9
36 COSM117792294 PIK3CB skin,scrotum,carcinoma,NS c.277G>C p.E93Q 3:138755874-138755874 9
37 COSM84193579 PIK3CB skin,scrotum,carcinoma,NS c.277G>C p.E93Q 3:138755874-138755874 9
38 COSM148932717 PIK3CA skin,scrotum,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 9
39 COSM148933429 PIK3CA skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 9
40 COSM87132301 PIK3CA skin,scrotum,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 9
41 COSM87133066 PIK3CA skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 9
42 COSM88066927 PBRM1 skin,scrotum,carcinoma,NS c.3057G>C p.K1019N 3:52587419-52587419 9
43 COSM102912184 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 9
44 COSM102946925 PBRM1 skin,scrotum,carcinoma,NS c.3102G>C p.K1034N 3:52587419-52587419 9
45 COSM101252563 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 9
46 COSM101262095 PBRM1 skin,scrotum,carcinoma,NS c.2982G>C p.K994N 3:52587419-52587419 9
47 COSM91773104 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 9
48 COSM91781187 PBRM1 skin,scrotum,carcinoma,NS c.3057G>C p.K1019N 3:52587419-52587419 9
49 COSM88059177 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 9
50 COSM93612884 PBRM1 skin,scrotum,carcinoma,NS c.2961G>C p.K987N 3:52587419-52587419 9
Sources

Expression for Paget Disease, Extramammary

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Search GEO for disease gene expression data for Paget Disease, Extramammary.
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Pathways for Paget Disease, Extramammary

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Pathways related to Paget Disease, Extramammary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
11.41 MUC1 KRT7 KRT5 KRT20
Sources

GO Terms for Paget Disease, Extramammary

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Cellular components related to Paget Disease, Extramammary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.92 MUC1 ERBB2 CEACAM7 CEACAM5

Biological processes related to Paget Disease, Extramammary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mammary gland alveolus development GO:0060749 8.96 ERBB4 AR
2 cornification GO:0070268 8.8 KRT7 KRT5 KRT20
Sources

Sources for Paget Disease, Extramammary

About this section
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
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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