KERSEB
MCID: KRT071
MIFTS: 56

Keratosis, Seborrheic (KERSEB)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis, Seborrheic

MalaCards integrated aliases for Keratosis, Seborrheic:

Name: Keratosis, Seborrheic 57 74 20 73 44 39
Seborrheic Keratosis 12 20 29 54 6 15 17 71
Keratosis, Seborrheic, Somatic 57 13
Keratosis Seborrheica 20
Basal Cell Papilloma 20
Kerseb 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant form


HPO:

31
keratosis, seborrheic:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:6498
OMIM® 57 182000
ICD9CM 34 702.1
MeSH 44 D017492
NCIt 50 C9006
SNOMED-CT 67 201096007
ICD10 32 L82
MedGen 41 C0022603
SNOMED-CT via HPO 68 124975008 239107007 25201003
UMLS 71 C0022603

Summaries for Keratosis, Seborrheic

GARD : 20 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. Treatment may not be needed depending on the size and location of the seborrheic keratoses. When treatment is desired, topically applied creams and acids and surgery may be considered.

MalaCards based summary : Keratosis, Seborrheic, also known as seborrheic keratosis, is related to clear cell acanthoma and inflamed seborrheic keratosis. 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 Pathways in cancer and MicroRNAs in cancer. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and eye, and related phenotypes are epidermal nevus and seborrheic keratosis

OMIM® : 57 Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Keratosis, seborrheic: 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.

Wikipedia : 74 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 392)
# Related Disease Score Top Affiliating Genes
1 clear cell acanthoma 32.3 KRT10 IVL
2 inflamed seborrheic keratosis 32.2 CD1E CD1D CD1C CD1B CD1A
3 melanoacanthoma 32.1 TYR MLANA KRT7
4 bowen's disease 31.0 KRT7 KRT10 IVL
5 squamous cell papilloma 30.9 TP53 CDKN2A
6 dermatosis papulosa nigra 30.8 PIK3CA FGFR3
7 nevus, epidermal 30.8 PIK3CA KRT10 IVL FGFR3
8 dowling-degos disease 1 30.7 TYR KRT5 FGFR3
9 in situ carcinoma 30.7 TP53 PIK3CA KRT5 KRT17 CDKN2A
10 lentigo maligna melanoma 30.6 MLANA MC1R
11 sebaceous adenocarcinoma 30.6 TP53 MLANA KRT5
12 squamous cell carcinoma 30.4 TP53 PIK3CA KRT7 IVL FGFR3 CDKN2A
13 eccrine acrospiroma 30.4 KRT7 KRT5 KRT17 KRT10
14 lichen planus 30.4 TP53 KRT10 IVL CD1A
15 verrucous carcinoma 30.4 TP53 KRT5 KRT10 CDKN2A
16 lichen nitidus 30.3 CD1E CD1C CD1B CD1A
17 seborrheic dermatitis 30.3 CD1E CD1C CD1B CD1A
18 merkel cell carcinoma 30.3 TP53 KRT7 CDKN2A
19 porokeratosis 30.3 TP53 IVL FGFR3
20 keratoacanthoma 30.3 TP53 KRT17 KRT10 IVL CD1A
21 papilloma 30.2 TP53 KRT7 KRT5 KRT10 IVL FGFR3
22 skin benign neoplasm 30.2 TYR MLANA KRT7 KRT5 FGFR3
23 skin melanoma 30.2 TYR TP53 PIK3CA MLANA MC1R CDKN2A
24 muir-torre syndrome 30.1 TP53 KRT7 CDKN2A
25 inverted transitional papilloma 30.1 KRT7 KRT5 CDKN2A
26 small cell carcinoma 30.1 TP53 KRT7 CDKN2A
27 basal cell carcinoma 30.1 TYR TP53 MC1R KRT7 KRT5 KRT17
28 actinic keratosis 30.1 TYR TP53 MC1R KRT17 CDKN2A
29 granuloma annulare 30.0 CD1E CD1D CD1C CD1B CD1A
30 folliculitis 30.0 CD1E CD1D CD1C CD1B CD1A
31 epidermolytic hyperkeratosis 30.0 KRT5 KRT17 KRT10 IVL
32 clear cell basal cell carcinoma 29.8 TP53 KRT7 KRT5 KRT17
33 keratosis 29.8 TP53 PIK3CA KRT5 KRT17 KRT10 IVL
34 skin disease 29.6 TYR TP53 MC1R KRT5 KRT17 KRT10
35 skin carcinoma 29.2 TYR TP53 PIK3CA MLANA MC1R KRT7
36 acanthoma 29.2 TP53 PIK3CA MLANA KRT5 KRT17 KRT10
37 vulvar seborrheic keratosis 11.5
38 epidermodysplasia verruciformis 1 11.2
39 melanoma 10.6
40 breast juvenile papillomatosis 10.4 PIK3CA FGFR3
41 actinic cheilitis 10.4 TP53 FGFR3
42 malignant leptomeningeal tumor 10.4 TYR MLANA
43 meningeal melanoma 10.4 TYR MLANA
44 ciliary body cancer 10.4 TYR MLANA
45 halo nevi 10.4 TYR MLANA
46 spinal cord melanoma 10.4 TYR MLANA
47 melanomatosis 10.4 TYR MLANA
48 diffuse meningeal melanocytosis 10.4 TYR MLANA
49 dendritic cell thymoma 10.4 CD1E CD1A
50 skin sarcoidosis 10.4 CD1C CD1B

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:

31
# Description HPO Frequency HPO Source Accession
1 epidermal nevus 31 HP:0010816
2 seborrheic keratosis 31 HP:0031287

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin:
seborrheic keratoses
congenital seborrheic verrucae

Clinical features from OMIM®:

182000 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Keratosis, Seborrheic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.81 CDKN2A FGFR3 KRT17 KRT5 MC1R MLANA
2 no phenotypic analysis MP:0003012 9.56 CDKN2A FGFR3 KRT17 MC1R MLANA PIK3CA
3 pigmentation MP:0001186 9.1 CDKN2A KRT17 MC1R MLANA TP53 TYR

Drugs & Therapeutics for Keratosis, Seborrheic

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

(show all 10)
# 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
Racepinephrine Approved 329-65-7 838
4
Lidocaine Approved, Vet_approved 137-58-6 3676
5
Epinephrine Approved, Vet_approved 51-43-4 5816
6
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
7 Anesthetics
8 Epinephryl borate
9 Chlorhexidine gluconate
10 Dermatologic Agents

Interventional clinical trials:

(show all 17)
# 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 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
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 NCT02667275 Phase 3 A-101 Solution
4 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
5 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
6 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
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 of the Face Completed NCT02260180 Phase 2 A-101
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 Prospective, Open-Label, Multi-Center, Non-Significant Risk Study of Nano-Pulse Stimulation™ (NPS™) Technology in Healthy Adults With Seborrheic Keratosis Completed NCT04249115
11 Evaluation of Nano-Pulse Stimulation (NPS) in Patients With Seborrheic Keratosis Completed NCT03846531
12 Is Cryosurgery or Curettage More Effective at Treating Seborrheic Keratoses? Completed NCT01159860
13 Optical Biopsy of Human Skin in Conjunction With Laser Treatment Completed NCT00540566
14 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
15 Comparative Study of Electrical Impedance Spectroscopy (EIS) Models Against Verified Dermatological Diagnostic Data Recruiting NCT04688749
16 Fast Track Diagnosis of Skin Tumours by Four Different Advanced Imaging Technologies - a Clinical Study Active, not recruiting NCT04229277
17 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 29 PIK3CA

Anatomical Context for Keratosis, Seborrheic

MalaCards organs/tissues related to Keratosis, Seborrheic:

40
Skin, Breast, Eye, Cervix, Heart, Smooth Muscle, Colon

Publications for Keratosis, Seborrheic

Articles related to Keratosis, Seborrheic:

(show top 50) (show all 904)
# Title Authors PMID Year
1
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 61 54 57 6
15772091 2005
2
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 54 57 6
17673550 2007
3
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. 6
26266985 2015
4
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. 6
26266975 2015
5
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 6
23100325 2013
6
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 6
22658544 2012
7
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 6
22729223 2012
8
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 6
22729224 2012
9
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 6
22729222 2012
10
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 6
18642369 2008
11
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 6
16841094 2006
12
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 6
15608678 2005
13
Mutation of the PIK3CA gene in ovarian and breast cancer. 6
15520168 2004
14
High frequency of mutations of the PIK3CA gene in human cancers. 6
15016963 2004
15
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 6
12833394 2003
16
Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). 6
11529856 2001
17
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 6
10471491 1999
18
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. 6
10073901 1999
19
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 6
9677066 1998
20
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. 6
8858131 1996
21
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 6
8589699 1995
22
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 6
7773297 1995
23
Familial congenital multiple seborrheic verrucae. 57
143912 1977
24
FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes. 54 61
20420824 2010
25
Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. 54 61
17255960 2007
26
Dysregulated expression of transforming growth factor beta and its type-I and type-II receptors in basal-cell carcinoma. 54 61
9178800 1997
27
Combination treatment algorithm for pigmentary disorders of the face: A prospective observational study in Asian patients. 61
33046430 2021
28
The dermoscopic inverse approach significantly improves the accuracy of human readers for lentigo maligna diagnosis. 61
32592885 2021
29
Seborrheic keratosis in the auricle. 61
33547111 2021
30
In vivo diagnosis of skin cancer with a portable Raman spectroscopic device. 61
33566431 2021
31
Combining Reflective Confocal Microscopy and Dynamic Optical Coherence Tomography to Diagnose Melanoacanthoma: Case Report. 61
33606373 2021
32
Hydrogen Peroxide 40% for the Treatment of Seborrheic Keratoses. 61
32646224 2021
33
Artificial intelligence in dermatopathology: Diagnosis, education, and research. 61
33421167 2021
34
False-Positive Uptake of 131I From Basal Cell Papilloma in a Patient With Metastatic Papillary Thyroid Cancer. 61
33492860 2021
35
The diagnostic value of p63, p16, and p53 immunohistochemistry in distinguishing seborrheic keratosis, actinic keratosis, and Bowen's disease. 61
33497503 2021
36
Reflectance confocal microscopy: Diagnostic criteria of common benign and malignant neoplasms, dermoscopic and histopathologic correlates of key confocal criteria, and diagnostic algorithms. 61
32565210 2021
37
Teledermatology reduces dermatology referrals and improves access to specialists. 61
33437950 2020
38
Aminolevulinate photodynamic therapy (ALA-PDT) for giant seborrheic keratosis of the head: A case report. 61
32950725 2020
39
Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis. 61
33262542 2020
40
The effects of skin lesion segmentation on the performance of dermatoscopic image classification. 61
32882594 2020
41
Dermoscopy image-based self-learning on computer improves diagnostic performance of medical students compared with classroom-style lecture in ultra-short period. 61
32885874 2020
42
[Usefulness and efficiency of teledermoscopy in skin cancer management in primary care]. 61
32826148 2020
43
Evaluation of ultrahigh-resolution optical coherence tomography for basal cell carcinoma, seborrheic keratosis, and nevus. 61
33141994 2020
44
Cutaneous horn associated to seborrheic keratosis in eyelid margin. 61
32565018 2020
45
Development of a light-weight deep learning model for cloud applications and remote diagnosis of skin cancers. 61
33211346 2020
46
Comparison of Dermoscopic Features Between Melanoacanthomas and Melanoacanthoma-Like Malignant Melanomas in Korean Patients. 61
33242988 2020
47
In vivo reflectance confocal microscopy for evaluating seborrheic keratosis, verruca plana, syringoma and lichen nitidus. 61
33174647 2020
48
Comparative evaluation of topical diclofenac sodium versus topical ibuprofen in the treatment of seborrheic keratosis. 61
33022801 2020
49
Polymorphic Vessels-Think About Seborrheic Keratosis. 61
33150031 2020
50
Topical rapamycin for acanthosis nigricans in the Fitzpatrick IV/V adolescent population. 61
33099783 2020

Variations for Keratosis, Seborrheic

ClinVar genetic disease variations for Keratosis, Seborrheic:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
2 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV Pathogenic 13655 rs104886003 3:178936091-178936091 3:179218303-179218303
3 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
4 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
5 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
6 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) SNV Uncertain significance 526641 rs755969956 3:178917561-178917561 3:179199773-179199773
7 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) SNV Uncertain significance 403909 rs113613074 3:178922361-178922361 3:179204573-179204573

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

73
# 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.Glu545Gly VAR_026177 rs121913274
9 PIK3CA p.Glu545Lys VAR_026178 rs104886003

Cosmic variations for Keratosis, Seborrheic:

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

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 lysosome GO:0005764 9.72 TYR CD1E CD1D CD1C CD1B
2 endosome GO:0005768 9.63 WDR44 CD1E CD1D CD1C CD1B CD1A
3 intermediate filament GO:0005882 9.56 KRT7 KRT5 KRT17 KRT10
4 external side of plasma membrane GO:0009897 9.35 CD1E CD1D CD1C CD1B CD1A
5 endosome membrane GO:0010008 9.02 WDR44 CD1D CD1C CD1B CD1A

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.83 CD1E CD1D CD1C CD1B CD1A
2 keratinization GO:0031424 9.72 KRT7 KRT5 KRT17 KRT10 IVL
3 regulation of immune response GO:0050776 9.67 CD1D CD1C CD1B CD1A
4 cornification GO:0070268 9.65 KRT7 KRT5 KRT17 KRT10 IVL
5 positive regulation of T cell mediated cytotoxicity GO:0001916 9.55 CD1E CD1D CD1C CD1B CD1A
6 melanin biosynthetic process GO:0042438 9.46 TYR MC1R
7 somatic stem cell division GO:0048103 9.4 TGFB2 CDKN2A
8 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.35 CD1E CD1D CD1C CD1B CD1A
9 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.02 CD1E CD1D CD1C CD1B CD1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 WDR44 TYR TP53 TGFB2 PIK3CA OXNAD1
2 lipopeptide binding GO:0071723 9.55 CD1E CD1D CD1C CD1B CD1A
3 exogenous lipid antigen binding GO:0030884 9.35 CD1E CD1D CD1C CD1B CD1A
4 MDM2/MDM4 family protein binding GO:0097371 9.26 TP53 CDKN2A
5 endogenous lipid antigen binding GO:0030883 9.02 CD1E CD1D CD1C CD1B CD1A

Sources for Keratosis, Seborrheic

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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