| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute encephalopathy |
Encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxia of Phonation |
Apraxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmogenic Right Ventricular Dysplasia |
Arrhythmogenic right ventricular cardiomyopathy |
Pubtator |
31843279 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood Coagulation Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
21040551, 35639264 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
36205357 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30176945, 34853791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
30198869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chorioretinal atrophy |
Chorioretinal atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
GENOMICS_ENGLAND_DG |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
30696958 |
|
★★★★★★☆☆☆☆ 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 |
37945594 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of breast |
Breast aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of external ear |
Anotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of mandible |
Mandibular aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of breast |
Breast hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
GENOMICS_ENGLAND_DG |
8943353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous finger syndactyly |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33157955 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
CTD_human_DG |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
22333897, 22398447, 22855792, 26381604, 29036220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
Pubtator |
22855792 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear Diseases |
Ear disease |
Pubtator |
23516378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
CTD_human_DG |
21358632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
ORPHANET_DG |
21358632, 23516378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
CLINVAR_DG |
21358633, 22333897, 22855792, 23516378, 25689043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
BEFREE |
22398447, 22855792, 25689043, 26637980, 29036220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear-patella-short stature syndrome |
Ear-Patella-Short Stature Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia |
Ectodermal dysplasia |
Pubtator |
37833711 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
14759633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epispadias |
Epispadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
35574843 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fanconi Anemia |
Fanconi anemia |
Pubtator |
34404366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
36906590 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
22333897, 33157955 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| HHH syndrome |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
BEFREE |
10369256, 10805333, 11355015, 12807890, 12948741, 14759633, 16376511, 16940241, 17825324, 18978333, 19242930, 19287344, 22292090, 24721342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HHH syndrome |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
CLINVAR_DG |
10369256, 11552031, 12807890, 16376511, 18978333, 23247599, 23430880 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HHH syndrome |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
UNIPROT_DG |
10369256, 10805333, 11552031, 11668643, 11814739, 16601889, 19242930 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HHH syndrome |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
GENOMICS_ENGLAND_DG |
11552031, 27604308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HHH syndrome |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperammonemia |
Hyperammonemia |
Pubtator |
24721342 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hypertrophy of clitoris |
Hypertrophy Of Clitoris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
26511940 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
33157955 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Leukemia |
Leukemia |
Pubtator |
22045277 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
33375770 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
28284560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
Pubtator |
18978333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Neoplasms |
Liver neoplasm |
Pubtator |
30176945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEIER-GORLIN SYNDROME 1 |
Meier-Gorlin Syndrome |
UNIPROT_DG |
21358631, 21358632, 21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEIER-GORLIN SYNDROME 1 |
Meier-Gorlin Syndrome |
GENOMICS_ENGLAND_DG |
21358631, 21358632, 21358633, 24896178, 8943353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEIER-GORLIN SYNDROME 1 |
Meier-Gorlin Syndrome |
CLINVAR_DG |
21358632, 22855792, 23023959, 25689043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
30403179 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
30403179 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
CTD_human_DG |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
22855792, 26381604 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
22855792, 23516378, 33157955 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microlissencephaly |
Microlissencephaly |
CTD_human_DG |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mulibrey Nanism |
Mulibrey nanism |
Pubtator |
29940807 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MUNGAN SYNDROME |
MUNGAN SYNDROME |
BEFREE |
22333897, 22398447, 25689043, 26139588, 26637980, 29036220, 30696958 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23364533, 31733095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ornithine carbamoyltransferase deficiency |
Ornithine Carbamoyltransferase Deficiency |
BEFREE |
12948741 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondritis Dissecans |
Osteochondritis Dissecans |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
33804148 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary dwarfism 1 |
Pituitary dwarfism |
Pubtator |
23516378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PITUITARY DWARFISM I |
Pituitary dwarfism |
BEFREE |
22398447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cerebellar ataxia |
Cerebellar Ataxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
31733095 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
Pubtator |
31067781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
BEFREE |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
GENOMICS_ENGLAND_DG |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Congenital Microcephaly |
Congenital Microcephaly |
CTD_human_DG |
21358633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
31391008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
30702489 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
34439753 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subarachnoid Hemorrhage |
Subarachnoid hemorrhage |
BEFREE |
28983856 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Submucous cleft of hard palate |
Submucosal cleft palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
32766313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
35685866 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |