| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alobar Holoprosencephaly |
Alobar Holoprosencephaly |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alobar holoprosencephaly |
Alobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anophthalmia with pulmonary hypoplasia |
Anophthalmia |
Pubtator |
32799327 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of kidneys syndrome |
Renal agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
BEFREE |
31502381 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cyclocephaly |
Cyclocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Insipidus |
Diabetes Insipidus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Duodenal atresia |
Duodenal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Sarcoma |
Gastrointestinal stromal tumor |
CTD_human_DG |
27793025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
CTD_human_DG |
27793025 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
34235642 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Holoprosencephaly |
Holoprosencephaly |
LHGDN |
12620190 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
BEFREE |
21802063, 21995818, 22326621, 26529631, 31502381 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
GENOMICS_ENGLAND_DG |
21802063 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
Pubtator |
21995818, 34235642 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HOLOPROSENCEPHALY 11 |
Holoprosencephaly |
GENOMICS_ENGLAND_DG |
21802063 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HOLOPROSENCEPHALY 11 |
Holoprosencephaly |
UNIPROT_DG |
21802063 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HOLOPROSENCEPHALY 11 |
Holoprosencephaly |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HOLOPROSENCEPHALY 11 |
Holoprosencephaly |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopituitarism |
Hypopituitarism |
BEFREE |
27974186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Hypogonadotropic Hypogonadism |
Hypogonadotropic hypogonadism |
Pubtator |
33208564 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Interfrontal craniofaciosynostosis |
Interfrontal Craniofaciosynostosis |
BEFREE |
16526918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kartagener Syndrome |
Kartagener Syndrome |
BEFREE |
16397065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
GWASCAT_DG |
31178898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lobar Holoprosencephaly |
Lobar Holoprosencephaly |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lobar holoprosencephaly |
Lobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
21849809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metopic synostosis |
Metopic synostosis |
BEFREE |
16526918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microform holoprosencephaly |
Microform Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Midline interhemispheric variant of holoprosencephaly |
Midline Interhemispheric Variant Of Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
39972314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Panhypopituitarism |
Panhypopituitarism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary stalk interruption syndrome |
Pituitary Stalk Interruption Syndrome |
BEFREE |
26529631 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Pituitary stalk interruption syndrome |
Pituitary Stalk Interruption Syndrome |
ORPHANET_DG |
26529631 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Polysplenia |
Polysplenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Ciliary Dyskinesia |
Ciliary dyskinesia |
BEFREE |
16397065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary physiologic amenorrhea |
Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
21849809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Semilobar Holoprosencephaly |
Semilobar Holoprosencephaly |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Semilobar holoprosencephaly |
Semilobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Septo-Optic Dysplasia |
Septo-Optic Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septopreoptic holoprosencephaly |
Septopreoptic Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Situs Inversus |
Situs Inversus |
BEFREE |
16397065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
Fused incisors |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tetralogy of Fallot |
Tetralogy of Fallot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
BEFREE |
16526918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |