GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
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: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.330 None 1.000 4 1 2007 2014
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		group Endocrine System Diseases Disease or Syndrome 74 0.320 None 1.000 4 1991 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.320 None 1.000 2 2003 2010
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		phenotype Endocrine System Diseases Disease or Syndrome 13 2 0.310 None 1.000 3 1 1991 2006
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.310 None 1.000 2 2003 2014
CUI: C0016064
Disease: Fibrous Dysplasia, Monostotic
Fibrous Dysplasia, Monostotic 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.310 None 1.000 2 1999 2000
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.310 None 1.000 2 2007 2012
CUI: C3697137
Disease: Fibrous dysplasia of bone with intramuscular myxoma
Fibrous dysplasia of bone with intramuscular myxoma 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.310 None 1.000 2 2012 2019
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.300 None 1.000 2 1991 1992
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 14 10 0.300 None 1.000 2 1991 1992
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 32 2 0.300 None 1.000 2 1991 1992
CUI: C0011573
Disease: Endogenous depression
Endogenous depression 		disease Mental Disorders Mental or Behavioral Dysfunction 53 0.300 None 1.000 1 2010 2010
CUI: C0242184
Disease: Hypoxia
Hypoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.300 None 1.000 1 2010 2010
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 80 5 0.300 None 1.000 1 2002 2002
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2001 2001
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.300 None 1.000 1 1998 1998
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.300 None 1.000 1 2011 2011
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders 		group Respiratory Tract Diseases Disease or Syndrome 208 6 0.300 None 1.000 1 1998 1998
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2001 2001
CUI: C0023897
Disease: Liver Diseases, Parasitic
Liver Diseases, Parasitic 		group Digestive System Diseases; Infections Disease or Syndrome 9 0.300 None 1.000 1 2012 2012
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.300 None 1.000 1 2006 2006
CUI: C0019087
Disease: Hemorrhagic Disorders
Hemorrhagic Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 30 3 0.300 None 1.000 1 2001 2001
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 119 3 0.300 None 1.000 1 2012 2012
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 18 0.300 None 1.000 1 2001 2001
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.300 moderate 1.000 1 2000 2000