| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
32348224 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia Hemolytic |
Hemolytic anemia |
Pubtator |
5666119 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anterior hypopituitarism |
Hypopituitarism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
27887936, 29537336 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
BEFREE |
20576534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29643149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
18300343 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Merkel Cell |
Merkel cell carcinoma |
Pubtator |
24496457 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage Diseases |
Cartilage disease |
Pubtator |
38057865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage-hair hypoplasia |
Cartilage-Hair Hypoplasia |
BEFREE |
26720605 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronobiology Disorders |
Chronobiology disorder |
Pubtator |
24423319 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26317645, 30046389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of kidneys syndrome |
Renal agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anosmia |
Congenital Anosmia |
BEFREE |
23082007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anosmia |
Congenital anosmia |
Pubtator |
29255181 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypogonadotropic hypogonadism |
Congenital Hypogonadotropic Hypogonadism |
BEFREE |
25531638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of breast |
Breast hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of ovary |
Hypoplasia of the ovary |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital sensorineural hearing loss |
Congenital Sensorineural Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Contracture |
Contracture |
Pubtator |
19332160 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
Pubtator |
27561106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic fibrosis |
Pubtator |
26047640 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
29537336 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
31668389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
31668389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
31668389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism Pituitary |
Pituitary dwarfism |
Pubtator |
37338295 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erectile dysfunction |
Erectile Dysfunction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Euthyroid multinodular goiter |
Euthyroid multinodular goiter |
BEFREE |
21385081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Female hypogonadism syndrome |
Female Hypogonadism Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Diseases |
Gastrointestinal Diseases |
BEFREE |
22050240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
30803356 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
30803356, 35845958 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Granulomatosis with Polyangiitis |
Granulomatosis with polyangiitis |
Pubtator |
9808568 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Disease |
Graves Disease |
BEFREE |
21385081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
37338295 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gynecomastia |
Gynecomastia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemochromatosis |
Hemochromatosis |
Pubtator |
40508017 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
25626709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperalgesia |
Hyperalgesia |
Pubtator |
38057865 |
Stimulate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
31668389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
LHGDN |
17959774, 18559922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
Pubtator |
28209183, 37108593, 40508017 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism, Isolated Hypogonadotropic |
Hypogonadism |
BEFREE |
20188792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
BEFREE |
17959774, 18682503, 19719764, 20389090, 20502053 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA |
Hypogonadotropic Hypogonadism With Or Without Anosmia |
UNIPROT_DG |
17054399, 18559922, 23643382, 25077900 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA |
Hypogonadotropic Hypogonadism With Or Without Anosmia |
GENOMICS_ENGLAND_DG |
18559922, 30712880 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA |
Hypogonadotropic Hypogonadism With Or Without Anosmia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypopituitarism |
Hypopituitarism |
BEFREE |
22466334, 23386640 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypospadias |
Hypospadias |
BEFREE |
28209183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
Pubtator |
28209183 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
BEFREE |
17959774, 18559922, 19707180, 24002956, 30711026 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Idiopathic Hypogonadotropic Hypogonadism |
Hypogonadotropic hypogonadism |
Pubtator |
21454486, 24002956, 35090434, 36700485 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Infertility |
Infertility |
Pubtator |
21454486, 27561106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
22050240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable Bowel Syndrome |
BEFREE |
22050240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
30439964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kallmann Syndrome |
Kallmann syndrome |
Pubtator |
17054399, 18723471, 18985070, 21454486, 21682876, 22031817, 22035731, 22399515, 23533228, 24776628, 29022642, 29255181, 37108593 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kallmann Syndrome |
Kallmann Syndrome |
BEFREE |
17624596, 17959774, 18034870, 18285834, 18559922, 18596028, 20022991, 20389090, 20502053, 20530987, 23082007, 23386640, 24776628, 29537336, 31132148 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kallmann Syndrome |
Kallmann Syndrome |
LHGDN |
17959774, 18559922, 18682503 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kallmann Syndrome |
Kallmann Syndrome |
ORPHANET_DG |
18682503 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kallmann syndrome |
Kallmann Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kallmann Syndrome |
Kallmann Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kallmann Syndrome 1 |
Kallmann Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kallmann Syndrome 2 (disorder) |
Kallmann Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kallmann syndrome, type 3, recessive |
Kallmann Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language development disorders |
Pubtator |
19332160 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Neoplasms |
Liver neoplasm |
Pubtator |
18300343 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
18811695 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
PSYGENET_DG |
19544013, 20471630 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
20576534, 21683752 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
BEFREE |
18559922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29643149 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30046389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
31668389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mirror movements disorder |
Mirror Movements |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood Disorders |
Mood Disorder |
BEFREE |
19544013, 20576534 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mood Disorders |
Mood Disorder |
PSYGENET_DG |
19544013 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neoplasms |
Neoplasms |
BEFREE |
21385081, 26317645, 29537336, 30046389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
30277602 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-obstructive azoospermia |
Non-obstructive azoospermia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Normosmic congenital hypogonadotropic hypogonadism |
Normosmic Congenital Hypogonadotropic Hypogonadism |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
20389090, 31668389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
36130209 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Panhypopituitarism |
Panhypopituitarism |
BEFREE |
22319038 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
21385081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
27703142 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penile hypospadias |
Penile Hypospadias |
BEFREE |
28209183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary physiologic amenorrhea |
Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
27887936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary physiologic amenorrhea |
Secondary Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septo-Optic Dysplasia |
Septo-Optic Dysplasia |
BEFREE |
22319038, 23386640 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
BEFREE |
20389090 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Testicular hypogonadism |
Testicular Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
19707180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unipolar Depression |
Mental Depression |
PSYGENET_DG |
19544013, 20471630 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Unipolar Depression |
Mental Depression |
BEFREE |
20576534 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
32887509 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Varicocele |
Varicocele |
BEFREE |
31744994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vasculitis |
Vasculitis |
Pubtator |
9808568 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |