| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplastic Anemia |
Aplastic anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy of testis |
Testicular atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Marrow Failure Disorders |
Bone marrow failure syndromes |
Pubtator |
37440454 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
34129943 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression Postpartum |
Major depressive disorder |
Pubtator |
34856750 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskeratosis Congenita |
Dyskeratosis Congenita |
GENOMICS_ENGLAND_DG |
11160879, 20008900, 22965356, 28297620 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dyskeratosis Congenita |
Dyskeratosis Congenita |
BEFREE |
18523010, 20008900, 30472699 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dyskeratosis Congenita |
Dyskeratosis congenita |
Pubtator |
18523010, 19036115, 30728146 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dyskeratosis congenita |
Dyskeratosis Congenita |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dyskeratosis Congenita |
Dyskeratosis Congenita |
CLINVAR_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dyskeratosis Congenita Autosomal Recessive |
Dyskeratosis congenita |
Pubtator |
18523010 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskeratosis Congenita, Autosomal Recessive |
Dyskeratosis Congenita |
BEFREE |
18523010 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dyskeratosis Congenita, Autosomal Recessive |
Dyskeratosis Congenita |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
Dyskeratosis Congenita |
CLINGEN_DG |
11160879, 18523010, 20008900, 25467444 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
Dyskeratosis Congenita |
GENOMICS_ENGLAND_DG |
11160879, 18523010, 20008900 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
Dyskeratosis Congenita |
UNIPROT_DG |
18523010 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
Dyskeratosis Congenita |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
Dyskeratosis Congenita |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Dystrophia unguium |
Nail dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
35054812 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Stenosis |
Esophageal Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Stricture |
Esophageal Stricture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Excessive tearing |
Excessive Tearing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HOYERAAL-HREIDARSSON SYNDROME |
Hoyeraal-Hreidarsson Syndrome |
GENOMICS_ENGLAND_DG |
20008900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Acute |
Kidney Failure |
BEFREE |
30074154 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoplakia, Oral |
Leukoplakia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
15889794 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
37440454 |
Associate |
★★★★★★☆☆☆☆ 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 |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasm |
Pancreatic Neoplasm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature aging syndrome |
Premature aging |
BEFREE |
18523010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pterygium |
Pterygium |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary Fibrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37440454 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Taurodontism |
Taurodontism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Telomeric 22q13 Monosomy Syndrome |
22q13 monosomy syndrome |
Pubtator |
37440454 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |