| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adams-Oliver syndrome 1 |
Adams-Oliver Syndrome |
BEFREE |
23554019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
10416594, 31585122, 9850059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of colon |
Adenocarcinoma Of Colon |
BEFREE |
20500843, 30959852 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
19509225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal Gland Pheochromocytoma |
Adrenal Gland Pheochromocytoma |
BEFREE |
26586478 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
GWASDB_DG |
23455636 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
GWASCAT_DG |
23455636 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
25867331, 28343170 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism Oculocutaneous |
Oculocutaneous albinism |
Pubtator |
30219046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplasia |
Anaplasia |
BEFREE |
28622298, 28781950 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Androgenetic Alopecia |
Androgenetic Alopecia |
BEFREE |
28324846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneurysm |
Aneurysm |
Pubtator |
16928994, 37864304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneurysm, Dissecting |
Aortic Aneurysm |
BEFREE |
21270064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneurysm, Dissecting |
Aortic Aneurysm |
CTD_human_DG |
22772368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneurysm, Dissecting |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
22699812, 27248167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm |
Aortic aneurysm |
Pubtator |
18781618, 40243722 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Aortic Aneurysm |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Aortic Aneurysm Abdominal |
Aortic aneurysm |
Pubtator |
19672284, 26027897 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm Thoracic |
Thoracic aortic aneurysm |
Pubtator |
19672284, 26017485 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
BEFREE |
18550062, 19434696, 19672284, 21855067, 21978186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Diseases |
Aortic Diseases |
BEFREE |
27879313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Diseases |
Aortic disease |
Pubtator |
27879313, 32062130, 36599937 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Dissection |
Aortic dissection |
Pubtator |
20648054, 21815248, 28847661, 31475485, 31915033, 35078481, 40243722 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnodactyly |
Arachnodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnodactyly |
Arachnodactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ARTERIAL TORTUOSITY SYNDROME |
Arterial Tortuosity Syndrome |
BEFREE |
16928994, 26398550, 27879313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ARTERIAL TORTUOSITY SYNDROME |
Arterial Tortuosity Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriovenous Malformations |
Arteriovenous malformations |
Pubtator |
33789563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
17317656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
Pubtator |
17317656 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
17594488, 20628268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
23884466 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Asthma |
Asthma |
Pubtator |
23884466 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Astrocytoma |
Astrocytoma |
Pubtator |
30987013 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
BEFREE |
28639003, 31539152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
31539152 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-CELL MALIGNANCY, LOW-GRADE |
Lymphocytic Leukemia |
BEFREE |
15041079 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Cell Nevus Syndrome |
Basal Cell Neoplasm |
BEFREE |
8688329, 8895761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behcet Syndrome |
Behcet Syndrome |
BEFREE |
18925687, 22935165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behcet Syndrome |
Behcet disease |
Pubtator |
18925687 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
BEFREE |
18721526, 28659821 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Tract Neoplasms |
Biliary tract neoplasms |
Pubtator |
37341068 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
12947057, 19004027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bohring syndrome |
Bohring syndrome |
Pubtator |
27234654 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Cancer, Familial |
Breast Cancer |
BEFREE |
17848956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
10416594, 15833881, 16204663, 16428477, 17072348, 17848193, 17848956, 19390964, 21056993, 21461994, 21829601, 26165686, 26462028, 26583432, 26616150, 31257133 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17848193, 17848956, 18625725, 20332227, 21527583, 21829601, 22260435, 23022998, 23349840, 24658161, 26165686, 26703884, 28059167, 30987013, 33626035, 34093853, 35381768, 35484112 View all (3 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
11408925, 15382067, 9269901, 9809982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
8688329 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Endometrioid |
Endometrioid carcinoma |
Pubtator |
27533245 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26648552, 28230858, 28594404, 29515105, 30943320, 32324847, 33684566, 36901700, 37044053, 39256453, 7639583 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
12947057, 19004027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
17607123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
26091707, 27533245 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
25791160, 26588899 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
27166254, 31339433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
21819702 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Basal Cell |
Carcinoma |
BEFREE |
11601325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
26647384, 29751820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinosarcoma |
Carcinoma |
Pubtator |
25918253 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinosarcoma |
Carcinosarcoma |
BEFREE |
30659312 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
31169351 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
12812985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
31915033 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carpal Tunnel Syndrome |
Carpal Tunnel Syndrome |
BEFREE |
28294324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
29432795 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
15797633, 31435875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervical Intraepithelial Neoplasia |
Cervical Intraepithelial Neoplasia |
BEFREE |
15797633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
15797633, 31435875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
19229971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
15041079 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
BEFREE |
19586667 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
15731757 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
17890272, 19509225, 20705955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
LHGDN |
17890272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
19538729 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
12947057, 15860866, 16204663, 17507611, 17575241, 17613544, 18703712, 18778720, 19401691, 19509225, 19538729, 19930569, 19998449, 20368424, 20500843, 20705955, 21224855, 21811255, 21858550, 22292045, 24981199, 27234654, 29467907, 29971498, 30979739 View all (10 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
CTD_human_DG |
18703712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
16204663 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal Neoplasms |
LHGDN |
17575241, 18703712, 18778720, 19036501 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
17890272, 18703712, 18778720, 19401691, 19509225, 19538729, 20500843, 20705955, 21068203, 21811255, 22278155, 22292045, 24981199, 26714817, 27234654, 27776350, 29986714, 36499586, 36791912, 37044020, 37443102 View all (6 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal Neoplasms |
CTD_human_DG |
18703712 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
19930569 |
Stimulate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital arteriovenous malformation |
Congenital Arteriovenous Malformation |
BEFREE |
18283546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
18721526 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective Tissue Disease |
BEFREE |
17487218, 18377530, 21270064, 25116393, 28847661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective tissue disease |
Pubtator |
30675029 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
27166254, 28969055, 29662646, 31339433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Dissection Spontaneous |
Spontaneous coronary artery dissection |
Pubtator |
33866193, 35092149 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cutaneous Mastocytosis |
Cutaneous mastocytosis |
BEFREE |
26703884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis marmorata |
Cutis marmorata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
17594488, 19494318, 24034904, 28939526, 30078186, 30431382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis Atopic |
Atopic dermatitis |
Pubtator |
29498756 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Descending aortic dissection |
Descending aortic dissection |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Gestational |
Gestational diabetes |
Pubtator |
34930438 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
21478266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Foot |
Diabetic Foot |
LHGDN |
12060054 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
17319955 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
17319955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
LHGDN |
17319955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
31797450 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dissection Ascending Aorta |
Dissection of aorta |
Pubtator |
34346740 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dissection of aorta |
Aortic dissection |
CTD_human_DG |
22772368 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dissection of aorta |
Aortic dissection |
BEFREE |
27879313 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dissection of aorta |
Aortic dissection |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Duane Retraction Syndrome |
Duane retraction syndrome |
Pubtator |
19344999 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyspnea, Paroxysmal |
Dyspnea, Paroxysmal |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
Pubtator |
23884466 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
BEFREE |
24333532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ehlers-Danlos Syndrome |
Ehlers-Danlos Syndrome |
BEFREE |
16928994, 20648054 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 |
Classical-Like Ehlers-Danlos Syndrome |
CLINVAR_DG |
30675029 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| End Stage Liver Disease |
End Stage Liver Disease |
BEFREE |
29061957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial adenocarcinoma |
Endometrial Adenocarcinoma |
BEFREE |
30655341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
27171242, 28657664 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
27171242, 36791912 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
27171242 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Stromal Sarcoma |
Endometrial Stromal Sarcoma |
BEFREE |
22223660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
28277133, 32635855 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
28345488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
26647384, 29751820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
11910473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
11910473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exotropia |
Exotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial mitral valve prolapse |
Mitral Valve Prolapse |
BEFREE |
24243761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Primary Pulmonary Hypertension |
Pulmonary hypertension |
Pubtator |
25644172, 36007983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial thoracic aortic aneurysm and aortic dissection |
Thoracic Aortic Aneurysm And Aortic Dissection |
CLINVAR_DG |
15731757, 16596670, 16791849, 16928994, 18455604, 18781618, 19542084, 21267002, 21358634, 22113417, 22414221, 23884466, 24793577, 25110237, 25521989, 25944730, 27611364, 30675029 View all (3 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Familial thoracic aortic aneurysm and aortic dissection |
Thoracic Aortic Aneurysm And Aortic Dissection |
CLINGEN_DG |
16791849, 18781618, 19542084, 22414221, 24355923, 26188975, 27146836, 27739498 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Familial thoracic aortic aneurysm and aortic dissection |
Thoracic Aortic Aneurysm And Aortic Dissection |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Familial thoracic aortic aneurysm and aortic dissection |
Thoracic Aortic Aneurysm And Aortic Dissection |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Fanconi Syndrome |
Fanconi syndrome |
Pubtator |
34110636 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
15723089, 24263861, 25502482, 30562760, 31171625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
CTD_human_DG |
28560358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Diseases |
Gastrointestinal disease |
Pubtator |
23884466 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Giant Cell Arteritis |
Giant Cell Arteritis |
BEFREE |
21785915, 22722999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
19098325 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioblastoma |
Glioblastoma |
BEFREE |
18711401, 31008529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
25165192 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
18711401, 31008529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
33494271, 37439825 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulonephritis |
Glomerulonephritis |
Pubtator |
28815607 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis (disorder) |
Glomerulosclerosis |
BEFREE |
28815607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| granulosa cell tumor |
Granulosa Cell Tumor |
BEFREE |
29788434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
28815787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
17890272 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
25273091 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
15731757 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
32443848, 35078481 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
32528555 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
12947057 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis C |
Hepatitis c |
Pubtator |
29061957 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis C Chronic |
Hepatitis c |
Pubtator |
25502482, 29061957 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
15385056 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
19930569 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Malignant Neoplasm |
Hereditary cancer |
BEFREE |
17848956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory Autonomic Neuropathy, Type 1 |
Hereditary sensory and autonomic neuropathy |
BEFREE |
9722951 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
40325597 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyper-Immunoglobulin E Syndrome, Autosomal Dominant |
STAT3 Deficiency |
BEFREE |
24333532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
LHGDN |
18097622, 19116361 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy |
Hypertrophy |
Pubtator |
35406794 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
BEFREE |
28894026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
Pubtator |
28894026 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
22705563, 26090865, 31169351, 31339433, 32528555 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxic-Ischemic Encephalopathy |
Hypoxic-Ischemic Encephalopathy |
BEFREE |
28628913 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
31734320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
Pubtator |
11713352 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
30776489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
15731757 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
19542084 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial aneurysm |
Pubtator |
15731757 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial Aneurysm |
BEFREE |
21978186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kashin-Beck Disease |
Kashin-Beck Disease |
BEFREE |
29514696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leprosy |
Leprosy |
BEFREE |
21917900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
40184725 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
24855276 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Linear atrophy |
Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lip and Oral Cavity Carcinoma |
Lip and Oral Cavity Carcinoma |
BEFREE |
31651066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
10219856, 15775675, 25820415, 29515105, 30115383, 30335615, 30836988, 30943320, 30963691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
CTD_human_DG |
28560358 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Loeys-Dietz Aortic Aneurysm Syndrome |
Loeys-Dietz Syndrome |
ORPHANET_DG |
15731757, 16928994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Loeys-Dietz Aortic Aneurysm Syndrome |
Loeys-Dietz Syndrome |
BEFREE |
16596670, 16791849, 16799921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Loeys-Dietz Aortic Aneurysm Syndrome |
Loeys-Dietz Syndrome |
CTD_human_DG |
20358619, 22772368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Loeys-Dietz Syndrome |
Loeys-Dietz Syndrome |
CLINGEN_DG |
15731757, 16928994, 19542084, 19883511, 24355923, 8242743 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz Syndrome |
Loeys-Dietz Syndrome |
ORPHANET_DG |
15731757, 16928994 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz syndrome |
Loeys-Dietz Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz Syndrome |
Loeys-Dietz Syndrome |
CLINVAR_DG |
16791849, 16799921, 16928994, 18455604, 18703712, 18781618, 19542084, 21267002, 21358634, 22113417, 25644172, 26848186, 26877057, 27879313 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz Syndrome |
Loeys-Dietz Syndrome |
BEFREE |
16799921, 17061023, 18377530, 18852674, 19159394, 19542084, 19883511, 20101701, 20358619, 20648054, 20813212, 20956634, 21538815, 22095581, 23554019, 23884466, 24333532, 24344637, 24792298, 25116393, 28847661, 29350460, 29392890, 29706644, 30219046, 30513140, 31326520, 31475485, 31569402 View all (14 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz Syndrome |
Loeys-Dietz Syndrome |
GENOMICS_ENGLAND_DG |
16799921, 16928994, 26888179 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz Syndrome |
Loeys-Dietz Syndrome |
CTD_human_DG |
20358619, 22772368 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Loeys-Dietz Syndrome, Type 1a |
Loeys-Dietz Syndrome |
UNIPROT_DG |
15731757, 16596670, 16791849, 16928994, 19883511, 22113417 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Loeys-Dietz Syndrome, Type 1a |
Loeys-Dietz Syndrome |
GENOMICS_ENGLAND_DG |
15731757, 16799921, 16928994, 18070134, 24896178, 26888179 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Loeys-Dietz Syndrome, Type 1a |
Loeys-Dietz Syndrome |
CTD_human_DG |
20358619, 22772368 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Loeys-Dietz Syndrome, Type 1a |
Loeys-Dietz Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung Diseases, Interstitial |
Lung Diseases |
BEFREE |
20089076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
17607123, 18421475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
24816813, 33231090 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
17364494, 19020994 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
22278155 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
10515889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
32335702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
LHGDN |
14704634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
