Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 10 1 1993 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 10 1 1993 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0239479
Disease: Round face
Round face 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C2675383
Disease: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C4540536
Disease: PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 		disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		disease 0.110 None 1.000 0 1 2005 2005
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		disease 0.100 None 0 1