| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
26125932, 37373264 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
37373264 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
21775499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
26648553 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
21150889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
GENOMICS_ENGLAND_DG |
21150889, 26741492, 27604308, 28247337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
CLINGEN_DG |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh syndrome |
Pubtator |
21150889, 36675121 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
Leigh Syndrome |
CLINGEN_DG |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome Due To Mitochondrial Complex II Deficiency |
Leigh Syndrome |
CLINGEN_DG |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex III Deficiency |
Leigh Syndrome |
CLINGEN_DG |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex IV Deficiency |
Leigh Syndrome |
CLINGEN_DG |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Syndrome due to Mitochondrial Complex V Deficiency |
Leigh Syndrome |
CLINGEN_DG |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ 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 |
| Mitochondrial complex I deficiency |
Mitochondrial complex deficiency |
Pubtator |
21150889, 37373264 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 |
Mitochondrial Complex Deficiency |
UNIPROT_DG |
21150889, 26741492 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 |
Mitochondrial Complex Deficiency |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 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 |
21150889, 22200994, 27509854, 27626371, 28247337 |
|
★★★★★★☆☆☆☆ 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 |
| 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 |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
34124242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
28117656 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Severe intellectual disability |
Mental retardation |
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 |