RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Ap1s1 |
adaptor related protein complex 1 subunit sigma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
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NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
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Asah1 |
N-acylsphingosine amidohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
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NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Asns |
asparagine synthetase (glutamine-hydrolyzing) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
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NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Depp1 |
DEPP autophagy regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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NCBI chr 4:149,910,794...149,913,013
Ensembl chr 4:149,910,779...149,914,542
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Fabp1 |
fatty acid binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
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NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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Fads2 |
fatty acid desaturase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21123845 |
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NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
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Fndc4 |
fibronectin type III domain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
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Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hpn |
hepsin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
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NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811
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Inhbe |
inhibin subunit beta E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
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NCBI chr 7:63,177,558...63,178,983
Ensembl chr 7:63,176,219...63,179,172
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Lss |
lanosterol synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
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NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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Nupr1 |
nuclear protein 1, transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
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NCBI chr 1:181,213,292...181,215,327
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Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21123845 |
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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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Scd |
stearoyl-CoA desaturase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21123845 |
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NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina3n |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
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Slc2a3 |
solute carrier family 2 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
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NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Srebf1 |
sterol regulatory element binding transcription factor 1 |
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IEP |
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RGD |
PMID:17524234 |
RGD:2308821 |
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf2 |
sterol regulatory element binding transcription factor 2 |
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IEP |
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RGD |
PMID:17524234 |
RGD:2308821 |
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tagln |
transgelin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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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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Wipi1 |
WD repeat domain, phosphoinositide interacting 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
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NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:16115302 |
RGD:5686674 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2 |
adiponectin receptor 2 |
treatment |
IEP ISO |
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RGD |
PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387 |
RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Aldh2 |
aldehyde dehydrogenase 2 family member |
severity treatment susceptibility |
IDA ISO |
human transgene in mouse model protein:altered processing:liver (mouse) DNA:missense mutation:cds:p.E504K (human) |
RGD |
PMID:17058263 PMID:25457208 PMID:29156373 PMID:29063269 |
RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 |
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
protein:increased expression:liver (human) |
RGD |
PMID:29307797 |
RGD:153297819 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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C1qc |
complement C1q C chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35789393 |
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NCBI chr 5:149,127,424...149,130,732
Ensembl chr 5:149,127,415...149,131,017
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Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
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RGD |
PMID:25557254 |
RGD:14995489 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2 |
C-C motif chemokine receptor 2 |
treatment |
ISO |
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RGD |
PMID:25557254 |
RGD:14995489 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5 |
C-C motif chemokine receptor 5 |
disease_progression |
ISO |
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RGD |
PMID:27859576 |
RGD:14401742 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd36 |
CD36 molecule |
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ISO |
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RGD |
PMID:24280415 |
RGD:11041117 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Crp |
C-reactive protein |
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IEP |
protein:increased expression:serum: |
RGD |
PMID:21806828 |
RGD:9491781 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Ctsb |
cathepsin B |
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IEP |
protein:increased activity:liver, cytosol (rat) |
RGD |
PMID:17850215 |
RGD:2315516 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26428356 PMID:25583360 PMID:24064383 |
RGD:14700884, RGD:14700870 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dnmt1 |
DNA methyltransferase 1 |
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ISO |
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RGD |
PMID:22905112 |
RGD:9588654 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Hamp |
hepcidin antimicrobial peptide |
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IEP |
mRNA:decreased expression:liver |
RGD |
PMID:19253830 |
RGD:11041633 |
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Ldlr |
low density lipoprotein receptor |
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IEP |
protein:decreased expression: liver (rat) |
RGD |
PMID:20028367 |
RGD:21410185 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Mir155 |
microRNA 155 |
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ISO |
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RGD |
PMID:26867493 |
RGD:25671474 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Pemt |
phosphatidylethanolamine N-methyltransferase |
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IEP |
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RGD |
PMID:17156888 |
RGD:1642369 |
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18703563 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Serpine1 |
serpin family E member 1 |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25561792 |
RGD:11075083 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1 |
serpin family F member 1 |
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IEP |
protein:decreased expression:liver |
RGD |
PMID:18996124 |
RGD:2312349 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19951287 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2 |
superoxide dismutase 2 |
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IEP |
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RGD |
PMID:11477087 |
RGD:1625694 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Stat4 |
signal transducer and activator of transcription 4 |
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IEP |
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RGD |
PMID:18296740 |
RGD:7207884 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tlr4 |
toll-like receptor 4 |
severity |
ISO |
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RGD |
PMID:29884546 PMID:21463341 |
RGD:14697697, RGD:14700554 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf |
tumor necrosis factor |
susceptibility treatment |
ISO IEP |
DNA:SNP:promoter:-238G>A (human) |
RGD |
PMID:9214463 PMID:20143470 |
RGD:14995434, RGD:38508901 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
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NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
OMIM ClinVar |
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:9536098 PMID:15856305 PMID:17576681 PMID:17616409 PMID:20484222 PMID:25741868 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29995202 PMID:31439510 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Aamp |
angio-associated, migratory cell protein |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
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Arpc2 |
actin related protein 2/3 complex, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Asic4 |
acid sensing ion channel subunit family member 4 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a |
autophagy related 9A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
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Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Catip |
ciliogenesis associated TTC17 interacting protein |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2 |
cyclin-dependent kinase 5 regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65 |
cilia and flagella associated protein 65 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Chpf |
chondroitin polymerizing factor |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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Cnot9 |
CCR4-NOT transcription complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Cryba2 |
crystallin, beta A2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1 |
CTD small phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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Cxcr1 |
C-X-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
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ISO |
OMIM:213700, R446C, R362C ClinVar Annotator: match by term: Cholestanol storage disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2019602 PMID:7697869 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8309576 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9186905 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9654207 PMID:9790667 PMID:10206677 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10775536 PMID:11181744 PMID:11313766 PMID:11737215 PMID:11903362 PMID:12000359 PMID:12117727 PMID:12270007 PMID:12555943 PMID:12933951 PMID:14741198 PMID:14999499 PMID:15795599 PMID:16157755 PMID:16199547 PMID:16278884 PMID:16816916 PMID:17030721 PMID:17319284 PMID:17444890 PMID:17576681 PMID:17697869 PMID:18227423 PMID:18414213 PMID:19092443 PMID:19204079 PMID:19373932 PMID:19801147 PMID:20301583 PMID:20402754 PMID:20450308 PMID:20558929 PMID:20602799 PMID:20925952 PMID:20981092 PMID:21073839 PMID:21228398 PMID:21345536 PMID:21404287 PMID:21553098 PMID:21627786 PMID:21645175 PMID:21764626 PMID:21955034 PMID:21958693 PMID:21966169 PMID:22197981 PMID:22336472 PMID:22849591 PMID:22878431 PMID:23212406 PMID:23287330 PMID:23659550 PMID:24002088 PMID:24033266 PMID:24080357 PMID:24174808 PMID:24584636 PMID:24627108 PMID:24746394 PMID:25112387 PMID:25447658 PMID:25525159 PMID:25558065 PMID:25741868 PMID:25862734 PMID:25941960 PMID:25983621 PMID:26156051 PMID:26206375 PMID:26467025 PMID:26519892 PMID:26622071 PMID:26643207 PMID:26861945 PMID:26906304 PMID:26937392 PMID:27084087 PMID:27142713 PMID:27225395 PMID:27455001 PMID:27535533 PMID:27678445 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28324197 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28749476 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31450232 PMID:31743419 PMID:31796091 PMID:32523054 PMID:32581172 PMID:32714376 PMID:33313117 PMID:33400472 PMID:33830582 PMID:34012265 PMID:34145886 PMID:2019602 More...
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RGD:1600872 |
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep |
aspartyl aminopeptidase |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev |
FEV transcription factor, ETS family member |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:10218527 PMID:10830906 PMID:10982180 PMID:11313763 PMID:11493200 PMID:12172392 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12497637 PMID:12505163 PMID:14738110 PMID:14985372 PMID:15146474 PMID:15253766 PMID:15365987 PMID:15967879 PMID:16300957 PMID:16380907 PMID:17041943 PMID:17661817 PMID:18414213 PMID:19173109 PMID:19941053 PMID:20301449 PMID:21094084 PMID:22037723 PMID:22281373 PMID:24033266 PMID:24158611 PMID:24793888 PMID:25189242 PMID:25214170 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26896187 PMID:28492532 PMID:28590052 PMID:29293505 PMID:29311818 PMID:30311386 PMID:33333757 PMID:163800907 More...
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Glb1l |
galactosidase, beta 1-like |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Gmppa |
GDP-mannose pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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Gpbar1 |
G protein-coupled bile acid receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Mir26b |
microRNA 26b |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375 |
microRNA 375 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1 |
nonhomologous end-joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
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Plcd4 |
phospholipase C, delta 4 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd |
PNKD metallo-beta-lactamase domain containing |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
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NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28590052 |
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NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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Ptprn |
protein tyrosine phosphatase, receptor type, N |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18 |
regulated endocrine-specific protein 18 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2 |
reticulophagy regulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25 |
ring finger protein 25 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3 |
solute carrier family 23, member 3 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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Speg |
striated muscle enriched protein kinase |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16 |
serine/threonine kinase 16 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36 |
serine/threonine kinase 36 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Tmem198 |
transmembrane protein 198 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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Ttll4 |
tubulin tyrosine ligase like 4 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37 |
ubiquitin specific peptidase 37 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1 |
villin 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6 |
Wnt family member 6 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
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NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b |
zinc finger AN1-type containing 2B |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142 |
zinc finger protein 142 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Lipa |
lipase A, lysosomal acid type |
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ISO |
ClinVar Annotator: match by term: Cholesteryl ester storage disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:24295952 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:29958253 PMID:31182375 PMID:31230978 PMID:31392116 PMID:6097111 More...
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RGD:1600621 |
NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
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G |
Tspo |
translocator protein |
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IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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G |
Tspoem1Vpl |
translocator protein; ZFN induced mutant1, Vpl |
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IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
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G |
Tspoem2Vpl |
translocator protein; ZFN induced mutant2, Vpl |
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IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
OMIM ClinVar |
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:11309366 PMID:16199547 PMID:17576681 PMID:17616409 PMID:18429043 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26831127 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Adk |
adenosine kinase |
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ISO |
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RGD |
PMID:11997462 |
RGD:1300259 |
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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G |
Ace |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:20941593 |
RGD:12879402 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt |
angiotensinogen |
severity |
ISO |
DNA:polymorphism:promoter: |
RGD |
PMID:24020479 |
RGD:13432161 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Ar |
androgen receptor |
treatment |
ISO |
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RGD |
PMID:25701874 |
RGD:11576234 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Gla |
galactosidase, alpha |
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ISO IMP |
DNA:point mutation:exon:R356W ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1677356 PMID:1753437 PMID:1846223 PMID:2152885 PMID:2160973 PMID:2171331 PMID:2393552 PMID:2539398 PMID:2744760 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7599642 PMID:7911050 PMID:7951217 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8807334 PMID:8834244 PMID:8875188 PMID:8878432 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9268104 PMID:9395081 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10845698 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11179018 PMID:11295840 PMID:11322659 PMID:11531969 PMID:11531972 PMID:11668641 PMID:11688386 PMID:11804208 PMID:11828341 PMID:11889412 PMID:11914245 PMID:12068026 PMID:12175777 PMID:12359124 PMID:12428061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15353880 PMID:15611419 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15924232 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18003767 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18154966 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18565198 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19265719 PMID:19285316 PMID:19287194 PMID:19373884 PMID:19387866 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19925601 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21333496 PMID:21353612 PMID:21517827 PMID:21549080 PMID:21587323 PMID:21598360 PMID:21683120 PMID:21700093 PMID:21804088 PMID:21890869 PMID:21896204 PMID:21946453 PMID:21972175 PMID:22004918 PMID:22063097 PMID:22078290 PMID:22176145 PMID:22205110 PMID:22226368 PMID:22227322 PMID:22241068 PMID:22305854 PMID:22336178 PMID:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22880956 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23210910 PMID:23219219 PMID:23248976 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430848 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23818648 PMID:23826564 PMID:23867994 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 PMID:24094560 PMID:24236025 PMID:24334114 PMID:24365053 PMID:24380807 PMID:24386359 PMID:24395922 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:24980630 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25487570 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25640679 PMID:25655062 PMID:25663229 PMID:25741868 PMID:25750198 PMID:25762495 PMID:25795794 PMID:25835592 PMID:25900714 PMID:25955246 PMID:25974833 PMID:25977923 PMID:26047621 PMID:26070511 PMID:26083343 PMID:26179544 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26593248 PMID:26629990 PMID:26631895 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26869469 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:27531472 PMID:27532257 PMID:27554049 PMID:27560961 PMID:27576502 PMID:27585509 PMID:27595546 PMID:27629047 PMID:27657681 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28069318 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28340691 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28382085 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28496025 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28771489 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29121657 PMID:29132836 PMID:29186537 PMID:29203563 PMID:29215092 PMID:29227985 PMID:29247119 PMID:29305833 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30064518 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30246259 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30477121 PMID:30497360 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30739116 PMID:30773290 PMID:30804731 PMID:30853972 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31291414 PMID:31319156 PMID:31372342 PMID:31392112 PMID:31446751 PMID:31449323 PMID:31519519 PMID:31566927 PMID:31613176 PMID:31649303 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32150461 PMID:32161151 PMID:32246457 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32583479 PMID:32699723 PMID:32714835 PMID:32719972 PMID:32793709 PMID:32797665 PMID:32802993 PMID:32860008 PMID:32901917 PMID:32995357 PMID:33016649 PMID:33036343 PMID:33204599 PMID:33495303 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33907643 PMID:34205365 PMID:34270679 PMID:34401344 PMID:34803097 PMID:2539398 PMID:29563343 More...
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RGD:1601350, RGD:150429980 |
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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G |
Glaem2Mcwi |
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin |
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IMP |
compared to wild type |
RGD |
PMID:29563343 |
RGD:150429980 |
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G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
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ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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G |
Il1a |
interleukin 1 alpha |
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ISO |
DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:17353161 |
RGD:6907117 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Mylk2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:28492532 |
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NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNPs,haplotype: : |
RGD |
PMID:18278558 |
RGD:13432071 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Gla |
galactosidase, alpha |
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ISO |
ClinVar Annotator: match by term: Fabry disease, cardiac variant |
ClinVar |
PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 PMID:16773563 PMID:17532296 PMID:17555407 PMID:19287194 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:24980630 PMID:25382311 PMID:25611685 PMID:25741868 PMID:26869469 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27585509 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:28728877 PMID:29215092 PMID:29875425 PMID:30380558 PMID:30386727 PMID:30662066 PMID:30804731 PMID:31200018 PMID:31519519 More...
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NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency |
OMIM ClinVar |
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 PMID:11241842 PMID:16951918 PMID:17576681 PMID:20560208 PMID:21893389 PMID:22565078 PMID:23681708 PMID:23707712 PMID:24033266 PMID:24164096 PMID:24355074 PMID:24614645 PMID:25741868 PMID:26467025 PMID:26945816 PMID:27411168 PMID:28492532 PMID:28733637 PMID:29358611 PMID:29379059 PMID:30815900 PMID:31680123 PMID:32706452 PMID:32875576 More...
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NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10428046 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
treatment |
IEP ISO |
associated with adult growth hormone deficiency |
RGD |
PMID:15995177 PMID:26362727 PMID:30130150 |
RGD:1598534, RGD:21408552, RGD:18936993 |
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
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IEP |
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RGD |
PMID:16139386 |
RGD:1598602 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:17640958 |
RGD:2301064 |
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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G |
Acaca |
acetyl-CoA carboxylase alpha |
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IDA |
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RGD |
PMID:16485039 |
RGD:1625727 |
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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G |
Acacb |
acetyl-CoA carboxylase beta |
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IDA |
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RGD |
PMID:16485039 |
RGD:1625727 |
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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IEP ISO |
associated with hepatitis C;protein:increased expression:serum protein:increased expression:plasma |
RGD |
PMID:17006986 PMID:20714777 PMID:16115302 |
RGD:1599139, RGD:5686883, RGD:5686674 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adipor2 |
adiponectin receptor 2 |
treatment |
IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:30225267 PMID:19076162 |
RGD:21406435, RGD:2307264 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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G |
Adk |
adenosine kinase |
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ISS |
OMIM:228100 |
MouseDO |
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NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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G |
Adrb2 |
adrenoceptor beta 2 |
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ISO |
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RGD |
PMID:11718682 |
RGD:1559320 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Akp3 |
alkaline phosphatase 3, intestine, not Mn requiring |
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ISO |
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RGD |
PMID:17332477 |
RGD:14349048 |
NCBI chr 9:87,804,749...87,807,866
Ensembl chr 9:87,804,749...87,807,913
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32045588 |
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
associated with obesity |
RGD |
PMID:16197789 |
RGD:1601177 |
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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G |
Angptl4 |
angiopoietin-like 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28842503 PMID:15837923 |
RGD:1625354 |
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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G |
Apoa1 |
apolipoprotein A1 |
treatment |
IEP |
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RGD |
PMID:30231880 |
RGD:25671436 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apob |
apolipoprotein B |
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IEP ISO |
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12048068 PMID:17303181 PMID:17203948 |
RGD:2325770 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoe |
apolipoprotein E |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:32853627 PMID:29459263 |
RGD:13703129 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Atf4 |
activating transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
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NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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G |
Atp5if1 |
ATP synthase inhibitory factor subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr 5:144,738,950...144,742,668
Ensembl chr 5:144,738,950...144,742,668
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17303181 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
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NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Car3 |
carbonic anhydrase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280
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G |
Cat |
catalase |
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IEP ISO |
protein:decreased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10860543 PMID:21452373 |
RGD:5130871 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29684222 PMID:22983634 |
RGD:8548844 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:28011329 PMID:28011329 |
RGD:14995306, RGD:14995306 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Cd163 |
CD163 molecule |
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ISO |
associated with hepatitis B;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd36 |
CD36 molecule |
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ISO |
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RGD |
PMID:19788606 |
RGD:6893500 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
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NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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G |
Cndp2 |
carnosine dipeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15787813 |
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
|
IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:20347174 |
RGD:4144089 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
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RGD |
PMID:14614508 |
RGD:734818 |
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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G |
Ctsb |
cathepsin B |
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IEP |
mRNA, protein:increased expression, increased activity:liver, cytosol (rat) |
RGD |
PMID:18452148 |
RGD:2315513 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
mRNA,protein:increased expression:liver,serum |
RGD |
PMID:25048951 |
RGD:27095890 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cycs |
cytochrome c, somatic |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10860543 |
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NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11929713 |
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27036855 |
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NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:31175967 |
RGD:25671414 |
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
IEP ISO |
protein:increased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18952117 PMID:19404342 PMID:14606109 |
RGD:4892244, RGD:1626302 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23391614 |
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
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NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Dgat2 |
diacylglycerol O-acyltransferase 2 |
treatment |
IMP |
|
RGD |
PMID:17526931 |
RGD:10400884 |
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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G |
Dhrs7 |
dehydrogenase/reductase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr 6:91,332,259...91,347,856
Ensembl chr 6:91,251,323...91,347,892
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G |
Epas1 |
endothelial PAS domain protein 1 |
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ISO |
|
RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
F2 |
coagulation factor II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008134 |
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NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F2r |
coagulation factor II (thrombin) receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008134 PMID:21907177 PMID:22841818 |
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NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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G |
Fabp1 |
fatty acid binding protein 1 |
|
ISO |
Western diet-induced hepatic steatosis |
RGD |
PMID:17058218 |
RGD:1626440 |
NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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G |
Fgf21 |
fibroblast growth factor 21 |
severity |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:24184811 PMID:32195457 |
RGD:25330354 |
NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
severity |
ISO |
|
RGD |
PMID:32195457 |
RGD:25330354 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fis1 |
fission, mitochondrial 1 |
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IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:24663492 |
RGD:12453042 |
NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
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G |
Foxa1 |
forkhead box A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
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NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:29534506 |
RGD:14695544 |
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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G |
Gck |
glucokinase |
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IDA ISO |
associated with Hyperglycemia |
RGD |
PMID:22925001 PMID:22925001 |
RGD:7488945, RGD:7488945 |
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
|
RGD |
PMID:19670414 |
RGD:14747016 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
Gpd1l |
glycerol-3-phosphate dehydrogenase 1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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G |
Gpt |
glutamic--pyruvic transaminase |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
CTD RGD |
PMID:19481104 PMID:30185098 |
RGD:14975167 |
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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G |
Gpt2 |
glutamic--pyruvic transaminase 2 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:15122758 |
RGD:14975241 |
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10860543 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gpx4 |
glutathione peroxidase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26042203 |
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NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
ISO |
DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 |
RGD |
PMID:7846063 |
RGD:1599882 |
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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G |
Hadhb |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17116638 |
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NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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G |
Has3 |
hyaluronan synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27042213 |
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NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
Non-alcoholic steatohepatitis (NASH) non-alcoholic fatty liver disease |
RGD |
PMID:12105842 PMID:11473047 |
RGD:1601460, RGD:1601452 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hhex |
hematopoietically expressed homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
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NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042
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G |
Hm13 |
histocompatibility minor 13 |
|
ISO |
associated with hepatitis |
RGD |
PMID:27142248 |
RGD:40924634 |
NCBI chr 3:141,145,769...141,184,703
Ensembl chr 3:141,145,782...141,184,703
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G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
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IEP |
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: |
RGD |
PMID:23647685 |
RGD:11354957 |
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISS |
OMIM:228100 |
MouseDO |
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il10 |
interleukin 10 |
|
IEP |
associated with Diabetes Mellitus |
RGD |
PMID:18267346 |
RGD:2308948 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
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IMP |
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RGD |
PMID:18802068 |
RGD:4145478 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il18 |
interleukin 18 |
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IDA |
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RGD |
PMID:19084941 |
RGD:4889416 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
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IEP |
protein:increased expression:serum |
RGD |
PMID:17436085 |
RGD:1626661 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il6 |
interleukin 6 |
|
ISO IAGP |
associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat) |
RGD |
PMID:19205029 PMID:19076162 |
RGD:2307258, RGD:2307264 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Ins2 |
insulin 2 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9048448 PMID:18713300 |
RGD:2311137 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Insig1 |
insulin induced gene 1 |
severity |
ISO IEP |
associated with Obesity associated with Obesity;mRNA:increased expression:liver |
RGD |
PMID:15096598 PMID:15096598 |
RGD:2308857, RGD:2308857 |
NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952
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G |
Insig2 |
insulin induced gene 2 |
severity |
ISO |
associated with Obesity |
RGD |
PMID:15096598 |
RGD:2308857 |
NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923
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G |
Insr |
insulin receptor |
treatment |
IEP IMP |
associated with obesity;human gene in mouse model protein:decreased phosphorylation: liver (rat) |
RGD |
PMID:25160038 PMID:30642871 PMID:22546076 |
RGD:14700926, RGD:14701028, RGD:14700935 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Jak2 |
Janus kinase 2 |
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ISO |
|
RGD |
PMID:22275361 |
RGD:6483019 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
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ISO |
|
RGD |
PMID:22367278 |
RGD:6893372 |
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Ldlr |
low density lipoprotein receptor |
|
ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25554529 PMID:29459263 |
RGD:13703129 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
Ldlrem1Dlli |
low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli |
|
IMP |
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RGD |
PMID:29459263 |
RGD:13703129 |
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G |
Lep |
leptin |
severity |
IEP ISO |
associated with morbid obesity;protein:decreased exprssion:serum (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12661780 PMID:19716478 PMID:23839791 PMID:24525044 PMID:25554529 PMID:27071101 PMID:27712037 PMID:28281237 More...
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RGD:21201250 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25367288 PMID:29743445 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lgals3 |
galectin 3 |
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ISS |
OMIM:228100 |
MouseDO |
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NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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G |
Lrp6 |
LDL receptor related protein 6 |
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ISS |
OMIM:228100 |
MouseDO |
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NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
ameliorates |
ISO |
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RGD |
PMID:26560698 |
RGD:11342977 |
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
|
RGD |
PMID:21540183 |
RGD:9585751 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mat1a |
methionine adenosyltransferase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12060674 |
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NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
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G |
Mc4r |
melanocortin 4 receptor |
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ISS |
OMIM:228100 |
MouseDO |
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NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32045588 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mfn2 |
mitofusin 2 |
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IEP |
protein:decreased expression:liver (rat) |
RGD |
PMID:24663492 |
RGD:12453042 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mir10b |
microRNA 10b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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G |
Mir125a |
microRNA 125a |
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ISO |
|
RGD |
PMID:31988048 |
RGD:21403676 |
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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G |
Mir134 |
microRNA 134 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 6:128,748,908...128,748,980
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G |
Mir139 |
microRNA 139 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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G |
Mir148b |
microRNA 148b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 7:134,421,398...134,421,494
Ensembl chr 7:134,421,398...134,421,494
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G |
Mir150 |
microRNA 150 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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G |
Mir154 |
microRNA 154 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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G |
Mir17 |
microRNA 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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G |
Mir183 |
microRNA 183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
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G |
Mir219a1 |
microRNA 219a-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
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G |
Mir22 |
microRNA 22 |
severity |
ISO |
|
RGD |
PMID:32195457 PMID:32195457 |
RGD:25330354, RGD:25330354 |
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
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G |
Mir224 |
microRNA 224 |
|
IEP |
associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) |
RGD |
PMID:25386083 |
RGD:18182925 |
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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G |
Mir320a |
microRNA 320a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30125006 |
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NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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G |
Mir34a |
microRNA 34a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23834033 |
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NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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G |
Mir410 |
microRNA 410 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
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G |
Mir449c |
microRNA 449c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr 2:44,669,179...44,669,277
Ensembl chr 2:44,669,179...44,669,277
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G |
Mir503 |
microRNA 503 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373
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G |
Mir542 |
microRNA 542 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
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NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:15834927 |
RGD:1580580 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mttp |
microsomal triglyceride transfer protein |
|
ISO |
associated with Hepatitis C;mRNA:decreased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17303181 PMID:16697730 |
RGD:1625483 |
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24210820 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Neil1 |
nei-like DNA glycosylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16446448 PMID:21285402 |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28555106 PMID:22367278 |
RGD:6893372 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
|
IDA |
|
RGD |
PMID:21643627 |
RGD:5135028 |
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
IEP |
protein:increased activity:liver |
RGD |
PMID:17721935 |
RGD:5133249 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
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NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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G |
Nr1d1 |
nuclear receptor subfamily 1, group D, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
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NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23651738 |
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NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism knockout eliminates treatment effectiveness |
CTD RGD |
PMID:29142166 PMID:12971955 PMID:23104131 |
RGD:15045573, RGD:14696795 |
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25182422 |
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NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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G |
Nrep |
neuronal regeneration related protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr18:25,017,069...25,046,564
Ensembl chr18:25,017,083...25,046,591
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G |
Nus1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:33812996 |
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NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:24663492 |
RGD:12453042 |
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Otc |
ornithine transcarbamylase |
|
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:18823438 |
RGD:4144061 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
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RGD |
PMID:21756965 |
RGD:25440484 |
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Plau |
plasminogen activator, urokinase |
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ISS |
OMIM:228100 |
MouseDO |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Plin2 |
perilipin 2 |
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ISO |
associated with Obesity CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16439473 PMID:17484887 |
RGD:1625752 |
NCBI chr 5:101,156,643...101,211,738
Ensembl chr 5:101,154,411...101,242,319
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G |
Pnpla3 |
patatin-like phospholipase domain containing 3 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) |
CTD RGD |
PMID:25678388 PMID:25284145 PMID:25678388 PMID:21319195 PMID:23564580 |
RGD:14981590, RGD:11055420, RGD:14981585, RGD:14981583 |
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:167377 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Pon1 |
paraoxonase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26945512 |
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NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO IEP |
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:19124612 PMID:21929649 PMID:16393287 |
RGD:5509939, RGD:15042851 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ppard |
peroxisome proliferator-activated receptor delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23851158 |
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NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
IEP |
|
RGD |
PMID:15112352 |
RGD:1580685 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
treatment |
IDA IEP ISO |
protein:decreased methylation:liver (rat) |
RGD |
PMID:23274094 PMID:22521344 PMID:23174781 |
RGD:7241844, RGD:7242179, RGD:7242012 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
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ISO |
|
RGD |
PMID:19162361 |
RGD:6484544 |
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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G |
Prkcd |
protein kinase C, delta |
|
ISO |
|
RGD |
PMID:17596878 |
RGD:1642523 |
NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
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G |
Psma5 |
proteasome 20S subunit alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
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G |
Pten |
phosphatase and tensin homolog |
|
IEP ISO |
protein:decreased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27022031 PMID:18166358 PMID:15199412 |
RGD:2292522, RGD:1302555 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IMP |
mRNA,protein:increased expression:liver |
RGD |
PMID:21643627 |
RGD:5135028 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Ptma |
prothymosin alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15885234 |
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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 |
Rela |
RELA proto-oncogene, NF-kB subunit |
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IDA |
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RGD |
PMID:21643627 |
RGD:5135028 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26769846 |
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NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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G |
Scd |
stearoyl-CoA desaturase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21661758 |
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NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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G |
Serpina6 |
serpin family A member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18641190 PMID:29684222 |
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NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Shc1 |
SHC adaptor protein 1 |
|
ISO |
associated with Obesity |
RGD |
PMID:17596878 |
RGD:1642523 |
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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G |
Sirt1 |
sirtuin 1 |
|
ISO |
associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 PMID:21540183 More...
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RGD:9585751 |
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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G |
Sirt6 |
sirtuin 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28536482 |
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NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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G |
Sirt7 |
sirtuin 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24210820 |
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NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26303333 |
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NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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G |
Slc22a8 |
solute carrier family 22 member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
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NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
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G |
Slc27a4 |
solute carrier family 27 member 4 |
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IEP |
mRNA, protein:increased expression |
RGD |
PMID:16248953 |
RGD:1625640 |
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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G |
Slc2a2 |
solute carrier family 2 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12048068 |
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NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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G |
Slco1a4 |
solute carrier organic anion transporter family, member 1a4 |
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IEP |
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RGD |
PMID:16139386 |
RGD:1598602 |
NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
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G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
associated with Obesity |
RGD |
PMID:15240880 |
RGD:1625677 |
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
ISO |
associated with Obesity |
RGD |
PMID:15240880 |
RGD:1625677 |
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27349771 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10860543 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
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NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Stat4 |
signal transducer and activator of transcription 4 |
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ISO |
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RGD |
PMID:16799967 |
RGD:25671424 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Sts |
steroid sulfatase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24497646 |
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NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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G |
Suox |
sulfite oxidase |
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IEP |
protein:decreased expression:liver |
RGD |
PMID:15144217 |
RGD:1600114 |
NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
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G |
Tf |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008134 PMID:21907177 |
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NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18641190 PMID:27022031 |
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NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348005 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Txn1 |
thioredoxin 1 |
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IEP |
|
RGD |
PMID:18578693 |
RGD:2306156 |
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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G |
Ucp2 |
uncoupling protein 2 |
|
IEP ISO |
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10860543 PMID:21114362 |
RGD:7204423 |
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Vdr |
vitamin D receptor |
|
ISO |
|
RGD |
PMID:30905785 PMID:30905785 |
RGD:14402029, RGD:14402029 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Xbp1 |
X-box binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24097666 |
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NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Ace |
angiotensin I converting enzyme |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12359135 |
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NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Chit1 |
chitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17464953 |
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NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592
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G |
Elp1 |
elongator acetyltransferase complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease |
ClinVar |
|
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NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis CTD Direct Evidence: marker/mechanism DNA:mutations:cds, intron:multiple (human) DNA:missense mutations, deletion:cds:multiple (human) |
ClinVar CTD RGD |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7500895 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8547070 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9101438 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11406344 PMID:11600137 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12000368 PMID:12204005 PMID:12359135 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12667990 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14509164 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15943874 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16199547 PMID:16293621 PMID:16326120 PMID:16329099 PMID:16546416 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17803231 PMID:17875915 PMID:18022370 PMID:18030725 PMID:18078074 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19459886 PMID:19513999 PMID:19527940 PMID:19790257 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20005137 PMID:20301446 PMID:20425034 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21250698 PMID:21257328 PMID:21370884 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21823541 PMID:21831682 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22247978 PMID:22344629 PMID:22350617 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 PMID:22812582 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23056756 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23430949 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:23936319 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24313877 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25637381 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26008600 PMID:26027833 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26296077 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008195 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27571329 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27790088 PMID:27802905 PMID:27816428 PMID:27825739 PMID:27836528 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27896091 PMID:27922757 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29656334 PMID:29685539 PMID:29784561 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30461613 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30573413 PMID:30606667 PMID:30609409 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31662221 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32623306 PMID:32658388 PMID:32677286 PMID:32707456 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33547828 PMID:33570220 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34072005 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34280392 PMID:34426522 PMID:34649574 PMID:84325327 PMID:21112800 PMID:17059888 PMID:18586596 PMID:21252206 More...
|
RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431 |
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Il4 |
interleukin 4 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:21223590 |
RGD:5128511 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
|
|
G |
Pklr |
pyruvate kinase L/R |
|
ISO |
DNA:repeats:intron:IVS11+?(ATT)5 (human) |
RGD |
PMID:9677056 |
RGD:11535995 |
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
|
|
G |
Smpd1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
|
|
G |
Snca |
synuclein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19576930 |
|
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
|
|
G |
Tnf |
tumor necrosis factor |
severity |
ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:15919211 |
RGD:12904037 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
|
G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal |
OMIM ClinVar |
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10352942 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10796875 PMID:11148530 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15214004 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16293621 PMID:16546416 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19459886 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20005137 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22375149 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
|
|
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
|
G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease type I |
OMIM ClinVar |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10340647 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11406344 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15943874 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16199547 PMID:16293621 PMID:16329099 PMID:16546416 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18030725 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19459886 PMID:19513999 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20005137 PMID:20301446 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21823541 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22234757 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22493294 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22961873 PMID:22964618 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23056756 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23508695 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24313877 PMID:24434810 PMID:24482953 PMID:24513544 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27816428 PMID:27825739 PMID:27836528 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27896091 PMID:27922757 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28580830 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31943857 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32707456 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:34280392 PMID:34426522 PMID:34649574 PMID:84325327 More...
|
|
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Msh6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease type I |
ClinVar |
PMID:22493294 |
|
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
|
|
|
G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type |
OMIM ClinVar |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24756352 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26117366 PMID:26689913 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:34426522 PMID:34649574 More...
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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|
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G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type |
OMIM ClinVar |
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8929950 PMID:9040001 PMID:9279145 PMID:9375849 PMID:9554746 PMID:9556036 PMID:9650766 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20301446 PMID:20432762 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22387070 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26709268 PMID:26743617 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
OMIM ClinVar |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12482401 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16061944 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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G |
Chpt1 |
choline phosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy |
ClinVar |
PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 PMID:27662472 PMID:28492532 More...
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NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
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G |
Gnptab |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy |
ClinVar |
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31934135 More...
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NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
mucolipidosis IIIC |
RGD |
PMID:10712439 |
RGD:1599045 |
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
|
RGD |
PMID:10973263 |
RGD:1599926 |
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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G |
Neu1 |
neuraminidase 1 |
|
ISS ISO |
OMIM:256550 ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis |
MouseDO ClinVar |
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25741868 PMID:28492532 PMID:30941624 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33502066 PMID:35036219 More...
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NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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G |
Glb1 |
galactosidase, beta 1 |
treatment |
ISO |
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
ClinVar CTD RGD |
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17664528 PMID:18524657 PMID:19472408 PMID:20175788 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29352662 PMID:29396849 PMID:29439846 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30555092 PMID:30809705 PMID:31761138 PMID:31776384 PMID:34426522 PMID:10737981 PMID:25964428 PMID:17309651 More...
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RGD:1598983, RGD:11086251, RGD:12910453 |
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Tmppe |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis |
ClinVar |
PMID:16941474 PMID:25741868 PMID:28492532 |
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NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis |
OMIM ClinVar |
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24767253 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26646981 PMID:27619815 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29439846 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30809705 PMID:31761138 PMID:31776384 PMID:32219518 PMID:33737400 More...
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Tmppe |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 More...
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NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 2 |
OMIM ClinVar |
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10744681 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17661814 PMID:17664528 PMID:18524657 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23757202 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24767253 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:27750150 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29352662 PMID:29439846 PMID:29451896 PMID:30138938 PMID:30267299 PMID:30442161 PMID:30548430 PMID:30675867 PMID:30809705 PMID:31761138 PMID:31776384 PMID:33737400 PMID:34426522 More...
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Tmppe |
transmembrane protein with metallophosphoesterase domain |
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ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 2 |
ClinVar |
PMID:16199547 PMID:16941474 PMID:18524657 PMID:25741868 PMID:28492532 |
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NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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G |
Glb1 |
galactosidase, beta 1 |
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ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis |
OMIM ClinVar |
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8652017 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:11504597 PMID:11511921 PMID:12644936 PMID:15714521 PMID:15906092 PMID:16617000 PMID:16626397 PMID:16941474 PMID:17309651 PMID:17576681 PMID:17664528 PMID:19472408 PMID:19644515 PMID:20175788 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:23337983 PMID:23430499 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:26646981 PMID:28492532 PMID:28554332 PMID:28716012 PMID:29160035 PMID:29439846 PMID:30267299 PMID:31761138 PMID:31776384 More...
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Tmppe |
transmembrane protein with metallophosphoesterase domain |
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ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 3 |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 More...
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NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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G |
Gm2a |
ganglioside GM2 activator |
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ISO |
Tay-Sachs Disease, AB Variant |
RGD |
PMID:10364519 |
RGD:1598993 |
NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
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G |
Hexa |
hexosaminidase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset |
ClinVar |
PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 PMID:6236221 PMID:8328462 PMID:8343225 PMID:8490625 PMID:9090523 PMID:9536098 PMID:10852376 PMID:14724290 PMID:15714079 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22975760 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 PMID:31367523 More...
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NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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G |
Snca |
synuclein alpha |
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ISO |
protein:increased expression:brain |
RGD |
PMID:12657883 |
RGD:6480199 |
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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G |
Sncb |
synuclein, beta |
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ISO |
protein:increased expression:brain |
RGD |
PMID:12657883 |
RGD:6480199 |
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Gm2a |
ganglioside GM2 activator |
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ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB |
OMIM ClinVar |
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 PMID:10364519 PMID:24767253 PMID:25558065 PMID:25741868 PMID:26082327 PMID:26203402 PMID:28417072 PMID:28492532 More...
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NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
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G |
Hexa |
hexosaminidase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB |
ClinVar |
PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 PMID:2824459 PMID:2848800 PMID:8230592 PMID:8352284 PMID:8488832 PMID:8490625 PMID:10571007 PMID:11463833 PMID:14727180 PMID:16088929 PMID:16352452 PMID:18358410 PMID:20301397 PMID:20672374 PMID:21228398 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23852624 PMID:24033266 PMID:24374108 PMID:24518553 PMID:24940364 PMID:25287655 PMID:25557439 PMID:25741868 PMID:27033294 PMID:27896118 PMID:27959697 PMID:28492532 PMID:28503624 More...
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NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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G |
Hexa |
hexosaminidase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset |
ClinVar |
PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 PMID:6236221 PMID:8328462 PMID:8343225 PMID:8490625 PMID:9536098 PMID:10852376 PMID:14566483 PMID:15714079 PMID:16088929 PMID:17015493 PMID:17237499 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22789865 PMID:22975760 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 More...
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NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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G |
Hexa |
hexosaminidase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 |
ClinVar |
PMID:1532289 |
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NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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G |
Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis |
ClinVar |
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:33116287 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Galc |
galactosylceramidase |
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ISO |
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
OMIM ClinVar RGD |
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:9536098 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16199547 PMID:16607461 PMID:16759875 PMID:17576681 PMID:17579360 PMID:18846620 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24388568 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25640679 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26223439 PMID:26396125 PMID:26539891 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27171547 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27617109 PMID:27638583 PMID:27638592 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31093932 PMID:31185936 PMID:31240153 PMID:31319225 PMID:31350907 PMID:31400137 PMID:31885218 PMID:32036093 PMID:32089546 PMID:32576985 PMID:32860008 PMID:32912261 PMID:33178108 PMID:34012265 PMID:34065072 PMID:2120388 More...
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RGD:38599167 |
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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G |
Psap |
prosaposin |
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ISS ISO |
OMIM:245200 ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
MouseDO ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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G |
Lipa |
lipase A, lysosomal acid type |
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ISO |
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency |
OMIM ClinVar |
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16255772 PMID:17576681 PMID:18775687 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24033266 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25525159 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:32382506 More...
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NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
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G |
Adm2 |
adrenomedullin 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
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G |
Arsa |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe |
ClinVar OMIM RGD |
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2299327 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7635478 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9536098 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:9888390 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17438611 PMID:17560502 PMID:17576681 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21080229 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22854541 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:24001781 PMID:24033266 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28296894 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28749476 PMID:28762252 PMID:28923328 PMID:29379168 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29961769 PMID:29966168 PMID:30026549 PMID:30052522 PMID:30057904 PMID:30293248 PMID:31186049 PMID:31694723 PMID:31967741 PMID:31969187 PMID:31980526 PMID:32113700 PMID:32617873 PMID:32632536 PMID:32860008 PMID:33046606 PMID:33138774 PMID:33335837 PMID:33385934 PMID:33855715 PMID:34554397 PMID:15375602 PMID:15026521 More...
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RGD:1358435, RGD:1358434 |
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G |
Arsb |
arylsulfatase B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 More...
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NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Chkb |
choline kinase beta |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
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G |
Cpt1b |
carnitine palmitoyltransferase 1B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 More...
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NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Klhdc7b |
kelch domain containing 7B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
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G |
Lmf2 |
lipase maturation factor 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
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G |
Mal |
mal, T-cell differentiation protein |
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ISO |
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RGD |
PMID:15193296 |
RGD:1358761 |
NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136
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G |
Mapk8ip2 |
mitogen-activated protein kinase 8 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
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G |
Miox |
myo-inositol oxygenase |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
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G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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G |
Odf3b |
outer dense fiber of sperm tails 3B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
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G |
Psap |
prosaposin |
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ISS ISO |
OMIM:249900 | OMIM:250100 ClinVar Annotator: match by term: Metachromatic leukodystrophy |
MouseDO ClinVar |
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 PMID:18429043 PMID:18693274 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Sbf1 |
SET binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Scp2 |
sterol carrier protein 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:25741868 |
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NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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Syce3 |
synaptonemal complex central element protein 3 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Cdc42 |
cell division cycle 42 |
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ISS |
OMIM:251850 |
MouseDO |
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NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Myo5b |
myosin Vb |
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ISO |
ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:29266534 PMID:32304554 PMID:33525641 More...
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NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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Gnptab |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis |
ClinVar |
PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:19197337 PMID:19617216 PMID:19634183 PMID:20301728 PMID:21416587 PMID:21549105 PMID:22495880 PMID:22570975 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24375680 PMID:24798265 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:27662472 PMID:28095893 PMID:28396763 PMID:28492532 PMID:29704188 PMID:29872134 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31130284 PMID:31579991 PMID:31934135 PMID:32651481 More...
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NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mucolipidosis |
CTD ClinVar |
PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:15523648 PMID:16287144 PMID:16645217 PMID:17384215 PMID:19815695 PMID:20864526 PMID:21613607 PMID:23555759 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Gnptab |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis type II |
OMIM ClinVar |
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20301730 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:22495880 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24060719 PMID:24375680 PMID:24550498 PMID:24767253 PMID:24798265 PMID:24807205 PMID:25107912 PMID:25473036 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26274329 PMID:26633542 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29140481 PMID:29704188 PMID:29872134 PMID:29966168 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31003007 PMID:31130284 PMID:31319225 PMID:31405983 PMID:31579991 PMID:31934135 PMID:32014045 PMID:32651481 PMID:32860008 PMID:34008892 More...
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NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptab |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical |
ClinVar |
PMID:15633164 PMID:28492532 |
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NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptab |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy |
OMIM ClinVar |
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31934135 More...
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NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis type III gamma |
OMIM ClinVar |
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27884173 PMID:27896079 PMID:28492532 PMID:28950892 PMID:29170090 PMID:29704188 PMID:30507725 More...
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Unkl |
unk like zinc finger |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis type III gamma |
ClinVar |
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NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
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Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
OMIM ClinVar |
PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:12125810 PMID:12182165 PMID:14749347 PMID:15178326 PMID:15523648 PMID:16199547 PMID:16257972 PMID:16287144 PMID:16645217 PMID:16978393 PMID:17239335 PMID:17306511 PMID:17384215 PMID:17576681 PMID:18326692 PMID:18794901 PMID:19815695 PMID:20159435 PMID:21228398 PMID:21763169 PMID:22268962 PMID:22281206 PMID:23555759 PMID:24033266 PMID:25119295 PMID:25465891 PMID:25741868 PMID:25933391 PMID:26467025 PMID:28112729 PMID:28492532 PMID:28604674 PMID:28936784 PMID:29019983 PMID:30120981 PMID:31578829 PMID:31618753 PMID:31899079 PMID:32214227 PMID:32860008 PMID:33454187 More...
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Sumf1 |
sulfatase modifying factor 1 |
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ISS |
OMIM:272200 |
MouseDO |
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NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708
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Sumf2 |
sulfatase modifying factor 2 |
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ISO |
ClinVar Annotator: match by term: Multiple sulfatase deficiency |
ClinVar |
PMID:12757706 |
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NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
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Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: ML I | ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I |
OMIM ClinVar |
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14695530 PMID:15908988 PMID:16538002 PMID:17576681 PMID:19415310 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25741868 PMID:28492532 PMID:30941624 PMID:32453490 PMID:32472645 PMID:32485644 PMID:33502066 PMID:35036219 More...
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NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Abhd16b |
abhydrolase domain containing 16B |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
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Adrm1 |
ADRM1 26S proteasome ubiquitin receptor |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
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Ap2a2 |
adaptor related protein complex 2 subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
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Apbb1 |
amyloid beta precursor protein binding family B member 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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Apobr |
apolipoprotein B receptor |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
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NCBI chr 1:181,168,982...181,173,528
Ensembl chr 1:181,168,916...181,173,528
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Arfgap1 |
ADP-ribosylation factor GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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Arfip2 |
ADP-ribosylation factor interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,974,255...159,980,398
Ensembl chr 1:159,974,201...159,980,336
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Arfrp1 |
ADP-ribosylation factor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
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Arhgef10 |
Rho guanine nucleotide exchange factor 10 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:15024724 PMID:28116333 PMID:28492532 |
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NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173
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Arsg |
arylsulfatase G |
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ISO |
Lysosomal storage disease, ARSG related |
OMIA |
PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 PMID:20679209 PMID:22689975 PMID:23338040 PMID:24069350 PMID:25135642 PMID:25452429 PMID:27778018 PMID:28860089 PMID:32219101 More...
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NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941
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Ascl2 |
achaete-scute family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406
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Atp13a2 |
ATPase cation transporting 13A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22022275 PMID:22847264 |
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NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
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NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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Atxn2l |
ataxin 2-like |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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Bhlhe23 |
basic helix-loop-helix family, member e23 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
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Birc7 |
baculoviral IAP repeat-containing 7 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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G |
Brsk2 |
BR serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,035,522...197,088,624
Ensembl chr 1:197,035,633...197,088,092
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G |
C1h11orf42 |
similar to human chromosome 11 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,722,255...159,725,863
Ensembl chr 1:159,718,679...159,725,904
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G |
Cables2 |
Cdk5 and Abl enzyme substrate 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
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G |
Cavin3 |
caveolae associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,826,549...159,828,138
Ensembl chr 1:159,826,549...159,828,161
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G |
Cckbr |
cholecystokinin B receptor |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,771,733...159,781,738
Ensembl chr 1:159,771,733...159,814,881
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G |
Cd151 |
CD151 molecule (Raph blood group) |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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G |
Cd19 |
CD19 molecule |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cd81 |
Cd81 molecule |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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G |
Cdhr5 |
cadherin-related family member 5 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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G |
Chid1 |
chitinase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Clcn3 |
chloride voltage-gated channel 3 |
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ISO |
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RGD |
PMID:12059962 |
RGD:734783 |
NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
CTD ClinVar |
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23142271 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32631363 PMID:32685355 PMID:33497524 PMID:33507216 More...
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NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11727201 PMID:11971870 PMID:12134079 PMID:12673792 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16385454 PMID:16814585 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301500 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25525159 PMID:25640679 PMID:25677497 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27553520 PMID:27884173 PMID:28492532 PMID:28542837 PMID:29482223 PMID:29655203 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30655561 PMID:30919163 PMID:31105743 PMID:31130284 PMID:32005694 PMID:32393339 PMID:32983231 PMID:34906502 More...
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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Cln6 |
CLN6, transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis DNA:mutations: : CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:16199547 PMID:17046213 PMID:17988881 PMID:18684116 PMID:18846690 PMID:19135028 PMID:20301601 PMID:21359198 PMID:21549341 PMID:21990111 PMID:22883287 PMID:23789114 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31489614 PMID:31741823 PMID:32171521 PMID:11791207 PMID:21549341 PMID:11791207 More...
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RGD:1358512, RGD:11064442, RGD:1358512 |
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Cln8 |
CLN8, transmembrane ER and ERGIC protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
CTD ClinVar |
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:18414213 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 PMID:22302580 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31741823 More...
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NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Cnga4 |
cyclic nucleotide gated channel subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,752,357...159,756,369
Ensembl chr 1:159,752,357...159,756,375
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Col20a1 |
collagen type XX alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
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Col9a3 |
collagen type IX alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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Cracr2b |
calcium release activated channel regulator 2B |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771
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Ctsd |
cathepsin D |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:17576681 PMID:18762956 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26059544 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:33681191 More...
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NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Ctsf |
cathepsin F |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
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NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
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Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Dido1 |
death inducer-obliterator 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25741868 PMID:25921748 PMID:26467025 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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Dnhd1 |
dynein heavy chain domain 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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Drd4 |
dopamine receptor D4 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Dusp8 |
dual specificity phosphatase 8 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921
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Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:20157158 PMID:28492532 PMID:32393339 |
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Eif3c |
eukaryotic translation initiation factor 3, subunit C |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
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NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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Eps8l2 |
EPS8-like 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,446,067...196,471,542
Ensembl chr 1:196,446,287...196,471,541
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Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:20157158 PMID:28492532 PMID:32393339 |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Fhip1b |
FHF complex subunit HOOK interacting protein 1B |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:159,718,679...159,748,449
Ensembl chr 1:159,726,004...159,748,408
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Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gata5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gatd1 |
glutamine amidotransferase class 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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Gid8 |
GID complex subunit 8 homolog |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
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Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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H19 |
H19 imprinted maternally expressed transcript |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Helz2 |
helicase with zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Hpx |
hemopexin |
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ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMI | |