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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:neuronal ceroid lipofuscinosis
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Accession:DOID:14503 term browser browse the term
Definition:A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Synonyms:exact_synonym: Batten Mayou Disease;   Ceroid Storage Disease;   Ceroid Storage Diseases;   Infantile Neuronal Ceroid Lipofuscinosis;   Jansky Bielschowsky Disease;   Juvenile Cerebroretinal Degeneration;   Juvenile Cerebroretinal Degenerations;   Kuf Disease;   Kuf's Diseases;   Kuf's disease;   Kufs Disease Autosomal Recessive;   Kufs Type Neuronal Ceroid Lipofuscinosis;   Kufs disease;   Late-Infantile Neuronal Ceroid Lipofuscinosis;   Lipofuscin Storage Disease;   adult neuronal ceroid lipofuscinosis;   amaurotic idiocy, adult type;   hereditary ceroid lipofuscinosis;   lipofuscin storage diseases;   neuronal ceroid lipofuscinoses;   neuronal ceroid lipofuscinosis, adult type
 narrow_synonym: neuronal ceroid lipofuscinosis, 12
 primary_id: MESH:D009472
 alt_id: OMIA:001503;   OMIA:001552
 xref: GARD:10739;   NCI:C61257;   OMIM:PS256730;   ORDO:216;   ORDO:79262
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Adrm1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,168,982...181,173,528
Ensembl chr 1:181,168,916...181,173,528
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G 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
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
JBrowse link
G 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
JBrowse link
G Arsg arylsulfatase G ISO Lysosomal storage disease, ARSG related OMIA PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 More... NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,035,522...197,088,624
Ensembl chr 1:197,035,633...197,088,092
JBrowse link
G 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
JBrowse link
G Cables2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
JBrowse link
G 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: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G 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:9536098 PMID:9662406 PMID:10953198 PMID:11727201 PMID:11971870 More... NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
RGD
PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 More... RGD:1358512, RGD:1358512, RGD:11064442 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
JBrowse link
G 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
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G 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
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:17576681 More... NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G 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
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 More... NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G 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
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,446,067...196,471,542
Ensembl chr 1:196,446,287...196,471,541
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
JBrowse link
G 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
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G 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
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
JBrowse link
G 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
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G 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:25976102 PMID:27742667 PMID:28492532 PMID:30295347 More... NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
JBrowse link
G 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 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
JBrowse link
G 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
JBrowse link
G LOC686660 similar to olfactory receptor 692 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,715,764...159,716,744
Ensembl chr 1:159,715,755...159,716,744
JBrowse link
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
JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,614,585...197,648,414
Ensembl chr 1:197,614,687...197,648,416
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Mir1b microRNA 1b ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
G Mir3582 microRNA 3582 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
JBrowse link
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
JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
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
JBrowse link
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
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,606,215...167,656,377
Ensembl chr 3:167,606,215...167,656,377
JBrowse link
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 JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Olr158 olfactory receptor 158 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
JBrowse link
G Olr163 olfactory receptor 163 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
JBrowse link
G Olr170 olfactory receptor 170 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
JBrowse link
G Olr172 olfactory receptor 172 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
JBrowse link
G Olr184 olfactory receptor 184 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,412,927...159,413,880
Ensembl chr 1:159,412,927...159,413,880
JBrowse link
G Olr188 olfactory receptor 188 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
JBrowse link
G Olr190 olfactory receptor 190 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
JBrowse link
G Olr193 olfactory receptor 193 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,514,613...159,515,554
Ensembl chr 1:159,514,558...159,520,975
JBrowse link
G Olr194 olfactory receptor 194 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
JBrowse link
G Olr197 olfactory receptor 197 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
JBrowse link
G Olr198 olfactory receptor 198 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
JBrowse link
G Olr202 olfactory receptor 202 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
JBrowse link
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 More... NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
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
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
JBrowse link
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
JBrowse link
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
JBrowse link
G Rbbp8nl RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
G Rps21-ps1 ribosomal protein S21, pseudogene 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
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 1:181,238,449...181,271,931
Ensembl chr 1:181,238,468...181,274,781
JBrowse link
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
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,493,975...168,497,616 JBrowse link
G Slco4a1 solute carrier organic anion transporter family, member 4a1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
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
JBrowse link
G Sod2 superoxide dismutase 2 ISO
ISS
MouseDO
RGD
PMID:12946273 RGD:1581253 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,435,375...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 More... NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
JBrowse link
G Ythdf1 YTH N(6)-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 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
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
JBrowse link
neuronal ceroid lipofuscinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fis1 fission, mitochondrial 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More... RGD:734785 NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
G 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
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
neuronal ceroid lipofuscinosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 OMIM
ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:25298308 PMID:25741868 More... NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
neuronal ceroid lipofuscinosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 OMIM
ClinVar
PMID:16862116 PMID:16950801 PMID:17698705 PMID:18245784 PMID:18392865 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
neuronal ceroid lipofuscinosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
JBrowse link
neuronal ceroid lipofuscinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
JBrowse link
neuronal ceroid lipofuscinosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride voltage-gated channel 3 ISS OMIM:204200 MouseDO NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
JBrowse link
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
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO 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
ClinVar
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISS OMIM:204200 MouseDO NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
neuronal ceroid lipofuscinosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:22073189 PMID:22235333 PMID:22978711 More... NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
neuronal ceroid lipofuscinosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 OMIM
ClinVar
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
JBrowse link
neuronal ceroid lipofuscinosis 6A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 More... NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 ClinVar PMID:10338095 PMID:11727201 PMID:12673792 PMID:15986423 PMID:20301601 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
neuronal ceroid lipofuscinosis 6B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
neuronal ceroid lipofuscinosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Larp1b La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:123,936,074...123,969,254
Ensembl chr 2:123,935,983...123,968,896
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 OMIM
ClinVar
PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 PMID:17576681 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:123,802,512...123,820,942
Ensembl chr 2:123,802,512...123,820,942
JBrowse link
G 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
JBrowse link
neuronal ceroid lipofuscinosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 OMIM
ClinVar
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
JBrowse link
neuronal ceroid lipofuscinosis 8 northern epilepsy variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        lipid metabolism disorder 1161
          lipid storage disease 654
            neuronal ceroid lipofuscinosis 184
              neuronal ceroid lipofuscinosis 1 10
              neuronal ceroid lipofuscinosis 10 1
              neuronal ceroid lipofuscinosis 11 1
              neuronal ceroid lipofuscinosis 13 1
              neuronal ceroid lipofuscinosis 2 2
              neuronal ceroid lipofuscinosis 3 4
              neuronal ceroid lipofuscinosis 4 1
              neuronal ceroid lipofuscinosis 5 1
              neuronal ceroid lipofuscinosis 6A 8
              neuronal ceroid lipofuscinosis 6B 1
              neuronal ceroid lipofuscinosis 7 7
              neuronal ceroid lipofuscinosis 8 1
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
              neuronal ceroid lipofuscinosis 9 0
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            lipid metabolism disorder 1161
              lipid storage disease 654
                neuronal ceroid lipofuscinosis 184
                  neuronal ceroid lipofuscinosis 1 10
                  neuronal ceroid lipofuscinosis 10 1
                  neuronal ceroid lipofuscinosis 11 1
                  neuronal ceroid lipofuscinosis 13 1
                  neuronal ceroid lipofuscinosis 2 2
                  neuronal ceroid lipofuscinosis 3 4
                  neuronal ceroid lipofuscinosis 4 1
                  neuronal ceroid lipofuscinosis 5 1
                  neuronal ceroid lipofuscinosis 6A 8
                  neuronal ceroid lipofuscinosis 6B 1
                  neuronal ceroid lipofuscinosis 7 7
                  neuronal ceroid lipofuscinosis 8 1
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
                  neuronal ceroid lipofuscinosis 9 0
paths to the root