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: C0016064
Disease: Fibrous Dysplasia, Monostotic
Fibrous Dysplasia, Monostotic 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.310 None 1.000 2 1999 2000
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: C0281952
Disease: Pseudohypothyroidism
Pseudohypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C1707332
Disease: Cellular Myxoma
Cellular Myxoma 		disease Neoplastic Process 1 0.010 None < 0.001 1 2012 2012
CUI: C2675383
Disease: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4016140
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C4024097
Disease: Broad 1st metacarpal
Broad 1st metacarpal 		phenotype Finding 1 0.100 None 0
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES 		disease Neoplastic Process 1 6 0.100 None 0 6
CUI: C4540536
Disease: PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 		disease Neoplastic Process 1 1 0.100 None 0 1
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: 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: C0796000
Disease: Multiple non-ossifying fibromatosis
Multiple non-ossifying fibromatosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C1333119
Disease: Colorectal Villous Adenoma
Colorectal Villous Adenoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2012 2012
CUI: C1709780
Disease: Pyloric Gland Adenoma
Pyloric Gland Adenoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2013 2013
CUI: C1710140
Disease: Sparsely Granulated Somatotroph Adenoma
Sparsely Granulated Somatotroph Adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 2 0.010 None 1.000 1 2013 2013
CUI: C4072940
Disease: Ossifying fibroma of the jaw
Ossifying fibroma of the jaw 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 2 2 0.010 None 1.000 1 2013 2013
CUI: C1850631
Disease: Short 3rd metacarpal
Short 3rd metacarpal 		phenotype Finding 2 0.100 None 0
CUI: C1863184
Disease: Choroid plexus calcification
Choroid plexus calcification 		phenotype Pathologic Function 2 0.100 None 0
CUI: C3806226
Disease: Ectopic calcification
Ectopic calcification 		phenotype Finding 2 0.100 None 0
CUI: C4023096
Disease: Ectopic ossification in muscle tissue
Ectopic ossification in muscle tissue 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 0.100 None 0
CUI: C4025151
Disease: Increased bone density with cystic changes
Increased bone density with cystic changes 		phenotype Musculoskeletal Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C4025174
Disease: Large cafe-au-lait macules with irregular margins
Large cafe-au-lait macules with irregular margins 		phenotype Finding 2 1 0.100 None 0
CUI: C4025515
Disease: Cortical subperiosteal resorption of humeral metaphyses
Cortical subperiosteal resorption of humeral metaphyses 		phenotype Finding 2 0.100 None 0
CUI: C4025822
Disease: Abnormality of the parathyroid gland
Abnormality of the parathyroid gland 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0151241
Disease: Atrial myxoma
Atrial myxoma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 3 0.010 None 1.000 1 2014 2014