| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
GWASCAT_DG |
28196072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
40708016 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anodontia |
Anodontia |
Pubtator |
30046887, 34042254 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness Autosomal Recessive |
Deafness |
Pubtator |
30046887 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 98 |
Deafness |
GENOMICS_ENGLAND_DG |
22678063 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 98 |
Deafness |
BEFREE |
30046887 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 98 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
CLINVAR_DG |
27736875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia |
Ectodermal dysplasia |
Pubtator |
34042254, 35741818, 40428341 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS |
Ectodermal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS |
Ectodermal Dysplasia |
GENOMICS_ENGLAND_DG |
27736875 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS |
Ectodermal Dysplasia |
UNIPROT_DG |
27736875 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Epilepsy |
Epilepsy |
BEFREE |
16205735 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
34042254 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
34795337 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
CLINVAR_DG |
27736875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmia syndromic 2 |
Microphthalmia |
Pubtator |
30046887 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
22678063, 26969326, 27736875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peg-shaped teeth |
Peg-Shaped Teeth |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
36924977 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sagittal craniosynostosis |
Sagittal craniosynostosis |
CLINVAR_DG |
27736875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Taurodontism |
Taurodontism |
CLINVAR_DG |
27736875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |