| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Annular epidermolytic ichthyosis |
Likely pathogenic; Pathogenic |
rs2143150768, rs59075499 |
RCV002283888 RCV000015681 |
| Congenital reticular ichthyosiform erythroderma |
Pathogenic; Likely pathogenic |
rs2143131560, rs2143133654, rs2143130756, rs2143150768, rs587776815, rs587776816, rs587776817, rs267607384 |
RCV001619783 RCV001619784 RCV001619785 RCV001730093 RCV003140427 RCV000015682 RCV000015683 RCV000015684 RCV000015685 |
| Epidermolytic hyperkeratosis 1 |
Pathogenic |
rs58075662, rs61434181 |
RCV004786265 RCV004593969 |
| Epidermolytic hyperkeratosis 2A, autosomal dominant |
Likely pathogenic; Pathogenic |
rs2143131560, rs60118264, rs57784225, rs58414354, rs58075662, rs58026994, rs58901407 |
RCV003988887 RCV004593963 RCV004593964 RCV004593965 RCV004562211 RCV004593966 RCV004593968 RCV004593970 |
| Epidermolytic hyperkeratosis 2B, autosomal recessive |
Pathogenic |
rs60035576, rs387906640, rs267607381, rs267607379 |
RCV004593975 RCV004593976 RCV004593982 RCV004593983 |
| Epidermolytic ichthyosis |
Likely pathogenic; Pathogenic |
rs1597822243, rs58075662 |
RCV003227577 RCV000015674 |
| Ichthyosis and erythrokeratoderma |
Pathogenic |
rs58075662 |
RCV006275856 |
| Ichthyosis, annular epidermolytic 1 |
Pathogenic |
rs62651994 |
RCV004595904 |
| KRT10-related disorder |
Pathogenic |
rs58075662, rs267607384 |
RCV004755736 RCV006270338 |
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate |
32861330 |
| Acanthoma |
Associate |
32045015 |
| Acanthosis Nigricans |
Associate |
29784039 |
| Adenocarcinoma |
Associate |
9930073 |
| Alopecia |
Associate |
34851365 |
| Arthritis Psoriatic |
Associate |
29784039 |
| Asthma |
Associate |
37146352 |
| Basal Cell Nevus Syndrome |
Associate |
11558869 |
| Blister |
Associate |
26176760, 30859768 |
| Breast Neoplasms |
Associate |
32618487 |
| Carcinogenesis |
Associate |
18986660 |
| Carcinoma Basal Cell |
Associate |
16415791 |
| Carcinoma Non Small Cell Lung |
Associate |
23613495 |
| Carcinoma Squamous Cell |
Associate |
10343611, 1379783, 36029589, 9930073 |
| Carcinoma Squamous Cell |
Stimulate |
16415791 |
| Cholesteatoma |
Associate |
30021014 |
| Cholesteatoma |
Inhibit |
8703383 |
| Cholesteatoma Congenital |
Associate |
26335306 |
| Diabetes Mellitus |
Inhibit |
28403359 |
| Disease |
Associate |
23613495 |
| Edema |
Associate |
7510721 |
| Epidermal Cyst |
Associate |
2458356 |
| Epidermal Nevus |
Associate |
17255957, 7526210 |
| Epidermolysis Bullosa Simplex |
Associate |
1721080 |
| Epithelial Squamous Dysplasia Keratinizing Desquamative of Urinary Tract |
Associate |
7529318 |
| Erythema |
Associate |
30859768 |
| Genetic Diseases Inborn |
Associate |
25774499 |
| Glioblastoma |
Associate |
22952576 |
| Glomerulonephritis IGA |
Associate |
36793719 |
| Glutamate Monosodium Sensitivity |
Associate |
29520099 |
| Hearing Loss |
Associate |
34851365 |
| Heat Stress Disorders |
Associate |
29520099 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
32618487 |
| HID Syndrome |
Associate |
29689068 |
| Hyperkeratosis Epidermolytic |
Associate |
10201536, 11558869, 14594577, 14708600, 17255957, 18219278, 22133519, 22504942, 22930352, 24346896, 26176760, 26581228, 27617465, 28121638, 29689068, 30859768, 32045015, 33081034, 33818988, 34387055, 7507150, 7507151, 7507152, 7508181, 7512983, 7513736, 7526210, 7532198, 7678607, 8077693, 8648165, 9036939, 9347802, 9833037, 9856845 View all (20 more) |
| Ichthyosis |
Associate |
11558869, 20798280, 26581228, 34387055, 34851365 |
| Ichthyosis Cyclic with Epidermolytic Hyperkeratosis |
Associate |
14594577, 9036939, 9856845 |
| Ichthyosis hystrix Curth Macklin type |
Associate |
29689068 |
| Infections |
Associate |
22090118 |
| Keratoderma Palmoplantar |
Associate |
11558869, 14708600 |
| Leukemia Myeloid Acute |
Associate |
2461420 |
| Lichen Planus Oral |
Associate |
19776502 |
| Lupus Erythematosus Systemic |
Associate |
19089296 |
| Melanoma |
Inhibit |
25560632, 36123693 |
| Mouth Diseases |
Associate |
19776502 |
| Myasthenia Gravis |
Associate |
35802752 |
| Neoplasms |
Inhibit |
15140235 |
| Neoplasms |
Associate |
22073364, 32618487, 34360875, 36029589, 7678716 |
| Neoplasms Glandular and Epithelial |
Associate |
23264211 |
| Nevus |
Associate |
33081034, 34199056, 7526210 |
| Nevus Sebaceous of Jadassohn |
Associate |
35853659 |
| Odontogenic Cysts |
Associate |
26666851 |
| Pachyonychia Congenita |
Associate |
7529318 |
| Peeling skin syndrome acral type |
Associate |
22622422 |
| Periapical Diseases |
Associate |
23264211 |
| Periodontitis |
Associate |
36793719 |
| Pre Eclampsia |
Stimulate |
24296084 |
| Prostatic Neoplasms |
Associate |
34360875 |
| Psoriasis |
Associate |
29784039 |
| Retinal Dysplasia |
Inhibit |
9420282 |
| Sarcoma Kaposi |
Associate |
33276600 |
| Skin Diseases |
Associate |
29563344, 30859768 |
| Skin Diseases Genetic |
Associate |
8648165 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
27584795 |
| Thymoma |
Associate |
35802752 |
| Trichilemmal Cyst 1 |
Associate |
17091763 |
| Tubular Sweat Gland Adenomas |
Associate |
16222893 |
| Ulcer |
Inhibit |
18373736 |
| Uterine Cervical Neoplasms |
Associate |
10343611, 18986660 |
| Warts |
Associate |
10195031 |
|