| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenocorticotropin deficient adrenal insufficiency |
Adrenocorticotropin deficient adrenal insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
BEFREE |
20231366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
UNIPROT_DG |
18439547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
ORPHANET_DG |
18439547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
GENOMICS_ENGLAND_DG |
18439547, 20231366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
BEFREE |
20231366, 25939713, 27077951 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANE syndrome |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine System Diseases |
BEFREE |
18439547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized amyotrophy |
Amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gynecomastia |
Gynecomastia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
18439547 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
20231366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoatrophy |
Lipoatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanocytic nevus |
Melanocytic nevus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Motor neuron atrophy |
Motor neuron atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Panhypopituitarism |
Panhypopituitarism |
BEFREE |
20231366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary Adrenal Insufficiency |
Adrenal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Somatotropin deficiency |
Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |