| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthritis, Psoriatic |
Psoriatic Arthritis |
BEFREE |
28645582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Cancer, Familial |
Breast Cancer |
BEFREE |
30303537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
22822095, 29139326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
25575132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Basal Cell |
Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cockayne Syndrome, Type I |
Cockayne Syndrome |
BEFREE |
20215648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31650563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
24259968 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conjunctivitis |
Conjunctivitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Melanoma |
Melanoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectropion |
Ectropion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Entropion |
Entropion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratitis |
Keratitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
12546696, 12873983, 16823845, 17334634, 19564618, 20577207, 21640722, 29859927, 30362123, 30535880 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
11113193, 17334634, 25256075, 29139326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
11032022, 16823845, 25766642, 30290838, 30297532, 30362123, 31650563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nijmegen Breakage Syndrome |
Nijmegen Breakage Syndrome |
BEFREE |
28430587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Poikiloderma |
Poikiloderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin neoplasm |
Pubtator |
11113111, 19380493, 20577207, 22822095, 28423907, 29139326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin Neoplasms |
BEFREE |
17334634, 29859927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
17334634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of skin |
Skin carcinoma |
BEFREE |
16823845, 17334634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
21110884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma |
Xeroderma |
BEFREE |
29124689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum |
Xeroderma Pigmentosum |
BEFREE |
10385124, 10398605, 10556591, 10871396, 11032022, 11113193, 11157773, 11376341, 11773631, 12082017, 12405351, 12546696, 12873983, 16449651, 16798111, 17079196, 19564618, 20577207, 21050139, 21640722, 22217736, 24549972, 25435364, 26184184, 26971583, 27607234, 27982466, 28688171, 29859927, 31028847 View all (15 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Xeroderma Pigmentosum |
Xeroderma pigmentosum |
Pubtator |
10856253, 10887158, 11157773, 11773631, 15342632, 15569147, 18068156, 23755135, 26874523, 29208038, 35328096, 38212351 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Xeroderma Pigmentosum |
Xeroderma Pigmentosum |
LHGDN |
12244178, 14734526, 17344931, 18703314 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Xeroderma Pigmentosum |
Xeroderma Pigmentosum |
CTD_human_DG |
22745795 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Xeroderma Pigmentosum |
Xeroderma pigmentosum |
Pubtator |
37142601 |
Stimulate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Xeroderma pigmentosum variant |
Xeroderma Pigmentosum |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum variant type |
Xeroderma pigmentosum |
Pubtator |
11773631, 12644471, 14734526, 16449651, 17344931, 18368133, 18634905, 18946034, 22056306, 23630442 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
Xeroderma Pigmentosum |
BEFREE |
25256075 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, group A |
Xeroderma Pigmentosum |
BEFREE |
16798111, 25256075, 8610147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, group G |
Xeroderma Pigmentosum |
BEFREE |
25256075 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, variant form |
Xeroderma Pigmentosum |
ORPHANET_DG |
24130121 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
UNIPROT_DG |
10385124, 10398605, 11032022, 11121129, 11773631, 24130121 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
CLINGEN_DG |
10385124, 10398605, 16397220, 17015482, 24105368 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
CLINVAR_DG |
11121129, 17344931, 18368133, 18703314, 24130121, 26884178, 27004399 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
BEFREE |
17344931, 20577207, 23345618, 23630442 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
GENOMICS_ENGLAND_DG |
23651273, 25128761, 30511002 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
ORPHANET_DG |
24130121 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Xeroderma pigmentosum, variant type |
Xeroderma Pigmentosum |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |