| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Absence of septum pellucidum |
Absence Of Septum Pellucidum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
25156775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
25156775 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
28864370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
BEFREE |
28363469 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
BEFREE |
10664446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30820959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
CTD_human_DG |
16020517 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
29330473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
29330473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
BEFREE |
29621420 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Sarcoma |
Gastrointestinal stromal tumor |
CTD_human_DG |
27793025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
CTD_human_DG |
27793025 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Generalized seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
31364126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
31364126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
29104277 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
28211985 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Holoprosencephaly |
Holoprosencephaly |
Pubtator |
30508070 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
21937992 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
BEFREE |
25125150 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
32878022 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Kidney Diseases |
Kidney Disease |
BEFREE |
11865082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
28864370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Malformation of cortical development |
CTD_human_DG |
16020517 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
25156775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26120938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mandibulofacial Dysostosis |
Mandibulofacial Dysostosis |
BEFREE |
7601448, 8838814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
Pubtator |
11535722 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental deficiency |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 |
Mental retardation |
GENOMICS_ENGLAND_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 |
Mental retardation |
UNIPROT_DG |
25125150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 |
Mental retardation |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
GWASDB_DG |
21211798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10828833, 21172016, 27237321, 28540720 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosis |
Nephrosis |
LHGDN |
14966466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound Mental Retardation |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Newborn |
Congenital alveolar dysplasia |
BEFREE |
10664446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
BEFREE |
28211985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
30876479 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salaam Seizures |
Salaam Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |