| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
15495192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
26022158 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
15495192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
37849306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anhedonia |
Anhedonia |
Pubtator |
28554942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
28544275, 28554942, 31604776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Borderline Personality Disorder |
Borderline personality disorder |
BEFREE |
28767012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
25307264 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21104395, 26022559 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
40312366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Ataxia |
Cerebellar ataxia |
Pubtator |
28544275, 31463572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
BEFREE |
29339779, 31463572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
31463572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
15495192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
29074106 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital muscular dystrophy (disorder) |
Congenital muscular dystrophy |
BEFREE |
31130378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Deglutition disorder |
Pubtator |
31604776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
31604776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
29846174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal myopathy Nonaka type |
Distal myopathy |
Pubtator |
31604776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
29846174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperthyroidism |
Hyperthyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
29607163 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language Disorders |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
31589170 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
31604776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21104395, 26022559 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
30969006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
30072378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26022559, 27221886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
29074106 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
28487647 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
28544275, 28554942, 31463572 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
30684668 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
Pubtator |
31604776 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Multiple lipomata |
Multiple Lipomata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
31029779 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
BEFREE |
31463572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELOPROLIFERATIVE SYNDROME, TRANSIENT |
Myeloproliferative disorder |
BEFREE |
26451068, 30644090 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
28544275, 28554942, 30684668 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOPATHY, MITOCHONDRIAL, AND ATAXIA |
Mitochondrial myopathy |
GENOMICS_ENGLAND_DG |
28544275, 29339779 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOPATHY, MITOCHONDRIAL, AND ATAXIA |
Mitochondrial myopathy |
ORPHANET_DG |
28544275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOPATHY, MITOCHONDRIAL, AND ATAXIA |
Mitochondrial myopathy |
UNIPROT_DG |
28544275, 28554942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOPATHY, MITOCHONDRIAL, AND ATAXIA |
Mitochondrial myopathy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
27341628, 28197608, 28520570 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
28554942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular Diseases |
BEFREE |
28544275 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
9767613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic atrophy |
Pubtator |
37431816 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
BEFREE |
29978257 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
25307264 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
30072378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Stress Disorder |
Stress Disorder |
BEFREE |
28767012, 30053860, 31203176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
15495192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary physiologic amenorrhea |
Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cerebellar ataxia |
Cerebellar Ataxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cerebellar ataxia |
Cerebellar Ataxia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
23047795 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Receptive language delay |
Receptive language delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
29339779, 30684668, 31463572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
31463572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
30093562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis |
Scoliosis |
Pubtator |
31604776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe expressive language delay |
Expressive language delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thymoma |
Thymoma |
BEFREE |
9668102 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Visceral myopathy familial external ophthalmoplegia |
Visceral neuropathy |
Pubtator |
31463572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |