ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.100 None 0
CUI: C0027497
Disease: Nausea
Nausea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 0.100 None 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0338480
Disease: Common Migraine
Common Migraine
disease Nervous System Diseases Disease or Syndrome 77 62 0.100 None 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 29 0.300 None 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0751466
Disease: Phonophobia
Phonophobia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 18 1 0.100 None 0
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
phenotype Finding 9 3 0.300 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development
phenotype Finding 24 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 0
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification
phenotype Finding 13 0.100 None 0
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age
phenotype Finding 3 2 0.100 None 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain
phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
phenotype Finding 20 19 0.500 None 0
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
phenotype Finding 1 1 0.100 None 0 1
Elevated tissue non-specific alkaline phosphatase
phenotype Finding 1 0.100 None 0