STAR, steroidogenic acute regulatory protein, 6770

N. diseases: 177; N. variants: 39
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: C0004277
Disease: Tooth Attrition
Tooth Attrition 		disease Stomatognathic Diseases Acquired Abnormality 66 5 0.010 None 1.000 1 2009 2009
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2013 2013
CUI: C0036875
Disease: Disorders of Sex Development
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 39 6 0.030 None 1.000 3 1 2013 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2013 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.110 None 1.000 1 2017 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2018 2018
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2010 2010
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.010 None 1.000 1 2012 2012
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2018 2018
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2015 2015
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		disease Congenital Abnormality 31 1 0.010 None 1.000 1 2006 2006
CUI: C4331349
Disease: Steroidogenic Acute Regulatory Protein Deficiency
Steroidogenic Acute Regulatory Protein Deficiency 		disease Congenital Abnormality 2 0.010 None 1.000 1 2005 2005
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 34 0.800 None 1.000 67 34 1995 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.560 None 1.000 7 1999 2019
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.060 None 0.833 6 3 2009 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 122 34 0.050 None 1.000 5 1997 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.040 None 1.000 4 2006 2020
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.040 None 1.000 4 1 2010 2017
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.140 None 1.000 4 2011 2019
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease Endocrine System Diseases Disease or Syndrome 52 5 0.040 None 1.000 4 1 2010 2017
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.040 None 1.000 4 2006 2020
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.030 None 1.000 3 2008 2009
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.030 None 1.000 3 2017 2019
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 4 0.030 None 1.000 3 2007 2010