BRD2, bromodomain containing 2, 6046

N. diseases: 303; N. variants: 20
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: C1276238
Disease: Delayed adrenarche
Delayed adrenarche 		disease Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0266652
Disease: Abnormal fetus
Abnormal fetus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 2 0.010 None 1.000 1 1985 1985
CUI: C2936421
Disease: Sex Chromosome Disorders of Sex Development
Sex Chromosome Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		disease Male Urogenital Diseases Disease or Syndrome 3 5 0.040 None 1.000 4 2002 2019
CUI: C1960447
Disease: Hypergonadotropic amenorrhea
Hypergonadotropic amenorrhea 		disease Disease or Syndrome 3 0.030 None 1.000 3 2006 2011
CUI: C0745411
Disease: irregular bleeding
irregular bleeding 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2013 2013
CUI: C4050314
Disease: ROSE Cluster 3
ROSE Cluster 3 		disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C0854258
Disease: Pseudoprecocious puberty
Pseudoprecocious puberty 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 2017 2017
CUI: C1384582
Disease: Primary testicular failure
Primary testicular failure 		disease Endocrine System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2007 2007
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 2017 2017
CUI: C0234507
Disease: Anosognosia
Anosognosia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0346304
Disease: Gonadotroph adenoma
Gonadotroph adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 5 0.010 None 1.000 1 1997 1997
CUI: C0342510
Disease: Ovarian dysgenesis
Ovarian dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 2 0.020 None 1.000 2 1996 1996
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 13 0.020 None 1.000 2 1999 2014
CUI: C0393720
Disease: Reflex Epilepsy, Photosensitive
Reflex Epilepsy, Photosensitive 		disease Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2012 2012
CUI: C0553573
Disease: Primary infertility
Primary infertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2013 2013
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 7 0.010 None 1.000 1 2017 2017
CUI: C1864873
Disease: Testicular Microlithiasis
Testicular Microlithiasis 		disease Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 4 0.010 None < 0.001 1 2009 2009
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2017 2017
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 12 0.010 None 1.000 1 2015 2015
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C4075603
Disease: Occult chronic type B viral hepatitis
Occult chronic type B viral hepatitis 		disease Digestive System Diseases; Infections Disease or Syndrome 13 4 0.040 None 1.000 4 2010 2019
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		phenotype Endocrine System Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2007 2007
CUI: C0700502
Disease: Acquired hypothyroidism
Acquired hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 1991 1991
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 14 10 0.010 None 1.000 1 2018 2018