Previous symbols: ESR. Aliases: ER, NR3A1, Era, ER-alpha.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Estrogen Resistance Syndrome | causative germline loss of function |
mechanism: ESR1 Loss-of-Function
|
| Osteoporosis | susceptibility |
mechanism: RANKL/OPG Dysregulation
|
| Premenstrual Dysphoric Disorder | susceptibility | |
| Skeletal Fluorosis | protective germline | |
| Breast Carcinoma |
untyped
Acquired endocrine resistance mutation
somatic
|
|
| ER-Positive Breast Cancer |
untyped
Acquired Mutations (Resistance)
|
mechanism: ESR1 Mutation-Driven Endocrine Resistance; Estrogen Receptor Activation
|
| Endometrial Carcinoma | no genetic record |
mechanism: Unopposed Estrogen Signaling
|
| Endometrial Endometrioid Adenocarcinoma | no genetic record |
mechanism: Unopposed Estrogen Signaling
|
| Heart Failure | no genetic record |
mechanism: Loss of Myocardial Oestrogen Receptor Signalling
|
| Lymphangioleiomyomatosis | no genetic record |
mechanism: Estrogen-Driven LAM Cell Survival and Dissemination
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.