|
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 |
| 46, XY complete gonadal dysgenesis |
46,XY complete gonadal dysgenesis |
N/A |
N/A |
GenCC |
| 46, XY partial gonadal dysgenesis |
46,XY partial gonadal dysgenesis |
N/A |
N/A |
GenCC |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
Anophthalmia-microphthalmia syndrome |
N/A |
N/A |
ClinVar |
| Breast cancer |
Breast cancer (early onset), Breast cancer |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer (estrogen-receptor negative), breast cancer, Postmenopausal breast cancer |
N/A |
N/A |
GWAS, GenCC |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Endometriosis |
Endometriosis |
N/A |
N/A |
GWAS |
| hearing impairment |
Hearing impairment |
N/A |
N/A |
ClinVar |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 3 methylcrotonyl CoA carboxylase 1 deficiency |
Associate
|
26655088 |
| 46 XY female |
Associate
|
34112222, 36088066 |
| Adenocarcinoma |
Associate
|
28581676 |
| Allanson Pantzar McLeod syndrome |
Associate
|
33060765 |
| Amyotrophic Lateral Sclerosis |
Associate
|
31575382 |
| Androgen Insensitivity Syndrome |
Associate
|
32338288, 33060765 |
| Autoimmune Diseases |
Associate
|
29339359 |
| Breast Carcinoma In Situ |
Associate
|
24743323 |
| Breast Neoplasms |
Associate
|
17529967, 17997823, 18355772, 18437204, 18973230, 19028704, 19094228, 19656774, 19843670, 20605201, 21118973, 21194473, 21475998, 22452962, 22532573, 22722193, 22867275, 22910930, 23000897, 23544012, 23634849, 24218030, 24493630, 24743323, 24759887, 25529635, 26094658, 26458823, 26842910, 28027327, 28029147, 28178648, 28408616, 29339359, 29559730, 30305115, 30649385, 31575382, 32067679, 32366738, 32620845, 33126731, 33191115, 34888385, 35732329, 36709040, 37454130, 38523186, 40305907 View all (34 more) |
| Breast Neoplasms |
Inhibit
|
38003265 |
| Carcinoma Adenosquamous |
Associate
|
31958074 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
38523186 |
| Carcinoma Ovarian Epithelial |
Associate
|
32660222 |
| Carcinoma Renal Cell |
Stimulate
|
34331411 |
| Cataract |
Associate
|
25352737 |
| Choriocarcinoma |
Associate
|
30889489 |
| Colorectal Neoplasms |
Associate
|
29458332, 35230926, 37314251 |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
29458332 |
| Cytomegalovirus Infections |
Associate
|
23376463 |
| Disorder of Sex Development 46 XY |
Associate
|
28504475, 33060765, 34112222, 36088066, 36102299, 39285472 |
| Disorders of Sex Development |
Associate
|
28504475, 34112222 |
| Dwarfism Pituitary |
Associate
|
36102299 |
| Endometrial Neoplasms |
Associate
|
18785201 |
| Esophageal Neoplasms |
Associate
|
26019450 |
| Fibroadenoma |
Associate
|
33727697 |
| Gestational Trophoblastic Disease |
Associate
|
31998776 |
| Glaucoma Open Angle |
Associate
|
29452408 |
| Glioblastoma |
Associate
|
31318172 |
| Glioma |
Associate
|
31318172 |
| Gonadal Dysgenesis |
Associate
|
28504475, 36088066 |
| Gonadal Dysgenesis 46 XY |
Associate
|
28504475, 36088066, 40290305 |
| Hereditary Angioedema Type III |
Associate
|
29339359 |
| Hydatidiform Mole |
Associate
|
30889489 |
| Hypertrophy |
Associate
|
28504475 |
| Hypoxia |
Stimulate
|
27486656 |
| Infections |
Associate
|
23797008 |
| Inflammation |
Associate
|
26308008, 28858533 |
| Leukemia Myeloid Acute |
Associate
|
32811810 |
| Leukemia Promyelocytic Acute |
Associate
|
34404765 |
| Neoplasms |
Associate
|
19028704, 22722201, 23577780, 25529635, 28029147, 29339359, 29559730, 31318172, 32429412, 32591342, 32817551, 33149122, 34331411, 37145128, 37314251, 37454130 View all (1 more) |
| Neuroblastoma |
Associate
|
24253178, 32295184 |
| Pancreatic Neoplasms |
Associate
|
19843670, 35476515 |
| Penile Diseases |
Associate
|
36102299 |
| Prostate cancer familial |
Associate
|
18785201 |
| Recombinant chromosome 8 syndrome |
Associate
|
36709040 |
| Respiratory Distress Syndrome |
Associate
|
28858533 |
| Rhabdomyosarcoma |
Associate
|
23797008 |
| Simpson Golabi Behmel syndrome |
Associate
|
31739742 |
| Stomach Neoplasms |
Associate
|
24759887, 36510163 |
| Tertiary Lymphoid Structures |
Associate
|
17997823 |
| Thyroid Cancer Papillary |
Associate
|
35524422 |
| Triple Negative Breast Neoplasms |
Associate
|
36788078 |
|