| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2-3 toe syndactyly |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal Hyperplasia Congenital |
Congenital adrenal hyperplasia |
Pubtator |
12940459 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
28120837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
28120837 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atkin syndrome |
Atkin-Flaitz syndrome |
CLINGEN_DG |
10471494, 16470793, 18801879, 19012350, 24680889, 28576939 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atkin syndrome |
Atkin-Flaitz syndrome |
GENOMICS_ENGLAND_DG |
19012350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atkin syndrome |
Atkin-Flaitz syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
20479760, 25305082 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
CTD_human_DG |
20479760 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
20479890, 21491612, 23613341, 23785489, 25305082, 30548231 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
18801879, 20437600, 20479890, 21384559, 21926414, 23785489 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
CTD_human_DG |
18801879, 20437600 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
31018956, 31387327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
31018956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
18253029 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
LHGDN |
18253029 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchopulmonary Dysplasia |
Bronchopulmonary Dysplasia |
GWASDB_DG |
21836138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
GWASCAT_DG |
20838585 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coffin-Lowry syndrome |
Coffin-Lowry Syndrome |
BEFREE |
8826457 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
28576939 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex Glycerol Kinase Deficiency |
Complex Glycerol Kinase Deficiency |
BEFREE |
15300857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
21933724, 25305082 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
21271657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of adrenal gland |
Congenital adrenal hypoplasia |
BEFREE |
12940459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Contiguous gene syndrome |
Contiguous gene syndrome |
BEFREE |
12940459, 21271657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive Disorder Major |
Major depressive disorder |
Pubtator |
27440233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
27761175 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
31018956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
21933724 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
BEFREE |
21484992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulonephritis IGA |
Iga nephropathy |
Pubtator |
22318827 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
21926414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
10757639, 12940459, 14610352, 15300857, 16118346, 16470793, 18801879, 21484992, 21933724, 22456342, 23613341, 23785489, 25305082, 26290131, 27470653, 28576939, 30103804, 30548231 View all (3 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
10882729, 12940459, 21933724, 22456342, 25305082, 30103804, 33774333, 34452636 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
27988500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28882220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
28533483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel Diverticulum |
Meckel Diverticulum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
CTD_human_DG |
22535842 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| melanoma |
Melanoma |
BEFREE |
27988500 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Retardation |
Mental retardation |
BEFREE |
10757639, 12940459, 14610352, 15300857, 16118346, 18801879, 22456342, 23785489 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Retardation, X-Linked |
Mental retardation |
BEFREE |
15300857, 1605217, 16221525, 16470793, 19012350, 21384559, 21926414, 23785489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
CTD_human_DG |
18801879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
LHGDN |
19012350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked 1 |
Mental Retardation, X-Linked |
ORPHANET_DG |
16470793, 19012350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked 1 |
Mental Retardation, X-Linked |
BEFREE |
19012350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked 19 |
Mental Retardation, X-Linked |
BEFREE |
8826457 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 34 (disorder) |
Mental retardation |
CLINGEN_DG |
10471494, 16470793, 18801879, 19012350, 24680889, 28576939 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
BEFREE |
12428212, 23613341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild neurosensory hearing impairment |
Neurosensory Hearing impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood Disorders |
Mood disorder |
Pubtator |
27440233 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
23613341, 23785489, 25305082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
31376255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
20479760 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Schizophrenia and related disorders |
Schizophrenia |
BEFREE |
21982423 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia and related disorders |
Schizophrenia |
PSYGENET_DG |
21982423 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitiligo |
Vitiligo |
GWASCAT_DG |
27723757 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| X-linked Adrenal Hypoplasia |
Adrenal Hypoplasia, X-Linked |
BEFREE |
12940459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability, X-Linked |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |