| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
28577945 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
24184715 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic sensorineural deafness type DFNA |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bardet-Biedl syndrome 4 (disorder) |
Bardet-Biedl Syndrome |
BEFREE |
10409426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Metabolic |
Bone disease |
Pubtator |
36077598 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
15282353 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomegaly |
Cardiomegaly |
Pubtator |
7883988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
17192269, 19651039, 22194935, 24344137, 25241052, 29626422, 38006882 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
18375581 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
1867322, 24367593, 28606303, 33864791, 34161147, 36422472, 38006882 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
10525522, 1430197, 1552912, 15550524, 16918501, 18258667, 18273486, 18411228, 19651039, 22789852, 24344137, 24367593, 27247418, 27600940, 27974200, 28246639, 28481356, 31582565, 32284968, 33864791, 33983830, 35767336, 36577774, 36613463, 38006882, 38377203, 38538344, 39393252, 7883988 View all (14 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic Familial |
Cardiomyopathy |
Pubtator |
1552912, 23318932, 8981935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
BEFREE |
30518549 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrovascular accident |
Stroke |
BEFREE |
27247418 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
23285077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
BEFREE |
18471249 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
18391202, 29024942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
BEFREE |
20357587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
19357768 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
29908844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crisponi syndrome |
Crisponi syndrome |
Pubtator |
27247418, 37914935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Critical Illness |
Critical illness |
Pubtator |
21926599, 23098317, 36222215 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystinosis |
Cystinosis |
Pubtator |
30519981 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
25289672, 30682115 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness Autosomal Recessive |
Deafness |
Pubtator |
10330345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness Autosomal Recessive 3 |
Deafness |
Pubtator |
10330345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness, Autosomal Dominant 4 |
Deafness |
BEFREE |
15015131 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 4 |
Deafness |
UNIPROT_DG |
15015131, 16222661 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 4 |
Deafness |
GENOMICS_ENGLAND_DG |
21480433, 27875632 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 4 |
Deafness |
CLINVAR_DG |
30828794 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 4 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
32041280 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal Hereditary Motor Neuropathy Type II |
Distal hereditary motor neuropathy |
Pubtator |
27875632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis Focal Segmental |
Focal segmental glomerulosclerosis |
Pubtator |
21910715 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type V |
Glycogen storage disease |
Pubtator |
35563042 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gout |
Gout |
Pubtator |
27169898 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
13680526, 19027848, 21480433, 24105371, 25080041, 27875632, 31898538, 34681017 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
26242193 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
19854198, 23343568, 33605878 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
19357768 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
19919996, 21193562, 22789852, 33605878, 33864791, 37914935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Ventricular |
Congenital heart septal defect |
Pubtator |
36209093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Nonpolyposis Colorectal Cancer |
Colorectal Cancer |
BEFREE |
18941465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
12566107, 18375581 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
12566107, 18375581, 31035291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
20309925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure Chronic |
Kidney failure |
Pubtator |
21910715, 26776194 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
8219185 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
8219185 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Limb Deformities Congenital |
Congenital anomaly of limb |
Pubtator |
17430991 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Low anorectal malformation |
Low Anorectal Malformation |
ORPHANET_DG |
28191911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
22096245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
31358530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
17013881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25087729, 29255650 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
36233186 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mouth Diseases |
Mouth disease |
Pubtator |
20567502 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucocutaneous Lymph Node Syndrome |
Kawasaki disease |
Pubtator |
37550746 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy Duchenne |
Duchenne muscular dystrophy |
Pubtator |
36254806 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy Facioscapulohumeral |
Facioscapulohumeral muscular dystrophy |
Pubtator |
23272181, 30462217, 34859613 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocarditis |
Myocarditis |
Pubtator |
10903337 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
18555187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy Myosin Storage |
Myosin storage myopathy |
Pubtator |
26945064, 8981935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOPATHY, MYOSIN STORAGE (disorder) |
Myosin storage myopathy |
BEFREE |
15699387, 28125727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonia Congenita |
Myotonia congenita |
Pubtator |
22798622, 7608737 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
20066428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOTONIC DYSTROPHY 1 |
Myotonic dystrophy |
BEFREE |
21872659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16790446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular disease |
Pubtator |
27875632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
15015131, 16222661, 19183343, 25289672, 25719458, 27393652, 28101381, 28221712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
21368133, 28221712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
27844135 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
36077598 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
31358530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelvic Organ Prolapse |
Pelvic organ prolapse |
Pubtator |
26612295 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral motor neuropathy |
Motor nerve neuritis |
BEFREE |
27875632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
21480433, 31231018 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
21480433, 31231018 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
BEFREE |
21480433 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
GENOMICS_ENGLAND_DG |
21480433, 27875632, 30373780 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
CLINVAR_DG |
21480433, 26257172 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
UNIPROT_DG |
21480433 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
ORPHANET_DG |
21480433 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Polycystic Kidney Diseases |
Polycystic kidney disease |
Pubtator |
29779890 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
17013881 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
28814772 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
19196822 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatic Heart Disease |
Rheumatic heart disease |
Pubtator |
10931141 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
37679666 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
33605878, 33864791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tongue Neoplasms |
Tongue cancer |
Pubtator |
14730689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
BEFREE |
9261248 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Dysfunction Left |
Ventricular dysfunction |
Pubtator |
22789852 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |