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: C0039621
Disease: Tetany
Tetany 		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: 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: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		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: C0004096
Disease: Asthma
Asthma 		disease 0.100 None 0 1
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: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		disease 0.800 None 0.966 5 8 1991 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		disease 0.800 strong 0.957 5 11 1991 2019
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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 2 1993 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		disease 0.700 strong 1.000 0 4 1997 2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		disease 0.800 strong 0.960 0 2 1997 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		disease 1.000 strong 1.000 6 11 1998 2018
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 0.941 2 3 1998 2020
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		disease 0.800 strong 0.955 2 3 2000 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype 0.150 None 0.800 0 2 2001 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		disease 0.730 strong 1.000 0 5 2002 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.490 None 1.000 0 1 2003 2018
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.450 None 1.000 0 2 2003 2013
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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.130 None 1.000 0 1 2010 2015