| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
31395860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia, Spinocerebellar |
Spinocerebellar Ataxia |
BEFREE |
31422002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
18042273, 18211679, 27526934, 33522650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
32316190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
29428722, 31751911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholestasis of pregnancy |
Cholestasis of pregnancy |
BEFREE |
27871465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
30755640 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
GENOMICS_ENGLAND_DG |
31859446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
29474920, 30903679 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
32439920 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
31859446 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Infertility |
Infertility |
Pubtator |
29297114 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Breast Carcinoma |
Breast Cancer |
BEFREE |
18211679 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
31859446 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
29428722, 31751911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
15287981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30197756 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
30229827, 31395860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
29145611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
29145611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
29145611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
29145611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
29297114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
29428722, 31751911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
30833663 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
BEFREE |
29297114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
33985534 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
Pubtator |
35371093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPINOCEREBELLAR ATAXIA 47 |
Spinocerebellar Ataxia |
UNIPROT_DG |
29474920 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SPINOCEREBELLAR ATAXIA 47 |
Spinocerebellar Ataxia |
CLINVAR_DG |
29474920 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SPINOCEREBELLAR ATAXIA 47 |
Spinocerebellar Ataxia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Spinocerebellar Ataxia Type 1 |
Spinocerebellar Ataxia |
BEFREE |
25768905 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37469018 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subfertility |
Subfertility |
BEFREE |
29297114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
18211679 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
36161300 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |