| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Brooke-Spiegler syndrome |
Likely pathogenic; Pathogenic |
rs2506862962, rs2506903755, rs121908388, rs1597088499, rs2506802256, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040872, rs886040874, rs886040875, rs886040884, rs886040885, rs886040887, rs886040888 View all (1 more) |
RCV002462824 RCV002466819 RCV005234779 RCV000005567 RCV000005568 RCV000005572 RCV000005575 RCV000005577 RCV000257938 RCV001814137 RCV000257987 RCV000257947 RCV000257955 RCV000257982 RCV003988838 RCV002466483 |
| CYLD-related disorder |
Pathogenic; Likely pathogenic |
rs2506820899, rs1971543762 |
RCV003408406 RCV003922067 |
| Familial cylindromatosis |
Pathogenic; Likely pathogenic |
rs1597091470, rs121908388, rs1597088499, rs121908390, rs1596971597, rs2151015263, rs886040868, rs886040869, rs886040871, rs886040872, rs764952788, rs886040873, rs886040876, rs886040879, rs886040882, rs886040886, rs886040887, rs886040888, rs886040890, rs886040891, rs886040892, rs886040893, rs886040894, rs2506716542, rs1971445448 View all (10 more) |
RCV000005564 RCV000005565 RCV000005566 RCV000005573 RCV000005576 RCV000005578 RCV000257953 RCV000257981 RCV000257964 RCV000257976 RCV000257934 RCV000257960 RCV000257967 RCV000257974 RCV000257975 RCV000258001 RCV000257950 RCV000257977 RCV000257951 RCV000257985 RCV000257939 RCV000257968 RCV000257992 RCV003994641 RCV001257399 |
| Familial multiple trichoepitheliomata |
Pathogenic; Likely pathogenic |
rs1597085967, rs1597058708, rs121908389, rs121908390 |
RCV000005569 RCV000005570 RCV000005571 RCV000005574 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 |
Likely pathogenic; Pathogenic |
rs121908390, rs886040872, rs886040888, rs2506514993 |
RCV002496269 RCV005016661 RCV003469208 RCV003468614 |
| Multiple monogenic benign skin tumours |
Likely pathogenic; Pathogenic |
rs121908390 |
RCV006268069 |
| Multiple myeloma |
Likely pathogenic |
rs1597073318 |
RCV000984131 |
| SLC35A2-congenital disorder of glycosylation |
Pathogenic |
rs886040888 |
RCV005861098 |
| Trichoepithelioma, multiple familial, 1 |
Likely pathogenic; Pathogenic |
rs121908390, rs886040872, rs886040887 |
RCV002496269 RCV001814137 RCV003988838 |
|
| Disease Name |
Relationship Type |
References |
| Acrospiroma |
Associate |
31101826 |
| Adenocarcinoma |
Associate |
29463883 |
| Adenocarcinoma of Lung |
Associate |
29286108, 31860169 |
| Alzheimer Disease |
Associate |
36000313 |
| Amyotrophic Lateral Sclerosis |
Associate |
36000313 |
| Anus Neoplasms |
Associate |
32461623 |
| Autoimmune Diseases |
Associate |
26276688 |
| Bisphosphonate Associated Osteonecrosis of the Jaw |
Associate |
32705175 |
| Carcinogenesis |
Associate |
12917690, 16900776, 17495026, 26276688 |
| Carcinoma Adenoid Cystic |
Associate |
15854031, 16627981, 16900776, 17495026, 21552290, 23778141, 25951887, 26660106, 26969893, 29569226, 31101826, 32461623, 32892208 |
| Carcinoma Basal Cell |
Associate |
32461623, 36309102 |
| Carcinoma Endometrioid |
Inhibit |
35779906 |
| Carcinoma Hepatocellular |
Associate |
16627981, 27310251, 27955658, 32184568, 36720665 |
| Carcinoma Hepatocellular |
Inhibit |
25329885 |
| Carcinoma Non Small Cell Lung |
Associate |
33378022 |
| Carcinoma Skin Appendage |
Associate |
12190880, 15496400, 16900776, 17495026, 17851586, 31260673 |
| Carcinoma Squamous Cell |
Associate |
25910754 |
| Caroli disease isolated |
Associate |
27955658 |
| Cerebrospinal Fluid Otorrhea |
Associate |
33031450 |
| Cholesteatoma |
Associate |
20414373, 33031450 |
| Chromosome Deletion |
Associate |
31085270 |
| Colonic Neoplasms |
Associate |
39333335 |
| Colorectal Neoplasms |
Associate |
28675510, 32364424 |
| Craniodiaphyseal Dysplasia Autosomal Dominant |
Associate |
27955658 |
| Crohn Disease |
Associate |
23071489 |
| Deafness |
Associate |
19917957 |
| Death |
Associate |
35779906 |
| Dendritic Cell Sarcoma Follicular |
Associate |
26564005, 28621320 |
| Endometrial Neoplasms |
Associate |
35779906 |
| Familial cylindromatosis |
Associate |
12190880, 12917690, 14632188, 15086550, 15496400, 15854031, 16900776, 17851586, 18313383, 19917957, 20972631, 25501176, 25565632, 26329847, 26660106, 26969893, 29962004, 31260673, 31624251, 9783709 View all (5 more) |
| Familial cylindromatosis |
Inhibit |
16301742, 18222923 |
| Focal Epithelial Hyperplasia |
Associate |
20414373 |
| Frontotemporal Dementia |
Associate |
36000313 |
| Genetic Diseases Inborn |
Associate |
16713556 |
| Glaucoma |
Associate |
21408173 |
| Glioblastoma |
Associate |
26017671, 28901464 |
| Head and Neck Neoplasms |
Associate |
28270164, 28295216 |
| Hepatitis C |
Inhibit |
15133472 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
25951887 |
| HIV Infections |
Associate |
24760882 |
| Hodgkin Disease |
Associate |
17606441 |
| Inflammation |
Inhibit |
29166644, 33031450, 35025147, 37549179 |
| Inflammation |
Associate |
34092220 |
| LEOPARD Syndrome |
Associate |
19917957, 29955768, 31624251 |
| Leukemia |
Associate |
37549179 |
| Leukemia Lymphoma Adult T Cell |
Associate |
32024820 |
| Leukemia Myeloid Acute |
Associate |
37549179 |
| Leukemia Myelomonocytic Acute |
Inhibit |
37549179 |
| Leukemia Plasma Cell |
Associate |
35770320 |
| Liver Cirrhosis |
Associate |
36720665 |
| Lupus Nephritis |
Associate |
29166644 |
| Lymphoma |
Associate |
36922488 |
| Lymphoma B Cell |
Associate |
36922488, 6407543 |
| Lymphoma Large B Cell Diffuse |
Inhibit |
36922488 |
| Lymphoma Mantle Cell |
Inhibit |
36922488 |
| Lymphoma Non Hodgkin |
Associate |
26660106 |
| Lymphoma T Cell |
Associate |
22362744 |
| Melanoma |
Associate |
32252875, 34497368 |
| Multiple Myeloma |
Associate |
17609426, 17692804, 17692805, 34269120 |
| Multiple Pterygium Syndrome Autosomal Dominant |
Associate |
16900776 |
| Nasopharyngeal Carcinoma |
Associate |
28098136, 35131382, 35562651, 38287022 |
| Neoplasm Metastasis |
Associate |
26564005 |
| Neoplasms |
Inhibit |
12190880, 15496400, 16627981, 16900776, 17495026, 17606441, 18222923, 18313383, 20414373, 24495516, 24760882, 25329885, 26969893, 28621320, 28900035, 31067453, 31260673, 31624251, 31635163, 31898971, 32252875, 32461623, 33031450, 33560588, 34203408, 34269120, 34497368, 35779906, 38246916, 38287022 View all (15 more) |
| Neoplasms |
Associate |
15133472, 16713556, 19917957, 21552290, 23778141, 24974848, 25565632, 26329847, 26660106, 28270164, 28537672, 28572092, 29463883, 29569226, 32892208, 35131382, 35634245, 9783709 View all (3 more) |
| Neoplasms Basal Cell |
Associate |
29463883 |
| Periodontitis |
Associate |
34092220 |
| Polycythemia Vera |
Inhibit |
35025147 |
| Polycythemia Vera |
Associate |
35025147 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
22362744 |
| Prostatic Neoplasms |
Inhibit |
38246916 |
| Prostatic Neoplasms Castration Resistant |
Associate |
32091413 |
| Psoriasis |
Associate |
19554025 |
| Renal Insufficiency Chronic |
Associate |
29166644 |
| Salivary Gland Neoplasms |
Associate |
16900776 |
| Sexual Dysfunction Physiological |
Associate |
19917957 |
| Skin Neoplasms |
Associate |
16713556, 25565632, 28270164, 31624251 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit |
26982322 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
31635163, 32892208, 35634245 |
| Stomach Neoplasms |
Associate |
24495516, 26711782, 28537672 |
| Stroke |
Associate |
32626985 |
| Thymoma |
Associate |
24974848, 34622229, 34867976 |
| Thyroid Cancer Papillary |
Associate |
25550803 |
| Triple Negative Breast Neoplasms |
Associate |
30269739 |
|