|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Brooke-Spiegler Syndrome |
brooke-spiegler syndrome |
rs886040870, rs886040884, rs121908389, rs886040885, rs121908390, rs886040888, rs886040874, rs121908388, rs1597052041, rs886040875, rs1597088499 |
N/A |
| Cylindromatosis |
familial cylindromatosis |
rs886040893, rs886040894, rs886040871, rs886040872, rs886040886, rs886040887, rs764952788, rs886040888, rs1597091470, rs121908390, rs886040873, rs121908388, rs1596971597, rs886040890, rs1597088499, rs2147483647, rs886040876, rs886040891, rs886040868, rs886040879, rs886040892, rs886040869, rs886040882 View all (8 more) |
N/A |
| Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 |
rs886040872, rs886040888 |
N/A |
| Multiple Trichoepithelioma |
familial multiple trichoepitheliomata |
rs1597058708, rs121908389, rs121908390, rs1597085967 |
N/A |
| Multiple myeloma |
multiple myeloma |
rs1597073318 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| 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 |
|