| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Collodion Fetus |
Congenital Ichthyosis |
CTD_human_DG |
21739938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ichthyosis |
Congenital Ichthyosis |
BEFREE |
15629692, 16116617, 17608720, 19131948, 23954555, 26298204, 26578203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ichthyosis |
Congenital Ichthyosis |
CTD_human_DG |
21739938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital non-bullous ichthyosiform erythroderma |
Congenital Nonbullous Ichthyosiform Erythroderma |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital Nonbullous Ichthyosiform Erythroderma |
ORPHANET_DG |
12780701, 19131948, 21668430, 25423909 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital Nonbullous Ichthyosiform Erythroderma |
BEFREE |
17608720, 18086569, 19131948, 23954555, 26578203 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital Nonbullous Ichthyosiform Erythroderma |
CTD_human_DG |
21739938 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital Nonbullous Ichthyosiform Erythroderma |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Corneal erosion |
Corneal erosion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectropion |
Ectropion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exfoliative dermatitis |
Exfoliative Dermatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
30135298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gangrene |
Gangrene |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Harlequin Fetus |
Harlequin Ichthyosis |
CTD_human_DG |
21739938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis |
Hyperkeratosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis Epidermolytic |
Epidermolytic hyperkeratosis |
Pubtator |
26370990, 29935003 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis, Epidermolytic |
Hyperkeratosis, Epidermolytic |
BEFREE |
26370990, 29935003 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
BEFREE |
15629692, 16116617, 26298204 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ichthyoses |
Ichthyosis |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ichthyosiform Erythroderma Congenital |
Congenital ichthyosiform erythroderma |
Pubtator |
27025581 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosiform Erythroderma, Congenital |
Ichthyosis Congenita |
LHGDN |
11773004, 15629692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosiform Erythroderma, Congenital |
Ichthyosis Congenita |
BEFREE |
17608720, 19131948, 21668430, 23954555, 26578203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosiform Erythroderma, Congenital |
Ichthyosis Congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 |
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosis |
Ichthyosis |
Pubtator |
27025581 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Ichthyosis Congenita I |
Ichthyosis Congenita |
CTD_human_DG |
21739938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosis Congenita II |
Ichthyosis Congenita |
CTD_human_DG |
21739938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 |
Ichthyosis with hypotrichosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 |
Ichthyosis with hypotrichosis |
UNIPROT_DG |
11773004, 15629692, 16116617, 19131948, 19890349 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 |
Ichthyosis with hypotrichosis |
CLINVAR_DG |
16116617, 19131948, 19890349, 25998749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 |
Ichthyosis with hypotrichosis |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIS, LAMELLAR, 5 |
Lamellar ichthyosis |
CTD_human_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 |
| Keratitis |
Keratitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lamellar ichthyosis |
Lamellar ichthyosis |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lamellar ichthyosis type 3 |
Lamellar ichthyosis |
Pubtator |
17139268, 19131948, 26578203, 30600594 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
22919386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
30678711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
30135298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
30135298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
30678711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
22919386 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
30678711 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Self-Healing Collodion Baby |
Self-Healing Collodion Baby |
ORPHANET_DG |
19890349 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Self-improving collodion baby |
Self-Healing Collodion Baby |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
26370990, 29130490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
30135298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |