PedAM

Pediatric Disease Annotations & Medicines


	mosaic variegated aneuploidy syndrome 1

Disease ID	1905
Disease	mosaic variegated aneuploidy syndrome 1
Definition	An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer.
Synonym	instability mitotic non disjunction syndrome mosaic variegated aneuploidy syndrome mosaic variegated aneuploidy syndrome (disorder) mva syndrome mva1
Orphanet	ORPHANET:1052
OMIM	OMIM:257300
DOID	DOID:0080141
UMLS	C1850343
SNOMED-CT	SNOMEDCT_US_2016_09_01:700056005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) BUB1B \| 701 \| CLINVAR;CTD_human;ORPHANET;UNIPROT CEP57 \| 9702 \| CTD_human;ORPHANET BUB3 \| 9184 \| ORPHANET BUB1 \| 699 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1905
Disease	mosaic variegated aneuploidy syndrome 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1905
Disease	mosaic variegated aneuploidy syndrome 1
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:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs28989181	NA	701	BUB1B	umls:C1850343	CLINVAR	NA	0.561900093	NA	BUB1B	15	40212643	C	T
rs28989181	15475955	701	BUB1B	umls:C1850343	UNIPROT	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	0.561900093	2004	BUB1B	15	40212643	C	T
rs28989182	15475955	701	BUB1B	umls:C1850343	UNIPROT	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	0.561900093	2004	BUB1B	15	40212554	G	A
rs28989182	NA	701	BUB1B	umls:C1850343	CLINVAR	NA	0.561900093	NA	BUB1B	15	40212554	G	A
rs28989183	15475955	701	BUB1B	umls:C1850343	UNIPROT	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	0.561900093	2004	BUB1B;BUB1B-PAK6	15	40217580	G	C
rs28989184	15475955	701	BUB1B	umls:C1850343	UNIPROT	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	0.561900093	2004	BUB1B;BUB1B-PAK6	15	40217543	T	C
rs28989185	15475955	701	BUB1B	umls:C1850343	UNIPROT	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	0.561900093	2004	BUB1B;BUB1B-PAK6	15	40220641	T	C
rs28989186	NA	701	BUB1B	umls:C1850343	CLINVAR	NA	0.561900093	NA	BUB1B	15	40176672	C	T
rs28989187	15475955	701	BUB1B	umls:C1850343	UNIPROT	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.	0.561900093	2004	BUB1B	15	40202609	G	A
rs28989187	NA	701	BUB1B	umls:C1850343	CLINVAR	NA	0.561900093	NA	BUB1B	15	40202609	G	A

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.)

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