| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Achondrogenesis type 1B |
Achondrogenesis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis, type IB (disorder) |
Achondrogenesis |
CLINVAR_DG |
10465113, 10482955, 11241838, 11448940, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 26375458, 8528239, 8571951, 8931695, 9342225 View all (7 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis, type IB (disorder) |
Achondrogenesis |
BEFREE |
11570921, 12966518, 18708426, 21155763, 8702490, 8723100, 8931695, 9342225, 9637425 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis, type IB (disorder) |
Achondrogenesis |
GENOMICS_ENGLAND_DG |
18925670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis, type IB (disorder) |
Achondrogenesis |
UNIPROT_DG |
8528239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achondrogenesis, type IB (disorder) |
Achondrogenesis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired clubfoot |
Acquired Clubfoot |
BEFREE |
11565064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
10192399, 24591336 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Juvenile |
Juvenile arthritis |
Pubtator |
17393463 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
34427073 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atelosteogenesis type 2 |
Atelosteogenesis |
CLINVAR_DG |
10465113, 10482955, 11241838, 11448940, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 26375458, 8528239, 8571951, 8931695, 9342225 View all (7 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atelosteogenesis type 2 |
Atelosteogenesis |
BEFREE |
12966518, 18708426, 21155763, 23840040, 30685387, 8723100, 8931695, 9342225 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atelosteogenesis type 2 |
Atelosteogenesis |
GENOMICS_ENGLAND_DG |
18925670, 25667404 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atelosteogenesis type 2 |
Atelosteogenesis |
UNIPROT_DG |
8571951 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atelosteogenesis type 2 |
Atelosteogenesis |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atelosteogenesis type II |
Atelosteogenesis |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Atelosteogenesis, type 1 |
Atelosteogenesis |
BEFREE |
30423444 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bone Diseases, Developmental |
Bone Disease |
CTD_human_DG |
18925670 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
28108622 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clubfoot |
Clubfoot |
Pubtator |
11565064 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
39647286 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
1737339 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Compression of spinal cord |
Spinal cord compression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
BEFREE |
11565064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of femur |
Short femur |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conn Syndrome |
Conn Syndrome |
BEFREE |
24591336 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic lesions of the pinnae |
Cystic lesions of the pinnae |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| De La Chapelle Dysplasia |
De La Chapelle Dysplasia |
BEFREE |
18708426, 9342225 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| De La Chapelle Dysplasia |
De La Chapelle Dysplasia |
GENOMICS_ENGLAND_DG |
25667404 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| De La Chapelle Dysplasia |
De La Chapelle Dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| De La Chapelle Dysplasia |
De La Chapelle Dysplasia |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
11558903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diastrophic dwarfism |
Diastrophic Dwarfism |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diastrophic dysplasia |
Diastrophic Dysplasia |
BEFREE |
10192399, 10466420, 10712206, 10857479, 11241838, 11448940, 11479597, 11558903, 11565064, 11570921, 12966518, 1345170, 14600463, 15513522, 15703192, 15720248, 15887278, 16642506, 17393463, 18708426, 20470884, 21077204, 22190686, 23840040, 24302720, 24530837, 24591336, 24598000, 25146392, 26077908, 26635355, 30423444, 8487268, 8702490, 8723100, 8879993, 8931695, 9342225 View all (23 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diastrophic dysplasia |
Diastrophic Dysplasia |
CLINVAR_DG |
10465113, 10482955, 11241838, 11303514, 11448940, 11565064, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 24598000, 26375458, 27065010, 8528239, 8571951, 8931695, 9342225 View all (11 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diastrophic dysplasia |
Diastrophic dysplasia |
Pubtator |
12193993, 17393463, 25146392 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diastrophic dysplasia |
Diastrophic Dysplasia |
GENOMICS_ENGLAND_DG |
18925670, 25667404 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diastrophic dysplasia |
Diastrophic Dysplasia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant |
Diastrophic Dysplasia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant |
Diastrophic Dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear Diseases |
Ear Diseases |
CTD_human_DG |
18925670 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epiphyseal dysplasia |
Epiphyseal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epiphyseal dysplasia multiple 4 |
Epiphyseal dysplasia |
Pubtator |
11565064, 20525296, 21922596, 29724173, 36140680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
Epiphyseal dysplasia |
CLINVAR_DG |
10465113, 10482955, 11241838, 11303514, 11448940, 11565064, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 26375458, 7923357, 8528239, 8571951, 8931695, 9342225, 9637425 View all (11 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
Epiphyseal dysplasia |
BEFREE |
12966518, 15316973, 20592910, 29724173 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
Epiphyseal dysplasia |
UNIPROT_DG |
12966518, 21922596 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
Epiphyseal dysplasia |
GENOMICS_ENGLAND_DG |
18925670, 21922596 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
Epiphyseal dysplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Facial midline hemangioma |
Facial midline hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosarcoma |
Fibrosarcoma |
LHGDN |
18056413 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Flexion contracture - elbow |
Elbow flexion contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glabellar hemangioma |
Glabellar hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hernia, Femoral |
Hernia, Femoral |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hip Contracture |
Hip Contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
BEFREE |
24041540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile arthritis |
Arthritis |
BEFREE |
17393463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile arthritis |
Arthritis |
LHGDN |
17393463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngostenosis |
Laryngostenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
BEFREE |
1324793 |
|
★★★★★★☆☆☆☆ 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 breast |
Breast Cancer |
BEFREE |
20615467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
11085512 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
20460514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
20460514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
BEFREE |
1324793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
23300579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
10465113, 11241838, 12525546, 15294877, 21077202, 8571951 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis IV |
Mucopolysaccharidosis |
BEFREE |
23300579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Epiphyseal Dysplasia |
Multiple Epiphyseal Dysplasia |
BEFREE |
11479597, 11528506, 11565064, 12966518, 15703192, 15720248, 16691584, 21965141, 23934641, 30423444, 30740902 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Epiphyseal Dysplasia |
Multiple Epiphyseal Dysplasia |
GENOMICS_ENGLAND_DG |
21922596 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Epiphyseal Dysplasia |
Multiple Epiphyseal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple epiphyseal dysplasia type 4 |
Multiple Epiphyseal Dysplasia |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Neoplasms |
Neoplasms |
BEFREE |
1737339, 24222123, 28108622 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
1324793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
30740902, 32510848 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis, Knee |
Knee osteoarthritis |
BEFREE |
11558903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
CLINVAR_DG |
10482955, 11241838, 12525546, 15294877, 20219950, 20592910, 21155763, 21922596, 8528239, 8571951, 9637425 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
11008738, 23300579 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasias |
Pubtator |
11565064, 18056413, 20525296, 28941661, 29724173, 30740902, 33724725, 36140680, 40392407 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis |
Osteoporosis |
BEFREE |
19371798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosclerosis |
Osteosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Otosclerosis |
Otosclerosis |
BEFREE |
14600463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Diseases |
Pancreatic Diseases |
BEFREE |
30937586 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pierre Robin Syndrome |
Pierre-Robin Syndrome |
BEFREE |
23840040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
BEFREE |
12193993 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondylolysis |
Spondylolysis |
BEFREE |
26077908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
34130645 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stargardt Disease |
Stargardt disease |
Pubtator |
33724725 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
11085512 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic onset juvenile chronic arthritis |
Arthritis |
BEFREE |
17393463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracic hypoplasia |
Thoracic hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tracheobronchomalacia |
Tracheobronchomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Visceral angiomatosis |
Visceral angiomatosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |