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: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 34 4 0.700 None 0.963 82 1 1991 2019
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 45 10 0.800 None 0.966 59 8 1991 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.941 51 6 1998 2020
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia
disease Congenital Abnormality 53 5 0.100 None 1.000 35 3 1996 2019
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.100 None 1.000 23 1 1995 2018
Pancreatic Intraductal Papillary Mucinous Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 84 8 0.100 None 0.933 15 1 2011 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.100 None 0.857 14 2011 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 14 1 2000 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 1.000 11 2 2003 2019
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma
disease Neoplasms Neoplastic Process 159 10 0.100 None 0.900 10 1 2013 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 10 1 1993 2017
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: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata
disease Musculoskeletal Diseases Disease or Syndrome 19 0.200 None 1.000 10 2003 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.480 None 1.000 9 2 2005 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.490 None 1.000 9 2 2003 2018
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia
disease Musculoskeletal Diseases Congenital Abnormality 18 2 0.650 None 1.000 9 1 1991 2017
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 139 20 0.460 None 0.875 8 1 1991 2017
Growth Hormone-Secreting Pituitary Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 60 5 0.370 None 1.000 8 1 2001 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.460 None 1.000 7 3 1998 2006
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.160 None 0.833 6 2000 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.060 None 0.667 6 1 2003 2020
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.160 None 1.000 6 1995 2017
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.450 None 1.000 6 3 2003 2013
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.350 None 0.800 5 1 1991 2017