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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.


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 chr 2:181,134,999...181,136,773
Ensembl chr 2:181,134,999...181,136,773 		JBrowse link
G Adrm1 adhesion regulating molecule 1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,813,381...179,818,076
Ensembl chr 2:179,813,278...179,818,079 		JBrowse link
G Ap2a2 adaptor-related protein complex 2, alpha 2 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,142,093...141,212,924
Ensembl chr 7:141,142,086...141,212,924 		JBrowse link
G Apbb1 amyloid beta (A4) precursor protein-binding, family B, member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,207,672...105,231,151
Ensembl chr 7:105,207,690...105,230,860 		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 7:126,184,092...126,188,297
Ensembl chr 7:126,184,114...126,188,284 		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 2:180,608,290...180,624,319
Ensembl chr 2:180,609,018...180,624,319 		JBrowse link
G Arfip2 ADP-ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,283,408...105,289,623
Ensembl chr 7:105,283,410...105,289,623 		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 2:180,999,483...181,007,197
Ensembl chr 2:180,999,483...181,007,197 		JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor (GEF) 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:15024724 PMID:28116333 PMID:28492532 NCBI chr 8:14,956,405...15,051,085
Ensembl chr 8:14,961,663...15,051,085 		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 chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		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 7:142,520,559...142,523,001
Ensembl chr 7:142,520,566...142,523,001 		JBrowse link
G Atp13a2 ATPase type 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022275 PMID:22847264 NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641 		JBrowse link
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280 		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 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609 		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 2:180,416,174...180,418,693
Ensembl chr 2:180,416,174...180,418,693 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 (livin) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,503,488...141,557,981
Ensembl chr 7:141,503,488...141,557,984 		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 2:179,900,332...179,915,283
Ensembl chr 2:179,900,333...179,915,289 		JBrowse link
G Cavin3 caveolae associated 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,129,823...105,131,404
Ensembl chr 7:105,129,290...105,131,507 		JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,074,882...105,085,546
Ensembl chr 7:105,074,938...105,120,105 		JBrowse link
G Cd151 CD151 antigen ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386 		JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
G Cd81 CD81 antigen ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,848,993...140,856,708
Ensembl chr 7:140,848,996...140,856,699 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C (P57) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:143,012,076...143,014,802
Ensembl chr 7:143,012,076...143,014,787 		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 7:141,006,359...141,009,475
Ensembl chr 7:141,006,359...141,009,404 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,073,049...141,119,818
Ensembl chr 7:141,073,049...141,119,770 		JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,664,104...180,685,365
Ensembl chr 2:180,660,173...180,685,339 		JBrowse link
G Clcn3 chloride channel, voltage-sensitive 3 IMP RGD PMID:12059962 RGD:734783 NCBI chr 8:61,363,423...61,436,353
Ensembl chr 8:61,363,423...61,436,334 		JBrowse link
G Cln3 ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis		 CTD
ClinVar		 PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chr 7:126,170,379...126,184,989
Ensembl chr 7:126,170,379...126,184,989 		JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 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 chr14:103,307,652...103,315,066
Ensembl chr14:103,307,652...103,315,064 		JBrowse link
G Cln6 ceroid-lipofuscinosis, neuronal 6 IAGP
ISO		 CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis		 CTD
ClinVar
RGD		 PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... RGD:1358512, RGD:1358512, RGD:11064442 NCBI chr 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288 		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 chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720 		JBrowse link
G Cnga4 cyclic nucleotide gated channel alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,049,247...105,057,981
Ensembl chr 7:105,053,775...105,057,949 		JBrowse link
G Col20a1 collagen, type XX, alpha 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,626,629...180,659,338
Ensembl chr 2:180,628,328...180,660,156 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,041,007...141,046,526
Ensembl chr 7:141,041,007...141,046,526 		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 7:141,929,647...141,941,564
Ensembl chr 7:141,929,648...141,941,775 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr19:4,905,153...4,910,946
Ensembl chr19:4,905,158...4,910,946 		JBrowse link
G Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603 		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 2:180,299,756...180,351,886
Ensembl chr 2:180,299,757...180,351,792 		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 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926 		JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,299,983...105,371,007
Ensembl chr 7:105,300,034...105,371,006 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,871,887...140,876,377
Ensembl chr 7:140,871,919...140,876,377 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,633,224...141,649,799
Ensembl chr 7:141,633,227...141,649,580 		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 chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838 		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 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807 		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 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933 		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 chr14:103,317,675...103,337,036
Ensembl chr14:103,317,675...103,337,002 		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 7:105,020,418...105,049,349
Ensembl chr 7:105,020,418...105,049,261 		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 2:180,854,385...180,864,649
Ensembl chr 2:180,861,806...180,864,647 		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 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,988,097...140,994,038
Ensembl chr 7:140,987,707...140,994,049 		JBrowse link
G Gid8 GID complex subunit 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,351,874...180,363,392
Ensembl chr 2:180,351,910...180,360,526 		JBrowse link
G Gm39115 predicted gene, 39115 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,688,680...141,689,820
Ensembl chr 7:141,689,073...141,689,771 		JBrowse link
G Gm5901 predicted gene 5901 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,024,245...105,027,584
Ensembl chr 7:105,024,245...105,027,584 		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 2:180,893,240...180,933,481
Ensembl chr 2:180,893,242...180,929,828 		JBrowse link
G H19 H19, imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,886 		JBrowse link
G Helz2 helicase with zinc finger 2, transcriptional coactivator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,869,408...180,883,851
Ensembl chr 2:180,869,408...180,883,820 		JBrowse link
G Hpx hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,240,818...105,249,323
Ensembl chr 7:105,240,820...105,249,344 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,769,847...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hspa5 heat shock protein 5 IEP protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,879,572...141,927,526
Ensembl chr 7:141,879,574...141,927,490 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2os insulin-like growth factor 2, opposite strand ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,213,417...142,224,093
Ensembl chr 7:142,213,430...142,224,093 		JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,385,797...105,392,132
Ensembl chr 7:105,385,799...105,392,132 		JBrowse link
G Ins2 insulin II ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,843,096...140,846,412
Ensembl chr 7:140,842,619...140,846,394 		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 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Kcnq1ot1 KCNQ1 overlapping transcript 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,766,848...142,850,284
Ensembl chr 7:142,757,195...142,850,286 		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 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		JBrowse link
G Kctd7 potassium channel tetramerisation 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 chr 5:130,166,814...130,183,960
Ensembl chr 5:130,173,702...130,184,647 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,850,114...141,850,871
Ensembl chr 7:141,850,071...141,850,855 		JBrowse link
G Krtap5-2 keratin associated protein 5-2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,728,269...141,729,742
Ensembl chr 7:141,728,272...141,729,742 		JBrowse link
G Krtap5-5 keratin associated protein 5-5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,782,532...141,783,708
Ensembl chr 7:141,782,532...141,783,708 		JBrowse link
G Lama5 laminin, alpha 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,818,166...179,868,092
Ensembl chr 2:179,818,166...179,867,652 		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 2:181,023,028...181,025,421
Ensembl chr 2:181,021,871...181,025,421 		JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,789,903...140,795,617
Ensembl chr 7:140,789,905...140,793,993 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Lsp1 lymphocyte specific 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,014,549...142,048,605
Ensembl chr 7:142,014,546...142,048,604 		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 chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Mir133a-2 microRNA 133a-2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,040,172...180,040,275
Ensembl chr 2:180,040,172...180,040,275 		JBrowse link
G Mir1a-1 microRNA 1a-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,030,841...180,030,917
Ensembl chr 2:180,030,841...180,030,917 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,562,254...141,614,796
Ensembl chr 7:141,562,272...141,614,802 		JBrowse link
G Mrgbp MRG/MORF4L binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,222,990...180,228,097
Ensembl chr 2:180,223,097...180,228,097 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,086,204...142,094,484
Ensembl chr 7:142,086,423...142,094,484 		JBrowse link
G Muc2 mucin 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Muc6 mucin 6, gastric ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641 		JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250 		JBrowse link
G Nkain4 Na+/K+ transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,576,559...180,596,730
Ensembl chr 2:180,576,565...180,596,492 		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 2:180,141,769...180,186,772
Ensembl chr 2:180,141,769...180,186,773 		JBrowse link
G Nupr1 nuclear protein transcription regulator 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,222,418...126,224,642
Ensembl chr 7:126,222,421...126,230,033 		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 2:180,231,200...180,237,630
Ensembl chr 2:180,231,038...180,237,629 		JBrowse link
G Or52b2 olfactory receptor family 52 subfamily B member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,985,953...104,986,921
Ensembl chr 7:104,984,716...104,991,477 		JBrowse link
G Or52e4 olfactory receptor family 52 subfamily E member 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,705,455...104,706,393
Ensembl chr 7:104,700,579...104,708,213 		JBrowse link
G Or52e8 olfactory receptor family 52 subfamily E member 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,621,683...104,625,202
Ensembl chr 7:104,622,103...104,628,333 		JBrowse link
G Or52e8b olfactory receptor family 52 subfamily E member 8B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,673,232...104,674,173
Ensembl chr 7:104,670,577...104,677,667 		JBrowse link
G Or52l1 olfactory receptor family 52 subfamily L member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,829,568...104,830,518
Ensembl chr 7:104,827,623...104,835,219 		JBrowse link
G Or52n1 olfactory receptor family 52 subfamily N member 1, pseudogene 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,382,592...104,383,557
Ensembl chr 7:104,382,592...104,383,557 		JBrowse link
G Or52n2 olfactory receptor family 52 subfamily N member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,541,877...104,542,833
Ensembl chr 7:104,541,029...104,545,159 		JBrowse link
G Or52n4 olfactory receptor family 52 subfamily N member 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,292,087...104,296,512
Ensembl chr 7:104,292,084...104,296,512 		JBrowse link
G Or52n5 olfactory receptor family 52 subfamily N member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,587,735...104,588,688
Ensembl chr 7:104,583,447...104,589,684 		JBrowse link
G Or52w1 olfactory receptor family 52 subfamily W member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,017,535...105,018,524
Ensembl chr 7:105,017,437...105,018,562 		JBrowse link
G Or56a3 olfactory receptor family 56 subfamily A member 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,734,925...104,735,872
Ensembl chr 7:104,730,412...104,739,849 		JBrowse link
G Or56a4 olfactory receptor family 56 subfamily A member 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,805,949...104,806,887
Ensembl chr 7:104,803,899...104,812,860 		JBrowse link
G Or56a5 olfactory receptor family 56 subfamily A member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,792,557...104,793,516
Ensembl chr 7:104,790,046...104,796,219 		JBrowse link
G Or56b1 olfactory receptor family 56 subfamily B member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,284,883...104,285,842
Ensembl chr 7:104,274,001...104,286,688 		JBrowse link
G Or56b34 olfactory receptor family 56 subfamily B member 34 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:104,937,302...104,938,267
Ensembl chr 7:104,937,302...104,938,267 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,808,373...140,842,664
Ensembl chr 7:140,808,697...140,842,663 		JBrowse link
G Pidd1 p53 induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,018,026...141,027,477
Ensembl chr 7:141,018,026...141,023,938 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,035,101...141,040,656
Ensembl chr 7:141,035,111...141,040,656 		JBrowse link
G Polr2l polymerase (RNA) II (DNA directed) polypeptide L ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,051,773...141,055,066
Ensembl chr 7:141,051,773...141,055,045 		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 2:180,828,615...180,830,297
Ensembl chr 2:180,829,040...180,830,564 		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 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 IMP
IAGP		 MouseDO
RGD		 PMID:11717424 RGD:734785 NCBI chr17:34,835,636...34,856,993
Ensembl chr17:34,835,636...34,847,484 		JBrowse link
G Prpf6 pre-mRNA splicing factor 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:181,243,112...181,297,454
Ensembl chr 2:181,233,661...181,297,453 		JBrowse link
G Ptk6 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 2:180,836,917...180,845,408
Ensembl chr 2:180,835,514...180,844,582 		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 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417 		JBrowse link
G Rassf7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,795,338...140,798,571
Ensembl chr 7:140,795,773...140,798,571 		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 2:179,917,039...179,931,693
Ensembl chr 2:179,919,439...179,931,672 		JBrowse link
G Rplp2 ribosomal protein, large P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,027,564...141,031,272
Ensembl chr 7:141,027,283...141,031,498 		JBrowse link
G Rps21 ribosomal protein S21 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,899,172...179,900,237
Ensembl chr 2:179,899,170...179,900,238 		JBrowse link
G Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,380,937...105,386,592
Ensembl chr 7:105,380,937...105,386,592 		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 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		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 2:181,237,008...181,241,227
Ensembl chr 2:181,237,011...181,241,005 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,858,242...140,859,082
Ensembl chr 7:140,858,243...140,859,046 		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 7:126,247,558...126,271,951
Ensembl chr 7:126,248,481...126,272,097 		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 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596 		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 chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343 		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 2:180,363,989...180,384,073
Ensembl chr 2:180,367,056...180,384,073 		JBrowse link
G Slc25a22 solute carrier family 25 (mitochondrial carrier, glutamate), member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805 		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 2:180,098,019...180,116,646
Ensembl chr 2:180,098,038...180,116,660 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO RGD PMID:12946273 RGD:1581253 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		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 2:180,847,356...180,854,964
Ensembl chr 2:180,847,355...180,854,978 		JBrowse link
G Stmn3 stathmin-like 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,948,252...180,956,293
Ensembl chr 2:180,948,252...180,956,293 		JBrowse link
G Sult1a1 sulfotransferase family 1A, phenol-preferring, member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,272,037...126,289,615
Ensembl chr 7:126,272,037...126,275,604 		JBrowse link
G Syt8 synaptotagmin VIII ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,988,195...141,994,136
Ensembl chr 7:141,988,587...141,994,133 		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 7:105,392,101...105,393,586
Ensembl chr 7:105,388,600...105,393,568 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,972,073...140,982,889
Ensembl chr 7:140,972,112...140,982,881 		JBrowse link
G Tcfl5 transcription factor-like 5 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,263,749...180,284,484
Ensembl chr 2:180,263,749...180,284,501 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G Timm10b translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,289,652...105,304,955
Ensembl chr 7:105,289,263...105,292,844
Ensembl chr 7:105,289,263...105,292,844 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,908,043...140,917,069
Ensembl chr 7:140,907,652...140,917,069 		JBrowse link
G Tnni2 troponin I, skeletal, fast 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,995,553...141,998,147
Ensembl chr 7:141,995,545...141,998,147 		JBrowse link
G Tnnt3 troponin T3, skeletal, fast ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,052,530...142,069,746
Ensembl chr 7:142,052,573...142,069,746 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,435,317...141,456,198
Ensembl chr 7:141,428,550...141,472,244 		JBrowse link
G Tpd52l2 tumor protein D52-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 2:181,138,935...181,159,755
Ensembl chr 2:181,138,935...181,159,759 		JBrowse link
G Tpp1 tripeptidyl peptidase I 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 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442 		JBrowse link
G Trim3 tripartite motif-containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,253,670...105,282,805
Ensembl chr 7:105,253,670...105,282,778 		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 7:142,625,266...142,648,379
Ensembl chr 7:142,622,890...142,648,379 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,558,644...142,573,223
Ensembl chr 7:142,558,783...142,573,381 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,055,149...141,073,340
Ensembl chr 7:141,055,153...141,073,340 		JBrowse link
G Tssc4 tumor-suppressing subchromosomal transferable fragment 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,621,049...142,624,830
Ensembl chr 7:142,622,986...142,624,830 		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 7:126,086,445...126,089,903
Ensembl chr 7:126,086,533...126,089,903 		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 2:181,210,942...181,223,820
Ensembl chr 2:181,210,942...181,226,685 		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 chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742 		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 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219 		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 2:181,223,896...181,234,573
Ensembl chr 2:181,223,896...181,234,596 		JBrowse link
G Zgpat zinc finger, CCCH-type with G patch domain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:181,006,724...181,022,586
Ensembl chr 2:181,006,721...181,025,421 		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 chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 3:32,583,594...32,633,374
Ensembl chr 3:32,583,614...32,633,388 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 5:51,611,591...52,273,337
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
CTD Direct Evidence: marker/mechanism
OMIM:256730		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More... RGD:734785 NCBI chr 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483 		JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110 		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
IAGP		 ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
OMIM:610127		 OMIM
ClinVar
MouseDO		 PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 More... NCBI chr 7:141,929,647...141,941,564
Ensembl chr 7:141,929,648...141,941,775 		JBrowse link
neuronal ceroid lipofuscinosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 OMIM
ClinVar		 PMID:16862116 PMID:16950801 PMID:17698705 PMID:18245784 PMID:18392865 More... NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874 		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 chr19:4,905,153...4,910,946
Ensembl chr19:4,905,158...4,910,946 		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 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Tpp1 tripeptidyl peptidase I ISO
IAGP		 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:204500		 OMIM
ClinVar
MouseDO		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442 		JBrowse link
neuronal ceroid lipofuscinosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride channel, voltage-sensitive 3 IAGP OMIM:204200 MouseDO NCBI chr 8:61,363,423...61,436,353
Ensembl chr 8:61,363,423...61,436,334 		JBrowse link
G Clcn6 chloride channel, voltage-sensitive 6 IAGP OMIM:204200 MouseDO NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278 		JBrowse link
G Cln3 ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) ISO
IAGP		 ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease
OMIM:204200		 OMIM
ClinVar
MouseDO		 PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More... NCBI chr 7:126,170,379...126,184,989
Ensembl chr 7:126,170,379...126,184,989 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 IAGP OMIM:204200 MouseDO NCBI chr 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968 		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 chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926 		JBrowse link
neuronal ceroid lipofuscinosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO
IAGP		 ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
OMIM:256731		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr14:103,307,652...103,315,066
Ensembl chr14:103,307,652...103,315,064 		JBrowse link
neuronal ceroid lipofuscinosis 6A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln6 ceroid-lipofuscinosis, neuronal 6 ISO
IAGP		 ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6
OMIM:601780
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chr 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 More... NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596 		JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 1:155,034,374...155,083,405
Ensembl chr 1:155,034,461...155,084,002 		JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		JBrowse link
neuronal ceroid lipofuscinosis 6B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln6 ceroid-lipofuscinosis, neuronal 6 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 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288 		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 3:40,825,532...40,892,573
Ensembl chr 3:40,801,405...40,892,573 		JBrowse link
G Hspa4l heat shock protein 4 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 3:40,698,932...40,750,538
Ensembl chr 3:40,699,814...40,750,538 		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 3:40,585,440...40,659,206
Ensembl chr 3:40,585,435...40,659,204 		JBrowse link
G Larp1b La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 3:40,904,198...40,994,642
Ensembl chr 3:40,904,263...40,994,669 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO
IAGP		 ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
OMIM:610951		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11941481 PMID:15074367 PMID:16199547 PMID:17564970 More... NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		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 3:40,754,386...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
G Slc25a31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 3:40,663,301...40,680,525
Ensembl chr 3:40,663,285...40,680,527 		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
IAGP		 ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8
OMIM:600143		 OMIM
ClinVar
MouseDO		 PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720 		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 chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15381
    Nutritional and Metabolic Diseases 5982
      disease of metabolism 5982
        lipid metabolism disorder 1046
          lipid storage disease 649
            neuronal ceroid lipofuscinosis 187
              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 15381
    Developmental Disease 12503
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11256
        genetic disease 10795
          inherited metabolic disorder 4170
            lipid metabolism disorder 1046
              lipid storage disease 649
                neuronal ceroid lipofuscinosis 187
                  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