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	hereditary diffuse gastric cancer

Disease ID	1834
Disease	hereditary diffuse gastric cancer
Definition	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.
Synonym	gastric cancer, familial diffuse gastric cancer, hereditary diffuse hereditary diffuse carcinoma of stomach hereditary diffuse carcinoma of stomach (disorder) hereditary diffuse gastric adenocarcinoma
Orphanet	ORPHANET:26106
OMIM	OMIM:137215
UMLS	C1708349
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0024623 \| gastric cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 1495 \| CTNNA1 \| ORPHANET 999 \| CDH1 \| CLINVAR;ORPHANET;UNIPROT 9064 \| MAP3K6 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:3) CTNNA1 \| 5q31.2 CDH1 \| 16q22.1 MAP3K6 \| 1p36.11

Disease ID	1834
Disease	hereditary diffuse gastric cancer
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0012126 \| Gastric cancer \| 1

Disease ID	1834
Disease	hereditary diffuse gastric cancer
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs116093741	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68812144	A	G,T
rs121964871	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68823593	C	G
rs121964872	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68833362	A	G
rs121964874	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68823557	C	A,G,T
rs121964875	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68738307	G	A
rs121964876	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68738318	G	T
rs121964877	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68822081	C	T
rs121964878	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68822190	C	T
rs267606712	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68811859	G	T
rs33935154	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68822138	G	A
rs35572355	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68833344	G	A,C
rs35572355	12216071	999	CDH1	umls:C1708349	UNIPROT	E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer.	0.388501397	2002	CDH1	16	68833344	G	A,C
rs587776398	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68812149	T	C,G
rs587780113	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68815760	G	A,T
rs587780537	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68810224	G	A
rs587780784	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68811854	C	G,T
rs587780787	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68828296	G	T
rs587783047	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68801693	C	T
rs587783048	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68829756	C	-
rs587783050	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68812263	G	A
rs786204165	NA	999	CDH1	umls:C1708349	CLINVAR	NA	0.388501397	NA	CDH1	16	68823524	TG	-

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.)

Disease ID	1834
Disease	hereditary diffuse gastric cancer
Case	(Waiting for update.)