| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 1-5 finger syndactyly |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| 2-3 toe syndactyly |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Absence of tibia with polydactyly |
Absence Of Tibia With Polydactyly |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acheiropodia |
Acheiropodia |
BEFREE |
11090342, 26749485 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acheiropodia |
Acheiropodia |
ORPHANET_DG |
11090342 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acheiropodia |
Acheiropodia |
GENOMICS_ENGLAND_DG |
11090342 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acheiropodia |
Acheiropodia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
22385606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
22385606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age-related cortical cataract |
Cortical cataract |
BEFREE |
30116630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
GENOMICS_ENGLAND_DG |
29016354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
BEFREE |
30401459, 30723320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia-intellectual disability syndrome |
Alopecia-mental retardation syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMR Syndrome |
Amr syndrome |
Pubtator |
30723320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
BEFREE |
28153008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
Pubtator |
35830358 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Cancer, Familial |
Breast Cancer |
BEFREE |
11104615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
11104615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
25855471 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
31760884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
16440058, 26200341, 31555133 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
30723320, 35413293, 36272497, 37947113 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CATARACT 44 |
Cataract |
UNIPROT_DG |
26200341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CATARACT 44 |
Cataract |
GENOMICS_ENGLAND_DG |
26200641, 29016354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CATARACT 44 |
Cataract |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CATARACT 44 |
Cataract |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
22385606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Q Fever |
Q Fever |
CTD_human_DG |
16469060 |
|
★★★★★★☆☆☆☆ 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 |
37205704 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cataract |
Congenital Cataract |
BEFREE |
26200341, 29016354, 30116630, 30723320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
19429598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital heart disease |
Congenital Heart Disease |
BEFREE |
28035386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital total cataract |
Congenital Cataract |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
28035386, 28462697 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical cataract |
Cortical cataract |
BEFREE |
30116630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cyclocephaly |
Cyclocephaly |
BEFREE |
10598817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
30723320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dimelia |
Dimelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
30723320, 35830358 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
35803560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
26667413 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
Pubtator |
26667413, 30660405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
18594817 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
30844476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
30844476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
30923116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
29016354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
37947113 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Holoprosencephaly |
Holoprosencephaly |
BEFREE |
10598817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
30660405, 31760884, 37628669 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
30660405 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplastic tibiae-postaxial polydactyly syndrome |
Hypoplastic Tibia And Postaxial Polydactyly Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
Pubtator |
35830358, 37947113 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOTRICHOSIS 14 |
Hypotrichosis |
UNIPROT_DG |
30401459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOTRICHOSIS 14 |
Hypotrichosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis simplex |
Hypotrichosis simplex |
BEFREE |
24456159, 30401459, 30723320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis simplex |
Hypotrichosis simplex |
ORPHANET_DG |
30401459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis simplex |
Hypotrichosis simplex |
Pubtator |
30401459, 30723320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis simplex |
Hypotrichosis simplex |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
25855471 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
29016354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
29166873, 30723320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
37947113 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
30660405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| LAURIN-SANDROW SYNDROME |
Laurin-Sandrow syndrome |
GENOMICS_ENGLAND_DG |
11090342 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LAURIN-SANDROW SYNDROME |
Laurin-Sandrow syndrome |
BEFREE |
24456159 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LAURIN-SANDROW SYNDROME |
Laurin-Sandrow syndrome |
ORPHANET_DG |
24456159 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Laurin-Sandrow syndrome |
Laurin-Sandrow syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LAURIN-SANDROW SYNDROME |
Laurin-Sandrow syndrome |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LAURIN-SANDROW SYNDROME |
Laurin-Sandrow syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Laurin-Sandrow Syndrome, Segmental |
Segmental Laurin-Sandrow Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy Metachromatic |
Metachromatic leukodystrophy |
Pubtator |
35803560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Limb Deformities, Congenital |
Congenital anomaly of limb |
BEFREE |
22495965, 22786669, 24777739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoidosis |
Lipoidosis |
CTD_human_DG |
15342952, 16919414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Longitudinal deficiency of radius |
Longitudinal Deficiency Of Radius |
ORPHANET_DG |
26394607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
11104615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
17786364, 30923116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
BEFREE |
24478176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
GENOMICS_ENGLAND_DG |
29016354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
11104615, 30844476, 9216685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
28207535, 37628669 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodactyly |
Oligodactyly |
BEFREE |
11606546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
BEFREE |
28153008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
28988062 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Serous Adenocarcinoma |
Ovarian serous adenocarcinoma |
BEFREE |
23836287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phocomelia of upper limb |
Phocomelia Of Upper Limb |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
BEFREE |
11606546, 12837695, 20569257, 22286052, 22786669, 23650631, 23686920, 27922091, 28035386, 28127823, 28489934, 29016641, 29543231, 30235038 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
Pubtator |
31115189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly of toes |
Polydactyly Of Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly preaxial type 1 |
Polydactyly |
Pubtator |
11333865, 28690477 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly preaxial type 1 |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, POSTAXIAL |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, PREAXIAL II (disorder) |
Polydactyly |
BEFREE |
10869115, 17300748, 18417549, 27922091, 28035386, 29543231 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, PREAXIAL II (disorder) |
Polydactyly |
GENOMICS_ENGLAND_DG |
11090342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, PREAXIAL II (disorder) |
Polydactyly |
ORPHANET_DG |
18178630, 19847792, 26394607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, PREAXIAL II (disorder) |
Polydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, PREAXIAL II (disorder) |
Polydactyly |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polysyndactyly |
Polysyndactyly |
BEFREE |
20569257 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Postaxial foot polydactyly |
Foot Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posterior subcapsular cataract |
Capsular cataract |
BEFREE |
11104615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary sclerosing cholangitis |
Sclerosing Cholangitis |
BEFREE |
11104615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive pseudorheumatoid dysplasia |
Progressive Pseudorheumatoid Dysplasia |
BEFREE |
17300748, 19847792, 24777739, 27922091, 29651423, 31395945 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radial polydactyly |
Radial Polydactyly |
BEFREE |
10329000, 11333865, 11606546, 22495965, 23686920, 24777739, 25382487, 27592358, 27922091, 29651423, 31395945, 8533803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
28445124 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Skin Diseases |
Skin disease |
Pubtator |
35413293 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal stenosis of lumbar region |
Spinal Stenosis Of Lumbar Region |
BEFREE |
28228325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
9216685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
31755615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Supernumerary metacarpal bone |
Supernumerary Metacarpal Bone |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
BEFREE |
22786669, 23650631, 23686920 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Syndactyly, Type IV |
Syndactyly |
BEFREE |
10869115, 18417549, 24456159, 27922091 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Syndactyly, Type IV |
Syndactyly |
GENOMICS_ENGLAND_DG |
11090342 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Syndactyly, Type IV |
Syndactyly |
ORPHANET_DG |
24456159 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Syndactyly, Type IV |
Syndactyly |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Talipes |
Talipes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Talipes transversoplanus |
Talipes Transversoplanus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tarsal Coalition |
Tarsal Coalition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tibia, Hypoplasia of, with Polydactyly |
Absence of tibia with polydactyly |
GENOMICS_ENGLAND_DG |
11090342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tibia, Hypoplasia of, with Polydactyly |
Absence of tibia with polydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tongue Neoplasms |
Tongue Neoplasms |
BEFREE |
19065664 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Total early-onset cataract |
Cataract |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triphalangeal thumb-polysyndactyly syndrome |
Triphalangeal Thumb-Polysyndactyly Syndrome |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Ulnar polydactyly of fingers |
Postaxial hand polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Williams Syndrome |
Williams Syndrome |
BEFREE |
24777739, 24965254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |