| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma Of Esophagus |
Esophageal Cancer |
BEFREE |
23222411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
22766032, 30553531 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Auditory neuropathy |
Auditory neuropathy |
Pubtator |
32022482 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
CLINVAR_DG |
20206331, 20920669, 21110228, 22633641, 22718020, 22824638 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
GENOMICS_ENGLAND_DG |
20206331, 20920669, 21110228 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
CLINGEN_DG |
20206331, 21110228, 22824638, 25462087, 26976849, 27272163, 28637675, 29053833 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
UNIPROT_DG |
20206331, 20920669, 21110228, 22273710, 22633641, 22718020, 22824638, 27702554 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
BEFREE |
22273710, 22633641, 22718020, 22740598, 22766032, 22864630, 23688382, 24079556, 26444347, 26918385, 26976849, 27702554, 29053833, 30553531, 31064337, 31500345 View all (1 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Brown-Vialetto-Van Laere Syndrome 1 |
Brown-Vialetto-Van Laere Syndrome |
ORPHANET_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Bulbar palsy |
Bulbar palsy |
BEFREE |
22864630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bulbar palsy |
Bulbar palsy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bulbar palsy |
Bulbar palsy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bulbar palsy |
Bulbar palsy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bulbar Palsy Progressive |
Bulbar palsy |
Pubtator |
20206331 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
22471455, 24761851, 26722538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
24260322 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
24260322 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
24761851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
31500345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Ataxia |
Cerebellar ataxia |
Pubtator |
35418370 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
24761851, 27584688 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical Intraepithelial Neoplasia |
Cervical Intraepithelial Neoplasia |
BEFREE |
24260322 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
27584688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Progressive Bulbar Palsy |
Progressive Bulbar Palsy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
20206331 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Insipidus |
Diabetes Insipidus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysautonomia |
Dysautonomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
22740598, 22824638, 23107375, 25462087, 26976849 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
22744421, 23222411, 27600099, 29428966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
GWASDB_DG |
20729853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
22744421, 27600099, 29428966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
29428966, 35549728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
22471455, 22865593, 27472962, 29428966, 35549728 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Esophagitis |
Esotropia |
Pubtator |
35549728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| External Ophthalmoplegia |
External Ophthalmoplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial multiple trichoepitheliomata |
Multiple Trichoepithelioma |
BEFREE |
23222411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fazio-Londe Syndrome |
Progressive Bulbar Palsy |
GENOMICS_ENGLAND_DG |
20206331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fazio-Londe Syndrome |
Progressive Bulbar Palsy |
BEFREE |
22633641 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fazio-Londe Syndrome |
Progressive Bulbar Palsy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Neoplasms |
Gastrointestinal neoplasm |
Pubtator |
22805490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
27584688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gynecomastia |
Gynecomastia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hallucinations |
Hallucinations |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
33109881, 35418370 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
35418370 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
BEFREE |
27272163 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
BEFREE |
27272163 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
30156861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
26176862 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
27472962, 35549728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
22744421, 27600099, 29428966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
22791947, 28220687 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27600099, 29428966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
27584688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor neuron disease |
Pubtator |
24139842 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
Multiple Acyl-CoA Dehydrogenase Deficiency |
BEFREE |
30982706 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
22791947, 23275236, 24260322, 27584688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
22864630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegeneration with brain iron accumulation (NBIA) |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness |
BEFREE |
30553531 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
26918385, 31500345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
26973221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic atrophy |
Pubtator |
33109881 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive bulbar palsy |
Bulbar palsy |
BEFREE |
22864630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive bulbar palsy |
Bulbar palsy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
GWASCAT_DG |
31562322 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RFVT3-related riboflavin transporter deficiency |
Riboflavin Transporter Deficiency |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Riboflavin Deficiency |
Riboflavin Deficiency |
BEFREE |
22231380, 27272163 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Riboflavin Deficiency |
Riboflavin deficiency |
Pubtator |
32022482, 34428344 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
22864630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea Syndromes |
Sleep Apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
23222411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
20729853, 22471455, 22533825, 23222411, 23275236, 24152165, 25045844, 25427582, 26154995, 27472962, 27584688, 29428966, 30666517 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
CTD_human_DG |
20729853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
22791947, 28220687 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
21427165, 22791947, 26176862, 26722538, 28220687, 32685482, 32888389 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
24761851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vocal Cord Paralysis |
Vocal Cord Paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |