| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
30361541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
CLINVAR_DG |
21907147, 24461907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Ganglia Diseases |
Basal ganglia disease |
Pubtator |
30911575 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Stem Neoplasms |
Brain stem neoplasms |
Pubtator |
30911575 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
25450481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
25911677, 28058511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
25911677 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Diabetes Insipidus |
Diabetes Insipidus |
BEFREE |
26383014, 29383667, 29528385, 30632052, 31001619, 31617299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
BEFREE |
27393152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
28586116, 31751317 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
30940601 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
36299603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined oxidative phosphorylation defect type 15 |
Combined Oxidative Phosphorylation Deficiency |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 |
Combined Oxidative Phosphorylation Deficiency |
ORPHANET_DG |
21907147 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
21907147, 22499348, 23499752, 24123792, 24461907, 25288793, 26633545 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 |
Combined Oxidative Phosphorylation Deficiency |
UNIPROT_DG |
21907147 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 |
Combined Oxidative Phosphorylation Deficiency |
GENOMICS_ENGLAND_DG |
22499348, 23499752, 24461907, 27564080 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 |
Combined Oxidative Phosphorylation Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crohn Disease |
Crohn Disease |
BEFREE |
29528385, 30900526 |
|
★★★★★★☆☆☆☆ 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 |
| Graft-vs-Host Disease |
Graft-Vs-Host Disease |
BEFREE |
30940601 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatic Encephalopathy |
Hepatic Encephalopathy |
BEFREE |
31751317 |
|
★★★★★★☆☆☆☆ 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 |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
28486648, 29528385, 30010734, 30900526, 31784432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
27393152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
CLINVAR_DG |
21907147, 24461907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh syndrome |
Pubtator |
21907147, 23499752, 25911677, 30911575 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
23499752, 25911677, 26060307, 28058511 |
|
★★★★★★☆☆☆☆ 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 |
| Leukoencephalopathy |
Leukoencephalopathy |
BEFREE |
28058511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
28586116, 31751317 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Childhood Neoplasm |
Malignant Neoplasm |
BEFREE |
30940601 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
25450481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
19847811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
19847811, 30940601 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Carcinoma, Human |
Marfan Syndrome |
BEFREE |
29378144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 |
Mitochondrial Complex Deficiency |
UNIPROT_DG |
22499348 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 |
Mitochondrial Complex Deficiency |
GENOMICS_ENGLAND_DG |
22499348, 23499752, 24461907 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
23499752, 25735936, 30911575 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
CLINVAR_DG |
21907147, 24461907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Respiratory Chain Deficiencies |
Mitochondrial Respiratory Chain Deficiencies |
BEFREE |
23499752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood swings |
Mood swings |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya Disease |
Moyamoya Disease |
BEFREE |
27393152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya disease 1 |
Moyamoya disease |
BEFREE |
27393152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
31705175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25450481 |
|
★★★★★★☆☆☆☆ 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 |
27940248 |
|
★★★★★★☆☆☆☆ 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 |
| Oxidative Phosphorylation Deficiencies |
Oxidative Phosphorylation Deficiency |
BEFREE |
26060307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
28294334 |
|
★★★★★★☆☆☆☆ 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 |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
19847811 |
|
★★★★★★☆☆☆☆ 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 |
| Rhegmatogenous retinal detachment |
Rhegmatogenous retinal detachment |
BEFREE |
31773840 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
30940601 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
29528385, 30873549, 30900526, 31408913 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |