RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: lipid storage disease
Accession: DOID:9455
browse the term
Definition: A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)
Synonyms: exact_synonym: Lipidoses; Lipidosis; Lipoidosis; inborn lipid storage disorder; lipoid storage diseas; steatosis
primary_id: MESH:D008064
xref: EFO:0008527 ; ICD10CM:E75.6 ; ICD9CM:272.7 ; ICD9CM:272.8
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Ap1s1
adaptor related protein complex 1 subunit sigma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
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)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21123845
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hpn
hepsin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
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Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21123845
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21123845
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina3n
serpin family A member 3N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Slc2a3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
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
IEP
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
IEP
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
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
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
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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Adra2a
adrenoceptor alpha 2A
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:28987868
RGD:407574728
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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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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Ar
androgen receptor
severity
IEP
RGD
PMID:11447013
RGD:407424619
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Arrb2
arrestin, beta 2
ameliorates
ISO
protein:increased expression:hepatocyte
RGD
PMID:33871024 PMID:33871024
RGD:401938594 , RGD:401938594
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Atg7
autophagy related 7
exacerbates ameliorates
ISO
RGD
PMID:31235522 PMID:34303881
RGD:407445921 , RGD:407445922
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Birc3
baculoviral IAP repeat-containing 3
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:25557254 PMID:30611703
RGD:14995489 , RGD:407424594
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
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
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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Cd14
CD14 molecule
treatment
IEP
RGD
PMID:23277536
RGD:407424596
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd36
CD36 molecule
ISO
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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Cd68
Cd68 molecule
treatment
IEP
RGD
PMID:23277536 PMID:29399060
RGD:407424596 , RGD:407424599
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Crp
C-reactive protein
IEP
protein:increased expression:serum:
RGD
PMID:21806828
RGD:9491781
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ctsb
cathepsin B
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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Cxcl1
C-X-C motif chemokine ligand 1
ameliorates
ISO
RGD
PMID:33710653
RGD:401976495
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
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
ISO
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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Fkbp5
FKBP prolyl isomerase 5
ameliorates
ISO
mRNA,protein:incrased expression:liver (human)
RGD
PMID:33710653
RGD:401976495
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Foxo1
forkhead box O1
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Hamp
hepcidin antimicrobial peptide
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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Lbp
lipopolysaccharide binding protein
treatment
IEP
RGD
PMID:23277536
RGD:407424596
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
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Ldlr
low density lipoprotein receptor
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
ISO
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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Nlrc5
NLR family, CARD domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36708882
NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
treatment
IMP
RGD
PMID:26256083
RGD:11522097
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Ocln
occludin
treatment
IEP
RGD
PMID:31116255
RGD:407424600
NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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Pemt
phosphatidylethanolamine N-methyltransferase
IEP
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18703563
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Rela
RELA proto-oncogene, NF-kB subunit
treatment
IEP
RGD
PMID:29399060 PMID:31116255
RGD:407424599 , RGD:407424600
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Serpine1
serpin family E member 1
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
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19951287
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
IEP
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
IEP
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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Tead1
TEA domain transcription factor 1
ameliorates
ISO
RGD
PMID:33710653
RGD:401976495
NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369
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Tgfb1
transforming growth factor, beta 1
treatment
IEP
RGD
PMID:29399060
RGD:407424599
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tjp1
tight junction protein 1
treatment
IEP
RGD
PMID:23277536
RGD:407424596
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Tlr2
toll-like receptor 2
treatment
IEP
RGD
PMID:23277536
RGD:407424596
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
severity treatment
ISO IEP
RGD
PMID:29884546 PMID:23277536 PMID:21463341
RGD:14697697 , RGD:407424596 , 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:29399060 PMID:20143470
RGD:14995434 , RGD:407424599 , RGD:38508901
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ubd
ubiquitin D
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:25741868
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
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap
prosaposin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency
CTD OMIM ClinVar
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 PMID:9536098 PMID:11309366 PMID:15856305 PMID:15944902 PMID:16199547 PMID:17576681 PMID:17616409 PMID:17919309 PMID:19267410 PMID:20484222 PMID:24033266 PMID:24925315 PMID:25741868 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:34649574 PMID:35456468 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap
prosaposin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency
CTD OMIM ClinVar
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 PMID:28492532 PMID:29995202 PMID:30632081 PMID:31069529 PMID:31319425 PMID:31439510 PMID:32180488 PMID:33219486 More...
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
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:7860076 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8309576 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9008528 PMID:9186905 PMID:9254865 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9654207 PMID:9790667 PMID:10206677 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10741487 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:16372260 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:27680221 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28229379 PMID:28324197 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28749476 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29260356 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31384146 PMID:31450232 PMID:31736580 PMID:31743419 PMID:31796091 PMID:32523054 PMID:32581172 PMID:32714376 PMID:32793533 PMID:33020668 PMID:33313117 PMID:33400472 PMID:33414089 PMID:33520900 PMID:33624863 PMID:33659184 PMID:33830582 PMID:33977023 PMID:34012265 PMID:34103343 PMID:34145886 PMID:34234304 PMID:34689324 PMID:34930075 PMID:35949830 PMID:36537231 PMID:36628393 PMID:2019602 More...
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28590052
NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Abhd5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
ISO ISS
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM:275630 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:545139 PMID:3354610 PMID:6181472 PMID:7362208 PMID:11590543 PMID:14708602 PMID:15136565 PMID:16199547 PMID:18339307 PMID:18682927 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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Ano10
anoctamin 10
ISO
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar
PMID:11590543 PMID:25741868 PMID:28492532
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Cdhr5
cadherin-related family member 5
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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Cend1
cell cycle exit and neuronal differentiation 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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Deaf1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Drd4
dopamine receptor D4
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Eps8l2
EPS8-like 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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Gatd1
glutamine amidotransferase class 1 domain containing 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Irf7
interferon regulatory factor 7
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Lmntd2
lamin tail domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mir210
microRNA 210
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
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Pidd1
p53-induced death domain protein 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:19763152 PMID:20307669 PMID:20370797 PMID:21073837 PMID:21170305 PMID:21544567 PMID:22406018 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25287355 PMID:25363365 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:30738494 PMID:31525260 PMID:32041611 PMID:33569515 PMID:35460704 More...
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Rassf7
Ras association domain family member 7
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
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Rplp2
ribosomal protein lateral stalk subunit P2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
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Sct
secretin
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
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Slc25a22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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Taldo1
transaldolase 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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Tmem80
transmembrane protein 80
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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Clcn6
chloride voltage-gated channel 6
ISO
ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 PMID:38877824 More...
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Cholesteryl ester storage disease CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8894696 PMID:9536098 PMID:9684740 PMID:10562460 PMID:11441129 PMID:16255772 PMID:17576681 PMID:21291321 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:23583223 PMID:24072694 PMID:24295952 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29958253 PMID:30249571 PMID:30684275 PMID:31182375 PMID:31230978 PMID:31392116 PMID:6097111 More...
RGD:1600621
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Tspo
translocator protein
IMP
RGD
PMID:29074640
RGD:150429771
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
G
Tspoem1Vpl
translocator protein; ZFN induced mutant1, Vpl
IMP
RGD
PMID:29074640
RGD:150429771
G
Tspoem2Vpl
translocator protein; ZFN induced mutant2, Vpl
IMP
RGD
PMID:29074640
RGD:150429771
G
Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
G
Chst3
carbohydrate sulfotransferase 3
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
G
Psap
prosaposin
ISO ISS
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency OMIM:611721 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:15944902 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:33402667 PMID:35456468 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
G
Spock2
SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:28,037,334...28,064,272
Ensembl chr20:28,033,475...28,064,272
G
Vsir
V-set immunoregulatory receptor
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
G
Adk
adenosine kinase
ISO
RGD
PMID:11997462
RGD:1300259
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
G
Ace
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:20941593
RGD:12879402
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
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
G
Ar
androgen receptor
treatment
ISO
RGD
PMID:25701874
RGD:11576234
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
G
Galc
galactosylceramidase
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:25741868 PMID:33547378 PMID:37597066
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
G
Gla
galactosidase, alpha
ISO IMP ISS
DNA:point mutation:exon:R356W ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease compared to wild type OMIM:301500 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1677356 PMID:1753437 PMID:1846223 PMID:2152885 PMID:2160973 PMID:2171331 PMID:2539398 PMID:2744760 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7599642 PMID:7759078 PMID:7911050 PMID:7951217 PMID:8012363 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8768754 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9268104 PMID:9395081 PMID:9452068 PMID:9452090 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9620884 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10360396 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11145098 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:12207598 PMID:12359124 PMID:12428061 PMID:12429061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15086478 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15353880 PMID:15492942 PMID:15611419 PMID:15661032 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15861341 PMID:15924232 PMID:15947062 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16224739 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16626582 PMID:16720462 PMID:16754800 PMID:16773563 PMID:16862044 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17437606 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:18472290 PMID:18555667 PMID:18560446 PMID:18565198 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18784903 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19265719 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19343533 PMID:19373884 PMID:19387866 PMID:19419768 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19925601 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:20864368 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21305660 PMID:21333496 PMID:21353612 PMID:21420783 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:22498845 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:23305247 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:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23756194 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:24496231 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24626659 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:24830310 PMID:24980630 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25086909 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25395255 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:25666440 PMID:25677671 PMID:25741868 PMID:25750198 PMID:25762495 PMID:25772321 PMID:25795794 PMID:25835592 PMID:25865499 PMID:25896551 PMID:25900714 PMID:25949379 PMID:25955246 PMID:25965380 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26070511 PMID:26083343 PMID:26179544 PMID:26238931 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:26880903 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:27773586 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27834756 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:28332257 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:28717668 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28771489 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28892806 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29121657 PMID:29132836 PMID:29143201 PMID:29186537 PMID:29203563 PMID:29204651 PMID:29227985 PMID:29247119 PMID:29305833 PMID:29307789 PMID:29326878 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:29688998 PMID:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30085001 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30246259 PMID:30261035 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30497360 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30731207 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30834538 PMID:30853972 PMID:30890379 PMID:30902821 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31028938 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31243236 PMID:31291414 PMID:31319156 PMID:31321922 PMID:31367522 PMID:31372342 PMID:31392112 PMID:31446751 PMID:31449323 PMID:31519519 PMID:31566927 PMID:31613176 PMID:31620600 PMID:31634893 PMID:31649303 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31795557 PMID:31798221 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32127409 PMID:32150461 PMID:32161151 PMID:32198894 PMID:32203225 PMID:32246049 PMID:32246457 PMID:32281532 PMID:32306159 PMID:32418857 PMID:32432376 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32583479 PMID:32699723 PMID:32714835 PMID:32719972 PMID:32789421 PMID:32793709 PMID:32797665 PMID:32802993 PMID:32806660 PMID:32813676 PMID:32843101 PMID:32860008 PMID:32883051 PMID:32901917 PMID:32963035 PMID:32995357 PMID:33016649 PMID:33022387 PMID:33036343 PMID:33040545 PMID:33072983 PMID:33073010 PMID:33163363 PMID:33179747 PMID:33204599 PMID:33301762 PMID:33335842 PMID:33437642 PMID:33495303 PMID:33495597 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33617311 PMID:33663879 PMID:33673806 PMID:33712733 PMID:33807900 PMID:33835496 PMID:33907643 PMID:34199132 PMID:34205365 PMID:34401344 PMID:34545322 PMID:34679477 PMID:34803097 PMID:34905550 PMID:35035949 PMID:35548424 PMID:35743592 PMID:35743707 PMID:35870541 PMID:35971858 PMID:35977816 PMID:36013057 PMID:36087038 PMID:36140787 PMID:36156392 PMID:36292965 PMID:36383556 PMID:36564230 PMID:36709535 PMID:36745055 PMID:36873653 PMID:37205992 PMID:37441486 PMID:37480128 PMID:38002959 PMID:2539398 PMID:29979634 PMID:34320241 PMID:34541380 PMID:29563343 More...
RGD:1601350 , RGD:401976416 , RGD:401976418 , RGD:401976419 , RGD:150429980
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:29563343 PMID:29979634 PMID:34320241 PMID:34541380
RGD:150429980 , RGD:401976416 , RGD:401976418 , RGD:401976419
G
Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:7531540 PMID:10666480 PMID:11889412 PMID:12175777 PMID:15661032 PMID:15776423 PMID:16862044 PMID:17532296 PMID:17555407 PMID:18205205 PMID:19419768 PMID:20022777 PMID:21598360 PMID:21683120 PMID:23691425 PMID:23913314 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25026990 PMID:25040344 PMID:25382311 PMID:25596309 PMID:25741868 PMID:26563328 PMID:27831900 PMID:27979989 PMID:28492532 PMID:30386727 PMID:30594474 PMID:31795557 PMID:33204599 PMID:34803097 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
G
Il1a
interleukin 1 alpha
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
G
Mylk2
myosin light chain kinase 2
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:28492532
NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
G
Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
G
Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
G
Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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
G
Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar
PMID:105759 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:29204651 PMID:29875425 PMID:30380558 PMID:30386727 PMID:30662066 PMID:30731207 PMID:30804731 PMID:30890379 PMID:31028938 PMID:31200018 PMID:31519519 PMID:31798221 PMID:32099817 PMID:32246049 PMID:35743592 PMID:36013057 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Asah1
N-acylsphingosine amidohydrolase 1
ISO ISS
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:228000 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 PMID:11241842 PMID:12638942 PMID:16199547 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:25847462 PMID:26075876 PMID:26467025 PMID:26526000 PMID:26945816 PMID:27411168 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29140481 PMID:29358611 PMID:29379059 PMID:29692406 PMID:30525581 PMID:30815900 PMID:31680123 PMID:32449975 PMID:32627310 PMID:32706452 PMID:32875576 PMID:34240417 More...
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10428046
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar
PMID:11381270 PMID:12016587 PMID:16199547 PMID:20177705 PMID:25741868 PMID:27208204 PMID:27894351 PMID:28492532 More...
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
G
Chit1
chitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17464953
NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592
G
Elp1
elongator acetyltransferase complex subunit 1
ISO
ClinVar Annotator: match by term: Gaucher disease
ClinVar
PMID:28492532
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
G
Gba1
glucosylceramidase beta 1
ISO ISS
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 MouseDO CTD RGD
PMID:1301953 PMID:1333717 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:8829663 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:10206680 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:15352589 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15916907 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:18160322 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19167250 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19383421 PMID:19394250 PMID:19433656 PMID:19433657 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:21796727 PMID:21823541 PMID:21831682 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22118943 PMID:22133539 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:22884962 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23035075 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:23935976 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:25056340 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25356393 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:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26792850 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27007895 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:27334896 PMID:27393345 PMID:27397011 PMID:27470603 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:28580830 PMID:28686011 PMID:28727984 PMID:28749476 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28944235 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:29792872 PMID:29842932 PMID:29934114 PMID:29948939 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30169122 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:30777654 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:31799121 PMID:31816052 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32404250 PMID:32547927 PMID:32613234 PMID:32618053 PMID:32623306 PMID:32658388 PMID:32677286 PMID:32702516 PMID:32707456 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33277783 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33420335 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:34282371 PMID:34426522 PMID:34440436 PMID:34450264 PMID:34586679 PMID:34649574 PMID:34867278 PMID:34888859 PMID:34930372 PMID:35262230 PMID:35639160 PMID:36307859 PMID:36598340 PMID:36609826 PMID:36776904 PMID:36845659 PMID:37009750 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
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar
PMID:22493294
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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
Prx
periaxin
ISO
ClinVar Annotator: match by term: Kerasin thesaurismosis
ClinVar
PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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
Ttn
titin
ISO
ClinVar Annotator: match by term: GBA DEFICIENCY
ClinVar
PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Gba1
glucosylceramidase beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal
CTD ClinVar OMIM
PMID:1333717 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:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15214004 PMID:15352589 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15916907 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:18160322 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19167250 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19383421 PMID:19394250 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:21796727 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22118943 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22350617 PMID:22375149 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22884962 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23035075 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:26792850 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:27397011 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28749476 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28944235 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:29948939 PMID:29980418 PMID:30146349 PMID:30169122 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:30777654 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32404250 PMID:32547927 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33420335 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34073924 PMID:34275192 PMID:34450264 PMID:36598340 PMID:36609826 PMID:37009750 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile
ClinVar
PMID:11381270 PMID:12016587 PMID:16199547 PMID:20177705 PMID:25741868 PMID:27208204 PMID:27894351 PMID:28492532 More...
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
G
Gba1
glucosylceramidase beta 1
ISS ISO
OMIM:230800 ClinVar Annotator: match by term: Gaucher disease type I
MouseDO OMIM ClinVar
PMID:1301953 PMID:1333717 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:15352589 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:19167250 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19383421 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:22350617 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22493294 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 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:23935976 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:26008600 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26792850 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: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:30169122 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: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:31816052 PMID:31943857 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32547927 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32702516 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:34930372 PMID:36609826 PMID:37009750 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, noncerebral juvenile
ClinVar
PMID:22493294
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Thbs3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Gaucher disease type I
ClinVar
PMID:25741868
NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
G
Ttn
titin
ISO
ClinVar Annotator: match by term: GD I
ClinVar
PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Gba1
glucosylceramidase beta 1
ISS ISO
OMIM:230900 ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
MouseDO ClinVar OMIM
PMID:1301953 PMID:1333717 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:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15352589 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17059888 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:19394250 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:21384230 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:22375149 PMID:22388998 PMID:22429443 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:23699752 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:26296077 PMID:26467025 PMID:26689913 PMID:26792850 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 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:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30169122 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:32035846 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:34134921 PMID:34275192 PMID:34426522 PMID:34649574 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Prx
periaxin
ISO
ClinVar Annotator: match by term: Acute cerebral Gaucher disease
ClinVar
PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
G
Gba1
glucosylceramidase beta 1
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:1333717 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:10685993 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:12587096 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15352589 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17059888 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:19394250 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:21384230 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:22375149 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:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26467025 PMID:26709268 PMID:26743617 PMID:26792850 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 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:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30169122 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:32035846 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...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Gba1
glucosylceramidase beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
CTD ClinVar OMIM
PMID:1333717 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:10685993 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12482401 PMID:12587096 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15352589 PMID:15605411 PMID:15826241 PMID:16061944 PMID:16293621 PMID:16967369 PMID:17059888 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:19394250 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:21384230 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:22375149 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:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26467025 PMID:26792850 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 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:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32035846 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
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...
NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
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 Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 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:25741909 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:32651481 PMID:34426522 PMID:34440436 PMID:34645491 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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
G
Mcoln1
mucolipin TRP cation channel 1
ISO
RGD
PMID:10973263
RGD:1599926
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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 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: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis
MouseDO ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:23291686 PMID:23391804 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:29018767 PMID:29414417 PMID:30023283 PMID:30548430 PMID:30941624 PMID:31711734 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34476202 PMID:34992946 PMID:35036219 More...
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
G
Sgcb
sarcoglycan, beta
ISO
ClinVar Annotator: match by term: Sialidosis
ClinVar
PMID:9032047 PMID:28492532 PMID:33250842
NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
G
Glb1
galactosidase, beta 1
treatment
ISO ISS
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GLB1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis CTD Direct Evidence: marker/mechanism DNA:mutations:multiple:
ClinVar MouseDO 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:18353697 PMID:18524657 PMID:19472408 PMID:20175788 PMID:20409738 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:24033266 PMID:24777551 PMID:25326635 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26337817 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28939701 PMID:28976722 PMID:29352662 PMID:29396849 PMID:29439846 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30555092 PMID:30712135 PMID:30809705 PMID:31216405 PMID:31367523 PMID:31497487 PMID:31761138 PMID:31776384 PMID:32036093 PMID:33083013 PMID:33240792 PMID:33258288 PMID:33737400 PMID:34426522 PMID:35614200 PMID:37673932 PMID:10737981 PMID:25964428 PMID:17309651 More...
RGD:1598983 , RGD:11086251 , RGD:12910453
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: GLB1 deficiency
ClinVar
PMID:10961955 PMID:15840476 PMID:16712702 PMID:19716085 PMID:21193062 PMID:22581653 PMID:22721569 PMID:23098067 PMID:23158531 PMID:24709866 PMID:25741868 PMID:26888838 PMID:27041150 PMID:28492532 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
G
Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar
PMID:16941474 PMID:25741868 PMID:28492532
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
G
Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
G
Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis type 1 | 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 ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
OMIM ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:6791574 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:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24767253 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26337817 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28939701 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30712135 PMID:30809705 PMID:31216405 PMID:31497487 PMID:31761138 PMID:31776384 PMID:32036093 PMID:32219518 PMID:33258288 PMID:33737400 PMID:34426522 PMID:36265282 PMID:37673932 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form
ClinVar
PMID:10961955 PMID:15840476 PMID:16712702 PMID:19716085 PMID:21193062 PMID:22581653 PMID:22721569 PMID:23098067 PMID:23158531 PMID:24709866 PMID:25741868 PMID:26888838 PMID:27041150 PMID:28492532 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
G
Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 PMID:36265282 More...
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 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:17576681 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:24767253 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26337817 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:27750150 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28577204 PMID:28716012 PMID:28939701 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:29451896 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30442161 PMID:30548430 PMID:30675867 PMID:30712135 PMID:30809705 PMID:31216405 PMID:31367523 PMID:31497487 PMID:31761138 PMID:31776384 PMID:32036093 PMID:32779865 PMID:33083013 PMID:33240792 PMID:33258288 PMID:33558080 PMID:33737400 PMID:34426522 PMID:35614200 PMID:35937492 PMID:36265282 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
G
Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 PMID:36265282 More...
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
G
Glb1
galactosidase, beta 1
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:8922281 PMID:9203065 PMID:9536098 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:15986423 PMID:16617000 PMID:16626397 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:19472408 PMID:19644515 PMID:20175788 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26337817 PMID:26646981 PMID:26990548 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28939701 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30267299 PMID:31216405 PMID:31497487 PMID:31761138 PMID:31776384 PMID:32036093 PMID:34426522 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
G
Tmppe
transmembrane protein with metallophosphoesterase domain
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...
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
G
Gm2a
ganglioside GM2 activator
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
G
Hexa
hexosaminidase subunit alpha
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:8757036 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...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Snca
synuclein alpha
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
G
Sncb
synuclein, beta
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
G
Gm2a
ganglioside GM2 activator
ISO ISS
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB OMIM:272750 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 PMID:9536098 PMID:10364519 PMID:17576681 PMID:24767253 PMID:25558065 PMID:25741868 PMID:26082327 PMID:26203402 PMID:27402091 PMID:28192816 PMID:28417072 PMID:28492532 PMID:33456446 More...
NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
G
Hexa
hexosaminidase subunit alpha
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 PMID:33083013 PMID:36135330 More...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Slc36a2
solute carrier family 36 member 2
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar
PMID:28492532
NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082
G
Slc36a3
solute carrier family 36, member 3
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar
PMID:28492532
NCBI chr10:39,243,531...39,273,433
Ensembl chr10:39,243,595...39,270,567
G
Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: GM2-gangliosidosis, adult-onset | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult
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:14577003 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...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1
ClinVar
PMID:1532289
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
G
Galc
galactosylceramidase
ISO ISS
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Globoid cell leukoencephalopathy ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell OMIM:245200 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8399327 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:17824908 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:25741915 PMID:25956830 PMID:26108647 PMID:26223439 PMID:26396125 PMID:26539891 PMID:26567009 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:28337550 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28855403 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30729410 PMID:30777126 PMID:31053700 PMID:31093932 PMID:31185936 PMID:31240153 PMID:31319225 PMID:31350907 PMID:31395954 PMID:31400137 PMID:31885218 PMID:32036093 PMID:32064984 PMID:32089546 PMID:32295525 PMID:32342562 PMID:32411386 PMID:32576985 PMID:32677356 PMID:32860008 PMID:32912261 PMID:32973651 PMID:33178108 PMID:33190188 PMID:33547378 PMID:33832819 PMID:34012265 PMID:34065072 PMID:34071213 PMID:34445196 PMID:34449528 PMID:35013804 PMID:35286032 PMID:35419325 PMID:35654103 PMID:36113749 PMID:36380532 PMID:37597066 PMID:2120388 More...
RGD:38599167
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
G
Psap
prosaposin
ISS ISO
OMIM:245200 ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
MouseDO ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Spata7
spermatogenesis associated 7
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:25741868
NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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Lipa
lipase A, lysosomal acid type
ISS ISO
OMIM:278000 ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency
MouseDO ClinVar
PMID:2129132 PMID:3118057 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:16199547 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:28179030 PMID:28220406 PMID:28374935 PMID:28391883 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30270055 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:32041611 PMID:32382506 More...
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Abca1
ATP binding cassette subfamily A member 1
treatment
ISO
RGD
PMID:29505790
RGD:19165131
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acer3
alkaline ceramidase 3
treatment disease_progression
ISO
mRNA:increased expression:liver
RGD
PMID:31949129 PMID:31949129 PMID:31949129
RGD:35673324 , RGD:35673324 , RGD:35673324
NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
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Acta2
actin alpha 2, smooth muscle
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:28100771
RGD:127285675
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adipor2
adiponectin receptor 2
susceptibility treatment
IEP ISO
mRNA:decreased expression:liver (rat) associated with obesity associated with obesity;protein:decreased expression:liver (mouse)
RGD
PMID:20606728 PMID:30131158 PMID:20965162 PMID:18666257 PMID:19763702
RGD:21076282 , RGD:25824942 , RGD:25440494 , RGD:25330095 , RGD:25330094
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adra2a
adrenoceptor alpha 2A
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Apoa1
apolipoprotein A1
treatment
ISO IEP
human gene in mouse model mRNA, protein: increased expression:liver, serum (rat)
RGD
PMID:24793484 PMID:30187493
RGD:21408551 , RGD:25671434
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Atg12
autophagy related 12
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr18:39,452,247...39,462,424
Ensembl chr18:39,452,191...39,462,418
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Atg5
autophagy related 5
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Atg7
autophagy related 7
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
treatment
IEP
associated with type 2 diabetes mellitus;
RGD
PMID:29608898
RGD:153352320
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Birc3
baculoviral IAP repeat-containing 3
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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Bnip3l
BCL2 interacting protein 3 like
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO IEP
RNA:increased expression:liver: mRNA:altered expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:24429361 PMID:24294355 PMID:20606728 PMID:30369082
RGD:14975280 , RGD:407446378 , RGD:21076282 , RGD:14995462
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum:
RGD
PMID:27639593
RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd68
Cd68 molecule
disease_progression severity
IEP ISO
protein:increased expression:liver (rat) protein:increased expression:liver (mouse) protein:decreased expression:liver (human) protein:increased expression:blood serum (human)
RGD
PMID:28951310 PMID:24294355 PMID:31337151 PMID:21635548
RGD:407420265 , RGD:407446378 , RGD:407446377 , RGD:407420270
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cldn1
claudin 1
IEP
mRNA:increased expression:distal colon (rat)
RGD
PMID:31189495
RGD:26884351
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Col1a1
collagen type I alpha 1 chain
ameliorates treatment
ISO IEP
RGD
PMID:28100771 PMID:33315911
RGD:127285675 , RGD:407420266
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpt1a
carnitine palmitoyltransferase 1A
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
mRNA,protein:increased expression:liver,serum
RGD
PMID:25048951 PMID:25048951
RGD:27095890 , RGD:27095890
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28774887
RGD:15045601
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
ISO IEP
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:28774887 PMID:30038487
RGD:15045601 , RGD:15092090
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Gpbar1
G protein-coupled bile acid receptor 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Hspa5
heat shock protein family A (Hsp70) member 5
disease_progression
IEP
mRNA,protein:increased expression:liver (rat)
RGD
PMID:28951310
RGD:407420265
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:blood serum (human)
RGD
PMID:21635548
RGD:407420270
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ameliorates
ISO
RGD
PMID:28415887
RGD:14985253
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng
interferon gamma
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082A>G (rs1800896) (human)
RGD
PMID:28852433
RGD:14975143
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1b
interleukin 1 beta
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ameliorates
ISO
DNA:SNP:promoter:-174���G/C (human)
RGD
PMID:28852433 PMID:28100771
RGD:14975143 , RGD:127285675
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
mRNA:increased expression:liver
RGD
PMID:27942586
RGD:40924562
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Jak2
Janus kinase 2
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Krt18
keratin 18
severity
ISO ISS IEP
protein:increased degradation:plasma (human) protein:altered degradation:liver, serum (rat) protein:increased expression:serum (human) associated with morbid obesity;protein:increased degradation: plasma(human) protein:increased degradation:serum (human)
MouseDO RGD
PMID:19585618 PMID:24071521 PMID:21993925 PMID:18995215 PMID:19333204 PMID:24630506 More...
RGD:18337489 , RGD:27226810 , RGD:18337499 , RGD:18337495 , RGD:18337493 , RGD:18337490
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lepr
leptin receptor
susceptibility
ISO
DNA:SNPs: :rs1137100,rs1137101(human)
RGD
PMID:23278404
RGD:14696696
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mc4r
melanocortin 4 receptor
ISS
MouseDO
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
RGD
PMID:32015322
RGD:151356909
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mir21
microRNA 21
ameliorates
ISO
RNA:increased expression:liver
RGD
PMID:26338827 PMID:26338827
RGD:41404659 , RGD:41404659
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir221
microRNA 221
treatment disease_progression
ISO
RGD
PMID:30316865 PMID:22267590
RGD:18337274 , RGD:151709001
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir222
microRNA 222
disease_progression
ISO
RGD
PMID:22267590
RGD:151709001
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir223
microRNA 223
treatment
ISO
RNA:increased expression:liver:
RGD
PMID:31585800 PMID:30964207 PMID:30964207
RGD:21408547 , RGD:21408549 , RGD:21408549
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Mmp13
matrix metallopeptidase 13
ISO
mRNA:altered expression:liver (mouse)
RGD
PMID:24294355
RGD:407446378
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9
matrix metallopeptidase 9
ISO
mRNA:altered expression:liver (mouse)
RGD
PMID:24294355
RGD:407446378
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myd88
MYD88, innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:25790822
RGD:150519907
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:25385666
RGD:21201312
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkb1
nuclear factor kappa B subunit 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nox4
NADPH oxidase 4
susceptibility
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:20606728
RGD:21076282
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment
ISO IEP
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:28774887 PMID:30038487
RGD:15045601 , RGD:15092090
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Pck1
phosphoenolpyruvate carboxykinase 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Pdgfrb
platelet derived growth factor receptor beta
treatment
IEP
RGD
PMID:33315911
RGD:407420266
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pink1
PTEN induced kinase 1
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Prkn
parkin RBR E3 ubiquitin protein ligase
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
mRNA:increased expression:liver (human)
RGD
PMID:21425308
RGD:127229938
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpinf1
serpin family F member 1
treatment
ISO
human gene in a mouse model protein:increased expression:serum (human)
RGD
PMID:28365916 PMID:26121037
RGD:27226700 , RGD:27226705
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Smad4
SMAD family member 4
ISO
protein:increased expression:liver:
RGD
PMID:29696816 PMID:29696816
RGD:18937002 , RGD:18937002
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Sod1
superoxide dismutase 1
susceptibility
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:20606728
RGD:21076282
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
susceptibility
IEP ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:20606728 PMID:24649902
RGD:21076282 , RGD:26923960
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487 PMID:28458350
RGD:15092090 , RGD:401799674
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
IEP
RGD
PMID:33315911
RGD:407420266
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:29482933
RGD:15090806
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr9
toll-like receptor 9
disease_progression
ISO
mRNA, protein:increased expression:serum, liver (mouse)
RGD
PMID:24650018
RGD:18337469
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
susceptibility
IEP ISO
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (mouse)
RGD
PMID:20606728 PMID:28100771
RGD:21076282 , RGD:127285675
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Txnip
thioredoxin interacting protein
ISO
RGD
PMID:29482933
RGD:15090806
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Ubd
ubiquitin D
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Ulk1
unc-51 like autophagy activating kinase 1
treatment
IEP
RGD
PMID:34052187
RGD:407532640
NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966
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Abcb1a
ATP binding cassette subfamily B member 1A
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22112382
RGD:11040992
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22112382
RGD:11040992
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20040336
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)
CTD RGD
PMID:29341352 PMID:18926681
RGD:14700775
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc3
ATP binding cassette subfamily C member 3
IEP
protein:increased expression:liver
RGD
PMID:22112382
RGD:11040992
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcg5
ATP binding cassette subfamily G member 5
disease_progression
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:23117815
RGD:15045604
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
disease_progression
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:23117815
RGD:15045604
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
G
Acacb
acetyl-CoA carboxylase beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
G
Acadm
acyl-CoA dehydrogenase medium chain
treatment
IEP
RGD
PMID:23076603
RGD:10047124
NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
G
Acadvl
acyl-CoA dehydrogenase, very long chain
treatment
IEP
RGD
PMID:22569299 PMID:23076603
RGD:10047121 , RGD:10047124
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Aco1
aconitase 1
IDA
protein:increased activity:liver
RGD
PMID:23805238
RGD:11541090
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
G
Actb
actin, beta
IDA
protein:increased carbonylation:liver
RGD
PMID:25282656
RGD:11541097
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
IEP
mRNA, protein:increased expression, increased activity:liver, plasma (rat)
RGD
PMID:19652891
RGD:2315953
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
G
Adipoq
adiponectin, C1Q and collagen domain containing
susceptibility treatment disease_progression
IEP ISO
protein:decreased expression:serum DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) DNA:hypermethylation CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver associated with Obesity, Morbid; associated with obesity;protein:decreased expression:serum:
CTD RGD
PMID:20415685 PMID:22152320 PMID:22269154 PMID:26042596 PMID:27860427 PMID:19606393 PMID:18713296 PMID:15239085 PMID:21255792 More...
RGD:5685373 , RGD:14401719 , RGD:11076260 , RGD:14401717 , RGD:5686841 , RGD:5686810 , RGD:5686660 , RGD:5686355
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adipor2
adiponectin receptor 2
susceptibility treatment severity
ISO IEP
DNA:missense mutation:cds: (human) mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat) mRNA, protein:decreased expression:serum, liver (mouse)
RGD
PMID:25345946 PMID:25536648 PMID:19422483 PMID:26770322 PMID:17006986 PMID:29569260 More...
RGD:24922200 , RGD:25824941 , RGD:25440492 , RGD:25330097 , RGD:1599139 , RGD:24922201
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R (rs4994) (human)
RGD
PMID:15318095
RGD:5684892
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Ahcy
adenosylhomocysteinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29127188
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Akt1
AKT serine/threonine kinase 1
susceptibility treatment
ISO IEP
DNA:SNPs:intron, enhancer: (rs2494732, rs2494752) associated with Experimental Diabetes Mellitus
RGD
PMID:37525829 PMID:30186875
RGD:407419881 , RGD:14401598
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
G
Aldh1b1
aldehyde dehydrogenase 1 family, member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
G
Aldh1l2
aldehyde dehydrogenase 1 family, member L2
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776
G
Aldh2
aldehyde dehydrogenase 2 family member
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: (rs671) (human)
CTD RGD
PMID:29718361 PMID:25392542 PMID:27214654 PMID:31026768
RGD:15042863 , RGD:11536476 , RGD:15036808
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
G
Aldh4a1
aldehyde dehydrogenase 4 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:20967760
RGD:5509622
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
G
Apoa1
apolipoprotein A1
treatment
ISO
RGD
PMID:26420354
RGD:25671437
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoe
apolipoprotein E
IDA
RGD
PMID:21184788
RGD:6904141
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Apoh
apolipoprotein H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
G
Atg7
autophagy related 7
ISO
ClinVar Annotator: match by term: NAFLD1
ClinVar
PMID:25741868 PMID:35405176
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
G
Atp5f1a
ATP synthase F1 subunit alpha
IDA
RGD
PMID:25222487
RGD:13703054
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
G
Atp5f1b
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25666834
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
G
Azgp1
alpha-2-glycoprotein 1, zinc-binding
treatment
IEP
RGD
PMID:27982256
RGD:153352323
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
G
B3gat1
beta-1,3-glucuronyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
G
C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl2
C-C motif chemokine ligand 2
severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:25813056 PMID:24927058
RGD:14995922 , RGD:14995928
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
disease_progression treatment
IEP IMP
RGD
PMID:27639593 PMID:27639593
RGD:14995335 , RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism: :190A>G(human)
RGD
PMID:26591766
RGD:14995492
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd36
CD36 molecule
ISO
mRNA:increased expression:liver
RGD
PMID:21216282 PMID:24280415
RGD:6893543 , RGD:11041117
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cobll1
cordon-bleu WH2 repeat protein-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 3:49,753,260...49,915,168
Ensembl chr 3:49,753,262...49,915,194
G
Col1a1
collagen type I alpha 1 chain
treatment
ISO IDA
RGD
PMID:23703580 PMID:17241878
RGD:8552713 , RGD:2308807
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Cpt1a
carnitine palmitoyltransferase 1A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29289645 PMID:31211621
RGD:14747028
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:28824718
RGD:27095887
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15706422
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27565560
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
protein:decreased expression:liver (mouse)
RGD
PMID:29710028
RGD:25671411
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26428356 PMID:26703967 PMID:28458161 PMID:25317811
RGD:11573192 , RGD:14700881 , RGD:14700871
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Dgat2
diacylglycerol O-acyltransferase 2
treatment
IEP ISO
RGD
PMID:24166662 PMID:26394137 PMID:17618857
RGD:10400900 , RGD:329955565 , RGD:10401056
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
G
Ech1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
G
Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IEP
RGD
PMID:24351808
RGD:9588320
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22841818
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23127599
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fasn
fatty acid synthase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
G
Fgf21
fibroblast growth factor 21
severity
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:26797127 PMID:29289645 PMID:32195457
RGD:25330354
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
G
Fgfr1
Fibroblast growth factor receptor 1
severity
ISO
RGD
PMID:32195457
RGD:25330354
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Folr2
folate receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30794826
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
G
Foxo1
forkhead box O1
treatment
IMP
associated with Diabetes Mellitus, Experimental
RGD
PMID:30186875
RGD:14401598
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver
CTD RGD
PMID:35654975 PMID:23329013
RGD:329951008
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:30100243 PMID:27840945
RGD:14695535 , RGD:14695545
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:20211032
RGD:10449177
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31086990
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
G
Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
G
Gpt
glutamic--pyruvic transaminase
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:plasma
CTD RGD
PMID:35654975 PMID:24768200 PMID:22922605
RGD:14975160 , RGD:14975251
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
G
Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
G
Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24597775
RGD:11352823
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24622831
RGD:10401873
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gsta1
glutathione S-transferase alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
G
Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
IEP
protein:decreased expression:liver
RGD
PMID:24782632
RGD:14694831
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hamp
hepcidin antimicrobial peptide
IEP
associated with iron overload;protein:increased expression:serum (human) mRNA:increased expression:liver (human)
RGD
PMID:29871592 PMID:28051796
RGD:15042878 , RGD:15042880
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:9453491
RGD:8694420
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
disease_progression
IEP
mRNA:decreased expression:liver mRNA:decreased expression:liver (rat)
RGD
PMID:19913842 PMID:23117815
RGD:5508690 , RGD:15045604
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Hp
haptoglobin
IEP ISO
protein:increased expression:serum protein:decreased expression:serum
RGD
PMID:21806828 PMID:21806828
RGD:9491781 , RGD:9491781
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Htr2a
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:35732081
RGD:401900606
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Ide
insulin degrading enzyme
IEP
RGD
PMID:26576191
RGD:13792804
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
G
Ifi30
IFI30, lysosomal thiol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
G
Igf1
insulin-like growth factor 1
susceptibility
IEP
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)
RGD
PMID:24275070
RGD:12904726
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
susceptibility
IEP
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)
RGD
PMID:24275070
RGD:12904726
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igfbp7
insulin-like growth factor binding protein 7
treatment disease_progression
ISO IEP
mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat)
RGD
PMID:31397492 PMID:35312185 PMID:36034446 PMID:31805951
RGD:401960873 , RGD:401960879 , RGD:401960878 , RGD:401960876
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21115542
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Il10
interleukin 10
severity
ISO
associated with morbid obesity
RGD
PMID:25894568
RGD:14975151
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:18802068
RGD:4145478
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il18
interleukin 18
treatment severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:24006666 PMID:28660148 PMID:20422882
RGD:8655964 , RGD:14696674 , RGD:14696664
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
no_association
ISO
DNA:SNPs:CDS:rs1143634 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:CDS:rs16944 (human)
CTD RGD
PMID:32613381 PMID:27730688 PMID:27730688
RGD:14975293 , RGD:14975293
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
severity
ISO
associated with morbid obesity, protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35654975 PMID:22027586
RGD:14401582
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il3
interleukin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
ISO
mRNA,protein:increased expression:liver,plasma DNA:SNPs:promoter:rs10499563, rs1800795 (human)
RGD
PMID:18510618 PMID:27730688
RGD:7829808 , RGD:14975293
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32613381
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Insr
insulin receptor
susceptibility treatment
IMP ISO IEP
DNA:deletion:cds:codon 306 in exon 4 (mouse) DNA:deletion:cds: (codon 306, exon 4) (mouse)
RGD
PMID:28468951 PMID:28468951 PMID:29325294
RGD:14700929 , RGD:14700929 , RGD:14700932
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Irs1
insulin receptor substrate 1
IEP
RGD
PMID:20846698
RGD:6483014
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Irs2
insulin receptor substrate 2
IEP
RGD
PMID:20846698
RGD:6483014
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
G
Jak2
Janus kinase 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28100771 PMID:18782535
RGD:6483030
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Klb
klotho beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
G
Krt18
keratin 18
disease_progression
ISO IEP
protein:increased expression:serum (human) associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) protein:increased degradation:serum (rat)
RGD
PMID:30839434 PMID:29989845 PMID:30149902 PMID:30089409
RGD:18337481 , RGD:26884460 , RGD:18337497 , RGD:18337482
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
G
Lama1
laminin subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
G
Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20938947 PMID:23127599 PMID:23285030
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lep
leptin
ISO ISS IEP
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism OMIM:613282 | OMIM:613387 associated with type 2 diabetes mellitus;protein:increased expression:serum (human) associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)
CTD MouseDO RGD
PMID:24211274 PMID:36105184 PMID:18713300 PMID:30052309 PMID:20476641
RGD:2311137 , RGD:25330349 , RGD:25330346
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
susceptibility
ISO ISS
DNA:intron:c.2673+1118C>T (rs6700896) (human) DNA:SNP:cds:p.Q223R(human) OMIM:613282 | OMIM:613387
MouseDO RGD
PMID:22215535 PMID:27257426
RGD:14696694 , RGD:21079462
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lif
LIF, interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
G
Lpl
lipoprotein lipase
treatment
IDA IEP
RGD
PMID:30214514 PMID:27978932
RGD:13793398 , RGD:13794377
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Mapk8
mitogen-activated protein kinase 8
treatment
IEP
associated with Diabetes Mellitus, Type 2; protein:increased phosphorylation:adipose tissue, liver (rat)
RGD
PMID:24404139 PMID:27909723
RGD:13506784 , RGD:150340686
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Met
MET proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
RGD
PMID:24845607
RGD:14694829
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:26401075
RGD:13204743
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
G
Mir155
microRNA 155
ISO
miRNA:decreased expression:blood, liver
RGD
PMID:27856635 PMID:27832630
RGD:21079446 , RGD:25671479
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir200b
microRNA 200b
severity
ISO
induced by nutritional deficiency.
RGD
PMID:22561871 PMID:20548288
RGD:14928332 , RGD:14974031
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
G
Mir20a
microRNA 20a
IEP
associated with type 2 diabetes mellitus
RGD
PMID:30030064
RGD:25823148
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
G
Mir22
microRNA 22
severity treatment
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
G
Mir34a
microRNA 34a
ISO
miRNA:increased expression:plasma
RGD
PMID:27077736
RGD:11533145
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
G
Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
G
Mlycd
malonyl-CoA decarboxylase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
G
Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mrtfa
myocardin related transcription factor A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33779332
NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418
G
Mthfr
methylenetetrahydrofolate reductase
severity susceptibility
ISO
DNA:SNP: :1298A > C (human) DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:24488901 PMID:17563923
RGD:14696706 , RGD:14696748
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mttp
microsomal triglyceride transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35654975 PMID:15094225
RGD:1581245
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
G
Nampt
nicotinamide phosphoribosyltransferase
treatment
IEP
RGD
PMID:27982256
RGD:153352323
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
G
Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25294219 PMID:23592516
RGD:10412712
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nlrp3
NLR family, pyrin domain containing 3
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nos2
nitric oxide synthase 2
ISO
mRNA, protein:increased expression:liver (mouse)
RGD
PMID:21948338
RGD:5509578
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29289645 PMID:28932253
RGD:13434914
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment disease_progression susceptibility
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (rat) mRNA:decreased expression:liver (rat) DNA:deletion:cds:exon 9 (mouse)
CTD RGD
PMID:29142166 PMID:32062620 PMID:29743187 PMID:30257410 PMID:23117815 PMID:23700488 More...
RGD:14696797 , RGD:15090799 , RGD:15045604 , RGD:14701033
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
G
Nr5a2
nuclear receptor subfamily 5, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29515023
NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
G
Pdk4
pyruvate dehydrogenase kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850
G
Pemt
phosphatidylethanolamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
G
Pgrmc1
progesterone receptor membrane component 1
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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Phyh
phytanoyl-CoA 2-hydroxylase
treatment
IEP
RGD
PMID:29031784
RGD:13831310
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
G
Pklr
pyruvate kinase L/R
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Pla2g7
phospholipase A2 group VII
ISO
protein:increased expression:serum
RGD
PMID:22112193
RGD:6482771
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Pnpla3
patatin-like phospholipase domain containing 3
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease OMIM:613282 | OMIM:613387 DNA:SNPs: :rs738407, rs738409, and rs2896019 (human) associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human)
CTD ClinVar MouseDO RGD
PMID:18820647 PMID:21381068 PMID:24033266 PMID:24531328 PMID:24917523 PMID:25290313 PMID:25741868 PMID:26200108 PMID:27180240 PMID:27288299 PMID:28073161 PMID:28492532 PMID:29158695 PMID:24831885 PMID:24477042 PMID:26740948 More...
RGD:14981596 , RGD:14981593 , RGD:13463463
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Pon2
paraoxonase 2
treatment
IEP
RGD
PMID:22536512
RGD:8661257
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
G
Ppara
peroxisome proliferator activated receptor alpha
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23603006 PMID:31211621
RGD:14747028
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
G
Ppard
peroxisome proliferator-activated receptor delta
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16574099 PMID:29289645
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
treatment susceptibility
IDA IEP ISO
associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human)
RGD
PMID:21373642 PMID:26394137 PMID:23269818
RGD:6484527 , RGD:329955565 , RGD:7241847
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b
PPARG coactivator 1 beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
G
Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34678374
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Prf1
perforin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prkcd
protein kinase C, delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prkce
protein kinase C, epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26023714
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
treatment
ISO
RGD
PMID:26723251
RGD:11086779
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rag2
recombination activating 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
G
Rarres2
retinoic acid receptor responder 2
disease_progression
ISO IEP
mRNA:decreased expression:liver mRNA, protein:decreased expression:liver,serum
RGD
PMID:23507574 PMID:23507574 PMID:23507574
RGD:15036822 , RGD:15036822 , RGD:15036822
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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Rdx
radixin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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Retn
resistin
IEP
protein:increased expression:serum
RGD
PMID:20560816
RGD:7207249
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Samm50
SAMM50 sorting and assembly machinery component
ISO
DNA:SNPs: :
RGD
PMID:26740948
RGD:13463463
NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682
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Scarb1
scavenger receptor class B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23127599
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpinb2
serpin family B member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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Serpine1
serpin family E member 1
ISO
protein:increased expression:blood:
RGD
PMID:25091195
RGD:13208545
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sidt2
SID1 transmembrane family, member 2
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sirt1
sirtuin 1
treatment severity
IEP ISO
CTD Direct Evidence: therapeutic associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue protein:decreased expression:liver
CTD RGD
PMID:26026874 PMID:17498258 PMID:20033348 PMID:22902550
RGD:9585663 , RGD:9586021 , RGD:9585746
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt2
sirtuin 2
treatment
IDA
associated with Obesity
RGD
PMID:22327056
RGD:9586049
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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Sirt3
sirtuin 3
treatment
IDA
associated with Obesity
RGD
PMID:22327056
RGD:9586049
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Sirt4
sirtuin 4
IEP
RGD
PMID:20651844
RGD:9586052
NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
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Sirt6
sirtuin 6
treatment
IEP
RGD
PMID:21373642
RGD:6484527
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:15094225 PMID:24597775
RGD:1581245 , RGD:11352823
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
disease_progression treatment
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (mouse)
CTD RGD
PMID:23603006 PMID:24633463 PMID:29173234 PMID:26394137
RGD:401827867 , RGD:329955565
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Stat3
signal transducer and activator of transcription 3
IDA
RGD
PMID:18782535
RGD:6483030
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stc2
stanniocalcin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097666
NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
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Tff3
trefoil factor 3
treatment
ISO
mRNA,protein:decreased expression:liver:
RGD
PMID:31211621 PMID:31211621
RGD:14747028 , RGD:14747028
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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Tfrc
transferrin receptor
IEP
protein:increased expression:liver
RGD
PMID:23805238
RGD:11541090
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tg
thyroglobulin
sexual_dimorphism
ISO
RGD
PMID:30016121
RGD:401976499
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615 PMID:32613381
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr4
toll-like receptor 4
treatment severity
IEP ISO
mRNA:increased expression:liver:
RGD
PMID:23301938 PMID:25413054 PMID:22253482
RGD:7777122 , RGD:14700658 , RGD:14700656
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:liver (human, mouse)
RGD
PMID:28687713
RGD:18337289
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tm6sf2
transmembrane 6 superfamily member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531328
NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431
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Tnf
tumor necrosis factor
treatment severity
IEP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum, liver (rat) associated with morbid obesity
CTD RGD
PMID:32613381 PMID:25219124 PMID:19034968 PMID:25894568
RGD:10450574 , RGD:14995482 , RGD:14975151
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
RGD
PMID:27253414
RGD:151347600
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Trib1
tribbles pseudokinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
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Ucp2
uncoupling protein 2
treatment
IDA ISO IEP
mRNA:increased expression:liver mRNA, protein:increased expression:liver
RGD
PMID:21359922 PMID:18308829 PMID:18543254
RGD:7175312 , RGD:7204435 , RGD:7204434
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Vdr
vitamin D receptor
treatment
ISO
mRNA,protein:increased expression:hepatocyte:
RGD
PMID:27245430 PMID:27245430 PMID:27245430
RGD:14401753 , RGD:14401753 , RGD:14401753
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vldlr
very low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Xbp1
X-box binding protein 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24097666 PMID:26394137
RGD:329955565
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Adm2
adrenomedullin 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Alg12
ALG12, alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
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Alms1
ALMS1, centrosome and basal body associated protein
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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Arsa
arylsulfatase A
ISO ISS
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | 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 Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | 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 Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | 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 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 OMIM:249900 | OMIM:250100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD 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:7749412 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:9272717 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:15710861 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17413447 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:20141713 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:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25344692 PMID:25482214 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:28799099 PMID:28923328 PMID:29379168 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29961769 PMID:29966168 PMID:30026549 PMID:30052522 PMID:30057904 PMID:30293248 PMID:30652456 PMID:30674982 PMID:30828547 PMID:30834272 PMID:30967997 PMID:31069529 PMID:31130284 PMID:31149247 PMID:31186049 PMID:31312839 PMID:31410132 PMID:31664448 PMID:31694723 PMID:31922587 PMID:31922725 PMID:31967741 PMID:31969187 PMID:31980526 PMID:32034743 PMID:32113700 PMID:32617873 PMID:32632536 PMID:32860008 PMID:32875726 PMID:33046606 PMID:33138774 PMID:33185815 PMID:33335837 PMID:33385934 PMID:33855715 PMID:34276053 PMID:34490615 PMID:34554397 PMID:36240581 PMID:36324388 PMID:37480112 PMID:15375602 PMID:15026521 More...
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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Arsb
arylsulfatase B
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...
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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Brd1
bromodomain containing 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Chkb
choline kinase beta
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
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Cimap1b
ciliary microtubule associated protein 1B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749
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Clcn1
chloride voltage-gated channel 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:28492532 PMID:34529042
NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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Cpt1b
carnitine palmitoyltransferase 1B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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Creld2
cysteine-rich with EGF-like domains 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
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Dennd6b
DENN domain containing 6B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
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Eif2b5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707 More...
NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
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...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
PMID:8364584 PMID:8471773 PMID:10502785 PMID:11793482 PMID:16329560 PMID:16607506 PMID:16927025 PMID:20203002 PMID:25541721 PMID:25741868 PMID:28492532 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30315739 PMID:31489982 PMID:34659341 PMID:36681081 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
PMID:25741868
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Hdac10
histone deacetylase 10
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899
NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Klhdc7b
kelch domain containing 7B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737
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Lmf2
lipase maturation factor 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
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Mal
mal, T-cell differentiation protein
ISO
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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Mapk11
mitogen-activated protein kinase 11
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
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Mapk12
mitogen-activated protein kinase 12
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
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Mapk8ip2
mitogen-activated protein kinase 8 interacting protein 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
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Miox
myo-inositol oxygenase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
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Mlc1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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Mov10l1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
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Ncaph2
non-SMC condensin II complex, subunit H2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Panx2
pannexin 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
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Pim3
Pim-3 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
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Plxnb2
plexin B2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30450527 More...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Ppp6r2
protein phosphatase 6, regulatory subunit 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
G
Psap
prosaposin
ISS ISO
OMIM:249900 | OMIM:250100 ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
MouseDO ClinVar
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:34649574 PMID:35456468 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Sbf1
SET binding factor 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Selenoo
selenoprotein O
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
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Syce3
synaptonemal complex central element protein 3
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
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Trabd
TraB domain containing
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
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Ttll8
tubulin tyrosine ligase like 8
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
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Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
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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Zbed4
zinc finger, BED-type containing 4
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
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Cdh23
cadherin-related 23
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
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap
prosaposin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency
CTD OMIM ClinVar
PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:15944902 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:25741868 PMID:26462614 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:35456468 More...
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
ISS
OMIM:251850
MouseDO
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
ISO ISS
ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM:251850 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:21282656 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:26553929 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:28899465 PMID:29218485 PMID:29266534 PMID:31750554 PMID:32304554 PMID:32888943 PMID:33525641 More...
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
ISO
ClinVar Annotator: match by term: Mucolipidosis
ClinVar
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 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:26130485 PMID:26385638 PMID:27662472 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:29704188 PMID:29872134 PMID:29966168 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31130284 PMID:31579991 PMID:31934135 PMID:32651481 PMID:33000604 More...
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
ISO
ClinVar Annotator: match by term: Mucolipidosis
ClinVar
PMID:24033266 PMID:25741868
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
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mucolipidosis
CTD ClinVar
PMID:9450896 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 PMID:37972748 More...
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
ISO ISS
ClinVar Annotator: match by term: Mucolipidosis type II OMIM:252500
OMIM ClinVar MouseDO
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:25640679 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25788519 PMID:26130485 PMID:26274329 PMID:26385638 PMID:26633542 PMID:27180337 PMID:27239697 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:31589614 PMID:31603145 PMID:31785789 PMID:31795562 PMID:31934135 PMID:32014045 PMID:32341820 PMID:32651481 PMID:32746448 PMID:32860008 PMID:33000604 PMID:33594065 PMID:34008892 PMID:34426522 PMID:34440436 PMID:34645491 PMID:35463894 More...
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
ISO
ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical
ClinVar
PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532
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
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:16199547 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:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:32651481 PMID:34426522 PMID:34440436 PMID:34645491 More...
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
ISO
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:20951619 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:24807205 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27896079 PMID:28492532 PMID:28950892 PMID:29170090 PMID:29704188 PMID:29872134 PMID:30235039 PMID:30507725 PMID:30882951 PMID:32651481 PMID:36344539 More...
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
ISO
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM
ClinVar
PMID:25741868
NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
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Adamts10
ADAM metallopeptidase with thrombospondin type 1 motif, 10
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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Adgre1
adhesion G protein-coupled receptor E1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,242,476...2,398,000
Ensembl chr 9:2,242,474...2,398,000
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Alkbh7
alkB homolog 7
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,838,886...1,841,044
Ensembl chr 9:1,838,811...1,841,044
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Angptl4
angiopoietin-like 4
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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Arhgef18
Rho/Rac guanine nucleotide exchange factor 18
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081
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C3
complement C3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Camsap3
calmodulin regulated spectrin-associated protein family, member 3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,643,062...1,666,685
Ensembl chr12:1,643,251...1,666,685
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Ccl25
C-C motif chemokine ligand 25
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
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Cd209d
CD209d molecule
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd320
CD320 molecule
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
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Cd70
Cd70 molecule
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
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Cers4
ceramide synthase 4
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr12:2,851,784...2,890,244
Ensembl chr12:2,851,784...2,886,828
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Clec4g
C-type lectin domain family 4, member G
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,780,370...1,785,027
Ensembl chr12:1,780,371...1,784,985
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Clec4m
C-type lectin domain family 4 member M
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
G
Crb3
crumbs cell polarity complex component 3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,898,531...1,903,860
Ensembl chr 9:1,896,623...1,903,859
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Ctxn1
cortexin 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,610,465...2,612,076
G
Dennd1c
DENN domain containing 1C
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,904,040...1,916,329
Ensembl chr 9:1,904,045...1,916,187
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Elavl1
ELAV like RNA binding protein 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,640,936...2,684,787
Ensembl chr12:2,645,061...2,684,784
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Evi5l
ecotropic viral integration site 5-like
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,519,648...2,558,766
Ensembl chr12:2,519,671...2,559,950
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Fcer2
Fc epsilon receptor II
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
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Gpr108
G protein-coupled receptor 108
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,120,740...2,131,771
Ensembl chr 9:2,120,744...2,132,572
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Gtf2f1
general transcription factor IIF subunit 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,844,027...1,853,455
Ensembl chr 9:1,843,901...1,853,423
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Hnrnpm
heterogeneous nuclear ribonucleoprotein M
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Kank3
KN motif and ankyrin repeat domains 3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,594,358...14,607,675
Ensembl chr 7:14,594,422...14,607,675
G
Khsrp
KH-type splicing regulatory protein
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451
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Lrrc8e
leucine rich repeat containing 8 VRAC subunit E
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412
G
Map2k7
mitogen activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
G
Marchf2
membrane associated ring-CH-type finger 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,480,605...14,507,821
Ensembl chr 7:14,481,761...14,507,794
G
Mbd3l2
methyl-CpG binding domain protein 3-like 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 8:15,607,477...15,614,046
Ensembl chr 8:15,611,214...15,612,563
G
Mcemp1
mast cell-expressed membrane protein 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,721,781...1,727,350
Ensembl chr12:1,718,730...1,725,986
G
Mcoln1
mucolipin TRP cation channel 1
ISO ISS
ClinVar Annotator: match by term: Mucolipidosis type IV OMIM:252650
OMIM ClinVar MouseDO
PMID:9450896 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:23685283 PMID:24033266 PMID:25119295 PMID:25465891 PMID:25741868 PMID:25933391 PMID:26467025 PMID:27670435 PMID:28112729 PMID:28492532 PMID:28604674 PMID:28936784 PMID:29019983 PMID:30120981 PMID:31578829 PMID:31618753 PMID:31623504 PMID:31899079 PMID:32214227 PMID:32860008 PMID:33454187 PMID:33963976 PMID:35425852 PMID:36344503 PMID:37972748 More...
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Myo1f
myosin IF
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,363,340...14,413,911
Ensembl chr 7:14,363,350...14,413,911
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Ndufa7
NADH:ubiquinone oxidoreductase subunit A7
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,609,283...14,622,064
Ensembl chr 7:14,609,146...14,631,976
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Pcp2
Purkinje cell protein 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,681,659...1,683,899
Ensembl chr12:1,681,659...1,683,899
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Pet100
PET100 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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Pex11g
peroxisomal biogenesis factor 11 gamma
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Pram1
PML-RARA regulated adaptor molecule 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,428,548...14,438,081
Ensembl chr 7:14,420,165...14,438,166
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Pspn
persephin
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,840,906...1,841,748
Ensembl chr 9:1,840,896...1,854,327
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Rab11b
RAB11B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593
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Retn
resistin
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rps28
ribosomal protein S28
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170
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Saxo5
stabilizer of axonemal microtubules 5
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118
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Sh2d3a
SH2 domain containing 3A
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,148,803...2,158,150
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Slc25a23
solute carrier family 25 member 23
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,882,636...1,898,369
Ensembl chr 9:1,882,621...1,898,561
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Slc25a41
solute carrier family 25, member 41
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,873,692...1,881,405
Ensembl chr 9:1,873,692...1,881,424
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Snapc2
small nuclear RNA activating complex, polypeptide 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,605,794...2,608,997
Ensembl chr12:2,605,810...2,608,999
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Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Tgfbr3l
transforming growth factor beta receptor 3 like
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,600,874...2,604,211
Ensembl chr12:2,600,934...2,604,222
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Timm44
translocase of inner mitochondrial membrane 44
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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Tnfsf14
TNF superfamily member 14
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216
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Tnfsf9
TNF superfamily member 9
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Trappc5
trafficking protein particle complex subunit 5
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,737,666...1,741,312
Ensembl chr12:1,737,627...1,742,637
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Trip10
thyroid hormone receptor interactor 10
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799
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Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Vav1
vav guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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Xab2
XPA binding protein 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692
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Zfp358
zinc finger protein 358
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460
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Zfp414
zinc finger protein 414
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,420,232...14,422,939
Ensembl chr 7:14,420,165...14,438,166
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Multiple sulfatase deficiency
ClinVar
PMID:28492532
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Sumf1
sulfatase modifying factor 1
ISS
OMIM:272200
MouseDO
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
ISO
ClinVar Annotator: match by term: Multiple sulfatase deficiency
ClinVar
PMID:12757706
NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Sialidase deficiency
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:26431509 PMID:27538677 PMID:28492532 PMID:32027066 PMID:32792356 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:17576681 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:23291686 PMID:23391804 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:32453490 PMID:32472645 PMID:32485644 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34476202 PMID:34992946 PMID:35036219 More...
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Aagab
alpha- and gamma-adaptin binding protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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Abhd16b
abhydrolase domain containing 16B
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
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Abhd18
abhydrolase domain containing 18
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
NCBI chr 2:123,872,299...123,920,987
Ensembl chr 2:123,872,386...123,920,231
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Adrm1
ADRM1 26S proteasome ubiquitin receptor
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,169,019...181,173,206
Ensembl chr 1:181,168,916...181,173,528
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Arfgap1
ADP-ribosylation factor GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:15024724 PMID:28116333 PMID:28492532
NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173
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Arsg
arylsulfatase G
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 PMID:37290756 PMID:37341581 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022275 PMID:22847264
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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Brsk2
BR serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092
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C1h11orf42
similar to human chromosome 11 open reading frame 42
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,722,255...159,725,863
Ensembl chr 1:159,718,679...159,725,904
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C8h15orf61
similar to human chromosome 15 open reading frame 61
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751
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Cables2
Cdk5 and Abl enzyme substrate 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
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Calml4
calmodulin-like 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234
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Cavin3
caveolae associated protein 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,826,549...159,828,138
Ensembl chr 1:159,826,549...159,828,161
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Cckbr
cholecystokinin B receptor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,771,733...159,781,738
Ensembl chr 1:159,771,733...159,814,881
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Cd151
CD151 molecule (Raph blood group)
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd81
Cd81 molecule
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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Cdhr5
cadherin-related family member 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Cend1
cell cycle exit and neuronal differentiation 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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Chid1
chitinase domain containing 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
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Chrna4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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
ISO
RGD
PMID:12059962
RGD:734783
NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
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:19135632 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:24625443 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:31926949 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32631363 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34849271 PMID:34906470 PMID:35929194 PMID:36011402 PMID:36139381 PMID:36909829 More...
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
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:8001159 PMID:9536098 PMID:9662406 PMID:10528251 PMID:10953198 PMID:11727201 PMID:11971870 PMID:12134079 PMID:12673792 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:17607606 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20127975 PMID:20157158 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21447811 PMID:21990111 PMID:22532218 PMID:22589734 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 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:30394532 PMID:30655561 PMID:30919163 PMID:31069529 PMID:31105743 PMID:31130284 PMID:31406620 PMID:31493945 PMID:31741823 PMID:32005694 PMID:32302805 PMID:32393339 PMID:32983231 PMID:34906502 PMID:36339300 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis DNA:mutations: : CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17046213 PMID:17453415 PMID:17576681 PMID:17988881 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:20430023 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:22883287 PMID:23374165 PMID:23789114 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25401298 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:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31741823 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34786481 PMID:34868216 PMID:35505348 PMID:36435927 PMID:11791207 PMID:21549341 PMID:11791207 More...
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
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:9536098 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:17576681 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:25806950 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27629047 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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Coro2b
coronin 2B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302
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Cracr2b
calcium release activated channel regulator 2B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:16685649 PMID:17576681 PMID:18762956 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26059544 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:29373990 PMID:32421885 PMID:33681191 PMID:34331747 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:16199547 PMID:23297359 PMID:25274848 PMID:25741868 PMID:28492532 PMID:31692161 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Dis3l
DIS3-like exosome 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165
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Dnajc5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9536098 PMID:14534157 PMID:17576681 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25741868 PMID:25921748 PMID:26467025 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 PMID:32412666 PMID:32662538 PMID:33179747 PMID:34720963 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Fem1b
fem-1 homolog B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
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Fhip1b
FHF complex subunit HOOK interacting protein 1B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
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
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Gsg1l
GSG1-like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,440,398...180,654,342
Ensembl chr 1:180,442,630...180,654,134
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Gtf3c1
general transcription factor IIIC subunit 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201
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H19
H19 imprinted maternally expressed transcript
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Hpx
hemopexin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression:brain
RGD
PMID:21094208
RGD:5686293
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Ifitm10
interferon induced transmembrane protein 10
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151
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Igf2
insulin-like growth factor 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il27
interleukin 27
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Ilk
integrin-linked kinase
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Iqch
IQ motif containing H
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223
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Irf7
interferon regulatory factor 7
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Itga11
integrin subunit alpha 11
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407
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Katnip
katanin interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:22748208 PMID:25741868 PMID:25976102 PMID:27742667 PMID:28492532 PMID:30295347 PMID:31130284 More...
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
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Krtap5-1
keratin associated protein 5-1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,278,886...197,279,893
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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Lat
linker for activation of T cells
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
G
Lctl
lactase-like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357
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Lime1
Lck interacting transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
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Lmntd2
lamin tail domain containing 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
G
LOC120094551
U6 spliceosomal RNA
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
G
Lsp1
lymphocyte-specific protein 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
G
Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k5
mitogen activated protein kinase kinase 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
G
Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:2703059 PMID:25741868 PMID:34276053
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
G
Megf11
multiple EGF-like-domains 11
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061
G
Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:18850119 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 PMID:22668694 PMID:25227500 PMID:25333361 PMID:25741868 PMID:26075876 PMID:26681805 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28708303 PMID:29655203 PMID:31006324 PMID:31741823 PMID:32037395 PMID:32581362 PMID:33546218 PMID:34828358 PMID:34910516 PMID:35087090 More...
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
G
Mir1b
microRNA 1b
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
G
Mir210
microRNA 210
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
G
Mir3582
microRNA 3582
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
G
Mob2
MOB kinase activator 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933
G
Mrgbp
MRG domain binding protein
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
G
Mrpl23
mitochondrial ribosomal protein L23
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
G
Mycbp2
MYC binding protein 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
G
Nfatc2ip
nuclear factor of activated T-cells 2 interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
G
Nkain4
Sodium/potassium transporting ATPase interacting 4
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
G
Ntsr1
neurotensin receptor 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
G
Nupr1
nuclear protein 1, transcriptional regulator
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
G
Ogfr
opioid growth factor receptor
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
G
Or52b2
olfactory receptor family 52 subfamily B member 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,695,507...159,696,475
Ensembl chr 1:159,694,964...159,701,227
G
Or52e4
olfactory receptor family 52 subfamily E member 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,454,581...159,455,519
Ensembl chr 1:159,454,581...159,455,519
G
Or52e8
olfactory receptor family 52 subfamily E member 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,360,430...159,361,380
Ensembl chr 1:159,360,430...159,361,380
G
Or52l1b
olfactory receptor family 52 subfamily L member 1B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,543,892...159,544,842
Ensembl chr 1:159,543,892...159,544,887
G
Or52n1
olfactory receptor family 52 subfamily N member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,128,222...159,129,187
Ensembl chr 1:159,128,222...159,129,187
G
Or52n2
olfactory receptor family 52 subfamily N member 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,204,524...159,205,480
Ensembl chr 1:159,203,518...159,207,587
G
Or52n4c
olfactory receptor family 52 subfamily N member 4C
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:158,972,002...158,972,967
Ensembl chr 1:158,972,002...158,972,971
G
Or52w1
olfactory receptor family 52 subfamily W member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,715,755...159,716,744
Ensembl chr 1:159,715,755...159,716,744
G
Or52x1
olfactory receptor family 52 subfamily X member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,601,106...159,602,059
Ensembl chr 1:159,600,106...159,604,707
G
Or56a3b
olfactory receptor family 56 subfamily A member 3B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,476,168...159,477,115
Ensembl chr 1:159,472,054...159,479,841
G
Or56a5
olfactory receptor family 56 subfamily A member 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,500,672...159,501,610
Ensembl chr 1:159,500,672...159,501,610
G
Or56b1
olfactory receptor family 56 subfamily B member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:158,910,597...158,911,556
Ensembl chr 1:158,904,179...158,911,730
G
Or56b6
olfactory receptor family 56 subfamily B member 6
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,619,288...159,620,253
Ensembl chr 1:159,616,811...159,622,534
G
Osbpl2
oxysterol binding protein-like 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
G
Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
G
Pias1
protein inhibitor of activated STAT, 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
G
Pidd1
p53-induced death domain protein 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
G
Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
G
Polr2l
RNA polymerase II, I and III subunit L
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,570,051...196,572,060
G
Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
G
Ppt1
palmitoyl-protein thioesterase 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11589012 PMID:12382155 PMID:14997939 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:26707855 PMID:26795593 PMID:28492532 PMID:28878621 PMID:29631617 PMID:30842224 PMID:30952489 PMID:31741823 PMID:33561134 PMID:35217970 More...
NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
G
Ppt2
palmitoyl-protein thioesterase 2
ISO ISS
MouseDO RGD
PMID:11717424
RGD:734785
NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774
G
Prpf6
pre-mRNA processing factor 6
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
G
Ptk6
protein tyrosine kinase 6
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
G
Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
G
Rabep2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
G
Rassf7
Ras association domain family member 7
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
G
Rbbp8nl
RBBP8 N-terminal like
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
G
Rpl4
ribosomal protein L4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
G
Rplp2
ribosomal protein lateral stalk subunit P2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
G
Rps21-ps1
ribosomal protein S21, pseudogene 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
G
Rrp8
ribosomal RNA processing 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:160,081,092...160,088,709
Ensembl chr 1:160,084,295...160,089,331
G
Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
G
Sbk1
SH3 domain binding kinase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,807,092...180,851,910
Ensembl chr 1:180,807,099...180,851,885
G
Scel
sciellin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
G
Sct
secretin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
G
Sgf29
SAGA complex associated factor 29
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,238,458...181,271,931
Ensembl chr 1:181,238,468...181,274,781
G
Sh2b1
SH2B adaptor protein 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
G
Skor1
SKI family transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756
G
Slain1
SLAIN motif family, member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
G
Slc17a9
solute carrier family 17 member 9
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
G
Slc25a22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
G
Slc2a4rg
SLC2A4 regulator
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,493,975...168,497,616
G
Slco4a1
solute carrier organic anion transporter family, member 4a1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
G
Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
G
Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
G
Snapc5
small nuclear RNA activating complex, polypeptide 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:12946273
RGD:1581253
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Spns1
SPNS lysolipid transporter 1, lysophospholipid
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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Srms
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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Stmn3
stathmin 3
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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Sult1a1
sulfotransferase family 1A member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
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Syt8
synaptotagmin 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504
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Taf10
TATA-box binding protein associated factor 10
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376
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Taldo1
transaldolase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
G
Tcfl5
transcription factor like 5
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
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Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Timm10b
translocase of inner mitochondrial membrane 10B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,980,525...159,983,371
Ensembl chr 1:159,980,484...159,981,642
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Tipin
timeless interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352
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Tmem80
transmembrane protein 80
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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Tnni2
troponin I2, fast skeletal type
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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Tpd52l2
TPD52 like 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
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Tpp1
tripeptidyl peptidase 1
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:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 PMID:10356316 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11339651 PMID:11589009 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:15965709 PMID:16199547 PMID:16782851 PMID:16814585 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22245569 PMID:22344438 PMID:22612257 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26143525 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27146152 PMID:27407112 PMID:27553520 PMID:28165011 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:29056246 PMID:29631617 PMID:29655203 PMID:29687370 PMID:30119717 PMID:30541466 PMID:30771299 PMID:30792901 PMID:31059981 PMID:31069529 PMID:31122803 PMID:31139143 PMID:31216804 PMID:31283065 PMID:31440721 PMID:31489614 PMID:31589614 PMID:31741823 PMID:32146219 PMID:32329550 PMID:32412666 PMID:33348105 PMID:33377563 PMID:33604240 PMID:34120799 PMID:34849271 PMID:35314707 PMID:35796208 PMID:36403551 More...
NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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Trim3
tripartite motif-containing 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,950,921...159,973,600
Ensembl chr 1:159,944,908...159,973,600
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Trpm5
transient receptor potential cation channel, subfamily M, member 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654
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Tspan32
tetraspanin 32
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445
G
Tspan4
tetraspanin 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448
G
Tssc4
tumor suppressing subtransferable candidate 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980
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Tufm
Tu translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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Xpo6
exportin 6
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,672,114...180,761,543
Ensembl chr 1:180,672,119...180,761,543
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
G
Zfp512b
zinc finger protein 512B
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
G
Zgpat
zinc finger CCCH-type and G-patch domain containing
ISO
ClinVar Annotator: match by term: Ceroid storage disease ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
G
Zwilch
zwilch kinetochore protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916
G
Cln8
CLN8, transmembrane ER and ERGIC protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar
PMID:28492532 PMID:29503925
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Fis1
fission, mitochondrial 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar
PMID:28492532
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
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Mfn1
mitofusin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Ppargc1a
PPARG coactivator 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppt1
palmitoyl-protein thioesterase 1
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 | ClinVar Annotator: match by term: PPT1-related condition OMIM:256730 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10191109 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11520175 PMID:11589012 PMID:11727201 PMID:12125808 PMID:12382155 PMID:12796825 PMID:12855696 PMID:14997939 PMID:15464427 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:17576681 PMID:18414213 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21224254 PMID:21228398 PMID:21499717 PMID:21704547 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24033266 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25640679 PMID:25741868 PMID:26075876 PMID:26275418 PMID:26467025 PMID:26510000 PMID:26707855 PMID:26795593 PMID:27722792 PMID:28492532 PMID:28559085 PMID:28878621 PMID:29631617 PMID:29655203 PMID:30378543 PMID:30541466 PMID:30842224 PMID:30952489 PMID:31069529 PMID:31440721 PMID:31489614 PMID:31741823 PMID:33486620 PMID:33528079 PMID:33547378 PMID:33561134 PMID:34114234 PMID:34849271 PMID:34906470 PMID:35217970 PMID:35693655 PMID:11717424 More...
RGD:734785
NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Syp
synaptophysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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Tfam
transcription factor A, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Ctsd
cathepsin D
ISO ISS
OMIM:610127 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
OMIM MouseDO CTD ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:33681191 More...
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Grn
granulin precursor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11
OMIM ClinVar
PMID:9536098 PMID:16862116 PMID:16950801 PMID:17228326 PMID:17371905 PMID:17576681 PMID:17698705 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18234697 PMID:18245784 PMID:18314228 PMID:18392865 PMID:18543312 PMID:18565828 PMID:18723524 PMID:18838661 PMID:19020205 PMID:19158106 PMID:19683260 PMID:20020531 PMID:20028451 PMID:20045477 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21403024 PMID:21482928 PMID:21800185 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22491866 PMID:22608501 PMID:22781549 PMID:23117491 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:24503614 PMID:25104557 PMID:25525159 PMID:25546130 PMID:25741868 PMID:26159191 PMID:26467025 PMID:26652843 PMID:27632209 PMID:27790088 PMID:27997711 PMID:28492532 PMID:29614680 PMID:30279455 PMID:30528841 PMID:31031559 PMID:31122931 PMID:31600775 PMID:32507413 PMID:33203472 PMID:33980708 PMID:34162492 PMID:34435519 PMID:35896380 More...
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Ctsf
cathepsin F
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 PMID:25274848 PMID:25741868 PMID:26467025 PMID:27120077 PMID:27524508 PMID:28492532 PMID:31692161 More...
NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar
PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26467025 PMID:26681805 PMID:27884173 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:30382371 PMID:31489614 PMID:32399599 PMID:33546218 PMID:34828358 More...
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Tpp1
tripeptidyl peptidase 1
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 OMIM:204500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
OMIM ClinVar MouseDO CTD
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 PMID:10477428 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11241479 PMID:11339651 PMID:11462245 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:15965709 PMID:16199547 PMID:16782851 PMID:16814585 PMID:16880378 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18414213 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22221116 PMID:22245569 PMID:22344438 PMID:22612257 PMID:22752289 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:24767253 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26026925 PMID:26032578 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27407112 PMID:27553520 PMID:27776828 PMID:28165011 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:28717666 PMID:29056246 PMID:29631617 PMID:29655203 PMID:29687370 PMID:29924869 PMID:30119717 PMID:30541466 PMID:30771299 PMID:30792901 PMID:30831263 PMID:31059981 PMID:31069529 PMID:31122803 PMID:31139143 PMID:31283065 PMID:31489614 PMID:31589614 PMID:31741823 PMID:32005694 PMID:32146219 PMID:32329550 PMID:32412666 PMID:32580858 PMID:32855042 PMID:33348105 PMID:33356800 PMID:33377563 PMID:33604240 PMID:34126256 PMID:34849271 PMID:35314707 PMID:36403551 PMID:36539902 PMID:37922835 More...
NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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Clcn3
chloride voltage-gated channel 3
ISS
OMIM:204200
MouseDO
NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
G
Clcn6
chloride voltage-gated channel 6
ISS
OMIM:204200
MouseDO
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
G
Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ISO ISS
ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease OMIM:204200
OMIM ClinVar MouseDO
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:14699076 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19135632 PMID:19489875 PMID:20187884 PMID:20301601 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:24625443 PMID:24827497 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:31926949 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34906470 PMID:35929194 PMID:36011402 PMID:36139381 PMID:36909829 More...
NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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Ppt1
palmitoyl-protein thioesterase 1
ISS
OMIM:204200
MouseDO
NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
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Dnajc5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B
OMIM ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 PMID:22978711 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31919451 More...
NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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Cln5
CLN5, intracellular trafficking protein
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 OMIM:256731 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15207259 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:17607606 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21447811 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25525159 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:31319225 PMID:31493945 PMID:31741823 PMID:32005694 PMID:32302805 PMID:32983231 PMID:33507209 PMID:34906502 PMID:36339300 More...
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
ISO ISS
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 OMIM:601780 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17453415 PMID:17576681 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:23374165 PMID:23516525 PMID:25359263 PMID:25401298 PMID:25590979 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34868216 PMID:35505348 More...
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6
ClinVar
PMID:10338095 PMID:11727201 PMID:12673792 PMID:15986423 PMID:16941474 PMID:17309651 PMID:18524657 PMID:20301601 PMID:21637542 PMID:24156116 PMID:25741868 PMID:25936995 PMID:28492532 PMID:31761138 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A
ClinVar
PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 PMID:23252888 PMID:23430884 PMID:24767253 PMID:25741868 PMID:26499107 PMID:28492532 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Stx6
syntaxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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Syp
synaptophysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A
OMIM ClinVar
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 PMID:19135028 PMID:19201763 PMID:21549341 PMID:21990111 PMID:25359263 PMID:25741868 PMID:26075876 PMID:26115733 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27903347 PMID:28492532 PMID:30285654 PMID:30561534 PMID:31489614 PMID:33875558 PMID:34868216 PMID:35505348 PMID:36435927 More...
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Abhd18
abhydrolase domain containing 18
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,872,299...123,920,987
Ensembl chr 2:123,872,386...123,920,231
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Hspa4l
heat shock protein family A (Hsp70) member 4 like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,740,384...123,793,088
Ensembl chr 2:123,740,384...123,793,084
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Intu
inturned planar cell polarity protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Larp1b
La ribonucleoprotein 1B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,936,057...123,969,254
Ensembl chr 2:123,935,983...123,968,896
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Mfsd8
major facilitator superfamily domain containing 8
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 OMIM:610951 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9177532 PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 PMID:17576681 PMID:18414213 PMID:18850119 PMID:19177532 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25333361 PMID:25439737 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26681805 PMID:27146152 PMID:27848944 PMID:27884173 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:28708303 PMID:28794409 PMID:29389947 PMID:29655203 PMID:29924869 PMID:30382371 PMID:30548430 PMID:31006324 PMID:31216804 PMID:31489614 PMID:31597037 PMID:31618753 PMID:31721179 PMID:31741823 PMID:32005694 PMID:32037395 PMID:32399599 PMID:32581362 PMID:33084218 PMID:33546218 PMID:34828358 PMID:34910516 PMID:35087090 PMID:35917699 More...
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Plk4
polo-like kinase 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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Slc25a31
solute carrier family 25 member 31
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,695,387...123,711,275
Ensembl chr 2:123,695,408...123,710,795
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Cln8
CLN8, transmembrane ER and ERGIC protein
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 OMIM:600143 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 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:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 More...
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Cln8
CLN8, transmembrane ER and ERGIC protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
OMIM ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:23374165 PMID:25326637 PMID:25741868 PMID:26075876 PMID:26467025 PMID:27884173 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29961513 PMID:31741823 PMID:32348865 PMID:36011304 PMID:36912596 More...
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532 PMID:35460704
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased expression:cerebellum:
RGD
PMID:20883783
RGD:8693571
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Npc1
NPC intracellular cholesterol transporter 1
ISS ISO
ClinVar Annotator: match by term: Niemann-Pick disease
MouseDO ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33099109 PMID:35140266 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO ISS
MouseDO RGD
PMID:11567215
RGD:1601483
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Smpd1
sphingomyelin phosphodiesterase 1
susceptibility
ISO ISS
Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:12369017 PMID:12631268 PMID:12712061 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15877209 PMID:16010684 PMID:16264060 PMID:17011332 PMID:17876723 PMID:18625664 PMID:18815062 PMID:19405096 PMID:20111001 PMID:23252888 PMID:23356216 PMID:23430949 PMID:24033266 PMID:24767253 PMID:25741868 PMID:25834946 PMID:25933391 PMID:26049896 PMID:26499107 PMID:26790753 PMID:26981555 PMID:27238910 PMID:27338287 PMID:27435900 PMID:27725636 PMID:28259515 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28703315 PMID:29140481 PMID:29556840 PMID:29995201 PMID:30788890 PMID:30795770 PMID:31122880 PMID:31965297 PMID:32292456 PMID:33675270 PMID:34273913 PMID:35747619 PMID:12556236 More...
RGD:1601336
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
disease_progression
ISO
protein:decreased expression:cerebellum (mouse)
RGD
PMID:16277603
RGD:6482797
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:35140266 PMID:36007526 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15612058 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25301364 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32280632 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34554397 PMID:34867278 PMID:35342016 PMID:35747619 PMID:35883096 PMID:36195244 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:35140266 PMID:36007526 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8225311 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:9536098 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12694237 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17576681 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23724191 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24643943 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26084044 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:33763395 PMID:34273913 PMID:34554397 PMID:34660203 PMID:34867278 PMID:35747619 PMID:35883096 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Abhd3
abhydrolase domain containing 3, phospholipase
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,723,203...1,778,488
Ensembl chr18:1,720,718...1,803,428
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:18591368
RGD:10047095
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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Ankrd29
ankyrin repeat domain 29
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,436,301...3,494,292
Ensembl chr18:3,436,303...3,494,296
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Cables1
Cdk5 and Abl enzyme substrate 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,076,556...3,181,181
Ensembl chr18:3,075,524...3,181,181
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Esco1
establishment of sister chromatid cohesion N-acetyltransferase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,630,560...1,686,803
Ensembl chr18:1,631,954...1,686,942
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Jak2
Janus kinase 2
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Lama3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lipa
lipase A, lysosomal acid type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20557099
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Mib1
MIB E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
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Mir1
microRNA 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,887,537...1,887,623
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Mir133a1
microRNA 133a-1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,885,082...1,885,168
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Npc1
NPC intracellular cholesterol transporter 1
ISO ISS
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form OMIM:257220 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 PMID:9211850 PMID:9245994 PMID:9536098 PMID:9634529 PMID:9744920 PMID:9802331 PMID:9927649 PMID:10419504 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11182931 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11545687 PMID:11754101 PMID:12205649 PMID:12401890 PMID:12408188 PMID:12554680 PMID:12719428 PMID:12813037 PMID:12955717 PMID:12974729 PMID:14639697 PMID:14970192 PMID:15099022 PMID:15130691 PMID:15347664 PMID:15459971 PMID:15465421 PMID:15596783 PMID:15774455 PMID:15937921 PMID:16086131 PMID:16098014 PMID:16126423 PMID:16138904 PMID:16143556 PMID:16199547 PMID:16720792 PMID:16778374 PMID:16802107 PMID:17003072 PMID:17160617 PMID:17576681 PMID:17973331 PMID:17989072 PMID:18081003 PMID:18216017 PMID:19013089 PMID:19206179 PMID:19223215 PMID:19252935 PMID:19307542 PMID:19563754 PMID:19609713 PMID:19718781 PMID:19744920 PMID:19763152 PMID:19900398 PMID:20301473 PMID:20307669 PMID:20489167 PMID:20521171 PMID:20554533 PMID:20718790 PMID:20826119 PMID:20882348 PMID:20981092 PMID:21245028 PMID:21436030 PMID:21550990 PMID:22065762 PMID:22216111 PMID:22269206 PMID:22326530 PMID:22406018 PMID:22476655 PMID:22505584 PMID:22676771 PMID:22704015 PMID:22750297 PMID:22995991 PMID:23142039 PMID:23146215 PMID:23183285 PMID:23427322 PMID:23430855 PMID:23433426 PMID:23453666 PMID:23487299 PMID:23593294 PMID:23597521 PMID:23653225 PMID:23685560 PMID:23711246 PMID:23757202 PMID:23773996 PMID:23774949 PMID:23791518 PMID:23821321 PMID:24001525 PMID:24033266 PMID:24035292 PMID:24178705 PMID:24386122 PMID:24506780 PMID:24570279 PMID:24676439 PMID:24767253 PMID:24891511 PMID:24915861 PMID:24928400 PMID:25071864 PMID:25131710 PMID:25149939 PMID:25236789 PMID:25238906 PMID:25239094 PMID:25326635 PMID:25326637 PMID:25349751 PMID:25425405 PMID:25497598 PMID:25536905 PMID:25590979 PMID:25637190 PMID:25640679 PMID:25741868 PMID:25748406 PMID:25764212 PMID:25873482 PMID:25888393 PMID:25989649 PMID:26019327 PMID:26075876 PMID:26108224 PMID:26206375 PMID:26255038 PMID:26284228 PMID:26338816 PMID:26467025 PMID:26666848 PMID:26771826 PMID:26788393 PMID:26790753 PMID:26830282 PMID:26910362 PMID:26937389 PMID:26939636 PMID:26981555 PMID:26984608 PMID:27016452 PMID:27139891 PMID:27193329 PMID:27234403 PMID:27238017 PMID:27250337 PMID:27256227 PMID:27288778 PMID:27366019 PMID:27378690 PMID:27528516 PMID:27549128 PMID:27550898 PMID:27581084 PMID:27599728 PMID:27706244 PMID:27792009 PMID:27900365 PMID:27923633 PMID:27928380 PMID:27959697 PMID:28105569 PMID:28130309 PMID:28155026 PMID:28167839 PMID:28193631 PMID:28222799 PMID:28328115 PMID:28387450 PMID:28413817 PMID:28472934 PMID:28480683 PMID:28492532 PMID:28666962 PMID:28703315 PMID:28710748 PMID:28776642 PMID:28784760 PMID:28802248 PMID:28808920 PMID:28865947 PMID:28883878 PMID:29100954 PMID:29165669 PMID:29197565 PMID:29429782 PMID:29453517 PMID:29476731 PMID:29631617 PMID:29971198 PMID:30019023 PMID:30119649 PMID:30153451 PMID:30202070 PMID:30285904 PMID:30487145 PMID:30552426 PMID:30556376 PMID:30609409 PMID:30633340 PMID:30665703 PMID:30737051 PMID:30820861 PMID:30923329 PMID:30985853 PMID:31030438 PMID:31130284 PMID:31139477 PMID:31296176 PMID:31497485 PMID:31509197 PMID:31543266 PMID:31589614 PMID:31635081 PMID:31639011 PMID:31699992 PMID:31743419 PMID:31754021 PMID:31980526 PMID:32060698 PMID:32138288 PMID:32144825 PMID:32222928 PMID:32248828 PMID:32289814 PMID:32317543 PMID:32482919 PMID:32488064 PMID:32544384 PMID:32709131 PMID:32732226 PMID:32745579 PMID:32860008 PMID:32921771 PMID:32931663 PMID:33021976 PMID:33027564 PMID:33099109 PMID:33138774 PMID:33139814 PMID:33163944 PMID:33258288 PMID:33624863 PMID:33947371 PMID:33990640 PMID:34023347 PMID:34296265 PMID:34303826 PMID:34489640 PMID:34712575 PMID:34799641 PMID:35038048 PMID:35086560 PMID:35140266 PMID:35408815 PMID:35614200 PMID:35861376 PMID:35892469 PMID:35982159 PMID:36007526 PMID:36307859 PMID:36325261 PMID:36636588 PMID:37032242 PMID:37480097 PMID:38131230 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16757520 PMID:17470133 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26666848 PMID:26981555 PMID:27792009 PMID:28095804 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33673364 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Rbbp8
RB binding protein 8, endonuclease
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Riok3
RIO kinase 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,327,776...3,353,350
Ensembl chr18:3,327,776...3,353,343
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Rmc1
regulator of MON1-CCZ1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532
NCBI chr18:3,359,848...3,379,764
Ensembl chr18:3,359,832...3,380,795
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 PMID:27338287 PMID:28492532 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Syndig1l
synapse differentiation inducing 1-like
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:25741868
NCBI chr 6:104,318,096...104,344,989
Ensembl chr 6:104,323,424...104,344,891
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Tmem241
transmembrane protein 241
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,168,072...3,318,340
Ensembl chr18:3,168,067...3,318,293
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Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25558065 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:25741868
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16167124 PMID:16199547 PMID:16757520 PMID:17470133 PMID:17576681 PMID:18081003 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24082139 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26206375 PMID:26338816 PMID:26666848 PMID:26981555 PMID:27271431 PMID:27792009 PMID:28095804 PMID:28105569 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33673364 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type D
ClinVar OMIM
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 PMID:16126423 PMID:16778374 PMID:20301473 PMID:20718790 PMID:25741868 PMID:26666848 PMID:26984608 PMID:28222799 PMID:28492532 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral
ClinVar
PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23420949 PMID:23430949 PMID:25741868 PMID:26981555 PMID:28492532 PMID:28703315 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Ahr
aryl hydrocarbon receptor
ISO
RGD
PMID:23508103
RGD:405866380
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ar
androgen receptor
ameliorates
ISO
RGD
PMID:36555703
RGD:407424611
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atg7
autophagy related 7
treatment
IEP
RGD
PMID:31787541
RGD:25823196
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Becn1
beclin 1
treatment
IEP
RGD
PMID:31787541
RGD:25823196
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum:
RGD
PMID:27639593
RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Creb1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:28770225
RGD:401940144
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased expression:serum:
RGD
PMID:23730648
RGD:14747013
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpt
glutamic--pyruvic transaminase
ISO
protein:increased expression:liver,serum
RGD
PMID:18710424
RGD:14975250
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased expression:liver,serum
RGD
PMID:18710424
RGD:14975250
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity susceptibility
ISO
RGD
PMID:29861476 PMID:31064654
RGD:14985251 , RGD:14985252
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ngf
nerve growth factor
ISO
protein:increased expression:plasma
RGD
PMID:22434756
RGD:401976546
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
severity
ISO
cholic acid fed FXR-/- mouse
RGD
PMID:12971955
RGD:15045573
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Fcgr2b
Fc gamma receptor 2B
IEP
mRNA:increased expression:heart, blood
RGD
PMID:25580480
RGD:11344961
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency
ClinVar
PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:28670130 PMID:31922725 PMID:32632536 PMID:37480112 More...
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Stx3
syntaxin 3
ISO
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease
OMIM ClinVar
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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Alb
albumin
treatment
IEP
RGD
PMID:25162205
RGD:14694843
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Txnip
thioredoxin interacting protein
ISS
MouseDO
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Ankdd1b
ankyrin repeat and death domain containing 1B
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,750,301...27,814,291
Ensembl chr 2:27,750,987...27,813,734
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Ankrd31
ankyrin repeat domain 31
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:15155903
RGD:7241825
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Cert1
ceramide transporter 1
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074
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Fam169a
family with sequence similarity 169, member A
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,384,162...28,441,361
Ensembl chr 2:28,383,784...28,438,910
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Gcnt4
glucosaminyl (N-acetyl) transferase 4
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,253,325...28,283,082
Ensembl chr 2:28,252,860...28,283,082
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Gfm2
GTP dependent ribosome recycling factor mitochondrial 2
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:7550345 PMID:18758829 PMID:28492532
NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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Hexb
hexosaminidase subunit beta
ISO ISS
ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease OMIM:268800 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1487253 PMID:1531140 PMID:1532910 PMID:1720305 PMID:1723749 PMID:1975561 PMID:2139865 PMID:2147027 PMID:2147031 PMID:2170400 PMID:2522450 PMID:2921040 PMID:2948136 PMID:2973515 PMID:3014997 PMID:3156493 PMID:7550345 PMID:7557963 PMID:7633435 PMID:8045559 PMID:8076944 PMID:8106452 PMID:8162015 PMID:8357844 PMID:8593535 PMID:8950198 PMID:9401004 PMID:9475608 PMID:9536098 PMID:9562328 PMID:9694901 PMID:10982028 PMID:11329289 PMID:11897243 PMID:12027830 PMID:12166653 PMID:12706724 PMID:14724290 PMID:16169011 PMID:16199547 PMID:17015493 PMID:17237499 PMID:17576681 PMID:18758829 PMID:19595619 PMID:19763152 PMID:19823769 PMID:19898952 PMID:20307669 PMID:20798201 PMID:20926324 PMID:21150067 PMID:21483992 PMID:21567908 PMID:22191674 PMID:22406018 PMID:22789865 PMID:22848519 PMID:23010210 PMID:23046579 PMID:23113155 PMID:23127958 PMID:23158871 PMID:23418865 PMID:23759947 PMID:23886397 PMID:24022928 PMID:24033266 PMID:24082139 PMID:24263030 PMID:24356898 PMID:24461908 PMID:24503148 PMID:24613245 PMID:24915922 PMID:25525159 PMID:25640679 PMID:25736553 PMID:25741868 PMID:25741905 PMID:26582265 PMID:27021291 PMID:27142713 PMID:27435318 PMID:27629047 PMID:27682710 PMID:27697305 PMID:28281504 PMID:28476546 PMID:28492532 PMID:28895707 PMID:29448188 PMID:29451896 PMID:30065954 PMID:30075786 PMID:30548430 PMID:31319225 PMID:31367523 PMID:31589614 PMID:31852446 PMID:31974414 PMID:31995250 PMID:32036093 PMID:32860008 PMID:33176815 PMID:33407268 PMID:33673364 PMID:33742171 PMID:33824075 PMID:34210542 PMID:34226107 PMID:34554397 PMID:34856081 PMID:35186388 PMID:35711818 PMID:36407556 PMID:36628841 PMID:2147027 More...
RGD:1599422
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Nsa2
NSA2 ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388
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Poc5
POC5 centriolar protein
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805
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Polk
DNA polymerase kappa
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313
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Hexb
hexosaminidase subunit beta
ISO
ClinVar Annotator: match by term: Sandhoff disease, adult type
ClinVar
PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 PMID:7557963 PMID:8357844 PMID:8950198 PMID:9562328 PMID:12027830 PMID:12166653 PMID:17237499 PMID:17251047 PMID:20798201 PMID:20926324 PMID:21150067 PMID:22789865 PMID:23010210 PMID:23127958 PMID:23759947 PMID:23886397 PMID:24263030 PMID:25736553 PMID:25741868 PMID:28492532 PMID:29448188 More...
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Enc1
ectodermal-neural cortex 1
ISO
ClinVar Annotator: match by term: Sandhoff disease, infantile type
ClinVar
PMID:7633435
NCBI chr 2:28,550,670...28,562,591
Ensembl chr 2:28,550,464...28,562,713
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Hexb
hexosaminidase subunit beta
ISO
ClinVar Annotator: match by term: Sandhoff disease, infantile type
ClinVar
PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 PMID:10982028 PMID:18758829 PMID:19823769 PMID:21483992 PMID:23010210 PMID:23046579 PMID:24613245 PMID:25741868 PMID:26582265 PMID:28492532 PMID:29448188 More...
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Hexb
hexosaminidase subunit beta
ISO
ClinVar Annotator: match by term: Sandhoff disease, juvenile type
ClinVar
PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 PMID:2147031 PMID:2170400 PMID:2522450 PMID:3014997 PMID:7557963 PMID:8106452 PMID:17015493 PMID:17237499 PMID:20798201 PMID:21150067 PMID:22789865 PMID:23127958 PMID:23886397 PMID:24263030 PMID:24915922 PMID:25736553 PMID:25741868 PMID:27021291 PMID:27142713 PMID:28492532 PMID:29448188 More...
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis
CTD OMIM ClinVar
PMID:8488843 PMID:9279208 PMID:9360638 PMID:11095479 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Fitm2
fat storage-inducing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Siddiqi syndrome
OMIM ClinVar
PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795
NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Fatty aldehyde dehydrogenase deficiency | ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 PMID:9536098 PMID:9829906 PMID:10384396 PMID:10577908 PMID:10792573 PMID:10854114 PMID:11408337 PMID:15241804 PMID:15931689 PMID:16199547 PMID:16536828 PMID:16546179 PMID:16837225 PMID:16903323 PMID:17576681 PMID:17902024 PMID:17971613 PMID:17998529 PMID:18035827 PMID:19124283 PMID:19197545 PMID:19965611 PMID:20049467 PMID:20883264 PMID:21531120 PMID:21872273 PMID:21968182 PMID:22397046 PMID:23034980 PMID:23450279 PMID:24033266 PMID:25047030 PMID:25532748 PMID:25641190 PMID:25741868 PMID:25855245 PMID:27717089 PMID:28025403 PMID:28257279 PMID:28471629 PMID:28492532 PMID:29071827 PMID:29130490 PMID:29159939 PMID:29183715 PMID:29704247 PMID:30157790 PMID:30372562 PMID:30925032 PMID:31273323 PMID:31953843 PMID:32005694 PMID:32506993 More...
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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Krt14
keratin 14
ISO
ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia
ClinVar
PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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Asah1
N-acylsphingosine amidohydrolase 1
susceptibility
ISO
RGD
PMID:11241842
RGD:734977
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Sumf1
sulfatase modifying factor 1
ISO
Multiple Sulfatase Deficiency Disease
RGD
PMID:12757705
RGD:1599192
NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708
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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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Abcc2
ATP binding cassette subfamily C member 2
IEP
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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Abcc3
ATP binding cassette subfamily C member 3
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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Acaca
acetyl-CoA carboxylase alpha
IDA
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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Acacb
acetyl-CoA carboxylase beta
IDA
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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Acat1
acetyl-CoA acetyltransferase 1
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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Acox1
acyl-CoA oxidase 1
treatment
IEP
RGD
PMID:30298849
RGD:401960083
NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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Adipoq
adiponectin, C1Q and collagen domain containing
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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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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Adk
adenosine kinase
ISS
OMIM:228100
MouseDO
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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Adrb2
adrenoceptor beta 2
ISO
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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Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
RGD
PMID:17332477
RGD:14349048
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
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Akt1
AKT serine/threonine kinase 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32045588 PMID:25160038
RGD:14700926
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alpl
alkaline phosphatase, biomineralization associated
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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Angptl4
angiopoietin-like 4
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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Apoa1
apolipoprotein A1
treatment
IEP
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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Apob
apolipoprotein B
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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Apoe
apolipoprotein E
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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Atf4
activating transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Atf6
activating transcription factor 6
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Atp5if1
ATP synthase inhibitory factor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 5:144,738,950...144,742,668
Ensembl chr 5:144,738,950...144,742,668
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303181
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Car3
carbonic anhydrase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280
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Cat
catalase
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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Ccl2
C-C motif chemokine ligand 2
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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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...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd163
CD163 molecule
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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Cd36
CD36 molecule
ISO
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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Cebpb
CCAAT/enhancer binding protein beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469900
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cndp2
carnosine dipeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15787813
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cpe
carboxypeptidase E
ISO
mRNA:decreased expression:stomach (human)
RGD
PMID:24716593
RGD:405650681
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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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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Creb1
cAMP responsive element binding protein 1
ISO
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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Ctsb
cathepsin B
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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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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Cycs
cytochrome c, somatic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10860543
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11929713
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27036855
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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
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
G
Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23391614
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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
G
Dhrs7
dehydrogenase/reductase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 6:91,332,259...91,347,856
Ensembl chr 6:91,251,323...91,347,892
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
G
Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:14608355
RGD:734934
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Ern1
endoplasmic reticulum to nucleus signaling 1
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008134
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F2r
coagulation factor II (thrombin) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008134 PMID:21907177 PMID:22841818
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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
G
Fgf21
fibroblast growth factor 21
severity
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:24184811 PMID:32195457
RGD:25330354
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
G
Fgfr1
Fibroblast growth factor receptor 1
severity
ISO
RGD
PMID:32195457
RGD:25330354
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fis1
fission, mitochondrial 1
IEP
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Foxa1
forkhead box A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469900
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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G6pc1
glucose-6-phosphatase catalytic subunit 1
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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Gck
glucokinase
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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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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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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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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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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Gpx1
glutathione peroxidase 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10860543 PMID:30298849
RGD:401960083
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26042203
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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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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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17116638
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Has3
hyaluronan synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27042213
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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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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Hhex
hematopoietically expressed homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469900
NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042
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Hm13
histocompatibility minor 13
ISO
associated with hepatitis
RGD
PMID:27142248
RGD:40924634
NCBI chr 3:141,145,792...141,183,557
Ensembl chr 3:141,145,782...141,184,703
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Hsd17b13
hydroxysteroid (17-beta) dehydrogenase 13
ISO
ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM
ClinVar
PMID:29562163 PMID:34930143
NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166
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Hspa5
heat shock protein family A (Hsp70) member 5
treatment
IEP ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver:
RGD
PMID:23647685 PMID:27813192
RGD:11354957 , RGD:401842386
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISS
OMIM:228100
MouseDO
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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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Il13ra2
interleukin 13 receptor subunit alpha 2
IMP
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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Il18
interleukin 18
IDA
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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Il1b
interleukin 1 beta
IEP ISO
protein:increased expression:serum mRNA:decreased expression:stomach (human)
RGD
PMID:17436085 PMID:24716593
RGD:1626661 , RGD:405650681
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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Ins2
insulin 2
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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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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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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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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Jak2
Janus kinase 2
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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Keap1
Kelch-like ECH-associated protein 1
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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Ldlr
low density lipoprotein receptor
IMP ISS ISO
OMIM:228100 CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:25554529 PMID:36108984 PMID:29459263
RGD:13703129
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Ldlrem1Dlli
low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli
IMP
RGD
PMID:29459263
RGD:13703129
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Lep
leptin
severity
IEP ISO ISS
associated with morbid obesity;protein:decreased exprssion:serum (human) CTD Direct Evidence: marker/mechanism OMIM:228100
CTD MouseDO RGD
PMID:12661780 PMID:19716478 PMID:24525044 PMID:25554529 PMID:27071101 PMID:27712037 PMID:28281237 More...
RGD:21201250
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25367288 PMID:29743445
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lgals3
galectin 3
ISS
OMIM:228100
MouseDO
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
G
Lrp6
LDL receptor related protein 6
ISS
OMIM:228100
MouseDO
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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Map3k8
mitogen-activated protein kinase kinase kinase 8
ameliorates
ISO
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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Mapk8
mitogen-activated protein kinase 8
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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Mat1a
methionine adenosyltransferase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12060674
NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
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Mc4r
melanocortin 4 receptor
ISS
OMIM:228100
MouseDO
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045588
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mfn2
mitofusin 2
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
G
Mir10b
microRNA 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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Mir125a
microRNA 125a
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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Mir134
microRNA 134
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,748,908...128,748,980
G
Mir139
microRNA 139
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
G
Mir148b
microRNA 148b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 7:134,421,398...134,421,494
Ensembl chr 7:134,421,398...134,421,494
G
Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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Mir154
microRNA 154
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
G
Mir17
microRNA 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
G
Mir183
microRNA 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
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Mir219a1
microRNA 219a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
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
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
G
Mir320a
microRNA 320a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30125006
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir34a
microRNA 34a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23834033
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
G
Mir410
microRNA 410
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
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Mir449c
microRNA 449c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 2:44,669,179...44,669,277
Ensembl chr 2:44,669,179...44,669,277
G
Mir503
microRNA 503
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373
G
Mir542
microRNA 542
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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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
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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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24210820
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:21285402
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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
G
Nox4
NADPH oxidase 4
treatment
IEP
RGD
PMID:30298849
RGD:401960083
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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
G
Nr0b2
nuclear receptor subfamily 0, group B, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
G
Nr1d1
nuclear receptor subfamily 1, group D, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
G
Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23651738
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25182422
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
G
Nr3c2
nuclear receptor subfamily 3, group C, member 2
treatment
IEP
RGD
PMID:30298849
RGD:401960083
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
G
Nrep
neuronal regeneration related protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr18:25,017,069...25,046,593
Ensembl chr18:25,017,083...25,046,591
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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Opa1
OPA1, mitochondrial dynamin like GTPase
IEP ISO
protein:increased expression:liver (rat) ClinVar Annotator: match by term: Hepatic steatosis
ClinVar RGD
PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27890673 PMID:28492532 PMID:31521625 PMID:32420686 PMID:37196654 PMID:24663492 More...
RGD:12453042
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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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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Pex5
peroxisomal biogenesis factor 5
ISO
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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Plau
plasminogen activator, urokinase
ISS
OMIM:228100
MouseDO
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plin2
perilipin 2
ISO
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16439473 PMID:17484887
RGD:1625752
NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319
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Pnpla3
patatin-like phospholipase domain containing 3
severity
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatic steatosis 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 ClinVar RGD
PMID:21381068 PMID:24033266 PMID:24917523 PMID:25678388 PMID:25741868 PMID:26200108 PMID:28073161 PMID:29158695 PMID:25284145 PMID:25678388 PMID:21319195 PMID:23564580 More...
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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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:167377
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26945512
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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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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Ppard
peroxisome proliferator-activated receptor delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23851158
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
treatment
IEP
RGD
PMID:15112352 PMID:30298849
RGD:1580685 , RGD:401960083
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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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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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
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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Prkcd
protein kinase C, delta
ISO
RGD
PMID:17596878
RGD:1642523
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prmt7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Hepatic steatosis
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
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Pten
phosphatase and tensin homolog
IEP ISS ISO
protein:decreased expression:liver OMIM:228100 CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:27022031 PMID:18166358 PMID:15199412
RGD:2292522 , RGD:1302555
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
mRNA,protein:increased expression:liver
RGD
PMID:21643627
RGD:5135028
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptma
prothymosin alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15885234
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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Rela
RELA proto-oncogene, NF-kB subunit
IDA
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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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26769846
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21661758
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina6
serpin family A member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18641190 PMID:29684222
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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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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Sirt1
sirtuin 1
ISO ISS
associated with Obesity OMIM:228100 CTD Direct Evidence: marker/mechanism|therapeutic
MouseDO CTD RGD
PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 PMID:21540183 More...
RGD:9585751
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt6
sirtuin 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28536482
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Sirt7
sirtuin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24210820
NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
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Slc13a5
solute carrier family 13 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26303333
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc22a8
solute carrier family 22 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
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Slc27a4
solute carrier family 27 member 4
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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Slc2a2
solute carrier family 2 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12048068
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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Slco1a4
solute carrier organic anion transporter family, member 1a4
IEP
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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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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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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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27349771
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10860543
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24469900 PMID:27813192
RGD:401842386
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
ISO
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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Sts
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Suox
sulfite oxidase
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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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008134 PMID:21907177
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18641190 PMID:27022031
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23348005
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Txn1
thioredoxin 1
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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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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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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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097666
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Adpgk
ADP-dependent glucokinase
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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Arih1
ariadne RBR E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
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Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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Cd276
Cd276 molecule
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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Celf6
CUGBP, Elav-like family member 6
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041
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Gm2a
ganglioside GM2 activator
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
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Gramd2a
GRAM domain containing 2A
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842
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Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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Hexa
hexosaminidase subunit alpha
ISO ISS
ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult OMIM:272800 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 PMID:1301938 PMID:1301958 PMID:1302612 PMID:1307230 PMID:1318511 PMID:1322637 PMID:1384323 PMID:1387685 PMID:1415222 PMID:1483696 PMID:1532289 PMID:1827944 PMID:1827945 PMID:1830584 PMID:1831451 PMID:1832817 PMID:1833974 PMID:1837283 PMID:1996872 PMID:2137287 PMID:2139660 PMID:2140574 PMID:2141777 PMID:2144098 PMID:2145759 PMID:2278539 PMID:2294750 PMID:2521932 PMID:2522660 PMID:2522679 PMID:2531748 PMID:2824459 PMID:2837213 PMID:2848800 PMID:2934978 PMID:2954459 PMID:2961848 PMID:2970528 PMID:2973311 PMID:2973464 PMID:3362213 PMID:3375249 PMID:3754980 PMID:3837850 PMID:6236221 PMID:6959123 PMID:7063277 PMID:7551830 PMID:7717398 PMID:7749419 PMID:7827134 PMID:7837766 PMID:7858168 PMID:7898712 PMID:7902672 PMID:7951261 PMID:8044648 PMID:8081943 PMID:8111418 PMID:8123671 PMID:8230592 PMID:8257995 PMID:8326491 PMID:8328462 PMID:8328470 PMID:8343225 PMID:8352284 PMID:8397824 PMID:8444467 PMID:8445615 PMID:8484765 PMID:8488832 PMID:8490625 PMID:8581357 PMID:8672428 PMID:8673609 PMID:8730294 PMID:8757036 PMID:8995368 PMID:9090523 PMID:9090529 PMID:9150157 PMID:9153525 PMID:9169471 PMID:9222766 PMID:9272736 PMID:9338583 PMID:9375850 PMID:9401008 PMID:9536098 PMID:9603435 PMID:9694901 PMID:9851891 PMID:10083731 PMID:10464605 PMID:10571007 PMID:10584247 PMID:10852376 PMID:11161796 PMID:11317368 PMID:11392526 PMID:11463833 PMID:11596984 PMID:11707436 PMID:12027830 PMID:12108829 PMID:12180151 PMID:12202988 PMID:12689698 PMID:14566483 PMID:14577003 PMID:14648242 PMID:14685153 PMID:14724290 PMID:14727180 PMID:15065574 PMID:15108204 PMID:15714079 PMID:16088929 PMID:16199547 PMID:16352452 PMID:16434676 PMID:16698036 PMID:16948947 PMID:17001642 PMID:17015493 PMID:17237499 PMID:17259242 PMID:17576681 PMID:18358410 PMID:18490185 PMID:18648917 PMID:19091716 PMID:19156839 PMID:19644708 PMID:19815695 PMID:19858779 PMID:20100466 PMID:20301350 PMID:20301397 PMID:20363167 PMID:20672374 PMID:20926324 PMID:21228398 PMID:21567908 PMID:21796138 PMID:21937992 PMID:21967858 PMID:22006919 PMID:22344438 PMID:22390110 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23035047 PMID:23359698 PMID:23820084 PMID:23852624 PMID:24033266 PMID:24088041 PMID:24374108 PMID:24498621 PMID:24518553 PMID:24583203 PMID:24767253 PMID:24940364 PMID:24953648 PMID:25041270 PMID:25287655 PMID:25326635 PMID:25525159 PMID:25557439 PMID:25606403 PMID:25640679 PMID:25741868 PMID:25741876 PMID:25860343 PMID:26350204 PMID:26467025 PMID:26633545 PMID:27033294 PMID:27054707 PMID:27362553 PMID:27682588 PMID:27896118 PMID:27959697 PMID:28359061 PMID:28492532 PMID:28503624 PMID:28739864 PMID:29214523 PMID:29451896 PMID:29482223 PMID:29973161 PMID:30506202 PMID:31069529 PMID:31076878 PMID:31130284 PMID:31242539 PMID:31293106 PMID:31367523 PMID:31388111 PMID:31428437 PMID:31839005 PMID:32529985 PMID:32968423 PMID:33083013 PMID:33240792 PMID:33426165 PMID:33547378 PMID:33811753 PMID:34288098 PMID:34302356 PMID:34426522 PMID:34440436 PMID:34554397 PMID:34800199 PMID:35186388 PMID:36135330 PMID:36907859 PMID:28974375 More...
RGD:13673908
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Insyn1
inhibitory synaptic factor 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
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Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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Myo9a
myosin IXA
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
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Neo1
neogenin 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
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Nptn
neuroplastin
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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Nr2e3
nuclear receptor subfamily 2, group E, member 3
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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Parp6
poly (ADP-ribose) polymerase family, member 6
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108
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Pkm
pyruvate kinase M1/2
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Rec114
REC114 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
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Senp8
SUMO peptidase family member, NEDD8 specific
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
G
Tbc1d21
TBC1 domain family, member 21
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
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Tmem202
transmembrane protein 202
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Tay-sachs disease, juvenile
ClinVar
PMID:1301189 PMID:25741868
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant
ClinVar
PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 PMID:2521932 PMID:2961848 PMID:2973311 PMID:7551830 PMID:8081943 PMID:8111418 PMID:8730294 PMID:9272736 PMID:10584247 PMID:14577003 PMID:16088929 PMID:17015493 PMID:18490185 PMID:20100466 PMID:20301350 PMID:22441121 PMID:22789865 PMID:23359698 PMID:24088041 PMID:24953648 PMID:25041270 PMID:25741868 PMID:25741876 PMID:27896118 PMID:28359061 PMID:28492532 PMID:30506202 PMID:31367523 PMID:34288098 More...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Ifit1
interferon-induced protein with tetratricopeptide repeats 1
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435
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Ifit2
interferon-induced protein with tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
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Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
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Lipa
lipase A, lysosomal acid type
ISO ISS
ClinVar Annotator: match by term: Wolman disease
ClinVar MouseDO OMIM RGD
PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:8956047 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28391883 PMID:28468868 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30249571 PMID:30270055 PMID:30665623 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:31412917 PMID:32041611 PMID:32382506 PMID:33568092 PMID:6097111 PMID:8146180 More...
RGD:1600621 , RGD:1600620
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis
ClinVar
PMID:7751811 PMID:7759067 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:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26350820 PMID:27423329 PMID:28492532 PMID:28502505 PMID:28502515 PMID:29196158 PMID:29958253 PMID:31182375 PMID:31392116 PMID:32041611 More...
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
G
Abcg5
ATP binding cassette subfamily G member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11138003
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
G
Ldlr
low density lipoprotein receptor
IMP
DNA:mutation:exon:478T > A(rat)
RGD
PMID:22293196
RGD:12910105
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Nlrp3
NLR family, pyrin domain containing 3
exacerbates
ISO
associated with atherosclerosis
RGD
PMID:30354239
RGD:126925206
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Soat1
sterol O-acyltransferase 1
ISO
associated with atherosclerosis
RGD
PMID:30354239
RGD:126925206
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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