| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2-3 toe syndactyly |
Syndactyly Of The Toes |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
BEFREE |
22027810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia Areata |
Alopecia Areata |
BEFREE |
22027810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
30552426 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease, Type Ia (disorder) |
Charcot-Marie-Tooth disease |
GWASCAT_DG |
30706531 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital sensorineural hearing loss |
Congenital Sensorineural Hearing Loss |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
26299366, 35354024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
27246907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
GENOMICS_ENGLAND_DG |
25529582, 26299366, 28293831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
CLINVAR_DG |
26299366, 27246907, 27683084, 28293831, 28513609 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
ORPHANET_DG |
26299366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
UNIPROT_DG |
26299366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
BEFREE |
28293831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
28293831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
30552426 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroparesis |
Gastroparesis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
29343804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
26299366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
26299366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
40603987 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
Pubtator |
32126996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunoglobulin A deficiency (disorder) |
Immunoglobulin A deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility |
Infertility |
Pubtator |
31838782 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
26299366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
26299366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
GWASCAT_DG |
24797007 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
GWASDB_DG |
24797007 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
BEFREE |
26299366, 27246907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
26299366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
29343804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29343804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
GWASCAT_DG |
31095341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
CTD_human_DG |
21822266 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
26299366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
28293831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotypical hand wringing |
Stereotypy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
26299366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |