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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:lipid storage disease
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Accession:DOID:9455 term browser browse the term
Definition:Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Synonyms:exact_synonym: Lipidoses;   Lipidosis;   Lipoid storage diseas;   Lipoidosis;   inborn lipid storage disorder
 primary_id: MESH:D008064;   RDO:0006014
 xref: ICD10CM:E75.6;   ICD9CM:272.7;   ICD9CM:272.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lipid storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
G Depp1 DEPP1, autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 4:148,780,330...148,784,566
Ensembl chr 4:148,782,479...148,784,562
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:225,906,582...226,152,568
Ensembl chr 1:226,114,413...226,152,524
JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:26,387,284...26,389,524 JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hpn hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 1:89,534,112...89,549,575
Ensembl chr 1:89,534,106...89,543,967
JBrowse link
G Inhbe inhibin subunit beta E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:70,641,423...70,642,848
Ensembl chr 7:70,640,075...70,643,169
JBrowse link
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:17524234 RGD:2308821 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP RGD PMID:17524234 RGD:2308821 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr10:97,859,730...97,896,949
Ensembl chr10:97,859,727...97,896,525
JBrowse link
Alcoholic Fatty Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO
RGD PMID:26115886, PMID:18755807, PMID:27220557, PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility
IDA
ISO
human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)
RGD PMID:17058263, PMID:25457208, PMID:29156373, PMID:29063269 RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26428356, PMID:25583360, PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546, PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO
IEP
DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463, PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency OMIM
ClinVar
PMID:1371116 PMID:2060627 PMID:2514102 PMID:2615292 PMID:6256275 PMID:8370580 PMID:8460394 PMID:15856305 PMID:17919309 PMID:25741868 PMID:26822237 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar Annotator: match by OMIM:611722
OMIM
ClinVar
PMID:15773042 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:213700
ClinVar
CTD
OMIM
PMID:2019602 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9008528 PMID:9186905 PMID:9254865 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9790667 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10741487 PMID:10775536 PMID:11181744 PMID:11737215 PMID:11903362 PMID:12000359 PMID:12117727 PMID:12270007 PMID:12555943 PMID:12933951 PMID:14741198 PMID:14999499 PMID:15795599 PMID:16157755 PMID:16199547 PMID:16278884 PMID:16816916 PMID:17030721 PMID:17319284 PMID:17444890 PMID:17576681 PMID:17697869 PMID:18227423 PMID:18414213 PMID:19204079 PMID:19373932 PMID:19801147 PMID:20301583 PMID:20402754 PMID:20450308 PMID:20558929 PMID:20925952 PMID:20981092 PMID:21073839 PMID:21228398 PMID:21345536 PMID:21404287 PMID:21553098 PMID:21627786 PMID:21645175 PMID:21764626 PMID:21955034 PMID:21958693 PMID:21966169 PMID:22197981 PMID:22336472 PMID:22849591 PMID:22878431 PMID:23212406 PMID:23287330 PMID:23659550 PMID:24002088 PMID:24033266 PMID:24080357 PMID:24174808 PMID:24584636 PMID:24627108 PMID:24746394 PMID:25112387 PMID:25447658 PMID:25525159 PMID:25741868 PMID:25862734 PMID:25941960 PMID:25983621 PMID:26156051 PMID:26206375 PMID:26467025 PMID:26519892 PMID:26622071 PMID:26643207 PMID:26861945 PMID:26906304 PMID:26937392 PMID:27084087 PMID:27142713 PMID:27225395 PMID:27455001 PMID:27535533 PMID:27678445 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31450232 PMID:31796091, PMID:2019602 RGD:1600872 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8146180 PMID:16255772 PMID:23485521 PMID:24295952 PMID:28492532 PMID:31230978, PMID:6097111 RGD:1600621 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 PMID:2302219 PMID:2320574 PMID:2514102 PMID:8370580 PMID:8554069 PMID:10196694 PMID:10682309 PMID:11309366 PMID:16199547 PMID:17561962 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Congenital Visceral Steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO RGD PMID:11997462 RGD:1300259 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gla galactosidase, alpha ISO DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500
ClinVar
CTD
OMIM
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1753437 PMID:1846223 PMID:2152885 PMID:2160973 PMID:2164807 PMID:2171331 PMID:2393552 PMID:2539398 PMID:2744760 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7911050 PMID:7951217 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9395081 PMID:9452068 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10845698 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11179018 PMID:11295840 PMID:11322659 PMID:11531969 PMID:11531972 PMID:11668641 PMID:11688386 PMID:11804208 PMID:11828341 PMID:11889412 PMID:11914245 PMID:12068026 PMID:12175777 PMID:12359124 PMID:12428061 PMID:12429061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15492942 PMID:15611419 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15924232 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18023222 PMID:18057066 PMID:18154965 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18565198 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19373884 PMID:19387866 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19925601 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21333496 PMID:21353612 PMID:21517827 PMID:21549080 PMID:21587323 PMID:21598360 PMID:21683120 PMID:21700093 PMID:21804088 PMID:21890869 PMID:21896204 PMID:21946453 PMID:21972175 PMID:22004918 PMID:22063097 PMID:22078290 PMID:22176145 PMID:22205110 PMID:22226368 PMID:22227322 PMID:22241068 PMID:22305854 PMID:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23818648 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 PMID:24094560 PMID:24236025 PMID:24334114 PMID:24365053 PMID:24380807 PMID:24386359 PMID:24395922 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25637381 PMID:25663229 PMID:25741868 PMID:25835592 PMID:25900714 PMID:25955246 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26083343 PMID:26179544 PMID:26238931 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26631895 PMID:26639818 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:27531472 PMID:27532257 PMID:27554049 PMID:27560961 PMID:27576502 PMID:27585509 PMID:27595546 PMID:27629047 PMID:27657681 PMID:27773586 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28798024 PMID:28799081 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29132836 PMID:29186537 PMID:29203563 PMID:29215092 PMID:29247119 PMID:29307789 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29770213 PMID:29794742 PMID:29867742 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30715505 PMID:30762167 PMID:30773290 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31291414 PMID:31372342 PMID:31392112 PMID:31449323 PMID:31566927 PMID:31620600 PMID:31654629 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32042454 PMID:32161151 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32531501 PMID:32699723 PMID:32714835 PMID:32793709 PMID:32860008 PMID:33016649 PMID:33545641, PMID:2539398 RGD:1601350 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 PMID:17532296 PMID:17555407 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25382311 PMID:25611685 PMID:25741868 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:29215092 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency
