|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Hypogonadotropic Hypogonadism |
hypogonadotropic hypogonadism |
N/A |
N/A |
ClinVar |
| Male infertility |
male infertility with azoospermia or oligozoospermia due to single gene mutation |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abortion Habitual |
Associate
|
25064403 |
| Abortion Spontaneous |
Associate
|
25064403 |
| Adrenal Gland Diseases |
Associate
|
26475302 |
| Adrenocortical Adenoma |
Associate
|
26475302 |
| Amenorrhea |
Associate
|
21247312 |
| Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
Associate
|
26207952, 37605180 |
| CHARGE Syndrome |
Associate
|
24204987 |
| Chlamydia Infections |
Associate
|
21224062 |
| Colorectal Neoplasms |
Associate
|
26372733, 29226856 |
| Combined Pituitary Hormone Deficiency |
Associate
|
37338295 |
| Congenital Abnormalities |
Associate
|
36849876 |
| Congenital anosmia |
Associate
|
29255181 |
| Cystic Fibrosis |
Stimulate
|
26047640 |
| Cysts |
Associate
|
33120852 |
| Developmental Disabilities |
Associate
|
36849876 |
| Disease |
Associate
|
21247312 |
| Disorder of Sex Development 46 XY |
Associate
|
39285472 |
| Distal myopathy Nonaka type |
Associate
|
37338295 |
| Dwarfism Pituitary |
Associate
|
37338295 |
| Endometriosis |
Associate
|
19135668 |
| Fetal Growth Retardation |
Associate
|
22941044 |
| Growth Disorders |
Associate
|
35669683, 37338295, 37605180 |
| Hirschsprung Disease |
Associate
|
21858136 |
| Hypogonadism |
Associate
|
23341491, 24276467, 28209183, 30098700, 33413516, 34348883, 35669683, 36694982, 38272512 |
| Hypospadias |
Associate
|
28209183 |
| Hypoxia |
Associate
|
22941044 |
| Idiopathic Hypogonadotropic Hypogonadism |
Associate
|
20591981, 21247312, 21454486, 24002956, 24276467, 25226293, 33208564, 35090434 |
| Immunologic Deficiency Syndromes |
Associate
|
29161432 |
| Infections |
Stimulate
|
21224062 |
| Infertility |
Associate
|
21454486 |
| Kallmann Syndrome |
Associate
|
17054399, 18723471, 18985070, 21454486, 21682876, 22031817, 22035731, 22399515, 23200691, 23533228, 28858133, 29255181, 33120852, 35090434, 35669683, 38272512 View all (1 more) |
| Lymphatic Metastasis |
Stimulate
|
26372733 |
| Microphthalmia Isolated 1 |
Associate
|
26207952, 29161432 |
| Neoplasm Metastasis |
Stimulate
|
26372733 |
| Neoplasms |
Associate
|
24496457, 26372733, 26475302, 34971930 |
| Neoplasms |
Inhibit
|
32861966 |
| Peri Implantitis |
Associate
|
21224062 |
| Peritoneal Neoplasms |
Associate
|
29226856 |
| Pregnancy Ectopic |
Associate
|
21224062 |
| Puberty Delayed |
Associate
|
21454486 |
| Puberty Precocious |
Associate
|
28338294 |
| Stomatognathic Diseases |
Associate
|
34348883 |
| Thyroid Hormone Resistance Selective Pituitary |
Associate
|
23341491 |
| Trophoblastic Neoplasms |
Associate
|
34955534 |
| Ureteral Neoplasms |
Associate
|
33120852 |
| Ureteral Obstruction |
Associate
|
33120852 |
| Urinary Bladder Diseases |
Associate
|
33120852 |
| Urologic Diseases |
Associate
|
33120852 |
| Uterine Diseases |
Associate
|
19135668 |
|