| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Abnormal dermatoglyphic pattern |
Abnormal dermatoglyphic pattern |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Accessory nipple |
Accessory Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acrofacial Dysostosis |
Acrofacial Dysostosis |
BEFREE |
27370710 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Erythroblastic Leukemia |
Erythroblastic Leukemia |
CTD_human_DG |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis cutis dyschromia |
Amyloidosis Cutis Dyschromia |
BEFREE |
31025527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Sickle Cell |
Anemia |
CTD_human_DG |
38827 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Arthritis |
Arthritis |
BEFREE |
21845515, 28196676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
39217320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
31043571, 31087527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
35514210, 37744270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Avellino corneal dystrophy |
Avellino Corneal Dystrophy |
BEFREE |
31025527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| beta Thalassemia |
beta Thalassemia |
CTD_human_DG |
38827 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28362817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carbamoyl-Phosphate Synthase I Deficiency Disease |
Carbamoyl Phosphate Synthase Deficiency |
BEFREE |
29723133 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
20399851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31841108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of the kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of radius |
Congenital Hypoplasia Of Radius |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplastic anemia |
Congenital Hypoplastic Anemia |
BEFREE |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
GENOMICS_ENGLAND_DG |
21851494 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cooley`s anemia |
Cooley`s Anemia |
CTD_human_DG |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear Diseases |
Ear disease |
Pubtator |
37120754 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectropion |
Ectropion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
36700627 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Freeman-Sheldon syndrome |
Freeman-Sheldon Syndrome |
BEFREE |
23819870 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genee-Wiedemann syndrome |
Miller syndrome |
BEFREE |
19915526, 20037612, 22692683, 22967083, 27370710 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genee-Wiedemann syndrome |
Miller syndrome |
GENOMICS_ENGLAND_DG |
19915526, 21851494, 27626380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genee-Wiedemann syndrome |
Miller syndrome |
UNIPROT_DG |
19915526 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genee-Wiedemann syndrome |
Miller syndrome |
CLINVAR_DG |
19915526, 21346561, 22692683, 22967083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genee-Wiedemann syndrome |
Miller syndrome |
ORPHANET_DG |
19915526 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genee-Wiedemann syndrome |
Miller syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
30352802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemoglobin F Disease |
Hemoglobinopathy |
CTD_human_DG |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary spherocytosis |
Hereditary Spherocytosis |
CTD_human_DG |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemias |
Hyperlipidemia |
Pubtator |
36368321 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of thumb |
Hypoplasia Of Thumb |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23216091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
27641501 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
35514210 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
33176741, 35514210, 35790845 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
27641501, 29880605, 29939742, 30347213, 30940908, 31699789 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Limb Deformities Congenital |
Congenital anomaly of limb |
Pubtator |
37120754 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
30894353 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28362817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27721149, 28084471, 28196676, 28666740, 28928900, 29119937, 30233375, 30347213, 30940908, 31087527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
36368321 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
21430780, 28729227, 28928900, 29348830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
30781968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
23216091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
28574826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
34721394 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Narcolepsy |
Narcolepsy |
GWASDB_DG |
19629137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
36737723 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30233375, 30449682, 30663496 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasm |
Pancreatic Neoplasm |
BEFREE |
29628435 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peg-shaped teeth |
Peg-Shaped Teeth |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Postaxial acrofacial dysostosis |
Miller syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Radioulnar Synostosis |
Radioulnar Synostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
19207032, 22966891, 28270195, 28574826, 31132976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
31694929 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
33510132 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Supernumerary vertebra |
Supernumerary Vertebra |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thalassemia Intermedia |
Thalassemia |
CTD_human_DG |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thalassemia Minor |
Thalassemia |
CTD_human_DG |
38827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
29221122 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |