PedAM

Pediatric Disease Annotations & Medicines


	endocrine adenomatosis, multiple

Disease ID	1866
Disease	endocrine adenomatosis, multiple
Synonym	adenomatosis, polyglandular endocrine adenoma peptic ulcer complex mea 1 mea i mea type 1 mea type i mea, type 1 men 001 men 1 men 1 - multiple endocrine neoplasia syndrome type 1 men 1 syndrome men i men type 1 men type i men, type 1 men1 men1 syndrome mult endo neoplas type i multiple endocrine adenomatosis type 1 multiple endocrine adenomatosis type i multiple endocrine adenomatosis, type 1 multiple endocrine adenomatosis, type i multiple endocrine neopl type 1 multiple endocrine neoplasia [men] type i multiple endocrine neoplasia syndrome type 1 multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 1 (men1) multiple endocrine neoplasia type 1 [disease/finding] multiple endocrine neoplasia type 1 syndrome multiple endocrine neoplasia type i multiple endocrine neoplasia, type 1 multiple endocrine neoplasia, type 1 (disorder) multiple endocrine neoplasia, type i multiple endocrine neoplasms type 1 neopl multiple endocrine type 1 neoplasia multiple endocrine type 001 neoplasia, multiple endocrine type 1 neoplasms multiple endocrine type 001 neoplasms, multiple endocrine type 1 neoplasms, multiple endocrine type i wermer syndrome wermer's syndrome
Orphanet	ORPHANET:652
OMIM	OMIM:131100 OMIM:613733
DOID	DOID:10017
ICD10	ICD10CM:E31.21
MeSH	D018761
SNOMED-CT	SNOMEDCT_US_2016_09_01:30664006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) CDKN2C \| 1031 \| ORPHANET CDKN1A \| 1026 \| ORPHANET CDKN1B \| 1027 \| ORPHANET MEN1 \| 4221 \| CLINVAR;CTD_human;ORPHANET;UNIPROT CDKN2B \| 1030 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) 9049 \| AIP \| infer 1026 \| CDKN1A \| infer 1027 \| CDKN1B \| infer 1028 \| CDKN1C \| infer 1029 \| CDKN2A \| infer 1030 \| CDKN2B \| infer 1031 \| CDKN2C \| infer 1032 \| CDKN2D \| infer 4221 \| MEN1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1866
Disease	endocrine adenomatosis, multiple
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1866
Disease	endocrine adenomatosis, multiple
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:31)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894256	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64810045	A	C
rs104894258	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64807952	C	T
rs104894259	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1;MAP4K2	11	64805078	A	T,G
rs104894260	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1;MAP4K2	11	64805077	C	T
rs104894261	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1;MAP4K2	11	64804588	G	A
rs104894263	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809695	G	C
rs104894264	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1;MAP4K2	11	64805132	C	T,G
rs104894265	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64805758	G	T
rs104894266	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64807557	G	A
rs104894267	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1;MAP4K2	11	64804789	G	A
rs2071312	12112656	4221	MEN1	umls:C0025267	UNIPROT	Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.	0.687063012	2002	MEN1	11	64806272	C	T
rs28931612	9241276	4221	MEN1	umls:C0025267	UNIPROT	Thus, somatic MEN1 gene mutation contributes to tumorigenesis in a substantial number of parathyroid tumours not associated with the MEN1 syndrome.	0.687063012	1997	MEN1	11	64810034	C	T,A
rs386134245	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64806267	-	A
rs386134246	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64805757	G	-
rs386134247	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64805645	-	C
rs386134248	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809986	CCAGCA	-
rs386134249	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1;MAP4K2	11	64805122	C	T
rs386134250	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64810109	T	C
rs386134251	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809898	GG	-
rs386134253	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809857	-	A
rs386134254	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809693	G	C
rs386134255	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64808079	-	AATT
rs386134256	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64808042	A	G
rs386134257	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64807893	GCTCAGCCA	AGGGGC
rs386134258	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64807889	ACCCGCTC	-
rs386134259	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64807577	G	T,A
rs386134260	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64806345	G	C
rs386134261	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64806325	-	A
rs397515385	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809708	G	-
rs730882136	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64809903	-	GGGGC
rs786204242	NA	4221	MEN1	umls:C0025267	CLINVAR	NA	0.687063012	NA	MEN1	11	64810107	C	T

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.)