| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 9q33.3q34.11 microdeletion syndrome |
9q33.3q34.11 microdeletion syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired cubitus valgus |
Cubitus valgus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANONYCHIA |
Anonychia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
21184584 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
21901133 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
21901133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behavior Disorders |
Behavior Disorders |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
26395556 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
29059683 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
24056967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chorea |
Chorea |
Pubtator |
32949189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Insomnia |
Insomnia |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
BEFREE |
29973660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clubfoot |
Clubfoot |
Pubtator |
37930140 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital anomaly of the kidney |
Multicystic renal dysplasia |
BEFREE |
18414507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
CTD_human_DG |
19147669 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
29852132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
11807867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
31545286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
31545286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
31545286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial hematuria |
Hematuria |
BEFREE |
29138824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
GENOMICS_ENGLAND_DG |
24042019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
BEFREE |
28059119 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal Segmental Glomerulosclerosis, Not Otherwise Specified |
Focal segmental glomerulosclerosis |
GENOMICS_ENGLAND_DG |
24042019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Genitopatellar Syndrome |
Genitopatellar Syndrome |
BEFREE |
16761293, 17431898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
10537763, 16825280, 18414507, 18952915, 19222527, 21850167, 29891935 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma |
Glaucoma |
Pubtator |
16825280, 21850167, 28059119, 29452408, 29617998, 34440426, 37930140 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma |
Glaucoma |
GWASCAT_DG |
30054594 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma Open Angle |
Open angle glaucoma |
Pubtator |
17515884, 21850167, 29449654, 29452408, 34440426 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Open-Angle |
Glaucoma |
BEFREE |
10425280, 17515884, 9618165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Open-Angle |
Glaucoma |
GWASCAT_DG |
29891935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Primary Open Angle |
Glaucoma |
BEFREE |
18952915, 22773901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
32960116, 34153159 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulonephritis |
Glomerulonephritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis (disorder) |
Glomerulosclerosis |
BEFREE |
17657578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis Focal Segmental |
Focal segmental glomerulosclerosis |
Pubtator |
28059119, 29138824, 32791958, 33814499, 39490407 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gray Platelet Syndrome |
Gray Platelet Syndrome |
BEFREE |
17431898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
CTD_human_DG |
20199424 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of first ribs |
Hypoplasia Of Rib |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
10966502, 11956244, 15928687, 19222527, 24042019, 26560070, 27450397, 29246420 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney disease |
Pubtator |
28059119, 32949189, 33055489, 33814499, 34076843, 37930140, 39490407 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Failure |
Kidney Failure |
GENOMICS_ENGLAND_DG |
24042019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure Chronic |
Kidney failure |
Pubtator |
19194568, 29973660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
29973660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Klippel-Trenaunay-Weber Syndrome |
Klippel-Trenaunay-Weber Syndrome |
BEFREE |
28059119 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngeal Squamous Cell Carcinoma |
Laryngeal Carcinoma |
BEFREE |
31387183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
21184584 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
31545286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
24056967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31387183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Disorders, Severe |
Mental Disorders |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphakia |
Microphakia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood Disorders |
Mood disorder |
Pubtator |
21850167 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
Nail Diseases |
BEFREE |
10767331, 28335748, 28383544 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail dysplasia |
Nail dysplasia |
BEFREE |
10767331, 27450397, 28335748, 28383544 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail-Patella Syndrome |
Nail-Patella Syndrome |
BEFREE |
10425280, 10537763, 10571942, 10767331, 10854116, 11668639, 11956244, 12215822, 12792813, 12819019, 15562281, 15774843, 15785774, 15928687, 16825280, 17431898, 17515884, 17657578, 18414507, 18535845, 18538102, 18595794, 18952915, 19222527, 19721866, 20531206, 21184584, 21850167, 22211385, 23687361, 24042019, 24720768, 25380522, 25898926, 26560070, 27109743, 27450397, 28335748, 28383544, 29246420, 29290531, 29973660, 30084575, 30503662, 31053111, 31746280, 9590287, 9590288, 9618165, 9837817 View all (35 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-Patella Syndrome |
Nail-Patella Syndrome |
UNIPROT_DG |
10571942, 11668639, 9590287, 9618165, 9837817 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-Patella Syndrome |
Nail-Patella Syndrome |
LHGDN |
11668639, 11978876, 12819019, 15638822, 17710881, 18562181, 18595794, 18634531 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-Patella Syndrome |
Nail-Patella Syndrome |
GENOMICS_ENGLAND_DG |
18414507, 2012138, 24042019 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-Patella Syndrome |
Nail-Patella Syndrome |
CTD_human_DG |
19147669, 20199424 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-patella syndrome |
Nail-Patella Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-Patella Syndrome |
Nail-Patella Syndrome |
CLINVAR_DG |
26380986 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nail-patella-like renal disease |
Nail patella-like renal disease |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Neoplasms |
Neoplasms |
BEFREE |
24056967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
BEFREE |
17466922, 28059119 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic syndrome |
Pubtator |
16050398, 28335748 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephrotic Syndrome |
Nephrotic Syndrome |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
36835019 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
26526610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
20199424 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonorganic Insomnia |
Nonorganic Insomnia |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
31936053, 32357537, 33315090 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ocular Hypertension |
Ocular hypertension |
Pubtator |
21850167 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
37749624 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoarthritis Hip |
Osteoarthritis |
Pubtator |
37749624 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis Knee |
Osteoarthritis |
Pubtator |
37749624 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis of hip |
Osteoarthritis Of Hip |
GWASCAT_DG |
30374069, 30664745 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoarthritis of hip |
Osteoarthritis Of Hip |
CTD_human_DG |
30374069 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
24056967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
11724911, 19189040, 22426839, 25915474, 26526610, 27407143 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pediatric Obesity |
Childhood obesity |
BEFREE |
26604143 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Insomnia |
Insomnia |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
35832649 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychophysiological Insomnia |
Psychophysiological Insomnia |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Dysplasia |
Renal dysplasia |
BEFREE |
9590287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal dysplasia |
Renal dysplasia |
BEFREE |
9590287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
BEFREE |
12215822, 24042019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salcedo syndrome |
Nail patella-like renal disease |
BEFREE |
23687361, 24042019, 28059119 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Salcedo syndrome |
Infantile spasms |
Pubtator |
23687361, 28059119, 32791958 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Salcedo syndrome |
Nail patella-like renal disease |
ORPHANET_DG |
24042019, 25713721 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
BEFREE |
20570600, 30084575 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
20570600 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
Pubtator |
30084575 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Initiation and Maintenance Disorders |
Sleep Disorders |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Initiation Dysfunction |
Sleep Disorders |
CTD_human_DG |
20199424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida |
Spina Bifida |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
31387183 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
35342753 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
10571942, 17515884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unipolar Depression |
Mental Depression |
BEFREE |
21184584 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vasculitis |
Vasculitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
BEFREE |
29973660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |