Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100532724
Gene name Gene Name - the full gene name approved by the HGNC.
NPHP3-ACAD11 readthrough (NMD candidate)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPHP3-ACAD11
Synonyms (NCBI Gene) Gene synonyms aliases
NPHP3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NPHP3
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
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Epileptic encephalopathy EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
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27545681, 27545674
Meckel syndrome Renal hepatic pancreatic dysplasia Dandy Walker cyst rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187
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Nephronophthisis Nephronophthisis, NEPHRONOPHTHISIS 3 rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
12872122, 19303681, 19177160, 20007846, 18371931, 23559409, 26673778, 28921755