|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Acrodysostosis With Or Without Hormone Resistance |
acrodysostosis 1 with or without hormone resistance |
rs886041228, rs387906694, rs387906695, rs1555815121, rs1600486197, rs387906692 |
N/A |
| Atrial Myxoma |
familial atrial myxoma |
rs281864791 |
N/A |
| Carney Complex |
carney complex, type 1 |
rs387906692, rs1568702458, rs281864790, rs886041351, rs1568698487, rs281864785, rs141913727, rs1568698504, rs281864799, rs281864782, rs1085307672, rs1568701362, rs281864783, rs281864779, rs281864797, rs1555815121, rs2085693506, rs281864798, rs281864800, rs1555814100, rs281864792, rs1555813578, rs281864784, rs1555813217, rs281864801, rs727503379, rs1555814477, rs886041228, rs1555811753 View all (14 more) |
N/A |
| Pigmented Nodular Adrenocortical Disease |
Pigmented nodular adrenocortical disease, primary, 1 |
rs281864801 |
N/A |
| Adrenocortical tumor |
adrenocortical tumor, somatic |
rs587776774 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acrodysostosis |
Associate
|
21651393, 22464250, 22464252, 25075981, 26405036, 26763073, 27825928, 30006632, 31041856, 32783359 |
| Acromegaly |
Associate
|
19293268, 33939912, 36193716 |
| Acth Independent Macronodular Adrenal Hyperplasia |
Associate
|
32638579 |
| Adenocarcinoma |
Associate
|
35322195 |
| Adenoma |
Associate
|
15761655 |
| Adenoma Oxyphilic |
Associate
|
19265501 |
| Adrenal Cortex Diseases |
Associate
|
22259056 |
| Adrenal Cortex Neoplasms |
Associate
|
22112814, 22785148 |
| Adrenal Gland Diseases |
Associate
|
22112814, 22259056, 33849881 |
| Adrenal Gland Neoplasms |
Associate
|
32895490 |
| Adrenal Hyperplasia Congenital |
Associate
|
30442879 |
| Adrenocortical Adenoma |
Associate
|
27606678, 33564960 |
| Adrenocortical Carcinoma |
Associate
|
25268545, 27165744, 32287321, 33564960 |
| Allan Herndon Dudley syndrome |
Stimulate
|
25393625 |
| Aneuploidy |
Associate
|
18056771 |
| Atrial myxoma familial |
Associate
|
10974026, 16020889, 22341669, 30882689, 31874650, 33939912, 37452081 |
| Brachydactyly Type E |
Associate
|
29499646 |
| Carcinogenesis |
Associate
|
16041174, 19351815 |
| Carcinoma |
Associate
|
26429873, 35151345 |
| Carcinoma Acinar Cell |
Associate
|
21900385, 36549753 |
| Carcinoma Hepatocellular |
Associate
|
18445140 |
| Carcinoma Non Small Cell Lung |
Associate
|
34490727 |
| Carney Complex |
Associate
|
10974026, 15282353, 15286154, 15761655, 16041174, 16464939, 17280861, 18445140, 19219454, 19265501, 19293268, 19773399, 19915019, 20358582, 20606737, 21047926, 21880053, 21900385, 22112814, 22166941, 22205709, 22341669, 24122441, 24144965, 24382573, 24886234, 25268545, 25393625, 25890363, 26405036, 27535175, 27580546, 27825928, 28012237, 28513873, 28640241, 28973408, 29222914, 29561454, 30442879, 31117334, 32302974, 32457700, 33849881, 33939912, 34049890, 34689149, 35128829, 35732416, 36193716, 36573035, 37670105, 38492686, 38626285 View all (39 more) |
| Carney Complex |
Inhibit
|
12676898 |
| Carney Triad |
Associate
|
35151345 |
| Cerebral Hemorrhage |
Associate
|
31874650 |
| Cholangiocarcinoma |
Associate
|
23480756, 30056600 |
| Chondroma |
Associate
|
35151345 |
| Colorectal Neoplasms |
Associate
|
26630397 |
| Cushing Syndrome |
Associate
|
16464939, 19915019, 22112814, 23065993, 24248186, 26619967, 27580546, 28834963, 31996203, 32638579, 33939912, 35034934, 36193716 |
| Diabetes Mellitus Type 2 |
Associate
|
31869513 |
| Disease |
Associate
|
33849881 |
| Ear Diseases |
Associate
|
21880053 |
| Endocrine Gland Neoplasms |
Associate
|
12676898 |
| Endocrine System Diseases |
Associate
|
19293268 |
| Endometrial Neoplasms |
Associate
|
22706224 |
| Ermine phenotype |
Associate
|
35732416 |
| Fibroadenoma |
Associate
|
28513873 |
| Fibrolamellar hepatocellular carcinoma |
Associate
|
29222914 |
| Ganglioneuroma |
Associate
|
35151345 |
| Genetic Diseases Inborn |
Associate
|
16464939 |
| Glioma |
Associate
|
33885249 |
| Hallucinations |
Associate
|
22166941 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
28513873 |
| Hyperplasia |
Associate
|
15761655, 24248186 |
| Lentigo |
Associate
|
16020889, 19293268, 22112814 |
| Leukemia Promyelocytic Acute |
Associate
|
17712046 |
| Liver Diseases |
Associate
|
32302974 |
| Lymphangioleiomyomatosis |
Associate
|
37452081 |
| Melanoma |
Associate
|
28186096, 35552752 |
| Meningioma |
Associate
|
27548314 |
| Metaphyseal acroscyphodysplasia |
Associate
|
30006632 |
| Multiple Endocrine Neoplasia |
Associate
|
22461635 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate
|
33858404 |
| Myocardial Infarction |
Associate
|
36238493 |
| Myxoma |
Associate
|
10974026, 16041174, 19219454, 19293268, 25890363, 28973408, 30882689, 31874650, 32302974, 35034934, 38492686 |
| Nasopharyngeal Carcinoma |
Associate
|
18570662 |
| Neointima |
Associate
|
18056771 |
| Neoplasm Metastasis |
Associate
|
31874650 |
| Neoplasms |
Inhibit
|
12676898, 18570662, 21900385, 28159925 |
| Neoplasms |
Associate
|
15761655, 17712046, 19293268, 20358582, 25268545, 26429873, 30056600, 33148256, 33849881, 33939912, 35319526, 35438749, 36549753, 36943460, 37452081 |
| Neoplasms Adipose Tissue |
Associate
|
24248186 |
| Neoplastic Syndromes Hereditary |
Associate
|
26763073 |
| Neurilemmoma |
Associate
|
19293268, 28012237 |
| Neuroectodermal Tumor Melanotic |
Associate
|
28973408 |
| Nevus Blue |
Associate
|
35319526 |
| Nevus Epithelioid and Spindle Cell |
Associate
|
35319526 |
| Nonsyndromic Deafness |
Stimulate
|
25393625 |
| Osseous Heteroplasia Progressive |
Associate
|
31041856 |
| Ovarian Neoplasms |
Associate
|
36943460 |
| Panniculitis |
Associate
|
36549753 |
| Parathyroid Diseases |
Associate
|
31041856 |
| Pigmentation Disorders |
Associate
|
25890363, 33939912, 35319526 |
| Pigmented Nodular Adrenocortical Disease Primary 1 |
Associate
|
16464939, 17280861, 18419788, 19293268, 19915019, 20351491, 22112814, 22259056, 22785148, 23065993, 24144965, 24248186, 24382573, 27580546, 27699247, 28834963, 30442879, 31074783, 32638579, 35034934, 35732416 View all (6 more) |
| Pigmented Nodular Adrenocortical Disease Primary 2 |
Associate
|
28973408, 31996203 |
| Pituitary Diseases |
Associate
|
33849881, 33939912 |
| Pituitary Neoplasms |
Associate
|
15761655 |
| Pseudohypoparathyroidism |
Associate
|
21651393, 26763073, 29499646, 31041856 |
| Pseudopseudohypoparathyroidism |
Associate
|
31041856 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
34588774 |
| Respiratory Distress Syndrome |
Associate
|
35151345 |
| Skin Diseases |
Associate
|
19293268 |
| Spina Bifida Occulta |
Associate
|
31041856 |
| Stroke |
Associate
|
22341669 |
| Thymus Neoplasms |
Associate
|
19265501 |
| Thyroid Carcinoma Anaplastic |
Associate
|
25393625 |
| Thyroid Hormone Resistance Syndrome |
Associate
|
21651393, 25075981, 32783359 |
| Thyroid Neoplasms |
Associate
|
19293268 |
| Thyroid Neoplasms |
Stimulate
|
25393625 |
| Thyroid Nodule |
Associate
|
19265501 |
|