| 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 |
| Autosomal Recessive Primary Microcephaly |
Microcephaly |
BEFREE |
22521416 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal Recessive Primary Microcephaly |
Primary microcephaly |
Pubtator |
22521416, 32677750 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal Recessive Primary Microcephaly |
Microcephaly |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal recessive primary microcephaly |
Microcephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30811267 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
30811267 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
25117815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
30531682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic retinopathy |
Pubtator |
22427569 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
33049985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30811267 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
22521416, 32677750, 35058575 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
Microcephaly |
GENOMICS_ENGLAND_DG |
22521416 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
Microcephaly |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
Microcephaly |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
36820950 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Neoplasms |
Nasopharyngeal carcinoma |
Pubtator |
36820950 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
26175310 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuronal heterotopia |
Neuronal Heterotopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary microcephaly |
Microcephaly |
BEFREE |
22521416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary microcephaly |
Microcephaly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proliferative diabetic retinopathy |
Proliferative Diabetic Retinopathy |
BEFREE |
30531682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
36435816 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Seckel syndrome |
Seckel Syndrome |
BEFREE |
30214071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome 1 |
Seckel syndrome |
Pubtator |
30214071 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
26175310 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
26175310 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unilateral agenesis of kidney |
Renal aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |