| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 3-phosphoserine phosphatase deficiency, infantile/juvenile form |
3-phosphoserine phosphatase deficiency |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
15154633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of prostate |
Prostate adenocarcinoma |
BEFREE |
15727931 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amino Acid Metabolism, Inborn Errors |
Disorder of amino acid metabolism |
CTD_human_DG |
14673469 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amino Acid Metabolism, Inherited Disorders |
Inherited Errors of Amino Acid Metabolism |
CTD_human_DG |
14673469 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
24069258 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
29419656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
29419656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention Deficit Disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
10532621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
10532621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autonomic nervous system disorders |
Autonomic Central Nervous System Diseases |
BEFREE |
31216016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
BEFREE |
28343053 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24979213, 25496516, 26109344, 29228969 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ductal |
Ductal carcinoma |
Pubtator |
25053597 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30176945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Lobular |
Lobular carcinoma |
Pubtator |
25053597 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Medullary |
Medullary carcinoma |
Pubtator |
27277113 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
31446747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
27349874, 28476802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
22276153, 24146633, 34201061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Corticobasal degeneration |
Corticobasal Degeneration |
BEFREE |
14502653, 15641585, 28207803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deficiency of phosphoserine phosphatase |
Deficiency Of Phosphoserine Phosphatase |
UNIPROT_DG |
14673469 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Deficiency of phosphoserine phosphatase |
Deficiency Of Phosphoserine Phosphatase |
GENOMICS_ENGLAND_DG |
14673469, 24816252, 25152457 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Deficiency of phosphoserine phosphatase |
Deficiency Of Phosphoserine Phosphatase |
ORPHANET_DG |
14673469 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Deficiency of phosphoserine phosphatase |
Deficiency Of Phosphoserine Phosphatase |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Deficiency of phosphoserine phosphatase |
Deficiency Of Phosphoserine Phosphatase |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Dementia |
Dementia |
BEFREE |
14502653 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
28343053 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deuteranomaly |
Deuteranomaly |
BEFREE |
15641585 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
28568564, 30914711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
28568564, 30914711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysautonomia |
Dysautonomia |
BEFREE |
31216016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophagitis |
Esophagitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ewings sarcoma |
Ewing sarcoma |
BEFREE |
29672864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fanconi Anemia |
Fanconi Anemia |
BEFREE |
9573387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Anemia |
BEFREE |
9573387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Alcoholic |
Fatty liver, alcoholic |
Pubtator |
24419221 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal dementia |
Frontotemporal dementia |
BEFREE |
23254636, 24086739, 28501823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Lobar Degeneration |
Frontotemporal dementia |
BEFREE |
31191295 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
38098117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
37812589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis C |
Hepatitis c |
Pubtator |
29228969 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperuricemia |
Hyperuricemia |
BEFREE |
31091873 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
37823569 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
26916334, 28467028 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
37812589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy Body Disease |
BEFREE |
15101498 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
31446747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
23484134 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
15154633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26109344, 30240355 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
28500236 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Depression |
Mental Depression |
BEFREE |
28343053 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
BEFREE |
31216016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
15154633, 15727931, 24069258, 26109344 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
28467028, 30726566 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEU-LAXOVA SYNDROME 1 |
Neu-Laxova Syndrome |
GENOMICS_ENGLAND_DG |
25152457 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
30977310 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonalcoholic Steatohepatitis |
Non-alcoholic Fatty Liver Disease |
BEFREE |
24419221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
37533289 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
20083340, 27614955, 29157745, 29463454, 30068492, 31299107 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PARKINSON DISEASE, LATE-ONSET |
Parkinson disease |
BEFREE |
28150443, 28714593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peritonitis |
Peritonitis |
Pubtator |
15154633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pick Disease of the Brain |
Pica |
BEFREE |
15641585, 24086739, 31191295 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PNEUMOTHORAX, PRIMARY SPONTANEOUS |
Pneumothorax |
BEFREE |
24121548, 28500751, 30399478, 30955098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
14502653 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary hyperoxaluria type 1 |
Hyperoxaluria |
Pubtator |
24419221, 25152457, 32077105, 37812589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Progressive Aphasia (disorder) |
Aphasia |
BEFREE |
23254636 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive supranuclear palsy |
Progressive Supranuclear Palsy |
BEFREE |
14502653, 15101498, 16000317, 24121548, 27614955, 28467028, 28500751, 28951832, 29157745, 29463454, 29801913, 30068492, 30158953, 30399478, 30726566, 30955098, 31191295 View all (2 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
23484134 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
BEFREE |
28374985, 29705767 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rectal Prolapse |
Rectal Prolapse |
BEFREE |
28374985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
10532621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
31621373 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea Obstructive |
Sleep apnea |
Pubtator |
20093640 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
BEFREE |
20093640 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spontaneous pneumothorax |
Spontaneous pneumothorax |
BEFREE |
28386166 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ST segment elevation myocardial infarction |
ST Segment Elevation Myocardial Infarction |
BEFREE |
30398966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
15154633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
15154633, 34979926 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tauopathies |
Tauopathies |
BEFREE |
14502653, 15641585, 24086739, 28500751, 31191295 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
27277113 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
27277113 |
Associate |
★★★★★★☆☆☆☆ 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 |
24390667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vertical supranuclear gaze palsy |
Supranuclear gaze palsy |
BEFREE |
30068492 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolfram Syndrome |
Wolfram Syndrome |
BEFREE |
30914711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |