| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anhidrosis |
Anhidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anhydrotic Ectodermal Dysplasias |
Hypohidrotic ectodermal dysplasia |
BEFREE |
17354266, 21771270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anodontia |
Anodontia |
Pubtator |
22581971, 27665865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant hypohidrotic ectodermal dysplasia |
Hypohidrotic ectodermal dysplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive hypohidrotic ectodermal dysplasia |
Hypohidrotic ectodermal dysplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bloch Sulzberger syndrome |
Incontinentia pigmenti syndrome |
BEFREE |
19504606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Christ-Siemens-Touraine syndrome |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
BEFREE |
11780064, 17354266, 18231121, 19504606, 20222921, 20477971, 21626677, 21771270, 21876339, 22013926, 26440664 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Christ-Siemens-Touraine syndrome |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
GENOMICS_ENGLAND_DG |
20222921, 25206167 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Christ-Siemens-Touraine syndrome |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
37838280 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Caries |
Dental caries |
Pubtator |
21940522, 39543892 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental absence of tooth |
Anodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
GWASCAT_DG |
28736931 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia |
Ectodermal Dysplasia |
BEFREE |
19504606 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia |
Ectodermal dysplasia |
Pubtator |
22581971, 30974434, 34573371, 37673591 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia |
Ectodermal Dysplasia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia 1 Anhidrotic |
Ectodermal dysplasia |
Pubtator |
33205897 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT |
Ectodermal dysplasia |
BEFREE |
15721144, 16029325, 17478381, 18231121, 19504606, 20222921, 22013926, 26440664, 31245878, 31310406, 31796081 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Ectodermal Dysplasia |
BEFREE |
15721144, 16029325, 17478381, 18231121, 19504606, 20222921, 22013926, 26440664, 31245878, 31310406, 31796081 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Ectodermal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Ectodermal dysplasia |
BEFREE |
15721144, 16029325, 17478381, 18231121, 19504606, 20222921, 22013926, 26440664, 31245878, 31310406, 31796081 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Ectodermal dysplasia |
UNIPROT_DG |
17354266, 20979233 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Ectodermal dysplasia |
GENOMICS_ENGLAND_DG |
20222921, 25206167 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Ectodermal dysplasia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Ectodermal dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Ectodermal Dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Ectodermal dysplasia |
UNIPROT_DG |
11780064, 17354266, 20222921 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Ectodermal dysplasia |
BEFREE |
15721144, 16029325, 17478381, 18231121, 19504606, 20222921, 22013926, 26440664, 31245878, 31310406, 31796081 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Ectodermal dysplasia |
GENOMICS_ENGLAND_DG |
20222921, 25206167 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Ectodermal dysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Ectodermal Dysplasia 3, Anhidrotic |
Ectodermal Dysplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia Hypohidrotic Autosomal Recessive |
Ectodermal dysplasia |
Pubtator |
30974434 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
Ectodermal dysplasia |
BEFREE |
21332691 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
Ectodermal dysplasia |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
Ectodermal dysplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Eczema |
Eczema |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
BEFREE |
21626677, 24312213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of nipple |
Hypoplasia Of Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of teeth |
Hypoplasia of teeth |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
GWASCAT_DG |
30595370 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypotrichosis |
Hypotrichosis |
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 |
| 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 |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
26449251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
BEFREE |
21626677, 24312213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Neoplasms |
Oropharyngeal neoplasm |
Pubtator |
37175405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peg-shaped teeth |
Peg-Shaped Teeth |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32188493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis |
Rhinitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
36335337 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |