|
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 |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Endometriosis |
Endometriosis |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia complaints, Insomnia complaints (continuous), Insomnia complaints (dichotomous), Insomnia (PheCode 327.4), Insomnia, Insomnia (standard GWA) |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
26035298, 33979320 |
| Adrenocortical Carcinoma |
Associate
|
33776902 |
| Breast Neoplasms |
Associate
|
19776672 |
| Carcinoma Squamous Cell |
Associate
|
22143938 |
| Cardiomyopathy Hypertrophic |
Associate
|
33757590 |
| Cardiovascular Diseases |
Associate
|
28425489 |
| Colonic Neoplasms |
Associate
|
24244575 |
| Colorectal Neoplasms |
Associate
|
24244575 |
| Emanuel syndrome |
Associate
|
35981137 |
| Esophageal Squamous Cell Carcinoma |
Inhibit
|
26314854 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
28462489, 31090196, 32819319, 40211274 |
| Glioblastoma |
Associate
|
38563293 |
| Hodgkin Disease |
Stimulate
|
33539429 |
| Hypoxia |
Stimulate
|
38563293 |
| Kidney Failure Chronic |
Associate
|
21572129 |
| Kidney Neoplasms |
Associate
|
33574497 |
| Leukemia |
Associate
|
20600580, 22185299, 23818607, 24858818, 27317766, 31855575, 33924850, 36455589, 38048593 |
| Leukemia Biphenotypic Acute |
Associate
|
27317766 |
| Leukemia Biphenotypic Acute |
Stimulate
|
35981137 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
28572861 |
| Leukemia Myeloid Acute |
Associate
|
10996203, 22096027, 26397705, 26434589, 28830460, 31210592, 32764680, 34502319, 35212611, 35709529, 36455613, 38048593 |
| Lymphatic Metastasis |
Associate
|
26314854 |
| Multiple Sclerosis |
Associate
|
31484947 |
| Neoplasm Metastasis |
Associate
|
26314854 |
| Neoplasms |
Associate
|
19776672, 26314854, 28462489, 29716922, 30496486, 31090196, 32819319, 40211274 |
| Neoplasms |
Inhibit
|
22723371, 24244575 |
| Neuroblastoma |
Associate
|
20018718 |
| Nocturnal Myoclonus Syndrome |
Associate
|
25142570, 26498236, 26703954 |
| Ovarian Neoplasms |
Associate
|
37674251 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
36233173 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
22185299 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
12358913, 32103106 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
12637319 |
| Prostatic Neoplasms |
Inhibit
|
22723371 |
| Prostatic Neoplasms |
Associate
|
29716922, 32540218, 32681068 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
34012494 |
| Rectal Neoplasms |
Associate
|
34613665 |
| Restless Legs Syndrome |
Associate
|
19126776, 19181647, 19279021, 21572129, 21925394, 25142570, 25817513, 26498236, 28425489, 28604731, 30111810, 31725784, 34888668 |
| Rhabdomyosarcoma |
Associate
|
30720533, 33574497 |
| Sarcoma |
Associate
|
30179902, 33574497 |
| Sarcoma Ewing |
Associate
|
30496486 |
| Sarcoma Small Cell |
Associate
|
30179902 |
| Sleep Initiation and Maintenance Disorders |
Associate
|
27992416, 28604731, 34170227, 34888668 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
25186767 |
| Tertiary Lymphoid Structures |
Associate
|
26314854 |
| Triple Negative Breast Neoplasms |
Associate
|
19776672 |
|