Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 GermlineCausalMutation ORPHANET

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GermlineCausalMutation ORPHANET

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 GermlineCausalMutation ORPHANET

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		0.700 GermlineCausalMutation ORPHANET

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.480 GeneticVariation UNIPROT

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma 		0.420 CausalMutation CGI

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation CGI

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		0.400 CausalMutation CGI

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.300 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.300 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.300 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.300 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		0.300 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2713447
Disease: Hyperpotassemia and Hypertension, Familial
Hyperpotassemia and Hypertension, Familial 		0.300 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP. 21488135

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 Biomarker CTD_human A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 17299070

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.700 Biomarker CTD_human A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 17299070

2007