| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 1q44 microdeletion syndrome |
1q44 microdeletion syndrome |
ORPHANET_DG |
28283832 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 1q44 microdeletion syndrome |
1q44 microdeletion syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acute encephalopathy with biphasic seizures and late reduced diffusion |
Encephalopathy With Biphasic Seizures And Diffusion |
BEFREE |
29858110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
9815576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
29134320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
29671412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
29403425 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
29403425 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
31352174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
33168013 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
31352174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
33299500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
28714951 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
28714951, 29307321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
37815090 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Awakening Epilepsy |
Epilepsy |
CTD_human_DG |
29942082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
32915499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
20550696, 20595387, 28779344, 7829252, 8443798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
33495416, 36835467 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) |
Capillary Malformation-Arteriovenous Malformation |
BEFREE |
28530642 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
9815576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
29671412 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
37332045 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
31352174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
28969027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
24634123, 28944577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of the kidney |
Multicystic renal dysplasia |
BEFREE |
28393272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital malrotation of intestine |
Congenital malrotation of intestine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
28714951, 28944577, 33004838, 37120726, 37407733, 37815090 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ductal Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23347178 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ductal Carcinoma |
Ductal Carcinoma |
BEFREE |
23347178 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
20382278, 20795951, 21800092, 22678713, 23708187, 23934111, 25356899, 25533962, 25590979, 26845106, 28393272, 28815871, 28944577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
28283832, 28393272, 29858110 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
Pubtator |
28283832, 37120726, 37815090 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
CTD_human_DG |
29942082 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Cryptogenic |
Epilepsy |
CTD_human_DG |
29942082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
GENOMICS_ENGLAND_DG |
23708187, 23934111 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epileptic encephalopathy |
Epileptic encephalopathy |
CLINVAR_DG |
28815871 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epileptic encephalopathy |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
37120726 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 |
Epileptic encephalopathy |
GENOMICS_ENGLAND_DG |
23708187, 27652284 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 |
Epileptic encephalopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 |
Epileptic encephalopathy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
31469911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
31440166 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
31440166 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
10024672 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
20382278, 29858110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects |
Heart Septal Defects |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Horseshoe Kidney |
Horseshoe Kidney |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
32653137 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
28283832 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of optic disc |
Hypoplasia Of Optic Disc |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
24885232, 29858110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
22678713, 28283832, 28393272, 28944577 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
27652284 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
28283832, 28944577, 37120726, 37815090 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Invasive Ductal Breast Carcinoma |
Invasive Duct and Lobular Carcinoma |
BEFREE |
28779344 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lip and Oral Cavity Carcinoma |
Lip and Oral Cavity Carcinoma |
BEFREE |
10365117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
31331910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
20595387, 28779344, 8443798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
31331910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
9815576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
12671892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
12492499, 23950111, 28969027, 8287366, 8443798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
28969027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
22678713, 28283832, 28393272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mixed anxiety and depressive disorder |
Mixed Anxiety And Depressive Disorder |
BEFREE |
28058729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
36444596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucinous Adenocarcinoma |
Mucinous Adenocarcinoma |
BEFREE |
20550696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
31698570 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
31270100 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Neoplasms |
Nasopharyngeal carcinoma |
Pubtator |
31270100 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
11889215, 12492499, 12671892, 14610055, 23950111, 8287366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
32216806 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
28714951 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
29942082 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
12671892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Diseases |
Prostatic Diseases |
BEFREE |
18560202 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radial polydactyly |
Radial Polydactyly |
BEFREE |
24214579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
LHGDN |
19165527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
22678713, 28944577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
28393272, 29858110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spasms Infantile |
Infantile spasms |
Pubtator |
24885232 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
BEFREE |
28393272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
9815576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36444596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of lung |
Lung carcinoma |
BEFREE |
29228625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
35794744 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37923250, 37993881 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
36347834 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
35130920 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
34309414 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
24885232, 29858110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked infantile spasms |
Spasms X-Linked |
BEFREE |
28815871 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |