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: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.100 None 1.000 35 3 1996 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 10 2 1993 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 10 1 1993 2017
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		disease Neoplastic Process 50 2 0.050 None 1.000 5 1 2013 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 4 3 2018 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 4 3 2018 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		phenotype Laboratory Procedure 90 174 0.100 None 1.000 3 3 2012 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 1 2005 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 2 2 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 0.500 2 2013 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2008 2011
CUI: C0280321
Disease: Squamous cell carcinoma of the hypopharynx
Squamous cell carcinoma of the hypopharynx 		disease Neoplastic Process 103 3 0.010 None 1.000 1 1 2008 2008
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 1 1 2018 2018
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		disease Disease or Syndrome 14 0.010 None 1.000 1 2003 2003
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: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.010 None < 0.001 1 2017 2017
CUI: C1142276
Disease: Renal anemia
Renal anemia 		disease Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2008 2008
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		disease Disease or Syndrome 81 29 0.010 None 1.000 1 2018 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2014 2014
CUI: C1707332
Disease: Cellular Myxoma
Cellular Myxoma 		disease Neoplastic Process 1 0.010 None < 0.001 1 2012 2012
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: C1709780
Disease: Pyloric Gland Adenoma
Pyloric Gland Adenoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2013 2013