| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
8560986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
Amyloidosis |
BEFREE |
8560986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnoid Cysts |
Arachnoid cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
20589935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
28347229 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
32812493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
26043775 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chudley-Mccullough syndrome |
Chudley-Mccullough Syndrome |
GENOMICS_ENGLAND_DG |
20602914, 22578326, 8973305 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chudley-Mccullough syndrome |
Chudley-Mccullough Syndrome |
CLINGEN_DG |
20602914, 21348867, 22578326, 23494849, 26662512, 27180139, 28387217 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chudley-Mccullough syndrome |
Chudley-Mccullough Syndrome |
BEFREE |
22578326, 23494849, 27064331, 27180139, 28387217, 29799026 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chudley-Mccullough syndrome |
Chudley-Mccullough Syndrome |
CTD_human_DG |
22578326 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chudley-Mccullough syndrome |
Chudley-Mccullough Syndrome |
ORPHANET_DG |
22578326 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chudley-McCullough syndrome |
Chudley-Mccullough Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chudley-Mccullough syndrome |
Chudley-Mccullough Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
22578326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital sensorineural hearing loss |
Congenital Sensorineural Hearing Loss |
BEFREE |
27180139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
26043775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
21348867 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
29719397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgenesis of corpus callosum |
Dysplastic corpus callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslexia |
Dyslexia |
BEFREE |
29153326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
19888295 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
22578326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
22578326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis B |
Hepatitis b |
Pubtator |
28347229 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
26915683, 28347229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
35940821 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
20589935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
21897333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
26915683, 28347229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
28387217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuronal heterotopia |
Neuronal Heterotopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular Sclerosis Classical Hodgkin Lymphoma |
Classical Hodgkin lymphoma |
BEFREE |
22578326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
20602914, 22578326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial agenesis of corpus callosum |
Partial Agenesis Of Corpus Callosum |
BEFREE |
27064331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial agenesis of corpus callosum |
Partial Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
36601001 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychomotor Disorders |
Psychiatric disorders |
Pubtator |
19296131 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
26043775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
22578326, 27064331, 28387217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |