| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Ataxia Telangiectasia |
Ataxia Telangiectasia |
BEFREE |
23524341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia, Spinocerebellar |
Spinocerebellar Ataxia |
BEFREE |
15744309, 17889645, 20687496, 23524341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
Pubtator |
40368527 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
35589867, 38369265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37858061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
38369265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
36401332 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Catel Manzke syndrome |
Catel Manzke Syndrome |
BEFREE |
22887726 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE |
Chondrodysplasia With Joint Dislocations |
BEFREE |
22887726 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital genu recurvatum |
Congenital genu recurvatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
31102300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DESBUQUOIS DYSPLASIA 1 |
Desbuquois Dysplasia |
UNIPROT_DG |
19853239, 20425819, 21037275, 21412251, 21654728, 22539336 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| DESBUQUOIS DYSPLASIA 1 |
Desbuquois Dysplasia |
CLINVAR_DG |
21037275, 21654728 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| DESBUQUOIS DYSPLASIA 1 |
Desbuquois Dysplasia |
GENOMICS_ENGLAND_DG |
27881841 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| DESBUQUOIS DYSPLASIA 1 |
Desbuquois Dysplasia |
BEFREE |
30439444 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Desbuquois syndrome |
Desbuquois Syndrome |
BEFREE |
19853239, 20425819, 21037275, 21412251, 22539336, 22887726, 24581741, 25486376, 27881841, 28462984, 28742282, 30847897, 31587486 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Desbuquois syndrome |
Desbuquois syndrome |
Pubtator |
19853239, 21654728, 22539336, 24581741, 31988067, 32907608, 40368527 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Desbuquois syndrome |
Desbuquois Syndrome |
ORPHANET_DG |
22539336 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Desbuquois syndrome |
Desbuquois Syndrome |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Desbuquois syndrome |
Desbuquois Syndrome |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epiphyseal dysplasia |
Epiphyseal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 |
Epiphyseal dysplasia |
UNIPROT_DG |
28742282 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 |
Epiphyseal dysplasia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 |
Epiphyseal dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
38369265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty liver |
Pubtator |
38034016 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma of childhood |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
36401332 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Ventricular |
Congenital heart septal defect |
Pubtator |
40368527 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrophthalmos |
Glaucoma, congenital |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
BEFREE |
21654728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops fetalis |
Pubtator |
21654728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Larsen Syndrome |
Larsen syndrome |
Pubtator |
24755949 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
18451133, 31703155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15744309 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
35871080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
BEFREE |
31587486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
23524341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
21037275, 22539336, 25486376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Epiphyseal Dysplasia |
Multiple Epiphyseal Dysplasia |
BEFREE |
28742282 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
17889645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
15744309, 25609251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasias |
Pubtator |
24755949, 28742282 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
18451133, 31703155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Intraepithelial Neoplasia |
Prostatic intraepithelial neoplasia |
Pubtator |
21435463 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
21435463, 35871080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radioulnar Synostosis |
Radioulnar Synostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
38369265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar ataxia autosomal recessive 1 |
Spinocerebellar ataxia |
Pubtator |
19505854 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar ataxia with axonal neuropathy type 1 |
Spinocerebellar Ataxia, With Axonal Neuropathy |
BEFREE |
31182267 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 |
Spinocerebellar Ataxia |
BEFREE |
17889645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondyloepiphyseal Dysplasia |
Spondyloepiphyseal dysplasia |
BEFREE |
24755949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondyloepiphyseal dysplasia, congenita |
Spondyloepiphyseal dysplasia congenita |
BEFREE |
24755949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
22887726 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
38369265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal Melanoma |
BEFREE |
28330694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |