| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anophthalmos with limb anomalies |
Anophthalmia |
Pubtator |
31784481 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
39684297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosomal Instability |
Chromosomal instability |
Pubtator |
28191891 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
CTD_human_DG |
25944804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
CTD_human_DG |
25944804 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital dislocation of radial head |
Dislocated radial head |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of radius |
Congenital Hypoplasia Of Radius |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
28019128 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
CTD_human_DG |
28191891 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dwarfism |
Dwarfism |
BEFREE |
31407851 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dwarfism |
Dwarfism |
Pubtator |
31407851 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Fanconi Anemia |
Fanconi Anemia |
BEFREE |
29760432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fanconi Anemia |
Fanconi anemia |
Pubtator |
29760432 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Anemia |
BEFREE |
29760432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
32016978 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
29760432, 31320746, 31407851, 31784481 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphangioma, Cystic |
Cystic hygroma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
32016978 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30922402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
28191891, 31407851 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Microcephaly |
Microcephaly |
CTD_human_DG |
28191891 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Microcephaly |
Microcephaly |
Pubtator |
29760432, 31320746, 31407851, 31784481 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES |
Microcephaly-Short Stature-Limb Abnormalities Syndrome |
UNIPROT_DG |
28191891 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES |
Microcephaly-Short Stature-Limb Abnormalities Syndrome |
GENOMICS_ENGLAND_DG |
28191891, 28630177 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES |
Microcephaly-Short Stature-Limb Abnormalities Syndrome |
BEFREE |
31320746, 31407851 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES |
Microcephaly-Short Stature-Limb Abnormalities Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Microcephaly-Micromelia Syndrome |
Microcephaly-Micromelia Syndrome |
GENOMICS_ENGLAND_DG |
28191891, 28630177 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly-micromelia syndrome |
Microcephaly-Micromelia Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly-Micromelia Syndrome |
Microcephaly-Micromelia Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly-short stature-limb abnormalities syndrome |
Microcephaly-Short Stature-Limb Abnormalities Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Micrognathism |
Micrognathism |
BEFREE |
31407851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
Pubtator |
31407851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microlissencephaly |
Microlissencephaly |
CTD_human_DG |
28191891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
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 |
| Oligodactyly |
Oligodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
GWASCAT_DG |
25854761 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Radioulnar Synostosis |
Radioulnar Synostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ramer Ladda syndrome |
Ramer Ladda Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
BEFREE |
29760432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome 1 |
Seckel syndrome |
Pubtator |
28191891, 29760432, 31407851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Congenital Microcephaly |
Congenital Microcephaly |
CTD_human_DG |
28191891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
30922402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |