| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
GWASCAT_DG |
30610198 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atypical glycine encephalopathy |
Glycine Encephalopathy |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CNS disorder |
CNS Disorder |
BEFREE |
16611082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital genu recurvatum |
Congenital genu recurvatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
26302655 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Temporal Lobe |
Epilepsy |
BEFREE |
26302655 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
19556729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
Pubtator |
19556729 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Flexion contracture - elbow |
Elbow flexion contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
CLINVAR_DG |
27481395, 27773429 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
GENOMICS_ENGLAND_DG |
27481395, 27773429 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
UNIPROT_DG |
27481395, 27773429 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hip Contracture |
Hip Contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
19556729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
18455219, 29499855 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile glycine encephalopathy |
Glycine Encephalopathy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
21628872 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
28086241 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
27221585 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
31230217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonketotic Hyperglycinemia |
Nonketotic Hyperglycinemia |
BEFREE |
27481395, 31230217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
17582620 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonorganic psychosis |
Nonorganic Psychosis |
PSYGENET_DG |
17582620 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
28086241 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
17582620 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psychotic Disorders |
Psychosis |
PSYGENET_DG |
17582620 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
16604304, 16611082, 18400471, 18638388, 26302655, 26691576, 27789188, 29338548, 29499855, 29969029, 30080045, 31118638 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
18400471, 18638388, 19824767, 20647165 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
LHGDN |
18638388 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
Pubtator |
18638388 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
28086241 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
28086241 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Overactive |
Overactive bladder |
Pubtator |
19556729 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |