GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GeneticVariation disease CLINVAR
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease CTD_human
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease HPO
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 CausalMutation disease CLINVAR
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation disease CLINVAR
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 CausalMutation disease CLINVAR
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 GeneticVariation disease CLINVAR
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 GermlineCausalMutation disease ORPHANET
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.700 Biomarker disease HPO
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.700 Biomarker disease MGD
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 Biomarker disease CTD_human
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 CausalMutation disease CLINVAR
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		0.650 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.510 Biomarker disease MGD
CUI: C0028754
Disease: Obesity
Obesity 		0.490 CausalMutation disease CLINVAR
CUI: C0028754
Disease: Obesity
Obesity 		0.490 Biomarker disease HPO