| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory nipple |
Accessory Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
Pubtator |
17545191 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Psoriatic |
Psoriatic arthritis |
Pubtator |
17545191 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
37511353 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Wilms Tumor |
Wilms tumor |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Developmental |
Bone disease |
Pubtator |
30982611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases, Developmental |
Bone Disease |
BEFREE |
30982611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
11454708, 32199612 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bundle-Branch Block |
Bundle Branch Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31484922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
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 malrotation of intestine |
Congenital malrotation of intestine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital omphalocele |
Congenital omphalocele |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniofacial Abnormalities |
Craniofacial abnormalities |
Pubtator |
30982611 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
31292255 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of vertebral segmentation |
Abnormal spinal segmentation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
29948407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
29948407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
25240528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double ureter |
Double Ureter |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
37609818 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37609818 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatoblastoma |
Hepatoblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Multiple Exostoses |
Multiple congenital exostosis |
BEFREE |
21506131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
BEFREE |
9931407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
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 |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keipert syndrome |
Keipert Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
30010221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
27071854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30010221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel Diverticulum |
Meckel Diverticulum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
Nail Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail dysplasia |
Nail dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasodigitoacoustic syndrome |
Nasodigitoacoustic Syndrome |
BEFREE |
30982611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasodigitoacoustic syndrome |
Nasodigitoacoustic Syndrome |
ORPHANET_DG |
30982611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasodigitoacoustic syndrome |
Nasodigitoacoustic Syndrome |
CLINVAR_DG |
30982611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasodigitoacoustic syndrome |
Nasodigitoacoustic syndrome |
Pubtator |
30982611, 35168097 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
31522169 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
BEFREE |
10814714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
BEFREE |
25240528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
25240528, 28746787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ocular Hypertension |
Ocular hypertension |
Pubtator |
36727620 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Orofaciodigital syndrome 9 |
Orofaciodigital syndrome |
Pubtator |
30982611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
30010221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
32199612 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
24920634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary Neoplasms |
Pituitary neoplasm |
Pubtator |
36686480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
BEFREE |
19941983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, POSTAXIAL |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polysplenia |
Polysplenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
35281477 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow Syndrome |
Robinow syndrome |
Pubtator |
29276006 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Simple renal cyst |
Renal cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Simple syndactyly of fingers - first web |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Simpson-Golabi-Behmel syndrome |
Simpson-Golabi-Behmel Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
Simpson-Golabi-Behmel Syndrome |
BEFREE |
10814714, 19941983, 23606591, 30048822, 31583675, 31651874, 9787072 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
Simpson-Golabi-Behmel Syndrome |
ORPHANET_DG |
21082656 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
Simpson-Golabi-Behmel Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spade-like hand |
Spade-Like Hand |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
27071854, 31522169 |
|
★★★★★★☆☆☆☆ 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 |
| Talipes transversoplanus |
Talipes Transversoplanus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Teratoma |
Teratoma |
BEFREE |
24920634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transposition of Great Vessels |
Transposition Of Great Vessels |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulnar polydactyly of fingers |
Postaxial hand polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
37511353 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |