| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
9823979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism |
Albinism |
Pubtator |
39596324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amaurosis congenita of Leber type 1 |
Leber congenital amaurosis |
Pubtator |
33712029 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
10366101 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy |
Atrophy |
Pubtator |
32565670 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
7610041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
GWASCAT_DG |
28604730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
26061684 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
37493686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
Pubtator |
23940504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathy |
Pubtator |
31253780, 39596324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Color Vision Defects |
Color vision deficiency |
Pubtator |
23940504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
11593399, 28903393, 9233623, 9823979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
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 penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
37493686 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
15863674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
29049012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
BEFREE |
31502381 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Emphysema |
Emphysema |
Pubtator |
16504044 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Emphysema |
Emphysema |
Pubtator |
18295997 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
15460906 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial Aneurysm |
GWASCAT_DG |
18997786, 20364137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial Aneurysm |
GWASDB_DG |
18997786, 20364137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial aneurysm |
Pubtator |
31250579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
20578947 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leber Congenital Amaurosis |
Leber congenital amaurosis |
Pubtator |
23940504, 31253780 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
LHGDN |
16769578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
18937283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Localized neuroblastoma |
Neuroblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
32565670, 34183725 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Methylmalonic Aciduria and Homocystinuria CblF Type |
Methylmalonic acidemia |
Pubtator |
35709987 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Michelin tire baby syndrome |
Michelin Tire Baby Syndrome |
ORPHANET_DG |
26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple benign circumferential skin creases on limbs |
Multiple Benign Circumferential Skin Creases On Limbs |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30094535, 9823979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
10588946 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
Pubtator |
23844040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-cell lymphoblastic leukemia |
Lymphoblastic Leukemia |
BEFREE |
16769578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
16769578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
10391212, 10484783, 32423767, 32565670, 40724865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
BEFREE |
10845615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
30718709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
BEFREE |
30913292 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
10391211, 10484783, 11095597, 16597330, 24265693, 26497376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
10391212, 10484783, 11864893, 15994872, 16568030, 16597330, 16799052, 19339744, 20664799, 21347327, 22052604, 22110072, 23049240, 23077400, 23940504, 23950152, 24265693, 24339724, 24940031, 25494902, 26321861, 27307693, 29843741, 29912909, 31059986, 31960602, 32005865, 32100970, 32565670, 32587456, 32749464, 32795431, 33247286, 35205402, 35814500, 37493686, 37648803, 39457414, 40168954, 40225919, 40296824 View all (26 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
11527933, 12882812, 15933747, 16597330, 25088982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
LHGDN |
12882812, 15863674, 15980210, 16568030, 18347624, 18552984 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
15863674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
32098976 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 1 |
Retinitis Pigmentosa |
UNIPROT_DG |
10391211, 10484783, 11095597, 15863674, 15933747, 19956407, 20664799, 22052604, 22334370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 1 |
Retinitis Pigmentosa |
CLINVAR_DG |
10391211 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 1 |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
15863674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 1 |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
GENOMICS_ENGLAND_DG |
15863674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 |
Skin Creases, Congenital Symmetric Circumferential |
BEFREE |
26637975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 |
Skin Creases, Congenital Symmetric Circumferential |
UNIPROT_DG |
26637975 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 |
Skin Creases, Congenital Symmetric Circumferential |
GENOMICS_ENGLAND_DG |
26637975 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 |
Skin Creases, Congenital Symmetric Circumferential |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Squamous cell carcinoma |
Carcinoma |
LHGDN |
16007168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
27208742 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
29358861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
28903393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urogenital Abnormalities |
Urogenital abnormalities |
Pubtator |
37584388 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndromes |
Usher syndrome |
Pubtator |
23940504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitamin D Deficiency |
Vitamin d deficiency |
Pubtator |
23219444 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |