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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;   Jansky Bielschowsky Disease;   Kuf Disease;   Kuf's Diseases;   Kuf's disease;   Kufs Disease Autosomal Recessive;   Kufs Type Neuronal Ceroid Lipofuscinosis;   Kufs disease;   Lipofuscin Storage Disease;   hereditary ceroid lipofuscinosis;   lipofuscin storage diseases;   neuronal ceroid lipofuscinoses
 narrow_synonym: Infantile Neuronal Ceroid Lipofuscinosis;   Juvenile Cerebroretinal Degeneration;   Juvenile Cerebroretinal Degenerations;   Late-Infantile Neuronal Ceroid Lipofuscinosis;   adult neuronal ceroid lipofuscinosis;   amaurotic idiocy, adult type;   neuronal ceroid lipofuscinosis, 12;   neuronal ceroid lipofuscinosis, adult type
 primary_id: MESH:D009472
 alt_id: OMIA:001503;   OMIA:001552
 xref: EFO:0003111;   EFO:0003112;   GARD:10739;   MONDO:0015674;   MONDO:0016295;   NCI:C61257;   OMIM:PS256730;   ORDO:216;   ORDO:79262
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chrNW_004936514:11,068,762...11,070,162
Ensembl chrNW_004936514:11,068,762...11,070,162 		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 chrNW_004936514:9,923,956...9,928,168
Ensembl chrNW_004936514:9,923,896...9,928,170 		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 chrNW_004936888:689,673...735,119
Ensembl chrNW_004936888:689,727...733,541 		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 chrNW_004936842:452,682...476,533
Ensembl chrNW_004936842:452,681...476,513 		JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004936501:11,968,982...11,972,584 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 chrNW_004936514:10,627,700...10,641,157
Ensembl chrNW_004936514:10,627,639...10,640,869 		JBrowse link
G Arfip2 ADP ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:526,467...531,278
Ensembl chrNW_004936842:524,182...530,540 		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 chrNW_004936514:10,956,111...10,964,756
Ensembl chrNW_004936514:10,955,829...10,964,762 		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 chrNW_004936615:1,012,009...1,103,468
Ensembl chrNW_004936615:1,048,536...1,102,242 		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 chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936794:567,462...569,195
Ensembl chrNW_004936794:568,567...569,139 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism
Neuronal ceroid lipofuscinosis, 12		 CTD
OMIA		 PMID:1471473 PMID:1609844 PMID:12061538 PMID:15691038 PMID:15771740 More... NCBI chrNW_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815 		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 chrNW_004936501:11,818,301...11,836,221
Ensembl chrNW_004936501:11,816,585...11,836,231 		JBrowse link
G Atxn2l ataxin 2 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004936501:11,865,796...11,875,215
Ensembl chrNW_004936501:11,865,778...11,874,978 		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 chrNW_004936514:10,618,347...10,622,906
Ensembl chrNW_004936514:10,618,289...10,622,931 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:307,736...335,953
Ensembl chrNW_004936816:307,250...334,785 		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 chrNW_004936514:9,996,600...10,014,793
Ensembl chrNW_004936514:9,998,447...10,075,873 		JBrowse link
G Cavin3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:387,320...388,877
Ensembl chrNW_004936842:387,551...388,882 		JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:329,551...341,491
Ensembl chrNW_004936842:329,376...341,808 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:592,325...597,116
Ensembl chrNW_004936888:592,849...597,107 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004936501:11,793,903...11,807,410
Ensembl chrNW_004936501:11,793,891...11,804,162 		JBrowse link
G Cd81 CD81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936794:664,089...670,294
Ensembl chrNW_004936794:664,115...669,800 		JBrowse link
G Cdhr5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:449,846...457,881
Ensembl chrNW_004936888:449,976...457,618 		JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936794:1,023,891...1,025,470 JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:554,859...557,759
Ensembl chrNW_004936888:554,822...557,713 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:619,579...648,650
Ensembl chrNW_004936888:615,434...648,892 		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 chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865 		JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chrNW_004936516:1,678,610...1,760,099
Ensembl chrNW_004936516:1,678,653...1,760,294 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436 		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 chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chrNW_004936471:28,069,058...28,084,607
Ensembl chrNW_004936471:28,070,462...28,084,648 		JBrowse link
G Cln8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chrNW_004936615:993,092...999,976
Ensembl chrNW_004936615:985,634...1,003,172 		JBrowse link
G Cnga4 cyclic nucleotide gated channel subunit alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:310,741...314,754
Ensembl chrNW_004936842:310,741...314,754 		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 chrNW_004936514:10,642,919...10,674,393
Ensembl chrNW_004936514:10,645,429...10,672,975 		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 chrNW_004936514:10,319,187...10,340,921 JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:586,126...592,275
Ensembl chrNW_004936888:588,974...592,027 		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 chrNW_004936816:680,798...690,959
Ensembl chrNW_004936816:680,798...691,039 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chrNW_004936599:3,026,837...3,033,735
Ensembl chrNW_004936599:3,029,327...3,033,272 		JBrowse link
G CUNH11orf42 chromosome unknown C11orf42 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:271,855...280,494
Ensembl chrNW_004936842:275,808...280,494 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:473,651...497,152
Ensembl chrNW_004936888:473,974...497,158 		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 chrNW_004936514:10,370,961...10,422,484
Ensembl chrNW_004936514:10,370,959...10,403,889 		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 chrNW_004936514:11,131,666...11,139,404
Ensembl chrNW_004936514:11,131,074...11,139,446 		JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:543,702...630,585 JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:468,334...471,254
Ensembl chrNW_004936888:468,403...471,205 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:414,506...430,491
Ensembl chrNW_004936816:414,478...433,123 		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 chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434 		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 chrNW_004936514:10,799,002...10,807,132
Ensembl chrNW_004936514:10,798,671...10,807,132 		JBrowse link
G Eps8l2 EPS8 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:506,144...523,280
Ensembl chrNW_004936888:506,138...523,302 		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 chrNW_004936511:4,259,066...4,280,501
Ensembl chrNW_004936511:4,258,548...4,283,285 		JBrowse link
G Fhip1b FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:280,718...306,311
Ensembl chrNW_004936842:280,718...306,285 		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 chrNW_004936514:10,847,406...10,848,415
Ensembl chrNW_004936514:10,847,414...10,848,607 		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 chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:542,472...547,296
Ensembl chrNW_004936888:543,105...547,296 		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 chrNW_004936514:10,422,620...10,429,272
Ensembl chrNW_004936514:10,422,617...10,431,837 		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 chrNW_004936514:10,876,039...10,904,022
Ensembl chrNW_004936514:10,876,029...10,904,055 		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 chrNW_004936514:10,851,149...10,863,252
Ensembl chrNW_004936514:10,852,109...10,863,969 		JBrowse link
G Hpx hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:485,515...495,684
Ensembl chrNW_004936842:485,517...494,742 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chrNW_004936487:13,348,465...13,352,717
Ensembl chrNW_004936487:13,348,465...13,352,717 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:660,564...678,708
Ensembl chrNW_004936816:660,396...677,658 		JBrowse link
G Igf2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167 		JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:661,961...667,993
Ensembl chrNW_004936842:661,996...667,993 		JBrowse link
G Ins insulin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:445,340...448,801
Ensembl chrNW_004936888:445,549...448,392 		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 chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778 		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 chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678 		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 chrNW_004936514:9,928,234...9,973,425
Ensembl chrNW_004936514:9,928,316...9,973,349 		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 chrNW_004936514:10,980,136...10,983,323 JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:397,581...403,551
Ensembl chrNW_004936888:396,629...403,614 		JBrowse link
G LOC101958553 olfactory receptor 52B2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:243,604...244,849
Ensembl chrNW_004936842:243,604...244,572 		JBrowse link
G LOC101958838 olfactory receptor 52W1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:270,366...271,825
Ensembl chrNW_004936842:270,643...271,605 		JBrowse link
G LOC101968106 olfactory receptor 56A1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:160,608...161,579
Ensembl chrNW_004936842:160,608...161,552 		JBrowse link
G LOC101968403 olfactory receptor 688 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:211,923...213,151 JBrowse link
G LOC101974337 lysosomal thioesterase PPT2 ISO RGD
MouseDO		 PMID:11717424 RGD:734785 NCBI chrNW_004936727:1,438,593...1,447,728
Ensembl chrNW_004936727:1,435,166...1,437,009
Ensembl chrNW_004936727:1,435,166...1,437,009 		JBrowse link
G LOC120889510 insulin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083 		JBrowse link
G Lsp1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:752,021...786,998 JBrowse link
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 PMID:19201763 PMID:19277732 PMID:22668694 PMID:25333361 PMID:25741868 More... NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:342,742...394,219
Ensembl chrNW_004936816:338,754...357,672 		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 chrNW_004936514:10,303,870...10,308,007
Ensembl chrNW_004936514:10,303,597...10,307,185 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:837,660...850,259 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:174,943...209,241 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:882...14,717 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 chrNW_004936511:3,977,950...4,248,959
Ensembl chrNW_004936511:3,978,246...4,249,234 		JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,240,990...10,272,859
Ensembl chrNW_004936514:10,241,020...10,272,816 		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 chrNW_004936501:11,998,064...11,999,431
Ensembl chrNW_004936501:11,997,834...11,999,709 		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 chrNW_004936514:10,308,041...10,318,053 JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:418,089...445,032
Ensembl chrNW_004936888:418,042...448,434 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:565,889...571,273
Ensembl chrNW_004936888:565,912...571,247 		JBrowse link
G Pnpla2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:580,773...585,949
Ensembl chrNW_004936888:580,767...587,083 		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 chrNW_004936544:652,968...653,683 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 chrNW_004936514:10,820,874...10,822,054
Ensembl chrNW_004936514:10,820,889...10,822,054 		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 chrNW_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569 		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 chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241 		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 chrNW_004936514:10,826,013...10,833,170
Ensembl chrNW_004936514:10,826,724...10,832,954 		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 chrNW_004936501:11,807,369...11,818,350
Ensembl chrNW_004936501:11,806,836...11,817,838 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:403,668...406,415
Ensembl chrNW_004936888:403,690...406,402 		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 chrNW_004936514:10,016,227...10,023,590
Ensembl chrNW_004936514:10,017,821...10,023,590 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:574,896...577,567
Ensembl chrNW_004936888:574,583...577,640 		JBrowse link
G Rps21 ribosomal protein S21 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:9,975,647...9,996,492
Ensembl chrNW_004936514:9,995,613...9,996,492 		JBrowse link
G Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:656,508...661,894
Ensembl chrNW_004936842:657,727...661,757 		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 chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402 		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 chrNW_004936514:11,169,167...11,173,956
Ensembl chrNW_004936514:11,167,305...11,173,877 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chrNW_004936511:3,696,150...3,794,031
Ensembl chrNW_004936511:3,694,543...3,794,086 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:459,168...459,919
Ensembl chrNW_004936888:459,247...459,911 		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 chrNW_004936501:12,008,601...12,024,113
Ensembl chrNW_004936501:12,008,425...12,028,239 		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 chrNW_004936501:11,840,227...11,849,742
Ensembl chrNW_004936501:11,840,190...11,848,780 		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 chrNW_004936511:3,615,251...3,671,429
Ensembl chrNW_004936511:3,614,303...3,671,847 		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 chrNW_004936514:10,435,261...10,450,976
Ensembl chrNW_004936514:10,435,275...10,450,960 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:558,064...565,576
Ensembl chrNW_004936888:558,045...565,782 		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 chrNW_004936514:10,984,174...10,987,574
Ensembl chrNW_004936514:10,984,171...10,987,127 		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 chrNW_004936514:10,199,912...10,222,432
Ensembl chrNW_004936514:10,199,850...10,222,435 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:448,315...452,557
Ensembl chrNW_004936842:447,991...452,630 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12946273 RGD:1581253 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		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 chrNW_004936514:10,835,931...10,843,303
Ensembl chrNW_004936514:10,836,156...10,843,303 		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 chrNW_004936514:10,910,444...10,914,676
Ensembl chrNW_004936514:10,906,732...10,912,960 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:732,948...737,371
Ensembl chrNW_004936816:732,565...737,309 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:667,960...669,367
Ensembl chrNW_004936842:667,936...669,441 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:531,002...540,194
Ensembl chrNW_004936888:531,020...540,820 		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 chrNW_004936514:10,340,920...10,358,354
Ensembl chrNW_004936514:10,341,578...10,358,380 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936794:478,651...486,887
Ensembl chrNW_004936794:478,614...487,061 		JBrowse link
G Timm10b translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:531,375...534,113
Ensembl chrNW_004936842:531,399...532,639 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:501,065...504,465
Ensembl chrNW_004936888:501,801...504,378 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:738,754...741,328
Ensembl chrNW_004936816:740,187...741,210 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936816:216,542...245,545
Ensembl chrNW_004936816:216,546...245,606 		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 chrNW_004936514:11,072,148...11,092,454
Ensembl chrNW_004936514:11,072,113...11,094,269 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chrNW_004936842:669,869...676,706
Ensembl chrNW_004936842:669,863...676,720 		JBrowse link
G Trim3 tripartite motif containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936842:494,460...524,305
Ensembl chrNW_004936842:501,127...524,347 		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 chrNW_004936794:673,755...688,288
Ensembl chrNW_004936794:675,078...690,548 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936794:615,540...629,394
Ensembl chrNW_004936794:615,540...629,394 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936888:601,834...618,092
Ensembl chrNW_004936888:601,887...622,244 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004936794:672,123...673,703 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 chrNW_004936501:11,859,558...11,863,689
Ensembl chrNW_004936501:11,859,552...11,865,747 		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 chrNW_004936514:11,144,641...11,156,470
Ensembl chrNW_004936514:11,144,026...11,156,455 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,587,877...10,603,373
Ensembl chrNW_004936514:10,587,222...10,603,478 		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 chrNW_004936514:10,987,728...11,027,450
Ensembl chrNW_004936514:10,987,984...11,027,502 		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 chrNW_004936514:10,965,220...10,980,298
Ensembl chrNW_004936514:10,965,219...10,980,194 		JBrowse link
G Znf512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:11,156,602...11,166,404
Ensembl chrNW_004936514:11,159,416...11,165,202 		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 chrNW_004936543:1,112,746...1,116,521
Ensembl chrNW_004936543:1,112,742...1,116,518 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936541:1,265,915...1,275,232
Ensembl chrNW_004936541:1,265,436...1,275,296 		JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936566:3,737,315...3,775,894
Ensembl chrNW_004936566:3,737,315...3,775,693 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 OMIM
ClinVar		 PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More... NCBI chrNW_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936490:3,441,046...3,492,917
Ensembl chrNW_004936490:3,441,055...3,492,917 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936521:10,296,097...10,316,673
Ensembl chrNW_004936521:10,296,097...10,322,215 		JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936721:1,062,206...1,075,935
Ensembl chrNW_004936721:1,062,217...1,075,988 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chrNW_004936614:4,595,973...4,605,040
Ensembl chrNW_004936614:4,596,617...4,605,104 		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:24767253 PMID:25298308 More... NCBI chrNW_004936816:680,798...690,959
Ensembl chrNW_004936816:680,798...691,039 		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 chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217 		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 chrNW_004936599:3,026,837...3,033,735
Ensembl chrNW_004936599:3,029,327...3,033,272 		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 chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2		 OMIM
ClinVar		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chrNW_004936842:669,869...676,706
Ensembl chrNW_004936842:669,863...676,720 		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 ISO OMIM:204200 MouseDO NCBI chrNW_004936516:1,678,610...1,760,099
Ensembl chrNW_004936516:1,678,653...1,760,294 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO OMIM:204200 MouseDO NCBI chrNW_004936474:637,930...669,383
Ensembl chrNW_004936474:637,978...669,833 		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 chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO OMIM:204200 MouseDO NCBI chrNW_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569 		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:21820099 PMID:22073189 PMID:22235333 More... NCBI chrNW_004936514:11,131,666...11,139,404
Ensembl chrNW_004936514:11,131,074...11,139,446 		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 chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376 		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 OMIM
ClinVar		 PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chrNW_004936471:28,069,058...28,084,607
Ensembl chrNW_004936471:28,070,462...28,084,648 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chrNW_004936536:6,730,070...6,893,818
Ensembl chrNW_004936536:6,730,062...6,894,303 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180 		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 chrNW_004936842:448,315...452,557
Ensembl chrNW_004936842:447,991...452,630 		JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chrNW_004936481:8,362,059...8,405,228
Ensembl chrNW_004936481:8,362,050...8,399,737 		JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chrNW_004936721:1,062,206...1,075,935
Ensembl chrNW_004936721:1,062,217...1,075,988 		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 chrNW_004936471:28,069,058...28,084,607
Ensembl chrNW_004936471:28,070,462...28,084,648 		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 chrNW_004936642:2,762,674...2,801,831
Ensembl chrNW_004936642:2,761,961...2,802,028 		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 chrNW_004936642:2,869,275...2,907,818
Ensembl chrNW_004936642:2,868,950...2,914,995 		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 chrNW_004936642:2,950,197...3,025,079
Ensembl chrNW_004936642:2,921,852...3,025,083 		JBrowse link
G Larp1b La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chrNW_004936642:2,652,009...2,742,177 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:11941481 PMID:15074367 PMID:16199547 PMID:17564970 More... NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G Plk4 polo like kinase 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103 		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 chrNW_004936642:2,921,629...2,945,577
Ensembl chrNW_004936642:2,921,852...3,025,083 		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 chrNW_004936615:993,092...999,976
Ensembl chrNW_004936615:985,634...1,003,172 		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 chrNW_004936615:993,092...999,976
Ensembl chrNW_004936615:985,634...1,003,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13841
    Nutritional and Metabolic Diseases 5455
      disease of metabolism 5455
        lipid metabolism disorder 943
          lipid storage disease 569
            neuronal ceroid lipofuscinosis 163
              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 7
              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 13841
    Developmental Disease 11415
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10349
        genetic disease 9930
          inherited metabolic disorder 3807
            lipid metabolism disorder 943
              lipid storage disease 569
                neuronal ceroid lipofuscinosis 163
                  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 7
                  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