| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Achondrogenesis type 1A |
Achondrogenesis |
ORPHANET_DG |
20089971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis type 1A |
Achondrogenesis |
GENOMICS_ENGLAND_DG |
20089971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis type 1A |
Achondrogenesis |
CLINVAR_DG |
20089971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis type 1A |
Achondrogenesis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis type 1A |
Achondrogenesis |
BEFREE |
29180569 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis type 1A |
Achondrogenesis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acromelia |
Acromelia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
29022645 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital genu recurvatum |
Congenital genu recurvatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of clavicle |
Short clavicles |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of radius |
Congenital Hypoplasia Of Radius |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of skull ossification |
Defect Of Skull Ossification |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dentinogenesis Imperfecta |
Dentinogenesis Imperfecta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
BEFREE |
29025582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gross motor development delay |
Developmental delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis B |
Hepatitis b |
Pubtator |
30518689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hernia, Femoral |
Hernia, Femoral |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension, Goldblatt |
Hypertension |
ORPHANET_DG |
30728324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of lower limb |
Hypoplasia Of Lower Limb |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
29022645 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
29022645 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
9373237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
9373237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
9373237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
26635082 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphangioma, Cystic |
Cystic hygroma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of kidney |
Kidney Cancer |
BEFREE |
29022645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal hypoglycemia |
Hypoglycemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29022645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Odontochondrodysplasia |
Odontochondrodysplasia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Diseases |
Polycystic kidney disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyle metaphyseal dysplasia |
Pyle Metaphyseal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Relative macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
29022645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29022645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
10200281 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhizomelia |
Rhizomelia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
BEFREE |
30728324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
ORPHANET_DG |
30728324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
CLINVAR_DG |
30728324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
UNIPROT_DG |
30728324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strudwick syndrome |
Strudwick Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracic hypoplasia |
Thoracic hypoplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |