| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Coronary Syndrome |
Coronary Syndrome |
CTD_human_DG |
21751358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
31508486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
32085672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
31377428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
27898717 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant macrothrombocytopenia |
Macrothrombocytopenia |
ORPHANET_DG |
18849486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant macrothrombocytopenia |
Macrothrombocytopenia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Ganglia Diseases |
Basal ganglia disease |
Pubtator |
40179460 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
33168801 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
33400601, 34516618 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Marrow Failure Disorders |
Bone marrow failure syndromes |
Pubtator |
36207145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Marrow Neoplasms |
Bone neoplasm |
Pubtator |
36207145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36627693 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
31508486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
25368985 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Restrictive |
Restrictive cardiomyopathy |
Pubtator |
36174041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
15956286, 17488662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
15956286, 17488662 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Artery Thrombosis |
Carotid artery thrombosis |
Pubtator |
15956286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Hemorrhage |
Cerebral hemorrhage |
Pubtator |
17488662 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
17488662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliary Motility Disorders |
Ciliary dyskinesia |
BEFREE |
10369922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
BEFREE |
28130172 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
24618180, 24762493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
36207145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
29427453, 30016746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Bone Marrow Failure Syndromes |
Congenital bone marrow failure syndrome |
Pubtator |
36207145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cataract |
Congenital Cataract |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital hypothyroidism |
Pubtator |
40071799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cortical Dysplasia |
Cortical Dysplasia |
BEFREE |
24860126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 |
Cortical Dysplasia With Other Brain Malformations |
UNIPROT_DG |
23246003 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 |
Cortical Dysplasia With Other Brain Malformations |
GENOMICS_ENGLAND_DG |
23246003, 26637975, 30016746 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 |
Cortical Dysplasia With Other Brain Malformations |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 |
Cortical Dysplasia With Other Brain Malformations |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
Pubtator |
33612478 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
23246003, 24833723, 26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
32085672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhage |
Hemorrhage |
Pubtator |
31389738 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhagic Stroke |
Hemorrhagic stroke |
Pubtator |
17488662 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
40603987 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
25937569, 33612478 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
25937569 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of nipple |
Hypoplasia Of Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
30738969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
35747986 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyosarcoma |
Leiomyosarcoma |
Pubtator |
36344048 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Localized neuroblastoma |
Neuroblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
12826311 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia |
Macrothrombocytopenia |
BEFREE |
18849486, 24344610, 31565851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia |
Macrothrombocytopenia |
CLINVAR_DG |
31064749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia |
Macrothrombocytopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
Macrothrombocytopenia |
UNIPROT_DG |
18849486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
Macrothrombocytopenia |
GENOMICS_ENGLAND_DG |
18849486, 24344610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
Macrothrombocytopenia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
Macrothrombocytopenia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Malformation of cortical development |
BEFREE |
24179174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Cortical development malformation |
Pubtator |
36207145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
31508486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
12467216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
12209587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
35929185 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
BEFREE |
29079997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental impairment |
Mental Depression |
BEFREE |
28130172 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Michelin tire baby syndrome |
Michelin Tire Baby Syndrome |
ORPHANET_DG |
26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
23246003, 28130172, 29427453, 30738969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
32085672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple benign circumferential skin creases on limbs |
Multiple Benign Circumferential Skin Creases On Limbs |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
23246003, 24833723, 26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenia Gravis |
Myasthenia gravis |
Pubtator |
18851734 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12467216, 31508486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
31508486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
37291167 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
36943460, 37718345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
25084203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
25084203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
BEFREE |
24860126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Ciliary Dyskinesia |
Ciliary dyskinesia |
BEFREE |
10369922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
30444038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
LHGDN |
19034380 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
BEFREE |
29143464 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
26743950 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 |
Skin Creases, Congenital Symmetric Circumferential |
GENOMICS_ENGLAND_DG |
26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 |
Skin Creases, Congenital Symmetric Circumferential |
UNIPROT_DG |
26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 |
Skin Creases, Congenital Symmetric Circumferential |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
32085672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombasthenia |
Thrombasthenia |
BEFREE |
31565851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombasthenia |
Thrombasthenia |
Pubtator |
31565851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocytopenia |
Thrombocytopenia |
Pubtator |
32892537, 34516618, 36207145 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocytopenia 1 |
Thrombocytopenia |
Pubtator |
37792884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombosis |
Thrombosis |
Pubtator |
17488662, 37647632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Dysgenesis |
Thyroid Dysgenesis |
BEFREE |
30446499 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wieacker syndrome |
Wieacker syndrome |
Pubtator |
27070589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |