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: C0346429
Disease: Multiple malignancy
Multiple malignancy 		phenotype Neoplasms Neoplastic Process 163 3 0.010 None 1.000 1 2010 2010
CUI: C0271862
Disease: Idiopathic parathyroidism
Idiopathic parathyroidism 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.010 None 1.000 1 1 2019 2019
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2000 2000
CUI: C0266153
Disease: Ectopic gastric tissue
Ectopic gastric tissue 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.010 None 1.000 1 2015 2015
CUI: C0265593
Disease: Brachymetacarpia
Brachymetacarpia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.010 None 1.000 1 2007 2007
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 7 9 0.010 None 1.000 1 2015 2015
CUI: C0262929
Disease: Myxoma of the Endocardium
Myxoma of the Endocardium 		disease Neoplasms Neoplastic Process 28 0.010 None 1.000 1 2009 2009
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2017 2017
CUI: C0236048
Disease: Polyposis, Gastric
Polyposis, Gastric 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 12 4 0.010 None 1.000 1 2014 2014
CUI: C0221271
Disease: Elastosis perforans serpiginosa
Elastosis perforans serpiginosa 		disease Skin and Connective Tissue Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2013 2013
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None < 0.001 1 2015 2015
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 31 6 0.010 None 1.000 1 1 2012 2012
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		group Neoplasms Neoplastic Process 491 20 0.010 None 1.000 1 2003 2003
CUI: C0206709
Disease: Cystadenoma, Serous
Cystadenoma, Serous 		disease Neoplasms Neoplastic Process 18 2 0.010 None 1.000 1 2018 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2014 2014
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2015 2015
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2014 2014
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 20 17 0.010 None 1.000 1 2016 2016
CUI: C0342346
Disease: Pseudohypoparathyroidism and pseudopseudohypoparathyroidism
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		disease Neoplasms; Endocrine System Diseases Disease or Syndrome 51 6 0.010 None 1.000 1 2010 2010
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 211 49 0.010 None 1.000 1 1 2009 2009
CUI: C0338078
Disease: Non-Functioning Pituitary Gland Neoplasm
Non-Functioning Pituitary Gland Neoplasm 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 56 2 0.010 None 1.000 1 2008 2008
CUI: C0334307
Disease: Tubulovillous adenoma
Tubulovillous adenoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2012 2012
CUI: C0302840
Disease: Toxic thyroid adenoma
Toxic thyroid adenoma 		disease Neoplasms; Endocrine System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2008 2008