| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aarskog syndrome |
Aarskog Syndrome |
BEFREE |
7810566 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
32614981, 32711556, 36384809, 37550416, 39380021 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anophthalmos |
Syndromic microphthalmia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anophthalmos with limb anomalies |
Anophthalmia |
Pubtator |
21194680, 30445150 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Aortic Valve Calcification of |
Aortic valve disease |
Pubtator |
33757126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arhinencephaly |
Arrhinencephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
21953607 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
15265232 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
32964046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcinosis |
Calcinosis |
Pubtator |
33757126 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
23246628 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Abnormalities |
Cardiovascular Abnormalities |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervical Intraepithelial Neoplasia |
Cervical Intraepithelial Neoplasia |
BEFREE |
19381629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
36345721 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular block |
Complete Atrioventricular Block |
BEFREE |
27895405 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis Atopic |
Atopic dermatitis |
Pubtator |
33484701 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatomyositis, Childhood Type |
Dermatomyositis |
BEFREE |
30227596 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
16014697 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalitis |
Encephalitis |
BEFREE |
28236279 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
30762207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
33498463, 36292695 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis C Chronic |
Hepatitis c |
Pubtator |
21182542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Horseshoe Kidney |
Horseshoe Kidney |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
17386346 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
38042639 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility |
Infertility |
Pubtator |
35663320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
8669446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratosis Follicularis |
Keratosis Follicularis |
BEFREE |
9529352 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
33562773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrodontia |
Macrodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development Group II |
Cortical development malformation |
Pubtator |
30445150 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
BEFREE |
30445150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
8669446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
Pubtator |
30445150 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmia with limb anomalies |
Microphthalmia with limb anomalies |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Microphthalmos |
Microphthalmos |
Pubtator |
30445150 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
28439713 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
7622300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osseous ankylosis |
Osseous Ankylosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
31799639 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
BEFREE |
23246628 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary Neoplasms |
Pituitary neoplasm |
Pubtator |
36686480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
GENOMICS_ENGLAND_DG |
21194680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polysyndactyly |
Polysyndactyly |
BEFREE |
8042663 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Postaxial foot polydactyly |
Foot Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
27418822 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
BEFREE |
21194678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of the toes |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
17541615, 24328427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tarsal Coalition |
Tarsal Coalition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
31067494 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigeminal Neuralgia |
Trigeminal neuralgia |
Pubtator |
38158702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulnar polydactyly of fingers |
Postaxial hand polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
21750680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urticaria |
Urticaria |
BEFREE |
28236279 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Venous Insufficiency |
Venous Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesicular Stomatitis |
Vesicular Stomatitis |
BEFREE |
23246628 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Waardenburg Anophthalmia Syndrome |
Microphthalmia with limb anomalies |
BEFREE |
21194678, 21750680, 23646827, 23703728, 28085523, 28807869, 30445150, 30586382, 31067494 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Waardenburg Anophthalmia Syndrome |
Microphthalmia with limb anomalies |
UNIPROT_DG |
21194678, 21194680, 21750680, 23646827 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Waardenburg Anophthalmia Syndrome |
Microphthalmia with limb anomalies |
GENOMICS_ENGLAND_DG |
21194678, 21194680 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Waardenburg Anophthalmia Syndrome |
Microphthalmia with limb anomalies |
CLINVAR_DG |
21194680, 23646827, 28085523 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Waardenburg Anophthalmia Syndrome |
Microphthalmia with limb anomalies |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Waardenburg Anophthalmia Syndrome |
Microphthalmia with limb anomalies |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |