| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
CTD_human_DG |
30061737 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorder |
Autism |
Pubtator |
24736721 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
24736721 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
40679635 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21945317 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
21945317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
BEFREE |
22648180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression Postpartum |
Major depressive disorder |
Pubtator |
24022475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Insipidus |
Diabetes Insipidus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Atresia |
Esophageal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
29149419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
29149419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung Disease |
BEFREE |
20977903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopituitarism |
Hypopituitarism |
BEFREE |
24022475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopituitarism |
Hypopituitarism |
Pubtator |
24022475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
BEFREE |
22648180, 23285176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
Pubtator |
23285176 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
12239177 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kallmann Syndrome |
Kallmann Syndrome |
ORPHANET_DG |
24022475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25611915 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21945317 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
29948506 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
17899366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
35606887 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
30231889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
36203533 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
20709796, 25611915, 25613063, 29149419, 29948506, 30305224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
12239177 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
20977903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurogenic Urinary Bladder |
Neurogenic Urinary Bladder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
25613063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
30563851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
34214899 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
CTD_human_DG |
30061737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penile hypospadias |
Penile Hypospadias |
BEFREE |
22648180, 23285176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
24022475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
24736721 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
24736721 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septo-Optic Dysplasia |
Septo-Optic Dysplasia |
ORPHANET_DG |
24022475 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Septo-Optic Dysplasia |
Septo-Optic Dysplasia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Septo-optic dysplasia spectrum |
Septo-Optic Dysplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Somatotropin deficiency |
Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
29948506 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
24022475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| WEBB-DATTANI SYNDROME |
Webb-Dattani Syndrome |
GENOMICS_ENGLAND_DG |
24022475 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| WEBB-DATTANI SYNDROME |
Webb-Dattani Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |