| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
CTD_human_DG |
22113448 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anxiety States, Neurotic |
Anxiety Disorder |
CTD_human_DG |
22113448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
Pubtator |
28087732 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
37453880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23603342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37152370 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
29332336 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
30820140 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosome 1p36 Deletion Syndrome |
Chromosome 1p36 deletion syndrome |
Pubtator |
37946214 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
30881993, 34473751, 35192430 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
CLINVAR_DG |
27108799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
BEFREE |
17356515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
38280885 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Mastocytosis |
Cutaneous mastocytosis |
BEFREE |
29174093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cyclic neutropenia |
Cyclic neutropenia |
Pubtator |
34413458 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression, Neurotic |
Mental Depression |
CTD_human_DG |
22113448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
CTD_human_DG |
22113448 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Depressive Syndrome |
Mental Depression |
CTD_human_DG |
22113448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
27108799, 28087732, 32918542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
CLINVAR_DG |
27108799 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Endogenous depression |
Mental Depression |
CTD_human_DG |
22113448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
22706224 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
37453880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
27108799 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
BEFREE |
28087732, 31698099 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
28087732 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
31735425 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28087732 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
29667327, 32918542 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| L2 Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
27108799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
28650474 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
28650474 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
29332336 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
23603342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25485910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melancholia |
Melancholia |
CTD_human_DG |
22113448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
35871080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 |
Mental retardation |
UNIPROT_DG |
25485910, 27108799, 27668284, 28087732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 |
Mental retardation |
GENOMICS_ENGLAND_DG |
25529582, 27108799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 |
Mental retardation |
CLINVAR_DG |
30194818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 |
Mental retardation |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
31698570 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23603342, 25485910, 27108799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
27108799, 29174093 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nystagmus |
Nystagmus |
CLINVAR_DG |
27108799 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
Pubtator |
40127054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis imperfecta, Levin type |
Osteogenesis Imperfecta |
BEFREE |
28087732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
Pubtator |
37946214 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychomotor Disorders |
Psychiatric disorders |
Pubtator |
37453880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
Pubtator |
35193469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
LHGDN |
19110265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
27108799, 32918542, 37453880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spasms Infantile |
Infantile spasms |
Pubtator |
29667327, 35830182 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
CLINVAR_DG |
27108799 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Tonic - clonic seizures |
Seizure |
CLINVAR_DG |
27108799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unipolar Depression |
Mental Depression |
CTD_human_DG |
22113448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| West Syndrome |
West Syndrome |
BEFREE |
31735425 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |