| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic sensorineural deafness type DFNA |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
10767631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
32322884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital sensorineural hearing loss |
Congenital Sensorineural Hearing Loss |
BEFREE |
15140211 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deaf Mutism |
Deafness |
CTD_human_DG |
9843210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
21917135, 22534022, 28151902, 28717060, 29926981, 30036422, 30235673, 30973918, 31250571, 31345197, 31992338, 38172182, 38172427, 39700758 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Acquired |
Deafness |
CTD_human_DG |
9843210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness, Autosomal Dominant 2B |
Deafness |
GENOMICS_ENGLAND_DG |
9843210 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 2B |
Deafness |
UNIPROT_DG |
9843210 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 2B |
Deafness |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 2B |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY |
Deafness |
GENOMICS_ENGLAND_DG |
9843210 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| DEAFNESS, AUTOSOMAL RECESSIVE (disorder) |
Deafness |
GENOMICS_ENGLAND_DG |
9843210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE (disorder) |
Deafness |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) |
Deafness |
GENOMICS_ENGLAND_DG |
9843210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) |
Deafness |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) |
Deafness |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) |
DEAFNESS, DIGENIC |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) |
DEAFNESS, DIGENIC |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) |
DEAFNESS, DIGENIC |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
10594760, 10757647, 10888284, 11933201, 12165562, 12702148, 14681040, 16297190, 16549784, 19755382, 21834795 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dermatologic disorders |
Dermatologic Disorders |
LHGDN |
12165562 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dermatologic disorders |
Dermatologic Disorders |
CTD_human_DG |
16372802 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, BENIGN NEONATAL, 2 |
Epilepsy |
BEFREE |
18061539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythrokeratoderma |
Erythrokeratoderma |
BEFREE |
10594760, 11122035, 12165562, 16297190, 19755382, 21188847, 21564177, 21920315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythrokeratoderma |
Erythrokeratoderma |
GENOMICS_ENGLAND_DG |
10594760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythrokeratodermia variabilis |
Erythrokeratodermia Variabilis |
CLINGEN_DG |
10594760, 10798362, 12176042, 15948974, 18482034, 21188847, 21879244, 21920315, 21950330, 22393412, 22681493, 23442023, 25297803, 26251042, 26632638, 9843209 View all (1 more) |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Erythrokeratodermia variabilis |
Erythrokeratodermia Variabilis |
GENOMICS_ENGLAND_DG |
10594760, 10798362, 9843209 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Erythrokeratodermia variabilis |
Erythrokeratodermia Variabilis |
BEFREE |
10798362, 11017804, 11309368, 12019212, 12165562, 12702148, 14583444, 15131355, 15948974, 16077902, 17446259, 22266302, 22393412, 25964267, 26251042, 29044474, 29570224, 9843209 View all (3 more) |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Erythrokeratodermia Variabilis |
Erythrokeratodermia variabilis |
Pubtator |
11017804, 12648223, 14594578, 16077902, 22393412, 25964267, 30924322 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Erythrokeratodermia variabilis |
Erythrokeratodermia Variabilis |
ORPHANET_DG |
21564177 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Erythrokeratodermia variabilis |
Erythrokeratodermia Variabilis |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Erythrokeratodermia variabilis |
Erythrokeratodermia Variabilis |
CTD_human_DG |
9843209 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 |
Erythrokeratodermia Variabilis Et Progressiva |
UNIPROT_DG |
10594760, 10798362, 9843209 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 |
Erythrokeratodermia Variabilis Et Progressiva |
GENOMICS_ENGLAND_DG |
10594760, 10798362, 9843209, 9843210 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 |
Erythrokeratodermia Variabilis Et Progressiva |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Greither Disease |
Erythrokeratodermia variabilis |
CTD_human_DG |
9843209 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing Loss |
Hearing loss |
Pubtator |
14681040, 16077902, 19755382, 22617145, 29707576, 29926981, 30036422, 37801830 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
15140211, 21254920, 30036422, 35580552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss, High-Frequency |
Hearing Loss |
BEFREE |
12173596, 29106878, 9843210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss, High-Frequency |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis |
Hyperkeratosis |
BEFREE |
12648223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis, Epidermolytic |
Hyperkeratosis, Epidermolytic |
CTD_human_DG |
16297190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratitis Ichthyosis Deafness Syndrome |
Keratitis ichthyosis deafness syndrome |
Pubtator |
15140211 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
BEFREE |
15668823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long QT Syndrome |
Long QT Syndrome |
BEFREE |
11175290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
29747774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Necrosis |
Necrosis |
Pubtator |
22393412 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
19755382 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
11309368, 15276679, 19755382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy with hearing impairment |
Neuropathy With Hearing Impairment |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nodular Sclerosis Classical Hodgkin Lymphoma |
Classical Hodgkin lymphoma |
BEFREE |
23256547, 30235673, 30556268 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
10925378, 15131355, 17259707, 18607988, 20593197, 22154049, 22617145, 24913888, 27176802, 29739174, 30556268, 30589569 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
11309368, 12630965, 12791041, 15131355, 17259707, 19744334, 22617145, 25214170, 9843210 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Patchy palmoplantar keratoderma |
Patchy palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
GENOMICS_ENGLAND_DG |
10594760 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
11309368, 12165562, 16077902, 19755382 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
CTD_human_DG |
11309368 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
16077902, 19755382 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
11309368, 12165562, 16077902, 19755382 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prelingual Deafness |
Deafness |
CTD_human_DG |
9843210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound hearing impairment |
Hearing Impairment |
BEFREE |
29739174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
11309368, 12165562, 15276679, 22617145, 29739174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
CTD_human_DG |
11309368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory hearing loss |
Hearing Loss |
CTD_human_DG |
11309368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
14681040, 16297190, 19755382 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Skin Diseases Genetic |
Skin disease |
Pubtator |
10594760 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin lesion |
Skin Lesion |
BEFREE |
15668823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
29747774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
29747774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
29747774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
29747774 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndromes |
Usher syndrome |
Pubtator |
35580552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |