About: LAMB2

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About: LAMB2 Goto Sponge NotDistinct Permalink

An Entity of Type : semmed:Gene, within Data Space : semmed.demo.openlinksw.com associated with source document(s)

Attributes	Values
type	aapp gngm LAMB2 Semmed Gene
label	LAMB2 LAMB2 gene\|LAMB2 lamb2
sameAs	LAMB2 (NIH - Gene)
http://semmed.demo....com/terms#causes	Myasthenic Syndromes, Congenital
http://semmed.demo...terms#location_of	Mutation
http://semmed.demo...om/terms#inhibits	laminin-9
http://semmed.demo...om/terms#augments	mRNA Expression
terms:part_of	C0030705 Girls
terms:causes	Syndrome Vision Dysplasia Renal glomerular disease Sclerosis Failure to Thrive Eye Abnormalities Myasthenic Syndromes, Congenital Congenital nephrotic syndrome NOS
terms:location_of	Mutation Translation, Genetic Splice-Site Mutation
terms:affects	Pathogenesis Motility Cell Adhesion
terms:inhibits	laminin-9
terms:associated_with	Syndrome Nephrotic Syndrome Myasthenic Syndromes, Congenital Congenital nephrotic syndrome NOS
terms:neg_affects	Eye
terms:augments	mRNA Expression
LOCATION_OF	Mutation Splice-Site Mutation
ASSOCIATED_WITH	Congenital nephrotic syndrome NOS
schema:identifier	3913 C1416781\|3913
PART_OF	Girls
CAUSES	Syndrome Vision Dysplasia Renal glomerular disease Sclerosis Failure to Thrive Eye Abnormalities Congenital nephrotic syndrome NOS
AFFECTS	Pathogenesis
is type of	LAMB2
is sameAs of	LAMB2 gene\|LAMB2
is http://semmed.demo.../terms#process_of of	Mutation
is http://semmed.demo...terms#location_of of	Family Child cohort
is terms:process_of of	Mutation Gene Mutation Mutate Translation, Genetic Mutation, Missense
is terms:part_of of	Exons
is terms:location_of of	C0030705 Family Body tissue member Child Mus Girls cohort granulosa cell Bicuspid Chromosomes, Human, Pair 1
is terms:interacts_with of	RNA-Binding Proteins
is terms:coexists_with of	Dinucleotide Repeats B3GNT2\|B3GNTL1 Receptor Gene B3GNT2\|B3GNTL1
is terms:neg_process_of of	Mutation
is terms:neg_location_of of	C0030705
is LOCATION_OF of	C0030705 member Girls granulosa cell Bicuspid
is COEXISTS_WITH of	Dinucleotide Repeats
is PART_OF of	Exons
is PROCESS_OF of	Mutation Gene Mutation Mutate Mutation, Missense
is NEG_PROCESS_OF of	Mutation

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