| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmogenic Right Ventricular Dysplasia |
Arrhythmogenic right ventricular cardiomyopathy |
Pubtator |
28767663 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Cell Nevus Syndrome |
Basal cell nevus syndrome |
Pubtator |
29081410 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency |
Cardioencephalomyopathy |
ORPHANET_DG |
21412973, 2175025 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency |
Cardioencephalomyopathy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 |
Cardioencephalomyopathy |
UNIPROT_DG |
12474143, 21412973 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 |
Cardioencephalomyopathy |
GENOMICS_ENGLAND_DG |
15235026, 27604308 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 |
Cardioencephalomyopathy |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
15863660 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
15863660 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, INFANTILE HYPERTROPHIC |
Cardiomyopathy |
BEFREE |
12474143, 26940873, 26959537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central nervous system demyelination |
Central Nervous System Demyelination |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
35438744 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome c Oxidase Deficiency |
Cytochrome c oxidase deficiency |
Pubtator |
15863660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
BEFREE |
12474143, 15863660 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
LHGDN |
15235026 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathy, Subacute Necrotizing, Infantile |
Encephalopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathy, Subacute Necrotizing, Juvenile |
Encephalopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatal infantile cytochrome C oxidase deficiency |
Fatal Cytochrome C Oxidase Deficiency |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Fatty Liver |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
12474143, 12928484 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
LHGDN |
12474143 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
12474143, 12928484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
LHGDN |
15235026 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
UNIPROT_DG |
15235026, 15863660 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
GENOMICS_ENGLAND_DG |
15235026, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
15863660, 26940873, 26959537 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
CLINVAR_DG |
15863660, 21412973, 22310368, 26959537 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh syndrome |
Pubtator |
15863660 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
Leigh Syndrome |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome Due To Mitochondrial Complex II Deficiency |
Leigh Syndrome |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex III Deficiency |
Leigh Syndrome |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex IV Deficiency |
Leigh Syndrome |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex IV Deficiency |
Leigh Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex V Deficiency |
Leigh Syndrome |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh syndrome with leukodystrophy |
Leigh Syndrome With Leukodystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mood swings |
Mood swings |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Necrotizing encephalopathy, infantile subacute, of Leigh |
Necrotizing encephalomyelopathy |
CLINGEN_DG |
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
26940873 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
34743649 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cerebellar ataxia |
Cerebellar Ataxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
17483440 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |