|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Epidermolytic Ichthyosis |
epidermolytic ichthyosis, autosomal recessive epidermolytic ichthyosis |
N/A |
N/A |
GenCC |
| Hyperkeratosis |
epidermolytic hyperkeratosis 2B, autosomal recessive, epidermolytic hyperkeratosis 2A, autosomal dominant |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| 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 |
|