| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 1p31p32 microdeletion syndrome |
1p31p32 microdeletion syndrome |
ORPHANET_DG |
24462883 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 1p31p32 microdeletion syndrome |
1p31p32 microdeletion syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
BEFREE |
17353270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
22030051, 32926563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Allergic rhinitis (disorder) |
Allergic rhinitis |
BEFREE |
24560411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
33640202 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
37533101 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amyloidosis |
Amyloidosis |
BEFREE |
27430330, 31771065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
GWASCAT_DG |
29942085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety disorder |
Pubtator |
36814110 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold-Chiari Malformation, Type I |
Arnold-Chiari malformation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
27267730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
26895230 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
24560411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
20150379, 27810072, 37155843 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
27267730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
30721172 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy |
Atrophy |
Pubtator |
33640202 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
33431980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
24204716 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
GWASCAT_DG |
22925353 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar Disorder |
GWASDB_DG |
22925353 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
22925353, 27759212 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS |
Brain Malformations With Or Without Urinary Tract Defects |
GENOMICS_ENGLAND_DG |
17530927 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS |
Brain Malformations With Or Without Urinary Tract Defects |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS |
Brain Malformations With Or Without Urinary Tract Defects |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
28323865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
36035369, 36947439 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Celiac Disease |
Celiac disease |
GWASCAT_DG |
20190752, 25920553 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Celiac Disease |
Celiac disease |
GWASDB_DG |
20190752 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Celiac Disease |
Celiac disease |
Pubtator |
36814110 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
32926563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
30388402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of kidney |
Renal hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
BEFREE |
17353270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neurologic anomalies |
Drachtman Weinblatt Sitarz syndrome |
LHGDN |
17530927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neurologic anomalies |
Drachtman Weinblatt Sitarz syndrome |
BEFREE |
19763616 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
21771320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis marmorata |
Cutis marmorata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
22170863 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
32926563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
29070574 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
20847428, 31479861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
10518556, 17530927, 19058033, 19763616, 20673863, 22301465, 22542183, 24098143, 24267886, 24462883, 24657733, 27081522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
19763616 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Enterocolitis Necrotizing |
Enterocolitis |
Pubtator |
33932136 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
29577671 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Alzheimer Disease (FAD) |
Alzheimer disease |
BEFREE |
11557046 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
27994064, 31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
27994064, 28323865, 37155843 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
27994064, 31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
27994064, 28323865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
24462883 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
BEFREE |
17353270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
22030051, 32926563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy |
Hypertrophy |
Pubtator |
22030051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
19763616, 24462883 |
|
★★★★★★☆☆☆☆ 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 |
23948903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
17530927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
30388402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Promyelocytic Acute |
Promyelocytic leukemia |
Pubtator |
16325577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
29577671 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
19763616 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
19337254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
23852775 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metopic synostosis |
Metopic synostosis |
BEFREE |
24462883 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
Pubtator |
36814110 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
10518556, 17530927, 19058033, 19763616, 20673863, 22301465, 22542183, 24098143, 24267886, 24462883, 24657733, 27081522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
10518556, 17530927, 19058033, 19763616, 20673863, 22301465, 22542183, 24098143, 24267886, 24462883, 24657733, 27081522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
GWASCAT_DG |
27182965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16461008, 31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
10318786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatoses |
Neurofibromatosis |
BEFREE |
28644838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
BEFREE |
28644838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
21771320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
26895230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis |
Rhinitis |
BEFREE |
24560411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
36814110 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schwannomatosis |
Schwannomatosis |
BEFREE |
24443315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
29577671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
34917682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syringomyelia |
Syringomyelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
31502558 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |