| 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 |
| Adult type dermatomyositis |
Dermatomyositis |
BEFREE |
25903820, 31779485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AL-RAQAD SYNDROME |
AL-Raqad Syndrome |
UNIPROT_DG |
25701870, 25712129 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AL-RAQAD SYNDROME |
AL-Raqad Syndrome |
GENOMICS_ENGLAND_DG |
25712129 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AL-RAQAD SYNDROME |
AL-Raqad Syndrome |
BEFREE |
30289615 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AL-RAQAD SYNDROME |
AL-Raqad Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AL-RAQAD SYNDROME |
AL-Raqad Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Aniridia |
Aniridia |
BEFREE |
27929720 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Antisynthetase syndrome |
Antithrombin deficiency |
Pubtator |
28586844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
27612429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
19747768, 24510587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
36478716 |
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 |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
20920668, 27008886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrosarcoma |
Chondrosarcoma |
BEFREE |
30737713 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
38064867 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective Tissue Disease |
BEFREE |
28461123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniofacial Abnormalities |
Craniofacial abnormalities |
Pubtator |
25712129 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
14506129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatomyositis |
Dermatomyositis |
BEFREE |
25903820, 31779485 |
|
★★★★★★☆☆☆☆ 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 |
| Erythrokeratoderma |
Erythrokeratoderma |
BEFREE |
15909066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Excessive tearing |
Excessive Tearing |
BEFREE |
27929720 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
28461123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25701870, 25712129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25701870, 25712129 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
BEFREE |
16865292 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
35749470 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
29478914, 29533777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
BEFREE |
30715177 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases, Interstitial |
Lung Diseases |
BEFREE |
28461123, 30647164, 30851107, 31631384, 31779485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
19747768, 24510587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29533777, 31779485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meleda Disease |
Meleda Disease |
BEFREE |
11872406, 12535203, 14674887, 15909066, 16865292 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
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 |
| Muscular Atrophy Spinal |
Spinal muscular atrophy |
Pubtator |
18839960, 26001796 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myositis |
Myositis |
Pubtator |
28586844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myositis |
Myositis |
BEFREE |
31779485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19747768 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular disease |
Pubtator |
25712129 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
BEFREE |
31526203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parathyroid Neoplasms |
Parathyroid neoplasm |
Pubtator |
38509667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
23465884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymyositis |
Polymyositis |
BEFREE |
25903820 |
|
★★★★★★☆☆☆☆ 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 |
| SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
Spastic Ataxia |
BEFREE |
30144656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophy |
Spinal Muscular Atrophy |
BEFREE |
28257199, 28945765, 30858142 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |