| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
40542379 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
BEFREE |
10813297, 12632434, 14558096, 15899038, 18299954, 22089454, 23612078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
LHGDN |
12632434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosis |
Ankylosis |
Pubtator |
12297987, 15899038, 20943778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
10894769, 17186460, 17278928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthropathy |
Arthropathy |
BEFREE |
15023384 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthropathy |
Arthropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
30262549 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bloom Syndrome |
Bloom Syndrome |
BEFREE |
23936839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone Disease |
BEFREE |
17186460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Resorption |
Bone resorption |
Pubtator |
29056330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcinosis |
Calcinosis |
Pubtator |
27142968 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate arthropathy |
Calcium pyrophosphate deposition |
UNIPROT_DG |
12297987, 12297989, 13130483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate arthropathy |
Calcium pyrophosphate deposition |
BEFREE |
12297989, 12707589, 15474385, 16462526, 21811784 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate arthropathy |
Calcium pyrophosphate deposition |
ORPHANET_DG |
21102543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate arthropathy |
Calcium pyrophosphate deposition |
GENOMICS_ENGLAND_DG |
9915952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate arthropathy |
Calcium pyrophosphate deposition |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate arthropathy |
Calcium pyrophosphate deposition |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate deposition disease |
Chondrocalcinosis |
BEFREE |
12297987, 13130483, 14558096, 15461680, 15474385, 15474392, 15818664, 15838246, 16462526, 18034874, 19398486, 21811784, 22198832, 24467728, 26599446, 26626724, 27032788, 29578045 View all (3 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Calcium pyrophosphate deposition disease |
Chondrocalcinosis |
LHGDN |
12297987, 15461680, 15818664 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Calcium pyrophosphate deposition disease |
Chondrocalcinosis |
ORPHANET_DG |
21102543 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Calcium pyrophosphate deposition disease |
Chondrocalcinosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CAMPOMELIC DYSPLASIA |
Campomelic Dysplasia |
BEFREE |
19257826, 21149338, 23951358, 24219578, 24663682, 30356088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage Diseases |
Cartilage disease |
Pubtator |
27142968, 34737423 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrocalcinosis |
Chondrocalcinosis |
Pubtator |
12297987, 12297989, 14558096, 15461680, 15818664, 20943778, 22647861, 24467728, 29578045, 32366894 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chondrocalcinosis 2 |
Chondrocalcinosis |
Pubtator |
12297989, 13130483 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
BEFREE |
20358596 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
36849876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniometaphyseal dysplasia |
Craniometaphyseal Dysplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Craniometaphyseal Dysplasia Autosomal Dominant |
Craniometaphyseal dysplasia |
Pubtator |
14558096, 24219578 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
Craniometaphyseal Dysplasia |
UNIPROT_DG |
11326272, 11326338 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
Craniometaphyseal Dysplasia |
BEFREE |
11326338, 14558096, 19257826, 21149338, 21465646, 23951358, 24219578, 24663682, 30356088 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
Craniometaphyseal Dysplasia |
GENOMICS_ENGLAND_DG |
9915952 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
Craniometaphyseal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
Craniometaphyseal Dysplasia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Deafness |
Deafness |
Pubtator |
20943778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
15023384, 16462526, 20353559, 24467728, 26626724 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
36849876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
GWASCAT_DG |
29632382, 30054458, 30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrioma |
Endometrioma |
CTD_human_DG |
20864642 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
CTD_human_DG |
20864642 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
LHGDN |
15461680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
15461680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial calcium pyrophosphate deposition |
Chondrocalcinosis |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma |
Glaucoma |
GWASCAT_DG |
30054594 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma, Open-Angle |
Glaucoma |
GWASCAT_DG |
29891935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss, Mixed Conductive-Sensorineural |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy |
Hypertrophy |
Pubtator |
15818664 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatasia |
Hypophosphatasia |
Pubtator |
22703652 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
20943778 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intervertebral Disc Degeneration |
Intervertebral disc disease |
Pubtator |
27142968 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure |
Kidney Failure |
BEFREE |
23075758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
31356809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic syndrome |
Pubtator |
22647861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
23726953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
20943778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
20231843 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Odontome |
Odontome |
CTD_human_DG |
18027777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
20109188, 20353559, 20943778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopetrosis |
Osteopetrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
LHGDN |
15780964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
17903296 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OVERLAP CONNECTIVE TISSUE DISEASE |
MASS syndrome |
BEFREE |
21149338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phosphate Diabetes |
Phosphate Diabetes |
BEFREE |
22647861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyarticular chondrocalcinosis |
Polyarticular chondrocalcinosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudoxanthoma Elasticum |
Pseudoxanthoma elasticum |
BEFREE |
30615970 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyle metaphyseal dysplasia |
Pyle Metaphyseal Dysplasia |
BEFREE |
26599446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
17400583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schwartz-Lelek syndrome |
Craniometaphyseal dysplasia |
ORPHANET_DG |
11326272, 11326338, 21438135 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schwartz-Lelek syndrome |
Craniometaphyseal dysplasia |
BEFREE |
16462526, 19257826, 20186813, 20358596, 20943778, 21149338, 26820766, 29056330 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
15461680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures Febrile |
Seizures |
Pubtator |
15461680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondylitis Ankylosing |
Ankylosing spondylitis |
Pubtator |
12632434, 14558096, 15899038, 23612078, 33173993 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
30846174 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Temporomandibular Joint Disorders |
Temporomandibular Joint Disorders |
BEFREE |
22003394 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
17311676 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |