ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease MGD
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 CausalMutation disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 GenomicAlterations disease CGI
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 GeneticVariation disease CLINVAR
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 SusceptibilityMutation disease CLINVAR
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 CausalMutation disease CLINVAR
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 Biomarker disease GENOMICS_ENGLAND
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 CausalMutation disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 GenomicAlterations disease CGI
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.600 GenomicAlterations disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.600 GenomicAlterations disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.600 GenomicAlterations disease CGI
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.500 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.500 Biomarker disease HPO
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.500 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.500 Biomarker phenotype CTD_human
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation group CGI
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.400 Biomarker disease HPO
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.380 GenomicAlterations disease CGI
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.380 CausalMutation disease CGI
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.360 GenomicAlterations disease CGI
CUI: C0496920
Disease: Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of ovary 		0.300 GenomicAlterations disease CGI