|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
35411083 |
CBGDA |
| Weaver Syndrome |
weaver syndrome, Weaver syndrome |
N/A |
N/A |
ClinVar, GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenosarcoma |
Associate
|
33838572 |
| Anemia Aplastic |
Associate
|
33166403 |
| Brain Neoplasms |
Associate
|
20920292 |
| Breast Neoplasms |
Associate
|
16766534, 24434785 |
| Carcinogenesis |
Associate
|
23735840, 34667274, 35649353 |
| Carcinoma Hepatocellular |
Associate
|
18753137 |
| Carcinoma Merkel Cell |
Associate
|
34667274 |
| Carcinoma Non Small Cell Lung |
Associate
|
24633887, 25833694 |
| Cardiomyopathies |
Associate
|
32620106 |
| Cholangiocarcinoma |
Associate
|
24089088 |
| Colonic Neoplasms |
Stimulate
|
11564866 |
| Colorectal Neoplasms |
Associate
|
15231737, 23001792, 25243792, 26567139, 30791232 |
| Craniosynostoses |
Associate
|
36982425 |
| Depressive Disorder |
Associate
|
28418861 |
| Endometrial Stromal Tumors |
Associate
|
11371647, 18077430, 35649353, 36731460 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
32699215 |
| GATA2 Deficiency |
Associate
|
26337274 |
| Heart Failure |
Associate
|
32620106 |
| Hemoglobinuria Paroxysmal |
Associate
|
25244093 |
| Huntington Disease |
Associate
|
26636336, 33054835 |
| Hypoxia |
Stimulate
|
27303043 |
| Hypoxia |
Inhibit
|
37967992 |
| Infratentorial Neoplasms |
Associate
|
29909548 |
| Iridogoniodysgenesis and skeletal anomalies |
Associate
|
30019515 |
| Leukemia |
Associate
|
17560333, 22190018 |
| Leukemia Large Granular Lymphocytic |
Associate
|
37142644 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
30038380 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
26017281, 34784413 |
| Leukemia Myeloid |
Associate
|
22053108 |
| Leukemia Myeloid Acute |
Associate
|
22371884, 33166403, 35747989 |
| Leukemia Myeloid Chronic Phase |
Associate
|
26017281 |
| Leukemia Neutrophilic Chronic |
Associate
|
33166403 |
| Lung Diseases |
Associate
|
19536353 |
| Lung Neoplasms |
Associate
|
20558579 |
| Lymphatic Metastasis |
Stimulate
|
24633887 |
| Lymphoma Follicular |
Associate
|
19530241 |
| Lymphoma Mantle Cell |
Associate
|
20558579 |
| Malignant mesenchymal tumor |
Associate
|
32889887, 33986460 |
| MASS syndrome |
Associate
|
31615558 |
| Melanoma |
Associate
|
20558579 |
| Michelin tire baby syndrome |
Associate
|
30019515 |
| Mitochondrial Diseases |
Associate
|
30404791 |
| Myelodysplastic Syndromes |
Associate
|
22053108, 33166403 |
| Myeloproliferative Disorders |
Associate
|
26290261 |
| Myocardial Infarction |
Stimulate
|
37967992 |
| Neoplasm Metastasis |
Stimulate
|
24633887 |
| Neoplasms |
Associate
|
18077430, 18753137, 20558579, 22053108, 22190018, 23101500, 24633887, 25244093, 26429873, 26837964, 29482987, 31615558, 32317704, 32666581, 32889887, 34482403, 34667274, 34928964, 35852856, 37145209, 40500734 View all (6 more) |
| Neuroblastoma |
Associate
|
29202477 |
| Neurofibroma |
Associate
|
37145209 |
| Neurofibroma Plexiform |
Stimulate
|
20844836 |
| Neurofibromatosis 1 |
Associate
|
38008284 |
| Neurofibrosarcoma |
Associate
|
25240281, 25305755, 26585554, 26645727, 26990975, 28752843, 28762137, 29482987, 30291346, 32666581, 35852856, 37246765 |
| Neutropenia Severe Congenital Autosomal Recessive 3 |
Associate
|
33166403 |
| Obesity |
Associate
|
32555314 |
| Perivascular Epithelioid Cell Neoplasms |
Associate
|
34561551 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
22237106, 30404791 |
| Primary Myelofibrosis |
Associate
|
22053108 |
| Prostatic Neoplasms |
Associate
|
15817459 |
| Renal Insufficiency |
Associate
|
33960101 |
| Rhabdomyosarcoma |
Associate
|
30120321 |
| Sarcoma |
Associate
|
18077430, 29415665, 34561551 |
| Sarcoma Endometrial Stromal |
Associate
|
22982899, 26429873, 31615558, 33838572, 34561551, 34928964, 35649353, 35710139, 36731460, 37406360 |
| Simpson Golabi Behmel syndrome |
Associate
|
30019515 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
24076275, 31938073 |
| Stomach Diseases |
Associate
|
23735840 |
| Stomach Neoplasms |
Associate
|
23735840, 26837964 |
| Triple Negative Breast Neoplasms |
Associate
|
30295334 |
| Uniparental Disomy |
Associate
|
22053108 |
| Urinary Bladder Neoplasms |
Associate
|
18984978 |
| Uterine Cervical Neoplasms |
Associate
|
18753137 |
| Uterine Neoplasms |
Associate
|
31615558 |
| Weaver Like Syndrome |
Associate
|
30019515 |
| Weaver syndrome |
Associate
|
30019515 |
| Wounds and Injuries |
Inhibit
|
37967992 |
|