| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acoustic Neuroma |
Acoustic Neuroma |
BEFREE |
28947096, 29561382, 30095338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anhidrosis |
Anhidrosis |
BEFREE |
26804344 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Juvenile |
Juvenile arthritis |
Pubtator |
36167601 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bohring syndrome |
Bohring-Opitz syndrome |
BEFREE |
30300710 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
29773567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
27378695 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage Diseases |
Cartilage disease |
Pubtator |
17935617 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cold-induced sweating syndrome |
Cold-Induced Sweating Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
ORPHANET_DG |
12509788, 17436251 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
UNIPROT_DG |
12509788, 16952376, 17436251, 17436252, 21326283, 23026229, 24488861 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
GENOMICS_ENGLAND_DG |
12509788 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
BEFREE |
24488861, 24613578 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 2 |
Cold-Induced Sweating Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
28437455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
9810318 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Convergence Insufficiency |
Convergence Insufficiency |
BEFREE |
27464572, 27464574, 31651593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crisponi syndrome |
Crisponi Syndrome |
ORPHANET_DG |
12509788, 17436251, 17436252 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
BEFREE |
16782820, 17436251, 17436252, 20186812, 20400119, 21326283, 23181498, 24008591, 24488861, 24613578, 27392078, 30142437, 30300710 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi syndrome |
Pubtator |
17436251, 17436252, 27392078 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
19921088, 30298554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatofibrosis lenticularis disseminata |
Dermatofibrosis Lenticularis Disseminata |
BEFREE |
29074562, 30300710 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
24488861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Achalasia |
Achalasia |
BEFREE |
27976805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Achalasia |
Achalasia |
ORPHANET_DG |
27976805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Flexion contracture - elbow |
Elbow flexion contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic neoplasm |
Pubtator |
25679997 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
30882592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic achalasia of esophagus |
Idiopathic achalasia |
ORPHANET_DG |
27976805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
22429962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratitis |
Keratitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meniere Disease |
Meniere Disease |
BEFREE |
29168026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
37047661 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya Disease |
Moyamoya Disease |
BEFREE |
30315975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya disease 1 |
Moyamoya disease |
BEFREE |
30315975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
25679997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
25679997 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29515111, 30339649, 31624121 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms, Intracranial |
Intracranial Neoplasm |
BEFREE |
29773567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
23818941 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oral Ulcer |
Oral Ulcer |
GWASCAT_DG |
30837455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
30298554 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
29515111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
22429962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
27392078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
BEFREE |
27392078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal stenosis of lumbar region |
Spinal Stenosis Of Lumbar Region |
BEFREE |
29329787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
BEFREE |
27464572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
BEFREE |
17436252 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigeminal Neuralgia |
Trigeminal neuralgia |
BEFREE |
29388798, 30139749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trismus |
Trismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |