| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
BEFREE |
24677762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 1 |
Lateral Sclerosis |
BEFREE |
10077670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Rupture |
Aortic rupture |
Pubtator |
31949249 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atlantoaxial instability |
Atlantoaxial abnormality |
BEFREE |
27149304 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
28731139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
27131312, 27931282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
28731139 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
28731139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
31802914 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
35833665 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
BEFREE |
24677762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital muscular dystrophy (disorder) |
Congenital muscular dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective Tissue Disease |
BEFREE |
27149304 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
31063316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ehlers-Danlos Syndrome |
Ehlers-Danlos Syndrome |
BEFREE |
22265013, 24677762, 24773188, 27149304, 27905128, 30561154 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Ehlers-Danlos syndrome type 6 |
Ehlers-Danlos Syndrome |
GENOMICS_ENGLAND_DG |
27149304 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
BEFREE |
22265013, 25111118 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
ORPHANET_DG |
22265013 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
GENOMICS_ENGLAND_DG |
22265013, 27149304 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
CLINVAR_DG |
22265013, 24677762, 27149304, 28617417 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Epiphyseal dysplasia multiple 1 |
Epiphyseal dysplasia |
Pubtator |
24272907 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
22265013, 28617417, 31063316, 31949249 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
22265013 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| High-frequency sensorineural hearing impairment |
High-frequency sensorineural hearing impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kohlschutter Tonz syndrome |
Kohlschutter syndrome |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
Kyphoscoliotic Ehlers-Danlos Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Larsen Syndrome |
Larsen syndrome |
Pubtator |
37433679 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
27131312, 27931282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
28454471 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27131312, 27931282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
28731139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis IV |
Mucopolysaccharidosis |
BEFREE |
24773188 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
28617417, 30561154 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
27223089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
27223089, 29364473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
29364473 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
27131312, 27931282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
27131312 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phrynoderma |
Phrynoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rupture of artery |
Rupture Of Artery |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
22265013 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
28617417, 31949249 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28454471 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracolumbar scoliosis |
Thoracolumbar scoliosis |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |