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: C0271862
Disease: Idiopathic parathyroidism
Idiopathic parathyroidism 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
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
CUI: C1864105
Disease: Low urinary cyclic AMP response to PTH administration
Low urinary cyclic AMP response to PTH administration 		phenotype Finding 3 0.100 None 0
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 5 0.800 strong 0.955 22 4 2000 2019
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 0.730 strong 1.000 4 5 2002 2017
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 0.300 None 1.000 1 2011 2011
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: C4014803
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 		disease Disease or Syndrome 4 13 0.010 None 1.000 1 2018 2018
CUI: C0020494
Disease: Hyperostosis Frontalis Interna
Hyperostosis Frontalis Interna 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0342198
Disease: Thyrotoxicosis due to pituitary thyroid hormone resistance
Thyrotoxicosis due to pituitary thyroid hormone resistance 		disease Endocrine System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1863402
Disease: Broad distal phalanx of the thumb
Broad distal phalanx of the thumb 		phenotype Finding 4 0.100 None 0
CUI: C4021649
Disease: Short fifth metatarsal
Short fifth metatarsal 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C4025760
Disease: Primary hypercortisolism
Primary hypercortisolism 		disease Disease or Syndrome 4 0.100 None 0
CUI: C0405578
Disease: Gigantism and acromegaly
Gigantism and acromegaly 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C1708747
Disease: Low grade appendiceal mucinous neoplasm
Low grade appendiceal mucinous neoplasm 		disease Neoplastic Process 5 0.010 None 1.000 1 2020 2020
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 5 4 0.100 None 0 1
CUI: C0029440
Disease: Osteoma
Osteoma 		disease Neoplasms Neoplastic Process 6 1 0.110 None 1.000 1 2008 2008
CUI: C4551853
Disease: Diaphyseal sclerosis
Diaphyseal sclerosis 		phenotype Finding 6 0.100 None 0
CUI: C0154143
Disease: Toxic multinodular goiter
Toxic multinodular goiter 		disease Endocrine System Diseases Disease or Syndrome 7 3 0.020 None 1.000 2 2010 2010
CUI: C0206642
Disease: Parosteal Osteosarcoma
Parosteal Osteosarcoma 		disease Neoplasms Neoplastic Process 7 0.020 None 1.000 2 2014 2015
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 7 0.020 None 1.000 2 1998 2013
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 1 0.110 None 1.000 1 1 2005 2005
CUI: C0020627
Disease: Hypopharyngeal Neoplasms
Hypopharyngeal Neoplasms 		group Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 7 0.010 None 1.000 1 2008 2008
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