| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ALG9-CDG |
Congenital Disorder Of Glycosylation |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
36320054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
GWASCAT_DG |
30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
24568449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
BEFREE |
15148656, 15945070, 28932688 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
UNIPROT_DG |
15148656, 15945070 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
GENOMICS_ENGLAND_DG |
15148656, 25966638, 27604308, 31420886 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
Pubtator |
15148656, 23320427 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
BEFREE |
19451548, 25966638, 28742265, 28932688, 31420886 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
Pubtator |
25966638 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Heart Defects |
Congenital heart defects |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Kidney Diseases |
Cystic Kidney Disease |
GENOMICS_ENGLAND_DG |
31395617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic liver disease |
Cystic liver disease |
GENOMICS_ENGLAND_DG |
31395617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of skull ossification |
Defect Of Skull Ossification |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
15148656 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial paroxysmal dystonia |
Paroxysmal dystonia |
Pubtator |
32398770 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Galactosemias |
Galactosemia |
BEFREE |
26733289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gilles de la Tourette syndrome |
Tourette Syndrome |
BEFREE |
12030331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
15148656 |
|
★★★★★★☆☆☆☆ 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 |
| Hepatomegaly |
Hepatomegaly |
Pubtator |
15148656 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis, Non-Immune |
Hydrops Fetalis |
BEFREE |
31420886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25966638, 36320054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
31395617 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases Cystic |
Kidney disease |
Pubtator |
36573973 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesatipellic pelvis |
Mesatipellic Pelvis |
CLINVAR_DG |
25966638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
25966638 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroendocrine Tumors |
Neuroendocrine Tumors |
BEFREE |
19197975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
17720908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
25966638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pericardial effusion |
Pericardial effusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Autosomal Dominant |
Polycystic kidney disease |
Pubtator |
31395617, 37761895 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Disease Potter Type I with Microbrachycephaly Hypertelorism and Brachymelia |
Polycystic kidney disease |
Pubtator |
25966638 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia |
Polycystic kidney disease with Microbrachycephaly, Hypertelorism, and Brachymelia |
GENOMICS_ENGLAND_DG |
15148656, 25966638 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia |
Polycystic kidney disease with Microbrachycephaly, Hypertelorism, and Brachymelia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia |
Polycystic kidney disease with Microbrachycephaly, Hypertelorism, and Brachymelia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Kidney Diseases |
Polycystic kidney disease |
CLINVAR_DG |
25966638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Diseases |
Polycystic kidney disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney, Autosomal Dominant |
Polycystic kidney disease |
GENOMICS_ENGLAND_DG |
31395617 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic liver disease |
Polycystic liver disease |
GENOMICS_ENGLAND_DG |
31395617 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic liver disease |
Polycystic liver disease |
Pubtator |
31395617, 37761895 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
17720908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
12030331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
15148656 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
25966638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |