| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adult Fanconi syndrome |
Fanconi syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amnesia |
Amnesia |
BEFREE |
25385369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
31692063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21444724 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
21444724, 25409762 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
BEFREE |
18771761 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
GENOMICS_ENGLAND_DG |
27604308, 28499982 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dementia |
Dementia |
BEFREE |
25385369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
25385369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| FASTKD2-related infantile mitochondrial encephalomyopathy |
Encephalomyopathy |
ORPHANET_DG |
18771761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| FASTKD2-related infantile mitochondrial encephalomyopathy |
Encephalomyopathy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21444724 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
31692063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
25409762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31692063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MELAS Syndrome |
MELAS Syndrome |
BEFREE |
28499982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Memory Disorders |
Memory disorders |
Pubtator |
25385369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
BEFREE |
18771761, 28499982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
LHGDN |
18771761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
Pubtator |
26370583 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25409762, 31692063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
25385369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
31692063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
31692063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phosphate Diabetes |
Phosphate Diabetes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
25385369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
25409762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal tubular disorder |
Renal Tubular Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
30546022 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |