KERSEB
MCID: KRT071
MIFTS: 57

Keratosis, Seborrheic (KERSEB)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Keratosis, Seborrheic

MalaCards integrated aliases for Keratosis, Seborrheic:

Name: Keratosis, Seborrheic 57 19 75 73 43 38
Seborrheic Keratosis 11 19 28 53 5 14 16 71
Keratosis, Seborrheic, Somatic 57 12
Keratosis Seborrheica 19
Basal Cell Papilloma 19
Kerseb 73

Characteristics:


Inheritance:

Autosomal dominant form 57

Classifications:



External Ids:

Disease Ontology 11 DOID:6498
OMIM® 57 182000
ICD9CM 34 702.1
MeSH 43 D017492
NCIt 49 C9006
SNOMED-CT 68 201096007
ICD10 31 L82
MedGen 40 C0022603
SNOMED-CT via HPO 69 239107007 25201003
UMLS 71 C0022603

Summaries for Keratosis, Seborrheic

GARD: 19 Seborrheic keratosis is a benign (non cancerous) tumor found on the skin. Seborrheic keratoses are the most common benign tumor in older individuals. They usually appear as multiple small, flat or raised growths that range in color from white to black and are commonly found on the face, neck, chest, shoulders, and hands. They usually do not cause symptoms, but occasionally can itch and rub or catch on clothing, causing irritation. Scratching seborrheic keratoses or trying to pick them off the skin can result in a secondary infection. The cause of Seborrheic keratosis is not well understood; however, a combination of environmental factors, such as sun exposure and genetic factors may play a role.

MalaCards based summary: Keratosis, Seborrheic, also known as seborrheic keratosis, is related to inflamed seborrheic keratosis and clear cell acanthoma. An important gene associated with Keratosis, Seborrheic is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Endometrial cancer and Burn wound healing. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and cervix, and related phenotypes are epidermal nevus and seborrheic keratosis

UniProtKB/Swiss-Prot: 73 A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance.

OMIM®: 57 Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000) (Updated 24-Oct-2022)

Wikipedia: 75 A seborrheic keratosis is a non-cancerous (benign) skin tumour that originates from cells in the outer... more...

Related Diseases for Keratosis, Seborrheic

Diseases related to Keratosis, Seborrheic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 373)
# Related Disease Score Top Affiliating Genes
1 inflamed seborrheic keratosis 32.6 CD1E CD1A
2 clear cell acanthoma 32.2 KRT5 KRT10
3 melanoacanthoma 32.2 TYR MLANA FGFR3 DPH3
4 basal cell carcinoma 31.1 TYR TP53 MC1R KRT5 KRT10 CDKN2A
5 anogenital venereal wart 31.1 TP53 TMC8 CDKN2A
6 common wart 31.0 TP53 TMC8 TMC6
7 in situ carcinoma 31.0 TP53 PIK3CA KRT5 CDKN2A
8 nevus, epidermal 30.9 PIK3CA KRT10 FGFR3
9 skin benign neoplasm 30.9 TYR TP53 MLANA KRT5 FGFR3
10 papilloma 30.9 TP53 KRT5 KRT10 FGFR3 CDKN2A
11 eccrine acrospiroma 30.8 KRT5 KRT10
12 keratoacanthoma 30.8 TP53 PIK3CA KRT10 CD1A
13 dermatosis papulosa nigra 30.8 FGFR3 DPH3
14 epidermodysplasia verruciformis 1 30.7 TP53 TMC8 TMC6 CDKN2A
15 lichen planus 30.6 TP53 KRT10 CD1A
16 adenoid squamous cell carcinoma 30.5 TP53 KRT5
17 dowling-degos disease 1 30.5 TYR MITF KRT5 FGFR3
18 inverted transitional papilloma 30.4 KRT5 CDKN2A
19 verrucous carcinoma 30.4 TP53 PIK3CA KRT5 CDKN2A
20 sebaceous adenocarcinoma 30.4 TP53 MLANA KRT5 CDKN2A
21 skin squamous cell carcinoma 30.4 TP53 KRT5 KRT10 CDKN2A
22 cutaneous ganglioneuroma 30.4 PIK3CA MITF FOXN1 FGFR3
23 pigmented basal cell carcinoma 30.4 MLANA MITF
24 porokeratosis 30.3 TP53 TMC8 KRT10 FGFR3
25 actinic keratosis 30.2 TP53 TMC8 MLANA MC1R KRT10 CDKN2A
26 lichen nitidus 30.2 CD1E CD1B CD1A
27 granuloma annulare 30.2 CD1E CD1B CD1A
28 seborrheic dermatitis 30.2 CD1E CD1B CD1A
29 folliculitis 30.2 CD1E CD1B CD1A
30 breast adenocarcinoma 30.1 TP53 PIK3CA KRT5 CDKN2A
31 skin melanoma 30.1 TYR TP53 PIK3CA MLANA MITF MC1R
32 leprosy 3 30.1 CD1E CD1B CD1A
33 keratosis 30.1 TP53 TMC8 PIK3CA MC1R KRT5 KRT10
34 skin carcinoma 30.0 TYR TP53 TMC8 TMC6 MLANA MITF
35 melanoma in congenital melanocytic nevus 29.8 TYR TP53 MLANA MITF MC1R CDKN2A
36 skin disease 29.2 TYR TP53 PIK3CA MLANA MITF MC1R
37 acanthoma 29.0 TYR TP53 TMC8 TMC6 PIK3CA MLANA
38 vulvar seborrheic keratosis 11.6
39 inverted follicular keratosis 11.2
40 basal cell carcinoma 1 10.8
41 melanoma 10.7
42 squamous cell carcinoma 10.6
43 bowen's disease 10.5
44 muir-torre syndrome 10.4
45 anal canal paget's disease 10.4 MLANA CDKN2A
46 vulval paget's disease 10.4 MLANA CDKN2A
47 ciliary body cancer 10.4 TYR MLANA
48 vaginal carcinosarcoma 10.4 TP53 PIK3CA
49 endometrial squamous cell carcinoma 10.4 TP53 CDKN2A
50 diffuse meningeal melanocytosis 10.3 TYR MLANA

Comorbidity relations with Keratosis, Seborrheic via Phenotypic Disease Network (PDN):


Hypertension, Essential Keratosis

Graphical network of the top 20 diseases related to Keratosis, Seborrheic:



Diseases related to Keratosis, Seborrheic

Symptoms & Phenotypes for Keratosis, Seborrheic

Human phenotypes related to Keratosis, Seborrheic:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epidermal nevus 30 HP:0010816
2 seborrheic keratosis 30 HP:0031287

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skin:
seborrheic keratoses
congenital seborrheic verrucae

Clinical features from OMIM®:

182000 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Keratosis, Seborrheic according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 CCHCR1 CD1A CD1B CD1E CDKN2A DPH3
2 no effect GR00402-S-2 10.14 CCHCR1 CD1A CD1E CDKN2A DPH3 FGFR3

MGI Mouse Phenotypes related to Keratosis, Seborrheic:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 CDKN2A DPH3 FGFR3 FOXN1 GDA KRT10
2 immune system MP:0005387 10.1 CCHCR1 CDKN2A FGFR3 FOXN1 GDA KRT10
3 neoplasm MP:0002006 10.08 CDKN2A FGFR3 FOXN1 KRT10 MC1R PIK3CA
4 no phenotypic analysis MP:0003012 10.06 CDKN2A FGFR3 MC1R MITF MLANA PIK3CA
5 pigmentation MP:0001186 10.04 CDKN2A FOXN1 MC1R MITF MLANA TP53
6 limbs/digits/tail MP:0005371 10.03 FGFR3 KRT10 KRT5 MC1R MITF TGFB2
7 hearing/vestibular/ear MP:0005377 10.01 FGFR3 FOXN1 KRT10 MC1R MITF TGFB2
8 craniofacial MP:0005382 9.92 FGFR3 KRT10 KRT5 MC1R MITF TGFB2
9 reproductive system MP:0005389 9.85 CDKN2A FGFR3 FOXN1 MITF PIK3CA TGFB2
10 skeleton MP:0005390 9.65 CDKN2A FGFR3 FOXN1 GDA MITF PIK3CA
11 integument MP:0010771 9.47 CCHCR1 CDKN2A FGFR3 FOXN1 KRT10 KRT5

Drugs & Therapeutics for Keratosis, Seborrheic

Drugs for Keratosis, Seborrheic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
2 Pharmaceutical Solutions Phase 4
3
Petrolatum Approved, Investigational 8009-03-8
4
Fusidic acid Approved, Investigational 6990-06-3 3000226
5
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
6
Lidocaine Approved, Vet_approved 137-58-6 3676
7
Chlorhexidine Approved, Vet_approved 55-56-1 2713 9552079
8 Anti-Infective Agents
9 Anti-Bacterial Agents
10 Emollients
11 Anesthetics
12 Epinephryl borate
13 Dermatologic Agents
14 Chlorhexidine gluconate

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 An Open-Label Study Assessing Subject Satisfaction With A-101 Hydrogen Peroxide Topical Solution, 40% (w/w) Treatment for Seborrheic Keratoses of the Face, Neck, and Decolletage Completed NCT03487588 Phase 4 A-101 Topical Solution
2 An Open-Label Study of the Safety of A-101 Solution 40% in Subjects With Seborrheic Keratosis on the Trunk, Extremities and Face. Completed NCT02667288 Phase 3 A-101 Solution
3 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Study of the Safety and Effectiveness of A-101 Solution 40% in Subjects With Seborrheic Keratosis on the Trunk, Extremities and Face. Completed NCT02667236 Phase 3 A-101 Solution
4 A Randomized, Double-Blind, Vehicle-Controlled, PArallel Group Study of the Safety and Effectiveness of A-101 Solution 40% in Subjects With Seborrheic Keratosis on the Trunk, Extremities and Face. Completed NCT02667275 Phase 3 A-101 Solution
5 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Study of the Dose-Response Profile of A-101 Topical Solution in Subjects With Seborrheic Keratosis of the Face Completed NCT02260180 Phase 2 A-101
6 A Randomized, Double-Blind, Vehicle-Controlled, Within-Subject, Comparison Study of the Safety, Tolerability, And Effectiveness of A-101 Topical Solution in Subjects With Seborrheic Keratosis Completed NCT01986920 Phase 1, Phase 2 A-101 25%;A-101 32.5%;A-101 40%;A-101 Vehicle
7 A Randomized, Double-Blind, Vehicle Controlled, Parallel Group Study of the Dose-Response Profile of A-101 Topical Solution in Subjects With Seborrheic Keratosis. Completed NCT02160626 Phase 2 A-101 Vehicle;A-101 (40) Topical Solution;A-101 (32.5) Topical Solution
8 A Phase 2 Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Study of the Safety and Effectiveness of A-101(Hydrogen Peroxide) Topical Solution in Subjects With Seborrheic Keratosis Lesions on the Trunk, Extremities, and Face Completed NCT03148691 Phase 2 A-101
9 A Phase 2a, Multi-Centre, Open-Label Study to Evaluate the Safety and Efficacy of PEP005(Ingenol Mebutate) Gel, 0.05%, in Patients With Seborrhoeic Keratosis on Non-head Locations Completed NCT01214564 Phase 2 PEP005 (ingenol mebutate) Gel
10 Open Label Adaptive Design Study to Explore the Safety and Efficacy of Multiple Treatment Regimens With the Akt Inhibitor SM-020 in 1.0% and 0.1% Gel Formulations in Subjects With Seborrheic Keratosis Recruiting NCT05136144 Phase 2 SM-020
11 Fast Track Diagnosis of Skin Tumours by Four Different Advanced Imaging Technologies - a Clinical Study Unknown status NCT04229277
12 Evaluation of Nano-Pulse Stimulation (NPS) in Patients With Seborrheic Keratosis Completed NCT03846531
13 Optical Biopsy of Human Skin in Conjunction With Laser Treatment Completed NCT00540566
14 Effectiveness of Sodium Fusidate Ointment Compared to Petrolatum for Wound Healing Following Cauterization: A Double-Blind Randomized Controlled Trial Completed NCT05353374 Sodium Fusidate 2 % Topical Ointment;Petrolatum ointment
15 Is Cryosurgery or Curettage More Effective at Treating Seborrheic Keratoses? Completed NCT01159860
16 Efficacy of a 585 nm Pulsed Dye Laser (PDL) for the Treatment of Dermatosis Papulosa Nigra, and Compare it to Therapy With Curettage and Electrodesiccation. Completed NCT00710203
17 Prospective, Open-Label, Multi-Center, Non-Significant Risk Study of Nano-Pulse Stimulation™ (NPS™) Technology in Healthy Adults With Seborrheic Keratosis Active, not recruiting NCT04249115
18 Comparative Study of Electrical Impedance Spectroscopy (EIS) Models Against Verified Dermatological Diagnostic Data Suspended NCT04688749
19 Comparing the Efficacy and Risk of Adverse Events of Electrocautery Versus 532 nm Qswitched Neodymium-doped Yttrium Aluminium Garnet Laser for the Treatment of Flat Seborrheic Keratoses: A Randomized Control Trial Withdrawn NCT02366559

Search NIH Clinical Center for Keratosis, Seborrheic

Cochrane evidence based reviews: keratosis, seborrheic

Genetic Tests for Keratosis, Seborrheic

Genetic tests related to Keratosis, Seborrheic:

# Genetic test Affiliating Genes
1 Seborrheic Keratosis 28 PIK3CA

Anatomical Context for Keratosis, Seborrheic

Organs/tissues related to Keratosis, Seborrheic:

MalaCards : Skin, Liver, Cervix, Breast, Smooth Muscle, Eye, T Cells

Publications for Keratosis, Seborrheic

Articles related to Keratosis, Seborrheic:

(show top 50) (show all 1020)
# Title Authors PMID Year
1
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 53 62 57 5
15772091 2005
2
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 53 57 5
17673550 2007
3
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations. 5
34496175 2021
4
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. 5
26266985 2015
5
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. 5
26266975 2015
6
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 5
23100325 2013
7
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 5
22658544 2012
8
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 5
22729223 2012
9
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 5
22729224 2012
10
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 5
22729222 2012
11
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 5
18642369 2008
12
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 5
16841094 2006
13
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 5
15608678 2005
14
Mutation of the PIK3CA gene in ovarian and breast cancer. 5
15520168 2004
15
High frequency of mutations of the PIK3CA gene in human cancers. 5
15016963 2004
16
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 5
12833394 2003
17
Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). 5
11529856 2001
18
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 5
10471491 1999
19
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. 5
10073901 1999
20
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 5
9677066 1998
21
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. 5
8858131 1996
22
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 5
8589699 1995
23
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 5
7773297 1995
24
Familial congenital multiple seborrheic verrucae. 57
143912 1977
25
FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes. 53 62
20420824 2010
26
Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. 53 62
17255960 2007
27
Dysregulated expression of transforming growth factor beta and its type-I and type-II receptors in basal-cell carcinoma. 53 62
9178800 1997
28
Cutaneous Ganglioneuromas With Overlying Epidermal Hyperplasia: A Case Series Presentation and Proposal of Potential Etiopathogenesis. 62
35925148 2022
29
Demodicosis as a Skin Complication in Organ Transplant Recipients: A Case Series. 62
36206203 2022
30
Diagnostic accuracy of dermoscopy for 934 basal cell carcinomas: A single-center retrospective study. 62
36229917 2022
31
Update of Pathophysiology and Treatment Options of Seborrheic Keratosis. 62
36226729 2022
32
Clonal-pattern Seborrheic Keratosis: Risk of Recurrence and Progression to Carcinoma. 62
36221316 2022
33
A Case of Seborrheic Keratosis on the Volar Side of the Fingers after Skin Graft. 62
36198635 2022
34
Study on the correlation of high expression level of HuD with seborrheic keratosis and skin aging. 62
36065721 2022
35
New diagnostic approach in seborrheic keratosis: Cryosign. 62
36136098 2022
36
Utility of 30% hydrogen peroxide in the treatment of seborrheic keratosis. 62
35094378 2022
37
Verrucous Melanoma of the Scalp Initially Misdiagnosed as Seborrheic Keratosis. 62
36249606 2022
38
Facial skin characteristics and concerns in Indonesia: A cross-sectional observational study. 62
35785442 2022
39
Adipophilin expression in skin lesions with clear cell histology. 62
33952590 2022
40
In vivo evaluation of facial papule dermatoses with reflectance confocal microscopy in children. 62
35726961 2022
41
Three-dimensional representation of triple spectral line imaging data as an option for noncontact skin diagnostics. 62
36114603 2022
42
Dermatopathology of Malignant Melanoma in the Era of Artificial Intelligence: A Single Institutional Experience. 62
36010322 2022
43
Human papillomavirus genotype distribution of genital keratotic lesions. 62
35545860 2022
44
Ungual seborrheic keratosis with longitudinal melanonychia: A case report. 62
35429058 2022
45
Evaluation of a Deep Learning Approach to Differentiate Bowen's Disease and Seborrheic Keratosis. 62
35884578 2022
46
Reconstruction of the Defect at Temporal Hairline by a Scalp Keystone Island Flap: Clinical Experience on 14 Cases. 62
35119399 2022
47
Classification of skin cancer using convolutional neural networks analysis of Raman spectra. 62
35349907 2022
48
[Occult basal cell carcinoma intermingling with seborrheic keratosis of the eyelid : A clinicopathological case report]. 62
34043084 2022
49
Effectiveness of a cosmetic device containing a combination of alpha- and beta-hydroxy acids, urea, and thuja for the treatment of seborrheic keratoses. 62
34263966 2022
50
2940-nm erbium:YAG laser versus 980-nm diode laser in the treatment of multiple seborrheic keratoses: A prospective comparative randomized study. 62
35579410 2022

Variations for Keratosis, Seborrheic

ClinVar genetic disease variations for Keratosis, Seborrheic:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) SNV Pathogenic
13652 rs121913279 GRCh37: 3:178952085-178952085
GRCh38: 3:179234297-179234297
2 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV Pathogenic
13655 rs104886003 GRCh37: 3:178936091-178936091
GRCh38: 3:179218303-179218303
3 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
4 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
5 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) SNV Pathogenic
39705 rs121913281 GRCh37: 3:178952084-178952084
GRCh38: 3:179234296-179234296
6 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) SNV Uncertain Significance
526641 rs755969956 GRCh37: 3:178917561-178917561
GRCh38: 3:179199773-179199773
7 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) SNV Uncertain Significance
403909 rs113613074 GRCh37: 3:178922361-178922361
GRCh38: 3:179204573-179204573

UniProtKB/Swiss-Prot genetic disease variations for Keratosis, Seborrheic:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg248Cys VAR_004148 rs121913482
2 FGFR3 p.Ser249Cys VAR_004149 rs121913483
3 FGFR3 p.Gly370Cys VAR_004151 rs121913479
4 FGFR3 p.Ser371Cys VAR_004152 rs121913484
5 FGFR3 p.Tyr373Cys VAR_004153 rs121913485
6 FGFR3 p.Lys650Glu VAR_004160 rs78311289
7 FGFR3 p.Lys650Met VAR_004161 rs121913105
8 PIK3CA p.Glu542Lys VAR_026173 rs121913273
9 PIK3CA p.Glu545Gly VAR_026177 rs121913274
10 PIK3CA p.Glu545Lys VAR_026178 rs104886003
11 PIK3CA p.His1047Arg VAR_026192 rs121913279

Cosmic variations for Keratosis, Seborrheic:

8 (show top 50) (show all 88)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM142560375 TP53 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 10
2 COSM143664176 TP53 skin,face,other,keratosis c.167C>T p.S56F 17:7676085-7676085 10
3 COSM88264321 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 10
4 COSM87898458 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 10
5 COSM144013535 TP53 skin,face,other,keratosis c.647C>T p.S216F 17:7674283-7674283 10
6 COSM144345273 TP53 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 10
7 COSM143370962 TP53 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 10
8 COSM143156898 TP53 skin,face,other,keratosis c.376G>A p.E126K 17:7673767-7673767 10
9 COSM112271356 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 10
10 COSM111776633 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 10
11 COSM111802255 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 10
12 COSM111758655 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 10
13 COSM121895107 TP53 skin,face,other,keratosis c.262T>A p.Y88N 17:7674873-7674873 10
14 COSM142605302 TP53 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 10
15 COSM112296759 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 10
16 COSM144029046 TP53 skin,face,other,keratosis c.625T>A p.Y209N 17:7674873-7674873 10
17 COSM105673018 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 10
18 COSM144984225 TP53 skin,face,other,keratosis c.167C>T p.S56F 17:7676085-7676085 10
19 COSM144325001 TP53 skin,face,other,keratosis c.541T>A p.Y181N 17:7674873-7674873 10
20 COSM105947517 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 10
21 COSM145017841 TP53 skin,face,other,keratosis c.563C>T p.S188F 17:7674283-7674283 10
22 COSM144013457 TP53 skin,face,other,keratosis c.820G>A p.E274K 17:7673767-7673767 10
23 COSM106053265 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 10
24 COSM93482742 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 10
25 COSM87898544 TP53 skin,face,other,keratosis c.680C>T p.S227F 17:7674283-7674283 10
26 COSM144670223 TP53 skin,face,other,keratosis c.541T>A p.Y181N 17:7674873-7674873 10
27 COSM105639626 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 10
28 COSM106070054 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 10
29 COSM145316791 TP53 skin,face,other,keratosis c.167C>T p.S56F 17:7676085-7676085 10
30 COSM142577206 TP53 skin,face,other,keratosis c.541T>A p.Y181N 17:7674873-7674873 10
31 COSM144100850 TP53 skin,face,other,keratosis c.181T>A p.Y61N 17:7674873-7674873 10
32 COSM145057476 TP53 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 10
33 COSM122288472 TP53 skin,face,other,keratosis c.262T>A p.Y88N 17:7674873-7674873 10
34 COSM122314636 TP53 skin,face,other,keratosis c.106C>T p.H36Y 17:7675110-7675110 10
35 COSM142850810 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 10
36 COSM121876085 TP53 skin,face,other,keratosis c.457G>A p.E153K 17:7673767-7673767 10
37 COSM144696180 TP53 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 10
38 COSM122734253 TP53 skin,face,other,keratosis c.457G>A p.E153K 17:7673767-7673767 10
39 COSM142560436 TP53 skin,face,other,keratosis c.563C>T p.S188F 17:7674283-7674283 10
40 COSM143959507 TP53 skin,face,other,keratosis c.181T>A p.Y61N 17:7674873-7674873 10
41 COSM106095670 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 10
42 COSM144651221 TP53 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 10
43 COSM112253698 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 10
44 COSM93201428 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 10
45 COSM143371041 TP53 skin,face,other,keratosis c.563C>T p.S188F 17:7674283-7674283 10
46 COSM143171478 TP53 skin,face,other,keratosis c.181T>A p.Y61N 17:7674873-7674873 10
47 COSM87949256 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 10
48 COSM143943874 TP53 skin,face,other,keratosis c.376G>A p.E126K 17:7673767-7673767 10
49 COSM112056954 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 10
50 COSM145017758 TP53 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 10

Expression for Keratosis, Seborrheic

Search GEO for disease gene expression data for Keratosis, Seborrheic.

Pathways for Keratosis, Seborrheic

GO Terms for Keratosis, Seborrheic

Cellular components related to Keratosis, Seborrheic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005887 9.55 TMC8 TMC6 MLANA MC1R FGFR3 CD1E
2 plasma membrane GO:0005886 9.55 TMC6 MLANA MC1R FGFR3 CD1E CD1A

Biological processes related to Keratosis, Seborrheic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.65 TYR MITF MC1R
2 positive regulation of T cell mediated cytotoxicity GO:0001916 9.63 CD1E CD1B CD1A
3 T cell lineage commitment GO:0002360 9.62 TP53 FOXN1
4 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.43 CD1E CD1B CD1A
5 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.1 CD1E CD1B CD1A

Molecular functions related to Keratosis, Seborrheic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.63 CD1E CD1B CD1A
2 exogenous lipid antigen binding GO:0030884 9.43 CD1E CD1B CD1A
3 endogenous lipid antigen binding GO:0030883 9.1 CD1E CD1B CD1A

Sources for Keratosis, Seborrheic

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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