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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23793029 |
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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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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
|
ISO |
|
RGD |
PMID:27153923 |
RGD:11553938 |
NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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G |
Bicc1 |
BicC family RNA binding protein 1 |
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ISS |
|
MouseDO |
|
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NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
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G |
Cep290 |
centrosomal protein 290 |
|
ISS |
|
MouseDO |
|
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 |
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NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
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G |
Dnm2 |
dynamin 2 |
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ISS |
|
MouseDO |
|
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NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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G |
Ephb4 |
EPH receptor B4 |
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ISS |
|
MouseDO |
|
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18604206 |
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9879822 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Invs |
inversin |
|
ISO |
|
RGD |
PMID:24586938 |
RGD:155794377 |
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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G |
Lama5 |
laminin subunit alpha 5 |
|
ISS |
|
MouseDO |
|
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
DNA:missense mutation: :p.I614S (mouse) |
RGD |
PMID:18371931 |
RGD:11352488 |
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Pax2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
|
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NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:11115377 PMID:11967008 PMID:19515475 PMID:22508176 PMID:25741868 PMID:26467025 More...
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 PMID:27225849 PMID:28492532 |
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Robo1 |
roundabout guidance receptor 1 |
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ISS |
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MouseDO |
|
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NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
RGD |
PMID:17558409 |
RGD:11073359 |
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20835237 |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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G |
Slit2 |
slit guidance ligand 2 |
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ISS |
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MouseDO |
|
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NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystic kidney disease |
CTD MouseDO 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 |
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ISS |
|
MouseDO |
|
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
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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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G |
Bicc1 |
BicC family RNA binding protein 1 |
|
ISS |
|
MouseDO |
|
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NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
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G |
Brd4 |
bromodomain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25877301 |
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NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
C9 |
complement C9 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
protein:altered localization:kidney,urine |
RGD |
PMID:20555320 |
RGD:7204130 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:17714589 |
RGD:2289666 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cfb |
complement factor B |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Dkk3 |
dickkopf WNT signaling pathway inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
|
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NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
Dspp |
dentin sialophosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Edn1 |
endothelin 1 |
|
ISO |
mRNA, protein:increased expression:kidney (human) |
RGD |
PMID:12629276 |
RGD:4144854 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Fam13a |
family with sequence similarity 13, member A |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
protein: increased expression: kidney |
RGD |
PMID:16049073 |
RGD:7242198 |
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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G |
Ganab |
glucosidase II alpha subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
CTD ClinVar |
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NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
mRNA,protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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G |
Gprin3 |
GPRIN family member 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:88,572,062...88,657,369
Ensembl chr 4:88,563,607...88,657,429
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
protein:increased expression:kidney: |
RGD |
PMID:12388382 |
RGD:7245969 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Herc3 |
HECT and RLD domain containing E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:87,952,202...88,042,492
Ensembl chr 4:87,952,274...88,042,488
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G |
Herc6 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:87,524,470...87,566,895
Ensembl chr 4:87,524,493...87,581,744
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G |
Hsd17b11 |
hydroxysteroid (17-beta) dehydrogenase 11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,693,304...5,743,157
Ensembl chr14:5,711,964...5,743,161
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G |
Hsd17b13 |
hydroxysteroid (17-beta) dehydrogenase 13 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166
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G |
Ibsp |
integrin-binding sialoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,439,825...5,452,570
Ensembl chr14:5,439,829...5,452,693
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26968735 PMID:28492532 PMID:34890546 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 |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:decreased expression:urine (human) |
RGD |
PMID:9090470 |
RGD:6909172 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Itga8 |
integrin subunit alpha 8 |
|
ISO |
mRNA:increased expression:kidney |
RGD |
PMID:18277079 |
RGD:7257723 |
NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
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G |
Klhl8 |
kelch-like family member 8 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,807,795...5,853,325
Ensembl chr14:5,807,907...5,853,294
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G |
Lcn2 |
lipocalin 2 |
disease_progression |
ISO |
protein:increased expression:serum, urine |
RGD |
PMID:20921623 PMID:22258321 |
RGD:126781837, RGD:126790531 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lrp2 |
LDL receptor related protein 2 |
|
IEP |
|
RGD |
PMID:11841627 |
RGD:1641842 |
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Lrp5 |
LDL receptor related protein 5 |
susceptibility |
IAGP ISO |
DNA:missense mutation:cds:multiple mutations (human) ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:25920554 |
RGD:11553546 |
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Lrp6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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G |
Mepe |
matrix extracellular phosphoglycoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10644865 |
RGD:7207194 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:10644865 |
RGD:7207194 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:23195001 |
RGD:7245504 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO ISS |
mRNA:increased expression:kidney (mouse) CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:25877301 PMID:18356167 |
RGD:7207457 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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|
G |
Nap1l5 |
nucleosome assembly protein 1-like 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:88,022,670...88,024,988
Ensembl chr 4:88,022,569...88,024,654
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G |
Nphp3 |
nephrocystin 3 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
|
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G |
Nudt9 |
nudix hydrolase 9 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,675,376...5,693,332
Ensembl chr14:5,675,382...5,693,142
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|
G |
Onecut2 |
one cut homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
|
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NCBI chr18:57,831,647...57,890,884
Ensembl chr18:57,832,111...57,879,629
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G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis, class Y |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585
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|
G |
Pitx2 |
paired-like homeodomain 2 |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:20926632 |
RGD:5131995 |
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
severity |
ISO |
DNA:mutations:exons, intron:multiple ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R3277C (mouse) DNA:mutations:multiple |
ClinVar CTD RGD |
PMID:7581371 PMID:8004675 PMID:8845849 PMID:9199561 PMID:9285784 PMID:9521593 PMID:10200984 PMID:10364515 PMID:10854095 PMID:10923038 PMID:10987650 PMID:11058904 PMID:11115377 PMID:11216660 PMID:11840199 PMID:11857740 PMID:11967008 PMID:12070253 PMID:12089381 PMID:12482949 PMID:15772804 PMID:16430766 PMID:17574468 PMID:17582161 PMID:18077784 PMID:18640754 PMID:18791038 PMID:18837007 PMID:19165178 PMID:19401297 PMID:19515475 PMID:20301424 PMID:20558538 PMID:20950398 PMID:20981092 PMID:21115670 PMID:22008521 PMID:22090377 PMID:22333914 PMID:22383692 PMID:22508176 PMID:22608885 PMID:23064367 PMID:23266634 PMID:23300259 PMID:23431072 PMID:23760289 PMID:23985799 PMID:24033266 PMID:24374109 PMID:24611717 PMID:24694054 PMID:25029430 PMID:25333066 PMID:25646624 PMID:25741868 PMID:25877301 PMID:26139440 PMID:26453610 PMID:26467025 PMID:26632257 PMID:26661679 PMID:26823553 PMID:26950445 PMID:27165007 PMID:27499327 PMID:27567292 PMID:27782177 PMID:27835667 PMID:27884173 PMID:27894351 PMID:28378423 PMID:28522688 PMID:28815929 PMID:28887310 PMID:29270497 PMID:29520754 PMID:29633482 PMID:29650765 PMID:29801666 PMID:30333007 PMID:30369598 PMID:31056860 PMID:31157564 PMID:31738409 PMID:31740684 PMID:32203225 PMID:32381729 PMID:32457805 PMID:32816041 PMID:33168999 PMID:33226606 PMID:33437033 PMID:33532864 PMID:33939064 PMID:35778421 PMID:37419908 PMID:38177409 PMID:8554072 PMID:23064367 PMID:21115670 More...
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RGD:1601399, RGD:7175280, RGD:7175279 |
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pkd2 |
polycystin 2, transient receptor potential cation channel |
onset |
ISO ISS |
DNA:mutations:multiple ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:8650545 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 PMID:9949210 PMID:10405208 PMID:10411676 PMID:10417277 PMID:10497221 PMID:10541293 PMID:10648666 PMID:10655555 PMID:10760080 PMID:10835625 PMID:11007674 PMID:11967008 PMID:11968093 PMID:12089381 PMID:12707387 PMID:12842373 PMID:14993477 PMID:15001556 PMID:15192819 PMID:15772804 PMID:15775720 PMID:16199547 PMID:16223735 PMID:16430766 PMID:16540757 PMID:17100995 PMID:17303584 PMID:17574468 PMID:17576681 PMID:17582161 PMID:17699277 PMID:18178578 PMID:18257781 PMID:18664456 PMID:18837007 PMID:19158373 PMID:19491093 PMID:19556541 PMID:19936001 PMID:20168298 PMID:20439752 PMID:20881056 PMID:20950398 PMID:21115670 PMID:21551026 PMID:22008521 PMID:22034641 PMID:22114106 PMID:22185115 PMID:22367170 PMID:22383692 PMID:22508176 PMID:22797899 PMID:22863349 PMID:22995991 PMID:23300259 PMID:23376035 PMID:24113780 PMID:24374109 PMID:24611717 PMID:24658975 PMID:24719335 PMID:25149526 PMID:25333066 PMID:25491204 PMID:25574838 PMID:25646624 PMID:25741868 PMID:25877301 PMID:26453610 PMID:26467025 PMID:26489027 PMID:26692149 PMID:26920127 PMID:26950445 PMID:27071085 PMID:27165007 PMID:27401137 PMID:27499327 PMID:27567292 PMID:27768895 PMID:27782177 PMID:27884173 PMID:27894351 PMID:27991905 PMID:28356211 PMID:28492532 PMID:28522688 PMID:28887310 PMID:29038287 PMID:29321346 PMID:29338003 PMID:29378535 PMID:29520754 PMID:29529603 PMID:29633482 PMID:30333007 PMID:30369598 PMID:30586318 PMID:30639418 PMID:30816285 PMID:30820006 PMID:30883612 PMID:30989420 PMID:31056860 PMID:31317121 PMID:31488014 PMID:31589614 PMID:31740684 PMID:31948117 PMID:31979107 PMID:32332171 PMID:32384474 PMID:32457805 PMID:32816041 PMID:32970388 PMID:33095447 PMID:33168999 PMID:33437033 PMID:33454723 PMID:33532864 PMID:33569422 PMID:33639313 PMID:33964006 PMID:34101167 PMID:35497784 PMID:35778421 PMID:22863349 PMID:21115670 More...
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RGD:7175273, RGD:7175279 |
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 |
ClinVar |
PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16876319 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:22415584 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25124979 PMID:25193386 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26489027 PMID:26489029 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28862642 PMID:29068549 PMID:29801666 PMID:29956005 PMID:30275481 PMID:30507656 PMID:30650191 PMID:30773290 PMID:31130284 PMID:31395617 PMID:31589614 PMID:31738409 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:32939031 PMID:33112055 PMID:33123899 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33774617 PMID:33845788 PMID:33940108 PMID:35715958 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20210794 |
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ppm1k |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
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G |
Pyurf |
PIGY upstream open reading frame |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494
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G |
Rab26 |
RAB26, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
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IEP |
protein:increased expression, increased activity:kidney |
RGD |
PMID:16221708 |
RGD:1643017 |
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Serping1 |
serpin family G member 1 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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G |
Slc34a1 |
solute carrier family 34 member 1 |
disease_progression |
IEP |
mRNA, protein:altered expression:renal cortex (rat) |
RGD |
PMID:11004225 |
RGD:7242933 |
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Snca |
synuclein alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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G |
Sparcl1 |
SPARC like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,632,816...5,663,866
Ensembl chr14:5,632,569...5,663,865
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G |
Spp1 |
secreted phosphoprotein 1 |
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IEP ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar RGD |
PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 PMID:20926632 |
RGD:5131995 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
protein:increased expression:kidney, epithelial cell |
RGD |
PMID:16399078 |
RGD:7243978 |
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tigd2 |
tigger transposable element derived 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:88,414,366...88,417,458
Ensembl chr 4:88,414,518...88,417,785
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G |
Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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Umod |
uromodulin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
OMIM CTD ClinVar RGD |
PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:17576681 PMID:18004297 PMID:19465746 PMID:20172860 PMID:20472742 PMID:21060763 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24961278 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30773290 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:33574344 PMID:34519781 PMID:35368791 PMID:12471200 More...
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RGD:737832 |
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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G |
Ace |
angiotensin I converting enzyme |
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IMP IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:20229187 PMID:20798958 |
RGD:2325220, RGD:12879406 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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IDA |
protein:increased serine phosphorylation:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Aqp1 |
aquaporin 1 |
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IEP ISO |
mRNA, protein:increased expression, altered location:bile duct, epithelial cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18988797 PMID:18988797 |
RGD:2307071 |
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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G |
Arl3 |
ADP ribosylation factor like GTPase 3 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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G |
Bicc1 |
BicC family RNA binding protein 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
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G |
C3 |
complement C3 |
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ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:17960140 PMID:17960140 |
RGD:7175542, RGD:7175542 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cd14 |
CD14 molecule |
severity |
ISO |
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RGD |
PMID:20555320 PMID:20555320 |
RGD:7204130, RGD:7204130 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cdc25a |
cell division cycle 25A |
treatment |
IEP IMP ISO |
protein:increased expression:cholangiocyte: |
RGD |
PMID:22155366 PMID:22155366 PMID:22155366 PMID:22155366 |
RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 |
NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
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G |
Cftr |
CF transmembrane conductance regulator |
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IEP ISO |
mRNA, protein:increased expression:bile duct epithelium CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18988797 PMID:18988797 |
RGD:2307071 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Cyp4a1 |
cytochrome P450, family 4, subfamily a, polypeptide 1 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464
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G |
Cyp4a2 |
cytochrome P450, family 4, subfamily a, polypeptide 2 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165
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G |
Cyp4a3 |
cytochrome P450, family 4, subfamily a, polypeptide 3 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463
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G |
Cyp4a8 |
cytochrome P450, family 4, subfamily a, polypeptide 8 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476
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G |
Cys1 |
cystin 1 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease OMIM:263200 |
ClinVar MouseDO RGD |
PMID:25741868 PMID:34521872 PMID:11854326 |
RGD:7175541 |
NCBI chr 6:41,300,836...41,318,071
Ensembl chr 6:41,300,836...41,318,071
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
ClinVar |
PMID:16199547 PMID:23339108 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 More...
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dzip1l |
DAZ interacting zinc finger protein 1-like |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:263200 |
CTD MouseDO |
PMID:28530676 |
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NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9486961 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Eln |
elastin |
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IEP |
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RGD |
PMID:21478483 |
RGD:7207865 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
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ISO |
mRNA,protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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G |
Ift88 |
intraflagellar transport 88 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:263200 |
CTD MouseDO |
PMID:8191288 PMID:8608416 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Mtor |
mechanistic target of rapamycin kinase |
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IDA |
protein:increased serine phosphorylation:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
mRNA:increased expression:kidney (mouse) |
RGD |
PMID:3479800 |
RGD:7207453 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Nek1 |
NIMA-related kinase 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Nek8 |
NIMA-related kinase 8 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
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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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Panx1 |
Pannexin 1 |
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IEP |
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RGD |
PMID:31630543 |
RGD:14995937 |
NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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IEP |
protein:increased expression:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISS ISO |
OMIM:263200 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
MouseDO ClinVar |
PMID:25741868 PMID:26467025 PMID:29100090 |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
susceptibility severity |
ISO ISS IAGP IEP |
DNA:missense mutations, nonsense mutations: :multiple ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I OMIM:263200 DNA:missense mutations:cds: DNA:deletion:exon: CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney DNA:splice site mutation:intron:IVS35-2A>T |
ClinVar MouseDO CTD RGD |
PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:16897190 PMID:17576681 PMID:18414213 PMID:18503009 PMID:18769842 PMID:18988797 PMID:19021639 PMID:19176689 PMID:19524688 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21493627 PMID:21685914 PMID:21790888 PMID:21945273 PMID:22034641 PMID:22415584 PMID:22882926 PMID:22995991 PMID:23041322 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24009235 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25525159 PMID:25589618 PMID:25640679 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741880 PMID:25741895 PMID:25741913 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29068549 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29947050 PMID:29956005 PMID:30017326 PMID:30260789 PMID:30275481 PMID:30343465 PMID:30366773 PMID:30507656 PMID:30566001 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31328266 PMID:31395617 PMID:31395954 PMID:31589614 PMID:31624253 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32304219 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32901917 PMID:32939031 PMID:33059616 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33774617 PMID:33845788 PMID:33940108 PMID:33964006 PMID:34008892 PMID:34032358 PMID:34405919 PMID:34426522 PMID:34487536 PMID:34536170 PMID:34977057 PMID:35314707 PMID:35627109 PMID:35715958 PMID:35778421 PMID:35812281 PMID:36065636 PMID:36307859 PMID:11919560 PMID:11919560 PMID:12874454 PMID:17519956 PMID:14983006 PMID:11919560 More...
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RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 |
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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Pkhd1pck |
polycystic kidney and hepatic disease 1,polycystic kidney disease |
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IAGP |
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RGD |
PMID:11919560 |
RGD:70439 |
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Sclt1 |
sodium channel and clathrin linker 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Slc4a2 |
solute carrier family 4 member 2 |
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IEP ISO |
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18988797 PMID:18988797 |
RGD:2307071 |
NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
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Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18385429 |
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NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Tmem67 |
transmembrane protein 67 |
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IAGP |
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RGD |
PMID:30705305 PMID:11095650 PMID:15052665 |
RGD:14995942, RGD:1300514, RGD:15014788 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk |
transmembrane protein 67; wpk mutant |
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IAGP |
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RGD |
PMID:30705305 PMID:11095650 PMID:15052665 |
RGD:14995942, RGD:1300514, RGD:15014788 |
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Tsc1 |
TSC complex subunit 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) |
RGD |
PMID:21927809 |
RGD:13446406 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tbx18 |
T-box transcription factor 18 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction |
OMIM CTD ClinVar |
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 |
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NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Ace |
angiotensin I converting enzyme |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Bicc1 |
BicC family RNA binding protein 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to |
OMIM ClinVar |
PMID:21922595 PMID:25741868 PMID:28492532 |
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NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
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Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome |
OMIM CTD ClinVar |
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:20301500 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25616960 PMID:25640679 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26729329 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31054281 PMID:31069529 PMID:31319225 PMID:31624253 PMID:32165824 PMID:32335874 PMID:32865313 PMID:33879512 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 PMID:36819107 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
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Akap1 |
A-kinase anchoring protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896
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Aldh3a2 |
aldehyde dehydrogenase 3 family, member A2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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Alkbh5 |
alkB homolog 5, RNA demethylase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Anapc2 |
anaphase promoting complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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Appbp2 |
amyloid beta precursor protein binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,057,774...70,099,835
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Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:18674751 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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Arrdc1 |
arrestin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
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Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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Atpaf2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27123465 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
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Brip1 |
BRCA1 interacting helicase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Bst1 |
bone marrow stromal cell antigen 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180
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C10h17orf67 |
similar to human chromosome 17 open reading frame 67 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,895,343...73,916,133
Ensembl chr10:73,895,343...73,916,133
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:24997988 PMID:25741868 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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C7h12orf50 |
similar to human chromosome 12 open reading frame 50 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320
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C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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Car4 |
carbonic anhydrase 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
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Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Cby1 |
chibby 1, beta catenin antagonist |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:33131181 |
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NCBI chr 7:111,216,835...111,223,305
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19763152 PMID:19777577 PMID:20307669 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22406018 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:25920555 PMID:26003401 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26633542 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29165578 PMID:29620724 PMID:29987673 PMID:30055837 PMID:30091983 PMID:30202406 PMID:30267408 PMID:31130284 PMID:31577543 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:33502066 PMID:34182252 PMID:34194672 PMID:34645488 PMID:34821546 PMID:34906502 PMID:35858853 PMID:38259611 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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G |
Cd38 |
CD38 molecule |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19763152 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20130272 PMID:20301475 PMID:20307669 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21786365 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22406018 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23661368 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24474277 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25326637 PMID:25356976 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27821535 PMID:27848944 PMID:27894351 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28224992 PMID:28418496 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28771248 PMID:28829391 PMID:28844315 PMID:28912962 PMID:28966547 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29261186 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31456290 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31840411 PMID:31877679 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32386258 PMID:32581362 PMID:32600475 PMID:32619255 PMID:32856788 PMID:32864857 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33886416 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34031707 PMID:34096792 PMID:34196655 PMID:34321860 PMID:34795310 PMID:34821546 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35764379 PMID:35836572 PMID:36460718 PMID:36493848 PMID:36729443 PMID:36909829 PMID:36990420 PMID:37008293 PMID:37510321 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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G |
Chct1 |
CHD1 helical C-terminal domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
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G |
Clic3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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G |
Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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G |
Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 PMID:28679688 |
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Coil |
coilin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,789,077...73,810,378
Ensembl chr10:73,789,488...73,810,393
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G |
Cops3 |
COP9 signalosome subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 PMID:24178751 PMID:25741868 PMID:25877302 PMID:26092869 PMID:28492532 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 |
Cpsf7 |
cleavage and polyadenylation specific factor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905
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G |
Cuedc1 |
CUE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,892,637...72,986,546
Ensembl chr10:72,892,637...72,986,542
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G |
Cyb561a3 |
cytochrome b561 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
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G |
Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
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G |
Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
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G |
Dhx40 |
DEAH-box helicase 40 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,584,546...71,621,479
Ensembl chr10:71,583,716...71,621,445
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G |
Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
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G |
Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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G |
Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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G |
Drc3 |
dynein regulatory complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
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G |
Drg2 |
developmentally regulated GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
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G |
Dynll2 |
dynein light chain LC8-type 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,767,035...72,785,824
Ensembl chr10:72,767,035...72,785,805
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G |
Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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G |
Egfl6 |
EGF-like-domain, multiple 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,884,087...27,942,044
Ensembl chr X:27,884,125...27,942,044
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Epn2 |
epsin 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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G |
Epx |
eosinophil peroxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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G |
Exoc8 |
exocyst complex component 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:22700954 |
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NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
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G |
Fam149b1 |
family with sequence similarity 149, member B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:30905400 |
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NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
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G |
Fam83g |
family with sequence similarity 83, member G |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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G |
Fbxl5 |
F-box and leucine-rich repeat protein 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,305,109...67,347,383
Ensembl chr14:67,267,801...67,347,383
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G |
Fbxw10 |
F-box and WD repeat domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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G |
Fgfbp1 |
fibroblast growth factor binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,103,686...67,107,492
Ensembl chr14:67,104,545...67,107,496
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G |
Flcn |
folliculin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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G |
Flii |
FLII, actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:17558409 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 |
Fut7 |
fucosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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Gdpd1 |
glycerophosphodiester phosphodiesterase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,840,497...71,883,936
Ensembl chr10:71,840,497...71,883,850
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Gid4 |
GID complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
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Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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Grap |
GRB2-related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Gtf2h3 |
general transcription factor IIH subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
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Heatr6 |
HEAT repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105
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G |
Hsf5 |
heat shock transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406
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Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:24140113 PMID:25741868 PMID:26092869 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19597493 PMID:19668215 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:23847139 PMID:24257694 PMID:25132448 PMID:25133751 PMID:25516202 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25963545 PMID:25999675 PMID:26075876 PMID:26092869 PMID:26748598 PMID:26820064 PMID:27081510 PMID:27353947 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29146704 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:31456290 PMID:31506345 PMID:31589614 PMID:32304219 PMID:32483926 PMID:33270637 PMID:33749171 PMID:34188062 PMID:36460718 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Irx3 |
iroquois homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317
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Irx5 |
iroquois homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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G |
Irx6 |
iroquois homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403
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G |
Katnip |
katanin interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:26714646 PMID:28492532 |
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NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21633164 PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Kitlg |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Lcn1 |
lipocalin 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lcn10 |
lipocalin 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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G |
Lcn12 |
lipocalin 12 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
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G |
Lcn6 |
lipocalin 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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G |
Lcn8 |
lipocalin 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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G |
Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Llgl1 |
LLGL scribble cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
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G |
Lpo |
lactoperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,606,950...72,626,220
Ensembl chr10:72,606,944...72,626,535
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G |
Lrrc26 |
leucine rich repeat containing 26 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
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G |
Lrrc34 |
leucine rich repeat containing 34 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
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G |
Mamdc4 |
MAM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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G |
Mapk7 |
mitogen-activated protein kinase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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G |
Med9 |
mediator complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
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G |
Mfap4 |
microfibril associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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G |
Micall2 |
MICAL-like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
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NCBI chr12:14,899,188...14,927,949
Ensembl chr12:14,899,157...14,927,946
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G |
Mief2 |
mitochondrial elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
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G |
Mir126a |
microRNA 126a |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G |
Mir21 |
microRNA 21 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:22406018 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35360848 PMID:35587316 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mpo |
myeloperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mprip |
myosin phosphatase Rho interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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G |
Mrps23 |
mitochondrial ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264
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G |
Msi2 |
musashi RNA-binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,143,760...73,510,566
Ensembl chr10:73,147,380...73,510,157
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G |
Mtmr4 |
myotubularin related protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
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Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
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Nelfb |
negative elongation factor complex member B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
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Nog |
noggin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Noxa1 |
NADPH oxidase activator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
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Npdc1 |
neural proliferation, differentiation and control, 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nrarp |
Notch-regulated ankyrin repeat protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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Nt5m |
5',3'-nucleotidase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25674159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28289185 PMID:28371265 PMID:28492532 PMID:28831199 PMID:29843741 PMID:30401917 PMID:33825116 PMID:34440443 PMID:35112477 PMID:35728977 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Olr1523 |
olfactory receptor 1523 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,708,272...72,709,213
Ensembl chr10:72,707,063...72,715,311
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Or4d2b |
olfactory receptor family 4 subfamily D member 2B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,693,014...72,693,949
Ensembl chr10:72,689,839...72,696,182
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Paep |
progestagen associated endometrial protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
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G |
Paxx |
PAXX, non-homologous end joining factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
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Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20232449 PMID:23559409 PMID:28492532 |
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NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
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G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25558065 PMID:27894351 |
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NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
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G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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G |
Phpt1 |
phosphohistidine phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,392,926...8,394,325
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pld6 |
phospholipase D family, member 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Pnpla7 |
patatin-like phospholipase domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
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G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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G |
Ppm1e |
protein phosphatase, Mg2+/Mn2+ dependent, 1E |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282
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G |
Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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G |
Prr11 |
proline rich 11 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012
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G |
Ptgds |
prostaglandin D2 synthase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Ptrh2 |
peptidyl-tRNA hydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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Rab9a |
RAB9A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,955,552...28,009,870
Ensembl chr X:27,952,204...28,001,622
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Rabl6 |
RAB, member RAS oncogene family-like 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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G |
Rai1 |
retinoic acid induced 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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G |
Rasd1 |
ras related dexamethasone induced 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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G |
Rcor1 |
REST corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:26489029 |
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NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 PMID:20683928 PMID:21786365 PMID:23954617 PMID:25741868 PMID:27821535 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Rnf112 |
ring finger protein 112 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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G |
Rnf208 |
ring finger protein 208 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
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G |
Rnf224 |
ring finger protein 224 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945
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G |
Rnf43 |
ring finger protein 43 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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G |
Rnft1 |
ring finger protein, transmembrane 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,310,052...71,322,507
Ensembl chr10:71,310,104...71,323,778
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21866095 PMID:22331178 PMID:22406018 PMID:22693042 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28378410 PMID:28492532 PMID:28771248 PMID:29343940 PMID:29620724 PMID:29991045 PMID:31328266 PMID:31390572 PMID:31964843 PMID:31980526 PMID:33323469 PMID:34308837 PMID:35233738 PMID:35858853 PMID:36061204 More...
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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 |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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G |
Sapcd2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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G |
Scpep1 |
serine carboxypeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,703,275...73,732,892
Ensembl chr10:73,703,278...73,732,850
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Sdhaf2 |
succinate dehydrogenase complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
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Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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Septin4 |
septin 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
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Shmt1 |
serine hydroxymethyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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Ska2 |
spindle and kinetochore associated complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458
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Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Slc47a1 |
solute carrier family 47 member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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Slc5a10 |
solute carrier family 5 member 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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Smcr8 |
SMCR8-C9orf72 complex subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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Smg8 |
SMG8 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,886,742...71,895,776
Ensembl chr10:71,886,744...71,895,760
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Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Srebf1 |
sterol regulatory element binding transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srsf1 |
serine and arginine rich splicing factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Ssna1 |
SS nuclear autoantigen 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
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Stpg3 |
sperm-tail PG-rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
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Supt4h1 |
SPT4 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,539,323...72,545,582
Ensembl chr10:72,539,382...72,545,831
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Sycp3l1 |
synaptonemal complex protein 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr 1:186,108,544...186,111,598
Ensembl chr 1:186,108,920...186,109,630
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Tapt1 |
transmembrane anterior posterior transformation 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:66,873,467...66,919,737
Ensembl chr14:66,873,459...66,919,741
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Tbx2 |
T-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tceanc |
transcription elongation factor A N-terminal and central domain containing |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,952,539...27,961,038
Ensembl chr X:27,952,457...27,960,940
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Tctn1 |
tectonic family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25741868 PMID:25920555 PMID:26477546 PMID:26489806 PMID:27894351 PMID:28492532 PMID:31302911 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:24033266 PMID:25118024 PMID:25640679 PMID:25741868 PMID:26092869 PMID:26729329 PMID:27894351 PMID:28492532 PMID:28771248 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tex14 |
testis expressed 14, intercellular bridge forming factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr7 |
toll-like receptor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8 |
toll-like receptor 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 1:207,219,113...207,226,159
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G |
Tmem141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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Tmem203 |
transmembrane protein 203 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
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Tmem210 |
transmembrane protein 210 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20036350 PMID:20301500 PMID:20307669 PMID:20512146 PMID:22282472 PMID:22406018 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 More...
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NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31019026 PMID:31710777 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:19763152 PMID:20232449 PMID:20307669 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22406018 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26075130 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26477546 PMID:26546361 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29096039 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29568536 PMID:29891882 PMID:29947050 PMID:29974258 PMID:30029678 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31411728 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32058062 PMID:32404165 PMID:33532864 PMID:34006472 PMID:34032358 PMID:34645491 PMID:34675960 PMID:34964473 PMID:35229910 PMID:36221156 PMID:36617405 PMID:36703223 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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Tmsb4x |
thymosin beta 4, X-linked |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,144,666...27,146,667
Ensembl chr X:27,128,610...27,146,667
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Tmtc3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
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Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:32453716 PMID:32747439 |
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NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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Tom1l2 |
target of myb1 like 2 membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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Tor4a |
torsin family 4, member A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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G |
Tprn |
taperin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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G |
Traf2 |
Tnf receptor-associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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G |
Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 PMID:27081566 PMID:28492532 More...
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NCBI chr X:28,004,051...28,015,336
Ensembl chr X:27,994,054...28,015,346
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G |
Trim25 |
tripartite motif-containing 25 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,812,818...73,831,271
Ensembl chr10:73,812,818...73,831,257
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G |
Trim37 |
tripartite motif-containing 37 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558
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G |
Tspoap1 |
TSPO associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Tubb4b |
tubulin, beta 4B class IVb |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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G |
Tubd1 |
tubulin, delta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266
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G |
Tvp23b |
trans-golgi network vesicle protein 23 homolog B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29767709 PMID:30245029 PMID:31429209 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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G |
Usp32 |
ubiquitin specific peptidase 32 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,855,895...70,029,075
Ensembl chr10:69,855,885...70,029,137
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G |
Vezf1 |
vascular endothelial zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,859,669...72,876,111
Ensembl chr10:72,859,877...72,876,111
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G |
Vmp1 |
vacuole membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,058...71,505,045
Ensembl chr10:71,405,452...71,505,007
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Ypel2 |
yippee-like 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,746,308...71,803,843
Ensembl chr10:71,746,311...71,803,911
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G |
Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 CTD Direct Evidence: marker/mechanism DNA:misense mutation:exon:c.35G>T(p.R12L)(human) |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20036350 More...
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RGD:11561919 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) |
RGD |
PMID:17409309 |
RGD:7246903 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 |
ClinVar |
PMID:25741868 |
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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 |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 CTD Direct Evidence: marker/mechanism associated with Kidney Diseases, Cystic;DNA:mutation |
OMIM ClinVar CTD RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31822006 PMID:32483926 PMID:33193692 PMID:34090716 PMID:17409309 More...
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RGD:7246903 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
DNA:mutations:exon, intron:multiple |
RGD |
PMID:15776426 |
RGD:11068164 |
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
PMID:19936001 PMID:25741868 PMID:28492532 |
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 7 OMIM:611560 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutation:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:20301500 PMID:21866095 PMID:23351400 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 PMID:17960139 More...
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RGD:11537350 |
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Cfh |
complement factor H |
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ISO |
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney |
ClinVar |
PMID:25741868 |
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NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9703339 PMID:10484768 PMID:10672455 PMID:10720943 PMID:10758154 PMID:10868855 PMID:11085914 PMID:11317673 PMID:11562418 PMID:11845237 PMID:11845238 PMID:11918730 PMID:12148114 PMID:12161522 PMID:12460054 PMID:12478351 PMID:12675839 PMID:14583183 PMID:15001636 PMID:15068978 PMID:15085338 PMID:15168014 PMID:15181075 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16133182 PMID:16199547 PMID:16249435 PMID:16371430 PMID:16801329 PMID:16971658 PMID:17116179 PMID:17267738 PMID:17337496 PMID:17440011 PMID:17878605 PMID:17924661 PMID:18065799 PMID:18249217 PMID:18528323 PMID:18644064 PMID:19228875 PMID:19346182 PMID:19389850 PMID:19639018 PMID:20155289 PMID:20378641 PMID:20543213 PMID:20603712 PMID:20633866 PMID:21163139 PMID:21380624 PMID:21617276 PMID:21775974 PMID:22034641 PMID:22051731 PMID:22060211 PMID:22114815 PMID:22432796 PMID:22641569 PMID:22706971 PMID:23520208 PMID:23539225 PMID:23926411 PMID:23979948 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24254850 PMID:24382792 PMID:24387224 PMID:24429398 PMID:24476040 PMID:24698406 PMID:24897035 PMID:24961278 PMID:25041077 PMID:25265965 PMID:25367728 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25705165 PMID:25741167 PMID:25741868 PMID:25754277 PMID:26024028 PMID:26059258 PMID:26226118 PMID:26319241 PMID:26340261 PMID:26417411 PMID:26467025 PMID:26489027 PMID:26489029 PMID:26669242 PMID:26899772 PMID:27229139 PMID:27234567 PMID:27297286 PMID:27615128 PMID:27657687 PMID:27838256 PMID:27913849 PMID:28215227 PMID:28251383 PMID:28420700 PMID:28492532 PMID:28502589 PMID:28593362 PMID:28912863 PMID:29100090 PMID:29207974 PMID:29406598 PMID:29491316 PMID:29764441 PMID:29927023 PMID:30143558 PMID:30191644 PMID:30259503 PMID:30481753 PMID:30548481 PMID:30655312 PMID:30663027 PMID:30666461 PMID:30773290 PMID:30791938 PMID:31131422 PMID:31198537 PMID:31365591 PMID:31498910 PMID:31604004 PMID:31825128 PMID:32164334 PMID:32266039 PMID:32708349 PMID:33046911 PMID:33259036 PMID:33305128 PMID:33434175 PMID:33532864 PMID:33574344 PMID:33663443 PMID:33851123 PMID:35643372 PMID:36090499 PMID:36522156 PMID:36549658 More...
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G |
Park7 |
Parkinsonism associated deglycase |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15790532 PMID:16997464 PMID:19429112 PMID:22173095 PMID:22428580 PMID:22960331 PMID:22995991 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:28492532 More...
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NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:27657687 |
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NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28498465 More...
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NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29146704 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
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 |
Hoxb6 |
homeo box B6 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) DNA:deletion:intron:IVS15-7_35del (human) DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 PMID:23351400 PMID:17935508 PMID:19776033 PMID:21045211 PMID:17397051 More...
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RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 |
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Snord118 |
small nucleolar RNA, C/D box 118 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27571260 |
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NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 |
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27571260 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:34964473 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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Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 12 |
OMIM ClinVar |
PMID:24128419 PMID:25741868 PMID:28492532 |
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NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 13 |
OMIM ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 CTD Direct Evidence: marker/mechanism DNA:missense,frameshift,nonsense mutations:cds,splice junction: |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
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RGD:11067331 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem67 |
transmembrane protein 67 |
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ISO IAGP |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 CTD Direct Evidence: marker/mechanism DNA:deletion DNA:deletions, missense mutation, splice-site mutations: :multiple DNA:missense mutation:exon:p.P394L (rat) DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) DNA:missense mutations, splice-site mutation:exon:multiple |
OMIM ClinVar CTD RGD |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22121117 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:31411728 PMID:32000717 PMID:34032358 PMID:34675960 PMID:26035863 PMID:19211713 PMID:16415887 PMID:16415887 PMID:26191240 PMID:23351400 PMID:17377820 PMID:17397051 More...
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RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk |
transmembrane protein 67; wpk mutant |
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IAGP |
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RGD |
PMID:16415887 |
RGD:11535082 |
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:frameshift mutation:exon:c.5489del (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27894351 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31680349 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35005812 PMID:35764379 PMID:35836572 PMID:36460718 PMID:37008293 PMID:17564974 PMID:17705300 More...
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RGD:11063677, RGD:11070805 |
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25741868 PMID:26003401 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29987673 PMID:30202406 PMID:31130284 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:34645488 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 |
ClinVar |
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 |
ClinVar |
PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 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:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 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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Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
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RGD |
PMID:30600684 |
RGD:14700919 |
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs17563(human) |
RGD |
PMID:24131739 |
RGD:13442498 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Multicystic dysplastic kidney |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30143558 |
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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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Pdgfa |
platelet derived growth factor subunit A |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:9200407 |
RGD:2298582 |
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Scaf4 |
SR-related CTD-associated factor 4 |
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ISO |
ClinVar Annotator: match by term: Multicystic dysplastic kidney |
ClinVar |
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NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
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Acad11 |
acyl-CoA dehydrogenase family, member 11 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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Ackr4 |
atypical chemokine receptor 4 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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G |
Adamts9 |
ADAM metallopeptidase with thrombospondin type 1 motif, 9 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 PMID:30609407 |
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NCBI chr 4:125,290,633...125,462,988
Ensembl chr 4:125,291,490...125,462,929
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Ahi1 |
Abelson helper integration site 1 |
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ISS ISO |
ClinVar Annotator: match by term: Nephronophthisis |
MouseDO ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Ajap1 |
adherens junctions associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
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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 |
ClinVar |
PMID:12872123 PMID:28492532 |
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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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Anp32b |
acidic nuclear phosphoprotein 32 family member B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:18371931 PMID:23559409 PMID:28492532 |
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NCBI chr 8:104,006,226...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 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep164 |
centrosomal protein 164 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28844315 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32581362 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cep83 |
centrosomal protein 83 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:23530209 PMID:24882706 PMID:28492532 |
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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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Cntrl |
centriolin |
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ISS |
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MouseDO |
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NCBI chr 3:18,428,147...18,500,362
Ensembl chr 3:18,428,103...18,500,380
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Col15a1 |
collagen type XV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591
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Coro2a |
coronin 2A |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
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Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:22425360 PMID:24178751 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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Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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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Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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Erp44 |
endoplasmic reticulum protein 44 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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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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Evc |
EvC ciliary complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Fam186b |
family with sequence similarity 186, member B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 7:130,408,830...130,424,261
Ensembl chr 7:130,408,830...130,424,261
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Foxe1 |
forkhead box E1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: 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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Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
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Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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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Glis2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
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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Golgb1 |
golgin B1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15723066 PMID:20881296 PMID:28492532 |
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NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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Hemgn |
hemogen |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669
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Ift140 |
intraflagellar transport 140 |
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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:28844315 PMID:29068549 PMID:29688594 PMID:29706353 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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Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Incenp |
inner centromere protein |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265
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Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Invs |
inversin |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:2702088 PMID:9536098 PMID:11935322 PMID:12872123 PMID:15852005 PMID:16199547 PMID:16522655 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:22773737 PMID:23559409 PMID:23713026 PMID:24033266 PMID:24677454 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26489027 PMID:26862157 PMID:28492532 PMID:30029678 PMID:31131822 PMID:31706999 PMID:32173348 PMID:32335886 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34295353 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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Iqcb1 |
IQ motif containing B1 |
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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:16199547 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:24033266 PMID:24066033 PMID:24625443 PMID:24674142 PMID:25640679 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:26766544 PMID:27506978 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:29186038 PMID:29219953 PMID:30718709 PMID:32531858 PMID:33535056 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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Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30143558 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Kcnab2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 5:162,899,511...162,988,057
Ensembl chr 5:162,901,896...162,988,243
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Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:21552264 PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Mall |
mal, T-cell differentiation protein-like |
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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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Mkks |
MKKS centrosomal shuttling protein |
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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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Nans |
N-acetylneuraminate synthase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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Ncbp1 |
nuclear cap binding protein subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
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Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Nphp1 |
nephrocystin 1 |
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ISO |
DNA:deletions, nonsense mutations:cds:multiple ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:19755384 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23559409 PMID:23661369 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28002029 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31822006 PMID:32173348 PMID:32483926 PMID:33193692 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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Nphp3 |
nephrocystin 3 |
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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:25356970 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27491411 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28844315 PMID:28921755 PMID:28973083 PMID:28991257 PMID:29801666 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32502767 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34013113 PMID:34031707 PMID:34212438 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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Nphp4 |
nephrocystin 4 |
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ISO |
DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple ClinVar Annotator: match by term: Nephronophthisis 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:24154662 PMID:25445212 PMID:25472526 PMID:25558065 PMID:25741868 PMID:25741916 PMID:26346198 PMID:26489029 PMID:26920127 PMID:27004616 PMID:27491411 PMID:27854218 PMID:28492532 PMID:28700940 PMID:29127258 PMID:30143558 PMID:31810733 PMID:32865313 PMID:34295353 PMID:34850017 PMID:36090483 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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Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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Pias1 |
protein inhibitor of activated STAT, 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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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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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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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:28939701 PMID:29671881 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314
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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:25741868 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31390572 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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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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 |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISS |
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MouseDO |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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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 |
associated with liver cirrhosis;DNA:missense mutations:CDS:multiple (human) ClinVar Annotator: match by term: Nephronophthisis |
ClinVar RGD |
PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:22700954 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28289063 PMID:28492532 PMID:28497568 PMID:29568536 PMID:29956005 More...
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RGD:329951006 |
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 |
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 5:60,800,568...60,824,858
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 |
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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:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:18371931 PMID:23559409 PMID:28492532 |
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NCBI chr 8:104,665,241...104,680,915
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 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,431,673...60,475,726
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 Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
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:24178751 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:25741868 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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G |
Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:12872123 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25525159 PMID:25741868 PMID:28492532 PMID:33532864 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 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24625443 PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:29068479 PMID:29219953 PMID:30718709 PMID:33535056 More...
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NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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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
Ensembl chr 3:115,019,473...115,019,643 Ensembl chr 3:115,019,473...115,019,643
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G |
Nphp1 |
nephrocystin 1 |
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ISO ISS |
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis OMIM:256100 CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple DNA:missense mutations:cds:p.R586X (human) DNA:deletion: : |
OMIM ClinVar MouseDO CTD 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:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31822006 PMID:32483926 PMID:33193692 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 Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 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:28921755 PMID:28973083 PMID:30002499 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 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: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:9536098 PMID:12205563 PMID:12244321 PMID:15776426 PMID:17576681 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23217326 PMID:23559409 PMID:25558065 PMID:25741868 PMID:26346198 PMID:27004616 PMID:28492532 PMID:28700940 PMID:29127258 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 |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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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:28939701 PMID:29671881 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr 1:40,859,829...40,894,376
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 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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: juvenile nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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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Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 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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Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: juvenile 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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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:17160906 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:22700954 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28289063 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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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis |
ClinVar |
PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
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 CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.C615R (c.1843T>C), p.Q747E (c.2239C>G) (human) DNA:missense mutations: :multiple |
OMIM ClinVar CTD RGD |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:29974258 PMID:30455918 PMID:30476936 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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
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:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:31216405 PMID:32165824 PMID:32483926 PMID:33002628 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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Adcy7 |
adenylate cyclase 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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Brd7 |
bromodomain containing 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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G |
Cnep1r1 |
CTD nuclear envelope phosphatase 1 regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667
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G |
Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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G |
Heatr3 |
HEAT repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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G |
Nkd1 |
NKD inhibitor of WNT signaling pathway 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Sall1 |
spalt-like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Snx20 |
sorting nexin 20 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107
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G |
Tent4b |
terminal nucleotidyltransferase 4B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537
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G |
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 | ClinVar Annotator: match by term: ZNF423-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 PMID:28106320 PMID:28492532 PMID:30868567 PMID:32723786 PMID:32925911 More...
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NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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Apoa1 |
apolipoprotein A1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa4 |
apolipoprotein A4 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoa5 |
apolipoprotein A5 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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G |
Apoc3 |
apolipoprotein C3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Bace1 |
beta-secretase 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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G |
Cep164 |
centrosomal protein 164 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17954613 PMID:22863007 PMID:24033266 PMID:24882706 PMID:25340510 PMID:25741868 PMID:27708425 PMID:28125082 PMID:28492532 PMID:29974258 PMID:31785789 PMID:32055034 PMID:32367404 PMID:32483926 PMID:34013113 PMID:34132027 PMID:34499853 PMID:35112343 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:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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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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G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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Il10ra |
interleukin 10 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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G |
Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Rnf214 |
ring finger protein 214 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
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G |
Sidt2 |
SID1 transmembrane family, member 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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G |
Sik3 |
SIK family kinase 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Tagln |
transgelin |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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G |
Tmprss13 |
transmembrane serine protease 13 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 15 |
ClinVar |
PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 PMID:34499853 More...
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NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephronophthisis 16 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25599650 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephronophthisis 18 |
OMIM CTD 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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25557784 PMID:25741868 PMID:26467025 PMID:27319779 PMID:27469900 PMID:28492532 PMID:31589614 PMID:31821705 More...
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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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G |
Invs |
inversin |
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ISO ISS |
ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile OMIM:602088 CTD Direct Evidence: marker/mechanism DNA:missense mutations, non-sense mutations, frameshift mutations: |
OMIM ClinVar MouseDO CTD RGD |
PMID:2702088 PMID:9536098 PMID:12872123 PMID:15852005 PMID:16199547 PMID:16522655 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:22773737 PMID:23559409 PMID:23713026 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26489027 PMID:28492532 PMID:30029678 PMID:31131822 PMID:31706999 PMID:32173348 PMID:32335886 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34295353 PMID:34298581 PMID:12872123 More...
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RGD:155791687 |
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 Annotator: match by term: Nephronophthisis 2, infantile |
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...50,935,880
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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephronophthisis 20 |
OMIM CTD ClinVar |
PMID:25741868 PMID:28089251 PMID:28492532 PMID:32055034 |
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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 ISS |
ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM:604387 CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27491411 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28844315 PMID:28921755 PMID:28973083 PMID:29801666 PMID:30002499 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32502767 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34212438 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 ISS |
ClinVar Annotator: match by term: Nephronophthisis 4 OMIM:606966 CTD Direct Evidence: marker/mechanism DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:nonsense mutation: :3272del (human) DNA:nonsense mutations, duplications:exon:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:1248184 PMID:9536098 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16199547 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:17954299 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:26489029 PMID:26920127 PMID:27004616 PMID:27491411 PMID:27854218 PMID:28492532 PMID:28700940 PMID:29127258 PMID:30143558 PMID:31810733 PMID:32865313 PMID:33532864 PMID:34295353 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 ISS |
ClinVar Annotator: match by term: Nephronophthisis 7 OMIM:611498 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 PMID:34917135 More...
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephronophthisis 9 compared to control Lewis |
OMIM CTD ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:22106379 PMID:23026745 PMID:23418306 PMID:25741868 PMID:26697755 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20179356 PMID:21068128 PMID:25741868 PMID:28492532 PMID:29758562 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 PMID:25741868 PMID:28492532 |
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NCBI chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
protein:increased expression:kidney (mouse) |
RGD |
PMID:20606421 |
RGD:7244164 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt |
angiotensinogen |
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IDA |
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RGD |
PMID:20798958 |
RGD:12879406 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease, adult type |
ClinVar |
PMID:31395617 |
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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IAGP IMP |
DNA:mutation:cds:p.R823W(rat) |
RGD |
PMID:16207829 PMID:7933831 PMID:21119215 |
RGD:11534987, RGD:1300446, RGD:7207426 |
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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Anks6PKD |
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease |
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IMP IAGP |
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RGD |
PMID:21119215 PMID:7933831 |
RGD:7207426, RGD:1300446 |
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Ano5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Kidney, Polycystic |
ClinVar |
PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23606453 PMID:23607914 PMID:23757202 PMID:24022920 PMID:24232312 PMID:24843231 PMID:25741868 PMID:25891276 PMID:26467025 PMID:26886200 PMID:27708273 PMID:27911336 PMID:28187523 PMID:28492532 PMID:30919934 More...
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NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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Apoa1 |
apolipoprotein A1 |
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ISO |
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RGD |
PMID:19637234 |
RGD:7241572 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Atf1 |
activating transcription factor 1 |
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IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:19924104 |
RGD:2316104 |
NCBI chr 7:131,361,962...131,404,677
Ensembl chr 7:131,362,450...131,404,670
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Becn1 |
beclin 1 |
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IEP ISO |
protein:increased expression:renal cortex |
RGD |
PMID:21270095 PMID:21270095 |
RGD:6483074, RGD:6483074 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bglap |
bone gamma-carboxyglutamate protein |
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IEP |
protein:increased expression:serum |
RGD |
PMID:12376805 |
RGD:7207414 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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C9 |
complement C9 |
treatment |
IEP |
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RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21245082 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31734136 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cfb |
complement factor B |
treatment |
IEP |
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RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:31922066 |
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Ctsb |
cathepsin B |
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IEP |
protein:increased expression:kidney proximal tubule |
RGD |
PMID:8840269 |
RGD:5686402 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsh |
cathepsin H |
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IEP |
protein:increased expression:kidney proximal tubule |
RGD |
PMID:8840269 |
RGD:5686402 |
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Deup1 |
deuterosome assembly protein 1 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
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NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199
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Dhx34 |
DExH-box helicase 34 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:31256877 |
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NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113
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Dll4 |
delta like canonical Notch ligand 4 |
treatment |
IEP |
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RGD |
PMID:32685025 |
RGD:155791442 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
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Epas1 |
endothelial PAS domain protein 1 |
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IEP |
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RGD |
PMID:17322369 |
RGD:10395372 |
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Ganab |
glucosidase II alpha subunit |
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ISO |
DNA:mutations: : |
RGD |
PMID:27259053 |
RGD:11352639 |
NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695
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Gnas |
GNAS complex locus |
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IEP |
protein:increased expression:cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gpbar1 |
G protein-coupled bile acid receptor 1 |
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IEP |
mRNA,protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Hdac6 |
histone deacetylase 6 |
treatment |
IMP |
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RGD |
PMID:24434010 |
RGD:9681551 |
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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Hif1a |
hypoxia inducible factor 1 subunit alpha |
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IEP |
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RGD |
PMID:17322369 |
RGD:10395372 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Invs |
inversin |
severity |
ISO |
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RGD |
PMID:16999740 |
RGD:155794378 |
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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Kif3a |
kinesin family member 3a |
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ISS |
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MouseDO |
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NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
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Lcn2 |
lipocalin 2 |
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ISO |
mRNA:increased expression:kidney, epithelial cell |
RGD |
PMID:22258321 |
RGD:126790531 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease, adult type |
ClinVar |
PMID:25711638 PMID:25741868 PMID:25920554 PMID:28492532 PMID:30283887 |
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Mmp12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:18606867 |
RGD:7241222 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mtor |
mechanistic target of rapamycin kinase |
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IEP |
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RGD |
PMID:22160773 |
RGD:7245545 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc |
MYC proto-oncogene, bHLH transcription factor |
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IEP ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:21119215 PMID:9422539 |
RGD:7207426, RGD:7207451 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nos3 |
nitric oxide synthase 3 |
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IEP |
protein:increased expression:kidney: |
RGD |
PMID:12675853 |
RGD:11534000 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:18371931 PMID:20007846 PMID:23559409 PMID:25741868 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 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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Nppb |
natriuretic peptide B |
treatment |
IDA |
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RGD |
PMID:28416225 |
RGD:14701038 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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IAGP ISO |
ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1740684 PMID:7581371 PMID:8004675 PMID:8554072 PMID:8792818 PMID:8845849 PMID:8911610 PMID:9044320 PMID:9192675 PMID:9199561 PMID:9285784 PMID:9345095 PMID:9452060 PMID:9521593 PMID:9668165 PMID:10200984 PMID:10364515 PMID:10577909 PMID:10612835 PMID:10655152 PMID:10729710 PMID:10854095 PMID:10862097 PMID:10923038 PMID:10987650 PMID:11012875 PMID:11058904 PMID:11115377 PMID:11140688 PMID:11216660 PMID:11316854 PMID:11558899 PMID:11840199 PMID:11857740 PMID:11967008 PMID:12007219 PMID:12070253 PMID:12220456 PMID:12482949 PMID:12633844 PMID:12842373 PMID:15018634 PMID:15772804 PMID:15775720 PMID:15780078 PMID:16049073 PMID:16430766 PMID:17574468 PMID:17582161 PMID:17932118 PMID:18077784 PMID:18257781 PMID:18350644 PMID:18640754 PMID:18791038 PMID:18837007 PMID:19158373 PMID:19165178 PMID:19515475 PMID:19686598 PMID:19759016 PMID:20301424 PMID:20558538 PMID:20837139 PMID:20950398 PMID:20981092 PMID:21115670 PMID:21314639 PMID:21551026 PMID:21694639 PMID:21706482 PMID:21744088 PMID:22008521 PMID:22034641 PMID:22090377 PMID:22185115 PMID:22333914 PMID:22383692 PMID:22406737 PMID:22508176 PMID:22608885 PMID:22995991 PMID:23064367 PMID:23266634 PMID:23300259 PMID:23431072 PMID:23496908 PMID:23624871 PMID:23760289 PMID:23985799 PMID:24033266 PMID:24374109 PMID:24575920 PMID:24582653 PMID:24611717 PMID:24641620 PMID:24694054 PMID:24907393 PMID:25029430 PMID:25263802 PMID:25333066 PMID:25475747 PMID:25525159 PMID:25531466 PMID:25574838 PMID:25646624 PMID:25741868 PMID:25741892 PMID:25741893 PMID:25741900 PMID:25741910 PMID:25757501 PMID:25877301 PMID:25920554 PMID:26139440 PMID:26150605 PMID:26200945 PMID:26274329 PMID:26453610 PMID:26467025 PMID:26489027 PMID:26632257 PMID:26661679 PMID:26718059 PMID:26795593 PMID:26823553 PMID:26938784 PMID:26940125 PMID:26950445 PMID:27165007 PMID:27401137 PMID:27499327 PMID:27567292 PMID:27577987 PMID:27753196 PMID:27782177 PMID:27835667 PMID:27843768 PMID:27884173 PMID:27894351 PMID:28378423 PMID:28578020 PMID:28887310 PMID:29038287 PMID:29270497 PMID:29326913 PMID:29338003 PMID:29529603 PMID:29590654 PMID:29606500 PMID:29633482 PMID:29687770 PMID:29801666 PMID:29860066 PMID:30042192 PMID:30093605 PMID:30293987 PMID:30333007 PMID:30526451 PMID:30586318 PMID:30647506 PMID:30816285 PMID:30820006 PMID:30847201 PMID:30927425 PMID:30989420 PMID:31027891 PMID:31056860 PMID:31079206 PMID:31157564 PMID:31160911 PMID:31317121 PMID:31514750 PMID:31730820 PMID:31738409 PMID:31740684 PMID:31807928 PMID:31844813 PMID:32166738 PMID:32176464 PMID:32203225 PMID:32358097 PMID:32381729 PMID:32398770 PMID:32457805 PMID:32512653 PMID:32816041 PMID:32939031 PMID:33111320 PMID:33168999 PMID:33226606 PMID:33437033 PMID:33454723 PMID:33532864 PMID:33555573 PMID:33569422 PMID:33602752 PMID:33639313 PMID:33964006 PMID:34008892 PMID:34486251 PMID:34890546 PMID:34906502 PMID:35368817 PMID:35778421 PMID:36413997 PMID:36706243 PMID:36755831 PMID:36833371 PMID:37372416 PMID:37419908 PMID:37543885 PMID:38177409 PMID:11913782 More...
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RGD:633540 |
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type |
ClinVar RGD |
PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 PMID:9949210 PMID:10405208 PMID:10411676 PMID:10417277 PMID:10497221 PMID:10541293 PMID:10655555 PMID:10760080 PMID:10835625 PMID:11007674 PMID:11967008 PMID:11968093 PMID:12707387 PMID:12842373 PMID:14993477 PMID:15192819 PMID:15772804 PMID:15775720 PMID:16199547 PMID:16223735 PMID:16430766 PMID:16540757 PMID:17100995 PMID:17303584 PMID:17574468 PMID:17576681 PMID:17582161 PMID:17699277 PMID:18178578 PMID:18257781 PMID:18664456 PMID:18837007 PMID:19158373 PMID:19491093 PMID:19556541 PMID:19936001 PMID:20168298 PMID:20408813 PMID:20439752 PMID:20881056 PMID:21115670 PMID:21551026 PMID:22008521 PMID:22114106 PMID:22383692 PMID:22508176 PMID:22797899 PMID:22863349 PMID:22995991 PMID:23300259 PMID:23376035 PMID:24113780 PMID:24374109 PMID:24611717 PMID:24658975 PMID:25333066 PMID:25491204 PMID:25574838 PMID:25741868 PMID:26150605 PMID:26453610 PMID:26467025 PMID:26692149 PMID:26920127 PMID:26950445 PMID:27071085 PMID:27165007 PMID:27366664 PMID:27401137 PMID:27499327 PMID:27782177 PMID:27884173 PMID:27894351 PMID:28356211 PMID:28492532 PMID:29338003 PMID:29378535 PMID:29529603 PMID:29633482 PMID:30333007 PMID:30369598 PMID:30586318 PMID:30639418 PMID:30820006 PMID:31056860 PMID:31317121 PMID:31488014 PMID:31514750 PMID:31589614 PMID:31740684 PMID:32332171 PMID:32816041 PMID:32970388 PMID:33095447 PMID:33168999 PMID:33437033 PMID:33454723 PMID:33532864 PMID:33569422 PMID:33964006 PMID:34101167 PMID:35778421 PMID:16943309 More...
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RGD:13524568 |
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
mRNA:decreased expression:kidney ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type |
ClinVar RGD |
PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:21228398 PMID:21274727 PMID:21790888 PMID:22882926 PMID:23041322 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24162162 PMID:25124979 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741905 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28862642 PMID:29068549 PMID:29801666 PMID:29956005 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31328266 PMID:31395954 PMID:31813136 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33123899 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33940108 PMID:34008892 PMID:34032358 PMID:15067314 More...
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RGD:1642440 |
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Pla2g4a |
phospholipase A2 group 4A |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:12490538 |
RGD:1642471 |
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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G |
Plce1 |
phospholipase C, epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Plcg1 |
phospholipase C, gamma 1 |
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TAS |
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RGD |
PMID:12009430 |
RGD:625563 |
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
treatment |
IDA |
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RGD |
PMID:21147840 |
RGD:14701037 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Prkcsh |
PRKCSH beta subunit of glucosidase II |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21685914 |
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NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:17537981 |
RGD:2300262 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IMP |
protein:increased expression:kidney |
RGD |
PMID:17537981 |
RGD:2300262 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptma |
prothymosin alpha |
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ISS |
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MouseDO |
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NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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G |
Sec63 |
SEC63 homolog, protein translocation regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21685914 |
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NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
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G |
Slc7a9 |
solute carrier family 7 member 9 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease, adult type |
ClinVar |
PMID:25741868 |
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NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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G |
Sod1 |
superoxide dismutase 1 |
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IEP |
mRNA:decreased expression:kidney (rat) |
RGD |
PMID:23006058 |
RGD:8657020 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
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RGD |
PMID:22025716 |
RGD:7243974 |
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tnc |
tenascin C |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:15565633 |
RGD:4889614 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease, adult type |
ClinVar |
PMID:17304050 PMID:22703879 PMID:22903760 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Tulp3 |
TUB like protein 3 |
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ISS |
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MouseDO |
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NCBI chr 4:161,590,478...161,632,244
Ensembl chr 4:161,590,479...161,632,149
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G |
Xylt2 |
xylosyltransferase 2 |
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ISS |
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MouseDO |
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NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 1 |
ClinVar |
PMID:25711638 PMID:25741868 PMID:25920554 PMID:28492532 PMID:30283887 |
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
mRNA:increased expression:renal cortex (human) mRNA:increased expression:kidney (mouse) |
RGD |
PMID:19346236 PMID:16449663 |
RGD:7207447, RGD:7207779 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO ISS |
ClinVar Annotator: match by term: PKD1-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 1 OMIM:173900 |
OMIM ClinVar MouseDO |
PMID:10364515 PMID:11012875 PMID:11115377 PMID:11967008 PMID:12007219 PMID:12482949 PMID:15772804 PMID:16430766 PMID:17574468 PMID:17582161 PMID:18257781 PMID:18640754 PMID:18837007 PMID:19759016 PMID:21115670 PMID:21694639 PMID:22008521 PMID:22383692 PMID:22508176 PMID:22608885 PMID:22995991 PMID:23064367 PMID:23266634 PMID:23300259 PMID:23431072 PMID:23760289 PMID:23985799 PMID:24033266 PMID:24374109 PMID:24611717 PMID:24694054 PMID:25263802 PMID:25333066 PMID:25646624 PMID:25741868 PMID:26274329 PMID:26453610 PMID:26467025 PMID:26489027 PMID:26632257 PMID:26940125 PMID:26950445 PMID:27165007 PMID:27499327 PMID:27567292 PMID:27753196 PMID:27782177 PMID:27835667 PMID:28378423 PMID:29326913 PMID:29529603 PMID:29590654 PMID:29633482 PMID:29687770 PMID:29801666 PMID:30333007 PMID:30586318 PMID:30647506 PMID:30820006 PMID:30847201 PMID:30927425 PMID:30989420 PMID:31056860 PMID:31317121 PMID:31598726 PMID:31730820 PMID:31738409 PMID:31740684 PMID:32203225 PMID:32381729 PMID:32398770 PMID:32457805 PMID:32512653 PMID:33532864 PMID:33639313 PMID:33964006 PMID:35778421 PMID:36706243 PMID:36755831 PMID:36833371 PMID:37543885 More...
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Fam13a |
family with sequence similarity 13, member A |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO ISS |
ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 2 OMIM:613095 |
OMIM ClinVar MouseDO |
PMID:8650545 PMID:9175744 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 PMID:9949210 PMID:10405208 PMID:10411676 PMID:10417277 PMID:10497221 PMID:10541293 PMID:10648666 PMID:10655555 PMID:10760080 PMID:10835625 PMID:11007674 PMID:11967008 PMID:11968093 PMID:12707387 PMID:12842373 PMID:14993477 PMID:15192819 PMID:15772804 PMID:15775720 PMID:16199547 PMID:16223735 PMID:16430766 PMID:16540757 PMID:17100995 PMID:17303584 PMID:17574468 PMID:17576681 PMID:17582161 PMID:17699277 PMID:18178578 PMID:18257781 PMID:18664456 PMID:18837007 PMID:19158373 PMID:19491093 PMID:19556541 PMID:19936001 PMID:20168298 PMID:20301424 PMID:20408813 PMID:20881056 PMID:20950398 PMID:21115670 PMID:21551026 PMID:21719175 PMID:22008521 PMID:22034641 PMID:22114106 PMID:22185115 PMID:22367170 PMID:22383692 PMID:22508176 PMID:22797899 PMID:22863349 PMID:22995991 PMID:23300259 PMID:23376035 PMID:23985799 PMID:24113780 PMID:24374109 PMID:24611717 PMID:24658975 PMID:25149526 PMID:25333066 PMID:25491204 PMID:25574838 PMID:25741868 PMID:25741894 PMID:26150605 PMID:26453610 PMID:26467025 PMID:26692149 PMID:26920127 PMID:26950445 PMID:27165007 PMID:27366664 PMID:27401137 PMID:27499327 PMID:27567292 PMID:27782177 PMID:27835667 PMID:27884173 PMID:27894351 PMID:28356211 PMID:28492532 PMID:28522688 PMID:29038287 PMID:29321346 PMID:29338003 PMID:29378535 PMID:29520754 PMID:29529603 PMID:29633482 PMID:30333007 PMID:30369598 PMID:30586318 PMID:30639418 PMID:30816285 PMID:30820006 PMID:30989420 PMID:31056860 PMID:31317121 PMID:31488014 PMID:31514750 PMID:31589614 PMID:31740684 PMID:31948117 PMID:31979107 PMID:32332171 PMID:32384474 PMID:32457805 PMID:32816041 PMID:32970388 PMID:33095447 PMID:33437033 PMID:33454723 PMID:33532864 PMID:33569422 PMID:33639313 PMID:33964006 PMID:34008892 PMID:34101167 PMID:35005812 PMID:35778421 More...
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Ganab |
glucosidase II alpha subunit |
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ISO |
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease |
OMIM ClinVar |
PMID:25741868 PMID:27259053 PMID:28492532 PMID:33097077 PMID:33437033 |
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NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695
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G |
Ints5 |
integrator complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease |
ClinVar |
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NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease |
ClinVar |
PMID:10364515 PMID:10854095 PMID:15772804 PMID:17582161 PMID:21115670 PMID:21694639 PMID:22090377 PMID:22383692 PMID:22508176 PMID:23431072 PMID:24374109 PMID:25333066 PMID:25646624 PMID:25741868 PMID:26139440 PMID:26467025 PMID:26489027 PMID:26632257 PMID:26661679 PMID:27499327 PMID:27835667 PMID:30333007 PMID:30847201 PMID:31317121 PMID:31730820 PMID:31740684 PMID:33532864 PMID:36706243 More...
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease |
ClinVar |
PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16632497 PMID:17576681 PMID:18503009 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:22415584 PMID:22882926 PMID:23041322 PMID:23582048 PMID:24033266 PMID:24162162 PMID:24984783 PMID:25034658 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26489027 PMID:26489029 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28170084 PMID:28252636 PMID:28375157 PMID:28492532 PMID:28578020 PMID:29068549 PMID:29095814 PMID:29801666 PMID:29956005 PMID:30275481 PMID:30343465 PMID:30507656 PMID:30586318 PMID:30650191 PMID:30773290 PMID:30787879 PMID:31130284 PMID:31395617 PMID:31395954 PMID:31589614 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31980526 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:32939031 PMID:33059616 PMID:33112055 PMID:33123899 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33774617 PMID:33845788 PMID:33940108 PMID:34008892 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: PKD3 |
ClinVar |
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:30348783 PMID:34008892 More...
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NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO ISS |
ClinVar Annotator: match by term: PKHD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4 OMIM:263200 |
OMIM ClinVar MouseDO |
PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:17576681 PMID:18414213 PMID:18503009 PMID:18769842 PMID:19021639 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20301501 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:21493627 PMID:21945273 PMID:22034641 PMID:22415584 PMID:22882926 PMID:23041322 PMID:23389334 PMID:23582048 PMID:24009235 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25525159 PMID:25589618 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741880 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:26862157 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29068549 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29947050 PMID:29956005 PMID:30260789 PMID:30275481 PMID:30343465 PMID:30366773 PMID:30507656 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31328266 PMID:31395617 PMID:31395954 PMID:31589614 PMID:31624253 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32901917 PMID:32939031 PMID:33059616 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33774617 PMID:33845788 PMID:33940108 PMID:34008892 PMID:34032358 PMID:34405919 PMID:34426522 PMID:34487536 PMID:34536170 PMID:35314707 PMID:35627109 PMID:35715958 PMID:35778421 PMID:35812281 PMID:36065636 PMID:36307859 PMID:36549658 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 4 |
ClinVar |
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:30348783 PMID:34008892 More...
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NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Dzip1l |
DAZ interacting zinc finger protein 1-like |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28530676 |
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NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988
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Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease |
OMIM ClinVar |
PMID:25741868 PMID:29706351 PMID:32631624 |
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NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
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Alg5 |
ALG5, dolichyl-phosphate beta-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Polycystic kidney disease 7 |
OMIM ClinVar |
PMID:25741868 PMID:35896117 |
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NCBI chr 2:138,936,998...138,951,228
Ensembl chr 2:138,936,993...138,951,216
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia |
ClinVar |
PMID:25741868 |
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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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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8874114 PMID:9536098 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:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 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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Nek8 |
NIMA-related kinase 8 |
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ISO |
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 |
OMIM ClinVar |
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 PMID:26862157 PMID:26967905 PMID:28492532 More...
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NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
ClinVar |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Iqcb1 |
IQ motif containing B1 |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
ClinVar |
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24033266 PMID:24625443 PMID:25741868 PMID:28041643 PMID:28492532 PMID:33535056 More...
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NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Nphp1 |
nephrocystin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
CTD ClinVar |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:30108342 PMID:32483926 PMID:33193692 More...
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia |
ClinVar |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Tmem218 |
transmembrane protein 218 |
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ISS |
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 |
MouseDO |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal dysplasia retinal aplasia |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
DNA:missense mutations, frameshift mutations, snp:multiple (human) ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome |
ClinVar RGD |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 PMID:33517396 PMID:34529350 PMID:36909829 PMID:23683095 More...
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RGD:11552600 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 1 |
OMIM ClinVar |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:30108342 PMID:32483926 PMID:33193692 More...
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:27854218 PMID:28492532 PMID:28700940 PMID:29127258 PMID:34295353 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 |
Iqcb1 |
IQ motif containing B1 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 5 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations:exon:multiple |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:15723066 PMID:16199547 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: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:32531858 PMID:33535056 PMID:15723066 More...
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RGD:11537383 |
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 6 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:34906470 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 6 |
ClinVar |
PMID:20683928 PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Adss2 |
adenylosuccinate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 PMID:25741868 PMID:28492532 More...
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Catspere |
catsper channel auxiliary subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
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Cep170 |
centrosomal protein 170 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:20835237 PMID:22190896 PMID:28492532 |
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NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:90,065,900...90,075,386
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G |
Desi2 |
desumoylating isopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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G |
Pld5 |
phospholipase D family, member 5 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:20835237 PMID:28492532 |
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NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 PMID:22190896 PMID:22626039 PMID:23188109 PMID:23559409 PMID:25640679 PMID:25741868 PMID:26968886 PMID:27486776 PMID:28492532 PMID:31844813 PMID:32432520 PMID:32483926 More...
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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G |
Spmip3 |
sperm microtubule inner protein 3 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:30586318 PMID:31216405 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:34295353 PMID:36909829 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 9 |
OMIM ClinVar |
PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Crb2 |
crumbs cell polarity complex component 2 |
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ISO |
ClinVar Annotator: match by term: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:30586318 PMID:30996265 PMID:32581362 PMID:36549870 More...
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NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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