PedAM

Pediatric Disease Annotations & Medicines


	gardner syndrome

Disease ID	1482
Disease	gardner syndrome
Definition	A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
Synonym	gardner syndrome (disorder) gardner syndrome [disease/finding] gardner syndromes gardner's syndrome gardner's syndromes gardners syndrome gs gs - gardner's syndrome polyposis, intestinal, iii polyposis-osteomatosis-epidermoid cyst syndrome, gardner syndrome, gardner's syndromes, gardner syndromes, gardner's
Orphanet	ORPHANET:79665
UMLS	C0017097
MeSH	D005736
SNOMED-CT	SNOMEDCT_US_2016_09_01:60876000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0010276 \| craniopharyngioma \| 2 C0032580 \| adenomatous polyposis \| 1 C0032580 \| familial adenomatous polyposis \| 1 C0001430 \| adenoma \| 1 C0011991 \| diarrhea \| 1 C0007115 \| thyroid cancer \| 1 C0949506 \| porokeratosis of mibelli \| 1 C0238137 \| gallbladder adenoma \| 1 C0162839 \| porokeratosis \| 1 C0007115 \| thyroid ca \| 1 C0016045 \| fibroma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) APC \| 324 \| CLINVAR;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1482
Disease	gardner syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0100245 \| Desmoid tumors \| 4 HP:0011069 \| Extra teeth \| 3 HP:0030062 \| Craniopharyngioma \| 2 HP:0010614 \| Fibroma \| 1 HP:0100246 \| Osteoma \| 1 HP:0002573 \| Bloody diarrhea \| 1 HP:0002664 \| Neoplasia \| 1 HP:0030731 \| Carcinoma \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0200044 \| Porokeratosis \| 1 HP:0002014 \| Diarrhea \| 1

Disease ID	1482
Disease	gardner syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C0079218 \| desmoid tumor \| 5 C0029440 \| osteomas \| 3 C0206646 \| mesenteric fibromatosis \| 3 C0016048 \| fibromatosis \| 3 C0029440 \| osteoma \| 1 C1532393 \| nuchal-type fibroma \| 1 C0032580 \| familial adenomatous polyposis \| 1 C0010276 \| craniopharyngioma \| 1 C0079218 \| desmoids \| 1 C0241060 \| cutaneous cysts \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913224	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112839521	AAAGA	-
rs137854567	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112819272	C	T
rs137854568	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112815564	C	T
rs137854569	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112815499	C	G
rs137854570	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112837732	C	G
rs137854580	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112827194	C	G,T
rs137854582	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112837687	T	A
rs137854583	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112780880	C	A,T
rs387906234	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112839987	AG	-
rs387906236	NA	324	APC	umls:C0017097	CLINVAR	NA	0.244810009	NA	APC	5	112840205	AG	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics