| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenoma |
Adenoma |
BEFREE |
21694772 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer disease, familial, type 3 |
Alzheimer disease |
BEFREE |
28465560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
22815890 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis |
Amyloidosis |
BEFREE |
31526272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
29472887 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
Pubtator |
15369674 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Diamond-Blackfan |
Anemia |
BEFREE |
15996880, 18815190, 26058344 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Diamond-Blackfan |
Anemia |
LHGDN |
18815190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
31056802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
31056802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
30472056, 31082526 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atrial Fibrillation |
Atrial Fibrillation |
BEFREE |
29333567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
26405069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign Prostatic Hyperplasia |
Benign Prostatic Hyperplasia |
BEFREE |
15870707, 23762225, 31421692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28666157, 30447050, 30685529, 30835021, 31138829, 31176149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchiectasis |
Bronchiectasis |
BEFREE |
28502416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
21694772 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
32626942, 35907846, 36894886 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
30579265, 31709467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood asthma |
Asthma |
GWASCAT_DG |
30929738 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
32626942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
28566556, 30299171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
25191865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
33313944 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
30299171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniometaphyseal Dysplasia Autosomal Dominant |
Craniometaphyseal dysplasia |
Pubtator |
38296890 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
25191865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
30685529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis, Atopic |
Dermatitis |
BEFREE |
31330126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
31092214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
31092214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
28706239 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
26405069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
28706239, 29761319, 30514492, 31490104 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Duodenal Ulcer |
Duodenal Ulcer |
BEFREE |
31492912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
30514492 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
BEFREE |
31330126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythema Multiforme |
Erythema |
BEFREE |
29660918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Achalasia |
Achalasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial lichen amyloidosis |
Lichen amyloidosis |
BEFREE |
28230260, 29218420, 29264792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fecal Incontinence |
Bowel incontinence |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fowler syndrome |
Fowler Syndrome |
BEFREE |
20823265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
32626942 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
32626942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Disease |
Graves Disease |
BEFREE |
21829393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gross motor development delay |
Developmental delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory and Autonomic Neuropathies |
Hereditary sensory and autonomic neuropathy |
BEFREE |
27923065, 31408049 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hereditary Sensory and Autonomic Neuropathies |
Hereditary sensory and autonomic neuropathy |
Pubtator |
35263888, 37769650 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Huntington Disease |
Huntington Disease |
BEFREE |
28871787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
28706239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
Pubtator |
28706239 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
28188214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxic-Ischemic Encephalopathy |
Hypoxic-Ischemic Encephalopathy |
BEFREE |
30142532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral disc disease |
Pubtator |
36267810 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron overload |
Pubtator |
35644542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
BEFREE |
31056802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Jeune thoracic dystrophy |
Jeune Thoracic Dystrophy |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| leukemia |
Leukemia |
BEFREE |
28766925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Limb Deformities Congenital |
Congenital anomaly of limb |
Pubtator |
18815190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
28284560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
30076742, 31141523 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Machado-Joseph Disease |
Machado-Joseph Disease |
BEFREE |
30035006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28666157, 30447050, 30685529, 30835021, 31138829, 31176149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
15870707, 18257117, 19459176, 20056642, 21248069, 22262664, 23166609, 23459097, 23764901, 24564736, 24707491, 25686826, 27023445, 27056344, 27470540, 27601638, 28445813, 28498363, 28617988, 28752596, 29032455, 29532957, 29844697, 29951374, 30197761, 30363496, 30451032, 30611450, 31421692, 31449673, 31807193 View all (16 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
12651714, 25686826, 25997610, 28230260, 29119730, 29293508, 30388465, 30611450, 31419024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
30685529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic Prostate Carcinoma |
Metastatic Prostate Carcinoma |
BEFREE |
15870707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine with Aura |
Migraine with Aura |
BEFREE |
31369637 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
36267810 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
10830426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
21070897, 21267618, 22279524, 24628582, 27923065, 9409377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya Disease |
Moyamoya Disease |
BEFREE |
31092214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya disease 1 |
Moyamoya disease |
BEFREE |
31092214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multinodular goiter |
Multinodular goiter |
BEFREE |
30483387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myxoma |
Myxoma |
BEFREE |
30900156 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
11025389, 15836779, 21853153, 23166609, 23806492, 27023445, 28901490, 30076742, 30557332, 31138829, 31154465, 31384175, 31500112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
37769650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
23506900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
22262664 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
28706239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteomyelitis |
Osteomyelitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
33099956 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Otitis Media |
Otitis media |
BEFREE |
21285435 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pain Insensitivity Congenital |
Congenital pain insensitivity |
Pubtator |
37769650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
12610506 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
30483387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
18692253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
29806498 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyendocrinopathies, Autoimmune |
Autoimmune Polyendocrinopathy |
BEFREE |
26405069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Porphyria Cutanea Tarda |
Porphyria cutanea tarda |
Pubtator |
29856826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
Posterior column ataxia-retinitis pigmentosa syndrome |
GENOMICS_ENGLAND_DG |
21070897, 21267618 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
Posterior column ataxia-retinitis pigmentosa syndrome |
UNIPROT_DG |
21070897, 21267618 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Posterior column ataxia with retinitis pigmentosa |
Posterior column ataxia with retinitis pigmentosa |
Pubtator |
21070897, 29192808 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
Posterior column ataxia-retinitis pigmentosa syndrome |
BEFREE |
21267618, 23506900, 24628582, 28766925, 29192808, 30444160 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
Posterior column ataxia-retinitis pigmentosa syndrome |
ORPHANET_DG |
21267618 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
Posterior column ataxia-retinitis pigmentosa syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
Posterior column ataxia-retinitis pigmentosa syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Posterior column ataxia-retinitis pigmentosa syndrome |
Posterior column ataxia-retinitis pigmentosa syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
15870707, 18257117, 19459176, 20056642, 21248069, 22262664, 23166609, 23459097, 23764901, 24564736, 24707491, 25686826, 27023445, 27056344, 27470540, 27601638, 28445813, 28498363, 28617988, 28752596, 29032455, 29532957, 29844697, 29951374, 30197761, 30229657, 30363496, 30451032, 30611450, 31421692, 31449673, 31807193 View all (17 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Diseases |
Prostatic Diseases |
BEFREE |
25686826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Protoporphyria Erythropoietic |
Erythropoietic protoporphyria |
Pubtator |
15369674 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
29192808 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
21070897, 22483575, 29192808, 30444160, 30656474 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
29192808 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RHYNS syndrome |
Rhyns syndrome |
Pubtator |
29192808 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory neuropathy |
Sensory neuropathy |
BEFREE |
24628582 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Sepsis |
Sepsis |
Pubtator |
37398680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Short Rib-Polydactyly Syndrome |
Short Rib-Polydactyly Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Sicca Syndrome |
Sjogren`s Syndrome |
BEFREE |
29532854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
29078250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32626942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sweet Syndrome |
Sweet Syndrome |
BEFREE |
29532854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| synovial sarcoma |
Synovial sarcoma |
BEFREE |
29532854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
30806858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Nodule |
Thyroid Nodule |
BEFREE |
28220335 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
35465835 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
27923065 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |