Details of GNAS gene in Homo sapiens

IDs
Link outs	Gene Name	Alias	Uniprot ID	SwissProt ID	NCBI gene ID	ENSEMBL ID	Description	Source
	GNAS	GNAS1	Q5JWF2	GNAS1_HUMAN	2778	O75684	O75685	---

Disease
Disease	OMIM id
GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency	brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and
ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple	non-pigmented
Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone	and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented
GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency	brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and
Albright hereditary osteodystrophy (AHO) [MIM:103580]: A disorder characterized by short stature	round facies
Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]: A disorder characterized by end-organ resistance to parathyroid hormone	obesity
McCune-Albright syndrome (MAS) [MIM:174800]: Characterized by polyostotic fibrous dysplasia	and a variety of endocrine disorders
Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include somatotropinoma and prolactinoma. Note=The disease is caused by mutations affecting the gene represented in this entry.	102200
Progressive osseous heteroplasia (POH) [MIM:166350]: Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood	139320
ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple	non-pigmented
Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone	and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented
GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency	brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to parathyroid hormone	obesity
ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple	non-pigmented
Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone	and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented
Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps	and genetic family history. Note=The disease may be caused by mutations affecting the gene represented in this entry.
GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency	brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and
ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple	non-pigmented
Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone	and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to parathyroid hormone	obesity

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Orthologs in other species
M. musculus	D. melonogaster	C. elegans	S. purpuratus