| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Akinesia |
Akinesia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amnesia |
Amnesia |
BEFREE |
28522250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
16166153, 36207621, 36493768, 37322040, 37460234, 37916889, 38150853, 38487929, 40156335, 40191983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Sensory Autosomal Dominant |
Ataxia, sensory, autosomal dominant |
Pubtator |
40156335 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia, Spinocerebellar |
Spinocerebellar Ataxia |
LHGDN |
15365159, 16211615 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ataxia, Spinocerebellar |
Spinocerebellar Ataxia |
BEFREE |
16211615, 19621416, 21600715 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
Pubtator |
32717741 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
37460234 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases of the Nervous System |
Autoimmune nervous system disorder |
Pubtator |
37460234 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autonomic Nervous System Diseases |
Autonomic nervous system disease |
Pubtator |
36493768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
37460234 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Stem Neoplasms |
Brain stem neoplasms |
Pubtator |
37460234 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
36216883 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome (disorder) |
Brugada Syndrome |
BEFREE |
24096171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
Pubtator |
31467233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
34783177 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
34061869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage Diseases |
Cartilage Diseases |
CTD_human_DG |
11241832 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebellar Ataxia |
Cerebellar ataxia |
Pubtator |
36493768, 36516086, 37916889, 38150853, 38487929, 40556471, 40579842 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondromalacia |
Chondromalacia |
CTD_human_DG |
11241832 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic lung disease |
Lung Diseases |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
16166153 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
19471976 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cognition Disorders |
Cognitive disorder |
CTD_human_DG |
26089778 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Color Blindness, Red-Green |
Color blindness |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32654025 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Common Variable Immunodeficiency |
Common Variable Immunodeficiency |
GWASDB_DG |
21497890 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
26149656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dentatorubral-Pallidoluysian Atrophy |
Dentatorubral Pallidoluysian Atrophy |
BEFREE |
20641168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
30825225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
GWASCAT_DG |
28736931 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
Pubtator |
37460234, 40191983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgraphia |
Dysgraphia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinesias, Paroxysmal |
Dyskinesia |
BEFREE |
12489043, 19471976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
BEFREE |
15895552, 21600715 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Episodic Ataxia |
Episodic Ataxia |
BEFREE |
25566820, 30607796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Episodic Ataxia |
Episodic ataxia |
Pubtator |
32162847, 36207621 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Episodic Ataxia Type 2 |
Episodic ataxia |
Pubtator |
32162847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
BEFREE |
19621416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foramen Ovale, Patent |
Patent foramen ovale |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type II |
Glycogen storage disease |
Pubtator |
37322040, 37916889, 40579842 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
26483173 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
BEFREE |
19621416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
19471976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility Male |
Male infertility |
Pubtator |
34204705 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral disc disorder |
Intervertebral Disc Disorder |
BEFREE |
30825225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Diseases |
Intestinal disease |
Pubtator |
17071588 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
32162847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lingual-Facial-Buccal Dyskinesia |
Orofacial dyskinesia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
38040694 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
30189289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mixed anxiety and depressive disorder |
Mixed Anxiety And Depressive Disorder |
BEFREE |
28469558 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
16211615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple System Atrophy |
Multiple system atrophy |
Pubtator |
37916889 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
38487929, 40579842 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
37460234 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus Pathologic |
Nystagmus |
Pubtator |
12525540, 32157568, 32162847, 36207621, 38381176, 40191983, 40556471 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus, End-Position |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
32862604 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
34061869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease Secondary |
Secondary parkinson disease |
Pubtator |
37916889 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
15895552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
15895552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary Neoplasms |
Pituitary neoplasm |
Pubtator |
36750863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cerebellar ataxia |
Cerebellar Ataxia |
BEFREE |
12489043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
37466093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
28469558 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septic Toxemia |
Septic Toxemia |
GWASCAT_DG |
23551011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPINOCEREBELLAR ATAXIA 27 |
Spinocerebellar Ataxia |
UNIPROT_DG |
12489043 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPINOCEREBELLAR ATAXIA 27 |
Spinocerebellar Ataxia |
GENOMICS_ENGLAND_DG |
15470364, 16211615 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPINOCEREBELLAR ATAXIA 27 |
Spinocerebellar Ataxia |
BEFREE |
22579694, 24252256, 25566820, 30017992, 31729429 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPINOCEREBELLAR ATAXIA 27 |
Spinocerebellar Ataxia |
CTD_human_DG |
26089778 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar ataxia 27 |
Spinocerebellar ataxia |
Pubtator |
36207621, 37460234 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPINOCEREBELLAR ATAXIA 27 |
Spinocerebellar Ataxia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPINOCEREBELLAR ATAXIA 27 |
Spinocerebellar Ataxia |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar ataxia type 27 |
Spinocerebellar Ataxia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spinocerebellar Ataxias |
Spinocerebellar ataxia |
Pubtator |
37322040, 37907039, 39392764, 40191983, 40556471, 40579842 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Talipes valgus |
Talipes valgus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tremor |
Tremor |
Pubtator |
32162847, 37460234, 38487929, 40156335 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vestibular Diseases |
Vestibular disease |
Pubtator |
36493768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |