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: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 13 0.100 None 0 1
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0 1
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.100 None 0 1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 0.100 None 0 1
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		disease Digestive System Diseases Disease or Syndrome 49 3 0.100 None 0
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		disease Finding 16 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0 1
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 21 2 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0