23455636, 33618707 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
28815787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
10416594, 15833881, 16204663, 16428477, 17072348, 17848193, 17848956, 19390964, 19930569, 21056993, 21461994, 21829601, 26165686, 26462028, 26583432, 26616150, 31257133 View all (2 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
27171242, 28657664 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
11910473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
29808285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
17607123, 30971692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of mouth |
Malignant neoplasm of mouth |
BEFREE |
31651066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
11406536 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
27035876, 8760600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
15385056, 15505640, 24903149, 25982816, 30973040, 9633523 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
CTD_human_DG |
21358634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
10602482, 22911926, 28522256, 31182928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
12947057, 16428477, 19004027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
12812985, 12947057, 15231662, 15270668, 16204663, 17607123, 17890272, 18316594, 18925687, 19390964, 19509225, 19882361, 20429896, 21358634, 21461994, 22584670, 22905183, 24933703, 26074400, 26165686, 26583432, 27166254, 28522256, 29064324, 29132261, 29193723, 29662646, 30384428, 31481511, 9809982 View all (15 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
15797633, 31435875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
17890272, 19509225, 20705955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
12145287, 15155736, 16428477, 17848956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Marfan Syndrome |
Marfan Syndrome |
BEFREE |
16799921, 16835936, 16981219, 17487218, 17936924, 18377530, 18781618, 19772952, 20538085, 21358634, 21789464, 24344637, 27112580, 28847661, 29350460, 29768367, 31098894 View all (2 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Marfan Syndrome |
Marfan Syndrome |
LHGDN |
16835936, 18781618 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Marfan Syndrome |
Marfan syndrome |
Pubtator |
17652900, 18781618, 20354336, 22300218, 28847661, 40243722 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Marfan Syndrome |
Marfan Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Marfan Syndrome, Type I |
Marfan Syndrome |
BEFREE |
18781618, 19159394 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
17565341, 24127404 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
25204799, 32327630 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
17565341 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
37730606 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
19542084 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
36901697 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
29051557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Miscarriage |
Miscarriage |
CTD_human_DG |
18539642 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitral Valve Prolapse Syndrome |
Mitral Valve Prolapse |
BEFREE |
24243761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitral Valve Prolapse Syndrome |
Mitral Valve Prolapse |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitral Valve Prolapse Syndrome |
Mitral Valve Prolapse |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
26433312 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
29295981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
29295981 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple self-healing epithelioma of Ferguson-Smith |
Multiple Self-Healing Epithelioma |
CLINGEN_DG |
21358634, 22096025, 27558455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple self-healing squamous epithelioma |
Multiple Self-Healing Epithelioma |
BEFREE |
21358634, 24747516, 29706644, 30513140, 9439661, 9722951 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Multiple self-healing squamous epithelioma |
Multiple Self-Healing Epithelioma |
ORPHANET_DG |
21358634 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Multiple self-healing squamous epithelioma |
Multiple Self-Healing Epithelioma |
CTD_human_DG |
21358634 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Multiple self-healing squamous epithelioma |
Multiple Self-Healing Epithelioma |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
24855276, 31481511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelofibrosis |
Myelofibrosis |
BEFREE |
28405618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
22136666 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
30053527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Ischemia |
Myocardial ischemia |
Pubtator |
31169351 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Polyps |
Nasal polyp |
Pubtator |
29367682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
29017171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
29017171 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck Neoplasms |
Neck Neoplasms |
BEFREE |
17890272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10515889, 11329144, 12947057, 15231662, 15385056, 15505640, 16204663, 17072348, 17297450, 17507611, 17575241, 17848956, 17890272, 19401691, 19509225, 19538729, 19998449, 20429896, 21225232, 22037217, 22859719, 23731466, 24747516, 25173755, 25622187, 25820415, 25976290, 26315674, 27100181, 27166254, 27267807, 27756784, 28575350, 29330296, 29531222, 29788434, 29855543, 29955905, 30557355, 30587556, 30971692, 30979739, 8636304, 8688329, 8760600, 8895761 View all (31 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
25153496, 27756784 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Niemann-Pick Disease, Type C |
Niemann-Pick Disease |
BEFREE |
29017171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
12781426, 19690145, 21225232, 22699812, 29371929, 30387848, 30557355 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oral cleft |
Oral cleft |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Neoplasms |
Oropharyngeal neoplasm |
Pubtator |
25273091 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
29514696 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis, Knee |
Knee osteoarthritis |
BEFREE |
23666869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
BEFREE |
31592234 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
31592234 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
20354825, 20429896, 30710564 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
20429896, 30710564 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
34630324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
26983758, 28064471, 34884451 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
27035876, 8760600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
17297450, 22699812 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasm |
Pancreatic Neoplasm |
BEFREE |
17230504, 8760600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
25791160, 26586478, 27035876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
33062039 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis Acute Necrotizing |
Pancreatitis |
Pubtator |
9445116 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis Chronic |
Pancreatitis |
Pubtator |
10400038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
29274137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PARKINSON DISEASE, LATE-ONSET |
Parkinson disease |
BEFREE |
30887626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penile hypospadias |
Penile Hypospadias |
BEFREE |
28894026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pericardial effusion |
Pericardial effusion |
BEFREE |
28159509 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral arterial stenosis |
Peripheral arterial stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peyronie Disease |
Peyronie Disease |
BEFREE |
31496148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
29409020, 30865275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia Vera |
Polycythemia vera |
Pubtator |
35427808 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Myelofibrosis |
Myelofibrosis |
BEFREE |
28405618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
15385056, 15505640, 24903149, 25982816, 30973040, 9633523 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
22705563, 25622187, 26152726, 26583432, 27166254, 29257105, 30138363, 30973040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
31734320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Emphysema |
Pulmonary Emphysema |
GENOMICS_ENGLAND_DG |
16799921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
30448291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary fibrosis |
Pubtator |
37724521 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
15382067, 28969055 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal fibrosis |
Renal fibrosis |
BEFREE |
23486519, 24088962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Diseases |
Respiratory Tract Diseases |
GWASCAT_DG |
30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
29034312 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
17594488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis Allergic |
Rhinitis |
Pubtator |
23884466, 33596578 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis Allergic Seasonal |
Seasonal allergic rhinitis |
Pubtator |
18201469 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rotator cuff syndrome |
Rotator cuff syndrome |
BEFREE |
31444797 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scleroderma |
Scleroderma |
BEFREE |
14722617, 15146427, 16575856, 16947635, 17317656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scleroderma Systemic |
Systemic sclerosis |
Pubtator |
17317656, 26357964 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis |
Scoliosis |
Pubtator |
26333736 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
BEFREE |
17072348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Shprintzen-Goldberg syndrome |
Shprintzen-Goldberg Syndrome |
BEFREE |
18781618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin Neoplasms |
BEFREE |
16170343, 8499949, 9439661 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Skin Neoplasms |
Skin Neoplasms |
CTD_human_DG |
21358634 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Skin Neoplasms |
Skin neoplasm |
Pubtator |
35886018 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Small cell carcinoma of lung |
Lung carcinoma |
LHGDN |
15955593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sporadic Breast Carcinoma |
Breast Carcinoma |
BEFREE |
17848956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
LHGDN |
18202754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
29235674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
22314103 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
31831099, 38287071, 39177040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of skin |
Skin carcinoma |
BEFREE |
27558455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
16478646, 22037217, 22859719, 23421960, 23640975, 25871396, 28865486, 29193723, 29506555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
10602482, 22688186, 22911926, 28522256, 31182928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
1312080, 23188426, 25173755, 26811494, 28522256 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
LHGDN |
18174246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
BEFREE |
25173755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subarachnoid Hemorrhage |
Subarachnoid hemorrhage |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
14722617, 15146427, 16575856, 16947635, 17317656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
LHGDN |
16947635 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| TARSAL-CARPAL COALITION SYNDROME |
Tarsal-Carpal Coalition Syndrome |
BEFREE |
15382067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Testicular Neoplasms |
Testicular Neoplasms |
BEFREE |
29788434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracic Diseases |
Thoracic disease |
Pubtator |
36007983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
28849102, 29274137 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
33905626 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transient Ischemic Attack |
Transient Ischemic Attack |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricuspid Valve Prolapse |
Tricuspid Valve Prolapse |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
34326372 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulnar polydactyly of fingers |
Postaxial hand polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uremia |
Uremia |
CTD_human_DG |
19092814 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
18311384, 19004027 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
25273091, 31435875 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Diseases |
Uterine polyp |
Pubtator |
32635855 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Neoplasms |
Uterine neoplasm |
Pubtator |
36791912 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
LHGDN |
16928994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
16928994 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular System Injuries |
Vascular system injury |
Pubtator |
16594992 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Dysfunction Left |
Ventricular dysfunction |
Pubtator |
22136666 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, group A |
Xeroderma Pigmentosum |
BEFREE |
9439661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |