| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aarskog syndrome |
Aarskog Syndrome |
BEFREE |
28450305, 30817990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Addison Disease |
Addison`s Disease |
BEFREE |
29685115, 30517686, 31610036 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenylosuccinate lyase deficiency |
Adenylosuccinate lyase deficiency |
Pubtator |
29685115 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal calcification |
Adrenal calcification |
BEFREE |
28181337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
24468113, 29615132 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
17373700 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
30318528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
31053784 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
30318528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
11547832 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
32855188 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29718989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
29718989 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26886371 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
26485657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
25347472, 30816345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
30816345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
20068171, 32630435 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
29501407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ichthyosis |
Congenital Ichthyosis |
BEFREE |
28450305 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse mesangial sclerosis (disorder) |
Mesangial sclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
29601606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
29950865 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
22277765 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
22277765 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Glucocorticoid Deficiency 1 |
Glucocorticoid deficiency |
Pubtator |
30517686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
GENOMICS_ENGLAND_DG |
28165343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glucocorticoid Deficiency 2 |
Glucocorticoid deficiency |
Pubtator |
30517686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glucocorticoid deficiency with achalasia |
Glucocorticoid Deficiency With Achalasia |
BEFREE |
30517686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington Disease |
BEFREE |
28931805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
BEFREE |
29501407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
29601606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoalbuminemia |
Hypoalbuminemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocalcemia |
Hypocalcemia |
Pubtator |
38204317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
Pubtator |
30517686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
BEFREE |
28181337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
Pubtator |
38204317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
GENOMICS_ENGLAND_DG |
28165339 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
BEFREE |
28450305 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosis |
Ichthyosis |
Pubtator |
38204317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inborn Errors of Metabolism |
Inborn Errors Of Metabolism |
BEFREE |
30635364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
BEFREE |
28450305 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
30517686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
15886300 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphopenia |
Lymphopenia |
BEFREE |
19119317 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphopenia |
Lymphopenia |
GENOMICS_ENGLAND_DG |
28165343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphopenia |
Lymphopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29718989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
29950865 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29718989, 30318528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
30816345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
32855188 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
26433934, 28930429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
26433934, 28930429 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
22784711, 25347472, 30816345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosis |
Nephrosis |
BEFREE |
30635364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosis congenital |
Nephrotic syndrome |
Pubtator |
38204317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosis, congenital |
Nephrosis, Congenital |
BEFREE |
28181337, 29501407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
BEFREE |
28165339, 30517686, 30635364 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephrotic Syndrome |
Nephrotic syndrome |
Pubtator |
29685115, 30517686, 32855188, 38204317, 39755650 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephrotic Syndrome |
Nephrotic Syndrome |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| NEPHROTIC SYNDROME, TYPE 14 |
Nephrotic Syndrome |
ORPHANET_DG |
24777844, 28181337, 28218265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEPHROTIC SYNDROME, TYPE 14 |
Nephrotic Syndrome |
UNIPROT_DG |
28165339, 28165343, 28181337, 30090628 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEPHROTIC SYNDROME, TYPE 14 |
Nephrotic Syndrome |
GENOMICS_ENGLAND_DG |
28165343, 28181337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEPHROTIC SYNDROME, TYPE 14 |
Nephrotic Syndrome |
BEFREE |
30090628 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEPHROTIC SYNDROME, TYPE 14 |
Nephrotic Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
28521611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
29501407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
26485657 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
29940125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
Pubtator |
31455837 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma Alveolar |
Rhabdomyosarcoma |
Pubtator |
31455837 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
30517686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sepsis |
Sepsis |
Pubtator |
39755650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sirenomelia |
Sirenomelia |
BEFREE |
29718989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
27160553 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steroid resistant nephrotic syndrome of childhood |
Steroid resistant nephrotic syndrome |
BEFREE |
28165339, 28165343, 29685115, 30517686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steroid resistant nephrotic syndrome of childhood |
Steroid resistant nephrotic syndrome |
GENOMICS_ENGLAND_DG |
28165343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |