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G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 PMID:28375157 PMID:28492532 PMID:37628703 More...
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NCBI chr 1:69,309,652...69,346,087
Ensembl chr 1:69,306,314...69,346,121
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G |
ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 |
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NCBI chr 1:103,126,430...103,222,890
Ensembl chr 1:103,126,436...103,209,042
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G |
CDC25A |
cell division cycle 25A |
treatment |
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
RGD ClinVar |
PMID:22155366 |
RGD:14700990 |
NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741
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G |
CTNNB1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:28492532 |
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NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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G |
DKK3 |
dickkopf WNT signaling pathway inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
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NCBI chr 1:52,823,415...52,868,804
Ensembl chr 1:52,824,176...52,868,885
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G |
GANAB |
glucosidase II alpha subunit |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33097077 |
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NCBI chr 1:11,257,867...11,279,534
Ensembl chr 1:11,257,935...11,281,111
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G |
GPBAR1 |
G protein-coupled bile acid receptor 1 |
treatment |
ISO |
protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr10:104,141,177...104,145,557
Ensembl chr10:104,144,421...104,145,413
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G |
HHEX |
hematopoietically expressed homeobox |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
|
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NCBI chr 9:85,957,684...85,963,414
Ensembl chr 9:85,957,779...85,963,404
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G |
HNF1B |
HNF1 homeobox B |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 PMID:21775974 PMID:22114815 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24429398 PMID:24897035 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26467025 PMID:26899772 PMID:28492532 PMID:30259503 More...
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NCBI chr16:30,033,486...30,097,106
Ensembl chr16:30,036,766...30,097,088
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G |
HNF4A |
hepatocyte nuclear factor 4 alpha |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29355436 PMID:30191603 PMID:31264968 PMID:31595705 PMID:33846082 PMID:34373539 PMID:35256061 More...
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NCBI chr 2:19,390,870...19,466,300
Ensembl chr 2:19,388,891...19,421,664
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G |
LRP5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30452590 |
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NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383
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G |
LRP6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:26901136 PMID:28492532 |
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NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663
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G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
|
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NCBI chr19:12,474,479...12,572,144
Ensembl chr19:12,474,468...12,572,250
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G |
ONECUT1 |
one cut homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:25741868 |
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NCBI chr26:30,609,392...30,645,996
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G |
ONECUT2 |
one cut homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
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NCBI chr18:22,248,353...22,296,290
Ensembl chr18:22,252,123...22,296,166
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G |
PKD1 |
polycystin 1, transient receptor potential channel interacting |
severity |
ISO |
|
RGD |
PMID:9988265 PMID:21685914 |
RGD:14402033 RGD:14402035 |
NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551
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G |
PKD2 |
polycystin 2, transient receptor potential cation channel |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
|
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NCBI chr 7:36,369,226...36,445,713
Ensembl chr 7:36,369,524...36,443,612
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G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
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:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:22415584 PMID:24162162 PMID:24984783 PMID:25124979 PMID:25193386 PMID:25326637 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: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 chr17:20,411,746...20,873,601
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G |
PRKCSH |
PRKCSH beta subunit of glucosidase II |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:10,360,392...10,375,785
Ensembl chr 6:10,360,751...10,374,208
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G |
RUVBL1 |
RuvB like AAA ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
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NCBI chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830
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G |
SEC61A1 |
SEC61 translocon subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
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NCBI chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039
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G |
SEC61A2 |
SEC61 translocon subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
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NCBI chr 9:12,176,814...12,216,343
Ensembl chr 9:12,176,894...12,215,422
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G |
SEC63 |
SEC63 homolog, protein translocation regulator |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
PMID:20095989 PMID:25741868 |
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NCBI chr13:65,902,796...65,993,092
Ensembl chr13:65,902,956...65,996,514
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G |
UCP2 |
uncoupling protein 2 |
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ISO |
OMIM:174050 |
MouseDO |
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NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450
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G |
XBP1 |
X-box binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cystic disease of liver |
ClinVar |
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NCBI chr19:11,670,605...11,677,168
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G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 PMID:28375157 PMID:28492532 PMID:37628703 More...
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NCBI chr 1:69,309,652...69,346,087
Ensembl chr 1:69,306,314...69,346,121
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G |
ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 |
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NCBI chr 1:103,126,430...103,222,890
Ensembl chr 1:103,126,436...103,209,042
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G |
CDC25A |
cell division cycle 25A |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease |
ClinVar |
|
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NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741
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G |
CTNNB1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:28492532 |
|
NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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G |
DKK3 |
dickkopf WNT signaling pathway inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr 1:52,823,415...52,868,804
Ensembl chr 1:52,824,176...52,868,885
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G |
FBN1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Polycystic liver disease 1 |
ClinVar |
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NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217
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G |
GANAB |
glucosidase II alpha subunit |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33097077 |
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NCBI chr 1:11,257,867...11,279,534
Ensembl chr 1:11,257,935...11,281,111
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G |
HDAC6 |
histone deacetylase 6 |
treatment |
ISO |
protein:increased expression:liver: mRNA,protein:increased expression:cholangiocytee,liver: |
RGD |
PMID:24434010 |
RGD:9681551 |
NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929
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G |
HHEX |
hematopoietically expressed homeobox |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr 9:85,957,684...85,963,414
Ensembl chr 9:85,957,779...85,963,404
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G |
HNF1B |
HNF1 homeobox B |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 PMID:21775974 PMID:22114815 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24429398 PMID:24897035 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26467025 PMID:26899772 PMID:28492532 PMID:30259503 More...
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NCBI chr16:30,033,486...30,097,106
Ensembl chr16:30,036,766...30,097,088
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G |
HNF4A |
hepatocyte nuclear factor 4 alpha |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29355436 PMID:30191603 PMID:31264968 PMID:31595705 PMID:33846082 PMID:34373539 PMID:35256061 More...
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NCBI chr 2:19,390,870...19,466,300
Ensembl chr 2:19,388,891...19,421,664
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G |
LRP5 |
LDL receptor related protein 5 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.R118W (3562C>T) (human) ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 |
RGD ClinVar |
PMID:24706814 PMID:25741868 PMID:28492532 PMID:30452590 |
RGD:11063140 |
NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383
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G |
LRP6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:26901136 PMID:28492532 |
|
NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663
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G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr19:12,474,479...12,572,144
Ensembl chr19:12,474,468...12,572,250
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Polycystic liver disease 1 |
ClinVar |
|
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NCBI chr 6:10,349,063...10,360,292
Ensembl chr 6:10,349,069...10,360,250
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G |
ONECUT1 |
one cut homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
PMID:25741868 |
|
NCBI chr26:30,609,392...30,645,996
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G |
ONECUT2 |
one cut homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr18:22,248,353...22,296,290
Ensembl chr18:22,252,123...22,296,166
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G |
PKD1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Polycystic liver disease 1 |
ClinVar |
PMID:9668165 PMID:17582161 PMID:21744088 PMID:22185115 PMID:25263802 PMID:25333066 PMID:25741868 PMID:26467025 PMID:29633482 PMID:30816285 PMID:30927425 PMID:31056860 PMID:31730820 PMID:31844813 PMID:32166738 PMID:33168999 PMID:33532864 PMID:34739738 PMID:36755831 More...
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NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551
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G |
PKD2 |
polycystin 2, transient receptor potential cation channel |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:36,369,226...36,445,713
Ensembl chr 7:36,369,524...36,443,612
|
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G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
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:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:22415584 PMID:24162162 PMID:24984783 PMID:25124979 PMID:25193386 PMID:25326637 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: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 chr17:20,411,746...20,873,601
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G |
PRKCSH |
PRKCSH beta subunit of glucosidase II |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 |
OMIM ClinVar |
PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 PMID:22415584 PMID:25741868 PMID:26046366 PMID:28166811 PMID:28492532 PMID:29038287 More...
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|
NCBI chr 6:10,360,392...10,375,785
Ensembl chr 6:10,360,751...10,374,208
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G |
RUVBL1 |
RuvB like AAA ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830
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G |
SEC61A1 |
SEC61 translocon subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039
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G |
SEC61A2 |
SEC61 translocon subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr 9:12,176,814...12,216,343
Ensembl chr 9:12,176,894...12,215,422
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G |
SEC63 |
SEC63 homolog, protein translocation regulator |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 1 |
ClinVar |
PMID:20095989 PMID:25741868 PMID:28492532 |
|
NCBI chr13:65,902,796...65,993,092
Ensembl chr13:65,902,956...65,996,514
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G |
XBP1 |
X-box binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease |
ClinVar |
|
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NCBI chr19:11,670,605...11,677,168
|
|
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G |
SEC63 |
SEC63 homolog, protein translocation regulator |
|
ISO |
ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 2 |
OMIM ClinVar |
PMID:9536098 PMID:15133510 PMID:17576681 PMID:20095989 PMID:24033266 PMID:25741868 PMID:28375157 PMID:28492532 More...
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NCBI chr13:65,902,796...65,993,092
Ensembl chr13:65,902,956...65,996,514
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|
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G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts |
OMIM ClinVar |
PMID:9536098 PMID:15235028 PMID:16199547 PMID:17576681 PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 PMID:28375157 PMID:28492532 PMID:36574950 PMID:37628703 More...
|
|
NCBI chr 1:69,309,652...69,346,087
Ensembl chr 1:69,306,314...69,346,121
|
|
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G |
LRP5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts |
OMIM ClinVar |
PMID:9536098 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21528003 PMID:22456437 PMID:23441120 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26467025 PMID:28192794 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 More...
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NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383
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