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: C0701163
Disease: Adrenogenital disorder
Adrenogenital disorder 		disease Endocrine System Diseases Disease or Syndrome 2 0.200 None 1.000 2 1997 2000
CUI: C3151055
Disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE 		disease Disease or Syndrome 2 8 0.010 None 1.000 1 2013 2013
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: C0334400
Disease: Sclerosing stromal tumor
Sclerosing stromal tumor 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2011 2011
CUI: C4721918
Disease: Fibrothecoma
Fibrothecoma 		disease Neoplasms Neoplastic Process 3 0.010 None < 0.001 1 2011 2011
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
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: C4476955
Disease: Impaired cortisol response to insulin stimulation test
Impaired cortisol response to insulin stimulation test 		phenotype Finding 5 0.100 None 0
CUI: C4531272
Disease: Decreased circulating dehydroepiandrosterone level
Decreased circulating dehydroepiandrosterone level 		phenotype Finding 5 0.100 None 0
CUI: C4022011
Disease: Leydig cell neoplasia
Leydig cell neoplasia 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 6 0.100 None 0
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype Finding 6 0.100 None 0
CUI: C0238650
Disease: ankle arthritis
ankle arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0039747
Disease: Thecoma
Thecoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C1846009
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 2006 2006
CUI: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 4 0.010 None 1.000 1 2020 2020
CUI: C4476786
Disease: Testicular adrenal rest tumor
Testicular adrenal rest tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 8 0.100 None 0
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		disease Disease or Syndrome 9 4 0.010 None 1.000 1 2010 2010
CUI: C2678045
Disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 10 3 0.010 None 1.000 1 2016 2016
CUI: C0221776
Disease: Oral pain
Oral pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 11 0.010 None 1.000 1 2018 2018
CUI: C0677483
Disease: Carcinoma testes
Carcinoma testes 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 11 2 0.010 None 1.000 1 1999 1999
CUI: C4721567
Disease: Theca cell tumor of ovary
Theca cell tumor of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 11 0.010 None 1.000 1 2011 2011
CUI: C0030581
Disease: Parotid Neoplasms
Parotid Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 12 2 0.010 None 1.000 1 2 2001 2001
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 18 0.300 None 1.000 1 2009 2009
CUI: C0206723
Disease: Sertoli-Leydig Cell Tumor
Sertoli-Leydig Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 13 1 0.010 None < 0.001 1 2011 2011
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 15 1 0.100 None 0