| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
BEFREE |
23451857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
GWASCAT_DG |
28196072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia Areata |
Alopecia Areata |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Anaplastic carcinoma |
Anaplastic Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety disorder |
Pubtator |
28256045 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atresia of nasolacrimal duct |
Atresia Of Nasolacrimal Duct |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Avascular necrosis of the capital femoral epiphysis |
Avascular Necrosis Of The Capital Femoral Epiphysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Cell Cancer |
Basal Cell Neoplasm |
GWASCAT_DG |
31174203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal cell carcinoma |
Carcinoma |
GWASCAT_DG |
31174203 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Basal Cell Neoplasm |
Basal Cell Neoplasm |
GWASCAT_DG |
31174203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign Prostatic Hyperplasia |
Benign Prostatic Hyperplasia |
BEFREE |
14997205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone Disease |
BEFREE |
12446778 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases, Developmental |
Bone Disease |
BEFREE |
12446778 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bone Diseases, Developmental |
Bone Disease |
CTD_human_DG |
19759027 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachydactyly |
Brachydactyly |
BEFREE |
11112658, 27133561, 30914275 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Brachydactyly |
Brachydactyly |
Pubtator |
24448126, 30914275, 34897794 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Brachydactyly |
Brachydactyly |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Brachydactyly Type E |
Brachydactyly |
Pubtator |
29499646, 30914275 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
15613454, 21673316, 21761348, 21868360, 23776679, 24595984, 25277197, 28423734, 28944451, 29471243, 30071870, 30082728, 30380416 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
29059683 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
14997205, 21761348, 23260012, 23729783, 23776679, 24595984, 24934762, 25277197, 26183398, 28423734, 30380416, 33011748, 36399408, 37074839, 37406296, 37461248, 38041048, 38052269, 39243111, 40025593 View all (5 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
26183398 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma |
Carcinoma |
BEFREE |
30071870 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
33015773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
29601666 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
33011748 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Small Cell |
Small cell carcinoma |
Pubtator |
37406296 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Spindle-Cell |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
30787327 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
23762846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
37632791, 39307879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone Dystrophy |
Cone dystrophy |
Pubtator |
34285179 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
22315192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neurologic anomalies |
Drachtman Weinblatt Sitarz syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CORNELIA DE LANGE SYNDROME 4 |
Cornelia De Lange Syndrome |
BEFREE |
25899858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
30787327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
25328121 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
30787327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Disease |
Coronary artery disease |
Pubtator |
30787327 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
30787327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coxa Magna |
Coxa Magna |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| De Lange Syndrome |
De lange syndrome |
Pubtator |
26522117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
34285179 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diverticular Diseases |
Diverticular Diseases |
GWASCAT_DG |
30177863 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
30914275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism Pituitary |
Pituitary dwarfism |
Pubtator |
22964620 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
Pubtator |
29327327 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
30787327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
10615131, 11112658, 14560312, 24709795, 25792522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystrophia unguium |
Nail dystrophy |
BEFREE |
16088167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
23028188 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
29265571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
30914275, 34740356 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
38052269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Multiple Exostoses |
Multiple congenital exostosis |
BEFREE |
10647898, 7711731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
BEFREE |
18713754, 23133399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
LHGDN |
18713754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25792522, 28256045, 29265571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
9138161 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
30787327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
BEFREE |
26540763 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure Chronic |
Kidney failure |
Pubtator |
39307879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
24502542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Langer-Giedion Syndrome |
Langer-Giedion Syndrome |
BEFREE |
10647898, 12457403, 18478595, 19464398, 21948702, 22315192, 23832104, 25899858, 8530105 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Langer-Giedion Syndrome |
Langer-Giedion Syndrome |
CTD_human_DG |
11708946 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Langer-Giedion Syndrome |
Langer-Giedion Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Langer-Giedion Syndrome |
Langer-Giedion Syndrome |
ORPHANET_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Laryngeal Neoplasms |
Laryngeal neoplasm |
Pubtator |
36033826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Legg-Calve-Perthes Disease |
Legg-Calve-Perthes Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
17244685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
29601666 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
40197498 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
15613454, 20932292, 21673316, 21761348, 21868360, 23260012, 23776679, 24595984, 25277197, 28423734, 28944451, 29471243, 30071870, 30082728, 30380416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
29601666 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
14997205, 15613454, 21761348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25277197, 28423734, 30071870, 30315105, 30563971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
23762846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
16043716 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
20969773, 29895970 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
37406296 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microdontia (disorder) |
Microdontia |
BEFREE |
30691926 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitral Valve Prolapse Syndrome |
Mitral Valve Prolapse |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
36626444 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
10615131, 11112658, 14560312, 24709795, 25792522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
14997205, 15613454, 21761348, 28528424, 30071870, 30082728, 30380416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noninfiltrating Intraductal Carcinoma |
Ductal carcinoma |
BEFREE |
16043716, 21761348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noninfiltrating Intraductal Carcinoma |
Ductal carcinoma |
LHGDN |
16043716 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
29145611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
Pubtator |
29145611 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
18424451 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
21740822, 29145611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
29145611, 29327327 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
19759027, 24491996 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
26377811, 35102149 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
35488350 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
37406296, 40197498 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
14997205, 15613454, 21761348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
LHGDN |
17467349 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
21761348, 38052269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudohypoparathyroidism |
Pseudohypoparathyroidism |
Pubtator |
29499646 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Relative macrocephaly |
Macrocephaly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma Embryonal |
Rhabdomyosarcoma |
Pubtator |
37452493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
GWASDB_DG |
22491018 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
GWASCAT_DG |
22491018 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
30459475 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
18424451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
Spastic Ataxia |
BEFREE |
27133561 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar Ataxias |
Spinocerebellar ataxia |
Pubtator |
33073934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sporadic Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28944451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of skin |
Skin carcinoma |
GWASCAT_DG |
27424798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
33044891 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Talipes |
Talipes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
30541476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichorhinophalangeal dysplasia type I |
Trichorhinophalangeal Dysplasia |
GENOMICS_ENGLAND_DG |
10615131 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal dysplasia type I |
Trichorhinophalangeal Dysplasia |
BEFREE |
10647898, 20394624, 23510776, 23835950 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal dysplasia type I |
Trichorhinophalangeal Dysplasia |
CLINVAR_DG |
11112658, 18946009, 22964620, 23451857, 24502542, 25792522, 26380986, 27826100, 28050602, 28170084, 28468609 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal dysplasia type I |
Trichorhinophalangeal Dysplasia |
UNIPROT_DG |
14560312 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal dysplasia type I |
Trichorhinophalangeal Dysplasia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal syndrome type 1 and 3 |
Trichorhinophalangeal Dysplasia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Trichorhinophalangeal syndrome type 2 |
Trichorhinophalangeal Dysplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichorhinophalangeal Syndrome Type I |
Trichorhinophalangeal syndrome |
Pubtator |
23572024, 24448126, 24595984, 24886451, 28256045, 31343132, 31662300, 34285179, 34897794, 39243111, 40025593, 9138161 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichorhinophalangeal Syndrome, Type III |
Trichorhinophalangeal Dysplasia |
UNIPROT_DG |
11112658, 11807863 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal Syndrome, Type III |
Trichorhinophalangeal Dysplasia |
CLINVAR_DG |
11112658, 18946009, 22964620, 23451857, 24502542, 25792522, 27826100, 28050602, 28170084, 28468609 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal Syndrome, Type III |
Trichorhinophalangeal Dysplasia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichorhinophalangeal Syndrome, Type III |
Trichorhinophalangeal Dysplasia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
33011748 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
37012444, 37074839, 37406296, 39243111, 40025593 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Undifferentiated carcinoma |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
38052269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |