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G |
Acad11 |
acyl-CoA dehydrogenase family, member 11 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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G |
Ackr4 |
atypical chemokine receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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G |
Acot7 |
acyl-CoA thioesterase 7 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,686,562...162,779,309
Ensembl chr 5:162,684,645...162,779,309
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|
G |
Adamts9 |
ADAM metallopeptidase with thrombospondin type 1 motif, 9 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:30609407 |
|
NCBI chr 4:125,290,633...125,462,988
Ensembl chr 4:125,291,490...125,462,929
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G |
Ahi1 |
Abelson helper integration site 1 |
|
ISS ISO |
ClinVar Annotator: match by term: Nephronophthisis |
MouseDO ClinVar |
PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 PMID:28492532 |
|
NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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G |
Ajap1 |
adherens junctions associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:163,907,846...164,021,004
Ensembl chr 5:163,907,847...164,020,317
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|
G |
Alg2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
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|
G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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|
G |
Anp32b |
acidic nuclear phosphoprotein 32 family member B |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717
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|
G |
Bfsp2 |
beaded filament structural protein 2 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:18371931 PMID:23559409 PMID:28492532 |
|
NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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|
G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
|
|
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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|
G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16199547 PMID:16682970 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17964524 PMID:19959640 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23847139 PMID:25377065 PMID:25741868 PMID:26047050 PMID:26092869 PMID:26673778 PMID:27422788 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28844315 PMID:29146704 PMID:29398085 PMID:29482223 PMID:29641573 PMID:30718709 PMID:30902645 PMID:31630094 PMID:32581362 PMID:32865313 PMID:33546218 More...
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|
NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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|
G |
Chd5 |
chromodomain helicase DNA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
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G |
Cntrl |
centriolin |
|
ISS |
|
MouseDO |
|
|
NCBI chr 3:18,428,147...18,500,362
Ensembl chr 3:18,428,103...18,500,380
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G |
Col15a1 |
collagen type XV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591
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G |
Coro2a |
coronin 2A |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:22425360 PMID:25741868 PMID:26092869 PMID:28087721 PMID:28125082 PMID:28431631 PMID:28492532 PMID:34008892 More...
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|
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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G |
Erp44 |
endoplasmic reticulum protein 44 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761
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G |
Espn |
espin |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
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G |
Evc |
EvC ciliary complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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G |
Fam186b |
family with sequence similarity 186, member B |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
|
NCBI chr 7:130,408,830...130,424,261
Ensembl chr 7:130,408,830...130,424,261
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|
G |
Foxe1 |
forkhead box E1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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|
G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
|
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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|
G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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|
G |
Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
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|
G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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|
G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 |
|
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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|
G |
Gpr153 |
G protein-coupled receptor 153 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,781,587...162,792,975
Ensembl chr 5:162,781,587...162,792,971
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|
G |
Hemgn |
hemogen |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669
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|
G |
Hes2 |
hes family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,667,190...162,668,235
Ensembl chr 5:162,667,190...162,668,235
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|
G |
Hes3 |
hes family bHLH transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,793,611...162,799,578
Ensembl chr 5:162,794,367...162,796,261
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|
G |
Icmt |
isoprenylcysteine carboxyl methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,804,368...162,811,129
Ensembl chr 5:162,804,368...162,811,128
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 More...
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|
NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
|
|
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Incenp |
inner centromere protein |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
|
NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265
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G |
Intu |
inturned planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:27158779 PMID:28492532 |
|
NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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G |
Invs |
inversin |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:9536098 PMID:12872123 PMID:16199547 PMID:16522655 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:23559409 PMID:23713026 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26489027 PMID:26862157 PMID:28492532 PMID:31131822 PMID:33532864 PMID:34298581 More...
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|
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
DNA:deletion, nonsense mutations, splice-site mutation:exon, intron:multiple ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:9536098 PMID:15723066 PMID:17576681 PMID:18076122 PMID:19430481 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23661368 PMID:23847139 PMID:24066033 PMID:24625443 PMID:24674142 PMID:25640679 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:26766544 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:30718709 PMID:18076122 More...
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RGD:11537341 |
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 |
|
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Kcnab2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:162,899,511...162,988,057
Ensembl chr 5:162,901,896...162,988,243
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:21552264 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Mall |
mal, T-cell differentiation protein-like |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:8852662 PMID:10620543 PMID:10839884 PMID:15138899 PMID:24746959 PMID:28492532 More...
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|
NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
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G |
Mkks |
MKKS centrosomal shuttling protein |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:25741868 PMID:25982971 PMID:28492532 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Nans |
N-acetylneuraminate synthase |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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G |
Ncbp1 |
nuclear cap binding protein subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
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G |
Nipbl |
NIPBL, cohesin loading factor |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
|
|
NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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G |
Nphp1 |
nephrocystin 1 |
|
ISO |
DNA:deletions, nonsense mutations:cds:multiple ClinVar Annotator: match by term: Nephronophthisis |
ClinVar RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:10620543 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:23559409 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26673778 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30773290 PMID:17855640 More...
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RGD:11065524 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:23686967 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28844315 PMID:28973083 PMID:28991257 PMID:29801666 PMID:30002499 PMID:31980526 PMID:32055034 PMID:32552793 PMID:33532864 PMID:17855640 More...
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RGD:11065524 |
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Nphp4 |
nephrocystin 4 |
|
ISO |
DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16199547 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:17954299 PMID:18076122 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23217326 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25558065 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:28492532 PMID:29127258 PMID:30143558 PMID:17855640 More...
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RGD:11065524 |
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
|
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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G |
Pias1 |
protein inhibitor of activated STAT, 1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
|
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
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NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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G |
Rbm48 |
RNA binding motif protein 48 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
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G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
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G |
Rnf207 |
ring finger protein 207 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
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NCBI chr 5:162,815,351...162,828,325
Ensembl chr 5:162,815,357...162,828,375
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
associated with Joubert Syndrome 7;DNA:mutations:exons: ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:18414213 PMID:19430481 PMID:20301500 PMID:23188109 PMID:25741868 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045 PMID:17558409 More...
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RGD:11073359 |
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Rpl22 |
ribosomal protein L22 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
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NCBI chr 5:162,835,251...162,841,977
Ensembl chr 5:162,833,740...162,843,368
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Sec61b |
SEC61 translocon subunit beta |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804
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G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:26026792 PMID:30143558 |
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NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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G |
Stx17 |
syntaxin 17 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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G |
Tbc1d2 |
TBC1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352
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G |
Tdrd7 |
tudor domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tmem108 |
transmembrane protein 108 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:18371931 PMID:23559409 PMID:28492532 |
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NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28289063 PMID:28492532 PMID:28497568 PMID:29568536 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Tmod1 |
tropomodulin 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
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G |
Tnfrsf25 |
TNF receptor superfamily member 25 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12205563 PMID:23559409 PMID:28492532 |
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NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341
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G |
Trim14 |
tripartite motif-containing 14 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,800,032...60,825,481
Ensembl chr 5:60,800,032...60,824,858
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G |
Trmo |
tRNA methyltransferase O |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423
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G |
Tstd2 |
thiosulfate sulfurtransferase like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 PMID:30655312 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:18371931 PMID:23559409 PMID:28492532 |
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NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
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G |
Wwtr1 |
WW domain containing transcription regulator 1 |
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ISS |
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MouseDO |
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NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
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G |
Xpa |
XPA, DNA damage recognition and repair factor |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17964524 PMID:19959640 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23847139 PMID:25377065 PMID:25741868 PMID:26047050 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29146704 PMID:29398085 PMID:29482223 PMID:29641573 PMID:30718709 PMID:30902645 PMID:31630094 PMID:32865313 PMID:33546218 More...
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NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:22425360 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 1 |
ClinVar |
PMID:10839884 PMID:10980528 |
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NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
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G |
Mtln |
mitoregulin |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 1 |
ClinVar |
PMID:10839884 PMID:10980528 |
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NCBI chr 3:115,018,810...115,019,668
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis DNA:mutations:exon, intron:multiple DNA:missense mutations:cds:p.R586X (human) DNA:deletion: : |
OMIM ClinVar RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:10980528 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26673778 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30773290 PMID:33532864 PMID:18076122 PMID:16762963 PMID:21258817 PMID:22982934 More...
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RGD:11537341, RGD:7246904, RGD:7246902, RGD:7246900 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28973083 PMID:31980526 PMID:32055034 PMID:32552793 PMID:33532864 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:12205563 PMID:15776426 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:28492532 PMID:30143558 More...
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NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:25741868 PMID:26026792 PMID:30143558 |
|
NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 11 DNA:missense mutations: :p.C615R (c.1843T>C), p.Q747E (c.2239C>G) (human) DNA:missense mutations: :multiple |
OMIM ClinVar RGD |
PMID:17160906 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:28289063 PMID:28492532 PMID:29127258 PMID:29974258 PMID:33532864 PMID:20607301 PMID:19508969 More...
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RGD:11535942, RGD:11535941 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 12 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:32173348 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 13 DNA:missense mutations, snps, insertion:multiple (human) DNA:missense mutation, nonsense mutation:cds:p.V345G, p.Y1023X (human) |
OMIM ClinVar RGD |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 PMID:25741897 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:32165824 PMID:33532864 PMID:26260382 PMID:22019273 More...
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RGD:11553845, RGD:11552603 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Zfp423 |
zinc finger protein 423 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30868567 PMID:32925911 More...
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NCBI chr19:19,111,538...19,407,371
Ensembl chr19:19,110,238...19,407,373
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Cep164 |
centrosomal protein 164 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17954613 PMID:22863007 PMID:24033266 PMID:25741868 PMID:28125082 PMID:28492532 PMID:32055034 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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Dscaml1 |
DS cell adhesion molecule-like 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 16 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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Cep83 |
centrosomal protein 83 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 18 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23530209 PMID:24882706 PMID:25741868 PMID:28492532 PMID:30655312 More...
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NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574
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Plxnc1 |
plexin C1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 18 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:29,390,038...29,543,985
Ensembl chr 7:29,390,048...29,543,779
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Dcdc2 |
doublecortin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 19 |
OMIM ClinVar |
PMID:25557784 PMID:25741868 PMID:27469900 PMID:28492532 PMID:31821705 |
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NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
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Erp44 |
endoplasmic reticulum protein 44 |
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ISO |
ClinVar Annotator: match by term: Infantile nephronophthisis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761
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Invs |
inversin |
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ISO |
ClinVar Annotator: match by term: Infantile nephronophthisis |
OMIM ClinVar |
PMID:2702088 PMID:12872123 PMID:16522655 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25525159 PMID:25741868 PMID:28492532 PMID:33532864 PMID:34298581 More...
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NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Infantile nephronophthisis |
ClinVar |
PMID:16199547 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Mapkbp1 |
mitogen activated protein kinase binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 20 |
OMIM ClinVar |
PMID:25741868 PMID:28089251 PMID:28492532 |
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NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 3 DNA:mutations:exon, intron:multiple |
OMIM ClinVar RGD |
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28844315 PMID:28921755 PMID:28973083 PMID:29801666 PMID:30002499 PMID:31980526 PMID:32055034 PMID:32552793 PMID:33532864 PMID:12872122 More...
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RGD:11071511 |
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 4 DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:nonsense mutation: :3272del (human) DNA:nonsense mutations, duplications:exon:multiple |
OMIM ClinVar RGD |
PMID:1248184 PMID:9536098 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16199547 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:21068128 PMID:21546380 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23217326 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25558065 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:28492532 PMID:29127258 PMID:33532864 PMID:12205563 PMID:14750102 PMID:18076122 More...
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RGD:11537355, RGD:11537342, RGD:11537341 |
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Glis2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 7 |
OMIM ClinVar |
PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 |
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NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Nek8 |
NIMA-related kinase 8 |
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ISO IAGP |
ClinVar Annotator: match by term: Nephronophthisis 9 compared to control Lewis |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:23026745 PMID:23418306 PMID:25741868 PMID:26967905 PMID:28492532 PMID:22899815 More...
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RGD:40924667 |
NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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Nek8lpkArc |
NIMA-related kinase 8; lpk mutant, Arc |
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IAGP |
compared to control Lewis |
RGD |
PMID:22899815 |
RGD:40924667 |
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Chadl |
chondroadherin-like |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
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Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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L3mbtl2 |
L3MBTL histone methyl-lysine binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
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Rangap1 |
RAN GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
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Rbx1 |
ring-box 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
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Xpnpep3 |
X-prolyl aminopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20179356 PMID:28492532 PMID:32660933 More...
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NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
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Zc3h7b |
zinc finger CCCH-type containing 7B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
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Slc41a1 |
solute carrier family 41 member 1 |
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ISO |
ClinVar Annotator: match by term: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 |
OMIM ClinVar |
PMID:23661805 |
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NCBI chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162
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