About: NPHP3 gene|NPHP3

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About: NPHP3 gene|NPHP3 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 NPHP3 gene\|NPHP3 Semmed Gene
label	NPHP3 gene\|NPHP3 NPHP3 NXPH3\|NPHP3 nphp3
sameAs	NPHP3 (NIH - Gene)
http://semmed.demo...s#associated_with	Infant, Newborn, Diseases
http://semmed.demo....com/terms#causes	Multiple Organ Failure
terms:part_of	C0030705 Family Human Individual House mice Kidney Tubules, Proximal Chromosomes, Human, Pair 3
terms:causes	Fibrosis, Liver Situs Inversus Multiple Organ Failure Nephronophthisis Caroli Disease Retinal Degeneration Bilateral renal dysplasia Congenital cystic kidney disease POLYDACTYLY, POSTAXIAL Preauricular fistula
terms:location_of	Mutation mRNA Expression
terms:produces	DNA Sequence
terms:interacts_with	INVS gene\|INVS ANKS6 INVS gene\|INVS
terms:affects	Embryonic Development Phototropism
terms:coexists_with	Mutant Proteins beta catenin NPHP4 NXPH4
terms:stimulates	Phosphorylation Somatostatin\|SST Somatostatin\|SST
terms:associated_with	Nephronophthisis Infant, Newborn, Diseases
terms:neg_associated_with	Renal Cell Carcinoma Conventional (Clear Cell) Renal Cell Carcinoma
terms:disrupts	Cilia
terms:augments	Growth
terms:neg_location_of	Mutation
terms:neg_disrupts	Growth
schema:identifier	C1417783\|27031 27031 11248\|27031
AFFECTS	Embryonic Development
is type of	NPHP3 gene\|NPHP3
is sameAs of	NPHP3 gene\|NPHP3 NXPH3\|NPHP3
is terms:process_of of	Mutation Mutation, Missense
is terms:part_of of	Proteins Exons
is terms:location_of of	C0030705 Liver Body tissue Retina Child Mus cohort Arabidopsis Arabidopsis thaliana Young adult NODE Renal tubule structure Nerve Tissue Entire biliary tract Chromosomes, Human, Pair 9 Entire respiratory epithelium
is terms:interacts_with of	SUCLG2 UNC119 INVS gene\|INVS cullin-3\|CUL3 INVS gene\|INVS
is terms:affects of	Base Pairing
is terms:coexists_with of	INVS gene\|INVS
is terms:stimulates of	phototropin
is INTERACTS_WITH of	UNC119 INVS gene\|INVS
is PROCESS_OF of	Mutation
is AFFECTS of	Base Pairing

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