juvenile polyposis syndrome

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Information

Disease name: juvenile polyposis syndrome
Disease ID: DOID:0050787
Description: "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
SMAD4	18	51,030,209	51,085,042	4
SMARCA4	19	10,961,001	11,062,256	2
PTCH2	1	44,821,938	44,843,253	2
ERCC5	13	102,846,032	102,875,995	2
MET	7	116,672,196	116,798,377	2
MSH6	2	47,783,145	47,806,953	2
FBXO11	2	47,806,920	47,906,498	2
BIVM-ERCC5	13	102,799,110	102,875,994	2
BMPR1A	10	86,756,619	86,927,969	2

Annotation

Genes	Mutation	Description	Source	Links

NCT ID	Status	Phase	Summary	Start date	Completion date
NCT00633607	Completed		Hereditary Colorectal and Associated Tumor Registry Study	April 2012	January 26, 2018