Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0027497
Disease: Nausea
Nausea
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0266399
Disease: Infantile uterus
Infantile uterus
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0338480
Disease: Common Migraine
Common Migraine
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
Neoplasm of uncertain or unknown behavior of ovary
disease 0.300 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
Neoplasm of uncertain or unknown behavior of breast
disease 0.300 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0702166
Disease: Acne
Acne
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0751466
Disease: Phonophobia
Phonophobia
disease 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
phenotype 0.300 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
Increased circulating gonadotropin level
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain
phenotype 0.100 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
phenotype 0.500 None 0 0
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
phenotype 0.100 None 0 1
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
Elevated tissue non-specific alkaline phosphatase
phenotype 0.100 None 0 0