ClinVar Annotator: match by term: Farber disease
ClinVar Annotator: match by term: Farber's lipogranulomatosis
ClinVar Annotator: match by OMIM:228000
OMIM
ClinVar
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 PMID:11241842 PMID:16951918 PMID:17576681 PMID:20560208 PMID:21893389 PMID:22565078 PMID:23707712 PMID:24033266 PMID:24164096 PMID:24614645 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:31680123 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
fatty liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 treatment IEP
ISO
associated with adult growth hormone deficiency RGD PMID:15995177, PMID:26362727, PMID:30130150 RGD:1598534, RGD:21408552, RGD:18936993 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Acaca acetyl-CoA carboxylase alpha IDA RGD PMID:16485039 RGD:1625727 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acacb acetyl-CoA carboxylase beta IDA RGD PMID:16485039 RGD:1625727 NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO
associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma
RGD PMID:17006986, PMID:20714777, PMID:16115302 RGD:1599139, RGD:5686883, RGD:5686674 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:30225267, PMID:19076162 RGD:21406435, RGD:2307264 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adk adenosine kinase ISS OMIM:228100 MouseDO NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:17332477 RGD:14349048 NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503, PMID:15837923 RGD:1625354 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apoa1 apolipoprotein A1 treatment IEP RGD PMID:30231880 RGD:25671436 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B IEP
ISO
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:12048068 PMID:17303181, PMID:17203948 RGD:2325770 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:32853627, PMID:29459263 RGD:13703129 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
JBrowse link
G Atp5if1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 5:150,719,570...150,723,287
Ensembl chr 5:150,719,569...150,723,321
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:88,126,519...88,136,063
Ensembl chr 2:88,126,667...88,135,410
JBrowse link
G Cat catalase IEP
ISO
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:10860543, PMID:21452373 RGD:5130871 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29684222, PMID:22983634 RGD:8548844 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver RGD PMID:28011329, PMID:28011329 RGD:14995306, RGD:14995306 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19788606 RGD:6893500 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Ctsb cathepsin B IEP mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP
ISO
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:18952117, PMID:19404342, PMID:14606109 RGD:4892244, RGD:1626302 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IMP RGD PMID:17526931 RGD:10400884 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Dhrs7 dehydrogenase/reductase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:95,522,577...95,541,393
Ensembl chr 6:95,522,577...95,541,393
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F2r coagulation factor II (thrombin) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 PMID:22841818 NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced hepatic steatosis RGD PMID:17058218 RGD:1626440 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD PMID:24184811, PMID:32195457 RGD:25330354 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Foxa1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 6:78,516,579...78,549,669
Ensembl chr 6:78,545,804...78,549,669
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 IEP mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gck glucokinase IDA
ISO
associated with Hyperglycemia RGD PMID:22925001, PMID:22925001 RGD:7488945, RGD:7488945 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:19481104, PMID:30185098 RGD:14975167 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 RGD PMID:7846063 RGD:1599882 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Has3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr19:39,063,298...39,077,745
Ensembl chr19:39,063,998...39,077,722
JBrowse link
G Hfe homeostatic iron regulator no_association ISO Non-alcoholic steatohepatitis (NASH)
non-alcoholic fatty liver disease
RGD PMID:12105842, PMID:11473047 RGD:1601460, RGD:1601452 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 1:256,101,994...256,107,581
Ensembl chr 1:256,101,903...256,107,649
JBrowse link
G Hm13 histocompatibility minor 13 ISO associated with hepatitis RGD PMID:27142248 RGD:40924634 NCBI chr 3:148,150,695...148,189,623
Ensembl chr 3:148,150,698...148,189,623
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:228100 MouseDO NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 IEP associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 IMP RGD PMID:18802068 RGD:4145478 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19084941 RGD:4889416 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO
IAGP
associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)
RGD PMID:19205029, PMID:19076162 RGD:2307258, RGD:2307264 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:9048448, PMID:18713300 RGD:2311137 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insig1 insulin induced gene 1 severity ISO
IEP
associated with Obesity
associated with Obesity;mRNA:increased expression:liver
RGD PMID:15096598, PMID:15096598 RGD:2308857, RGD:2308857 NCBI chr 4:342,302...350,515
Ensembl chr 4:342,302...350,515
JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:37,264,818...37,292,718
Ensembl chr13:37,266,312...37,287,458
JBrowse link
G Insr insulin receptor treatment IEP
IMP
associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)
RGD PMID:25160038, PMID:30642871, PMID:22546076 RGD:14700926, RGD:14701028, RGD:14700935 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22275361 RGD:6483019 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO RGD PMID:22367278 RGD:6893372 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554529 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lep leptin severity IEP
ISO
associated with morbid obesity;protein:decreased exprssion:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12661780 PMID:19716478 PMID:23839791 PMID:24525044 PMID:25554529 PMID:27071101 PMID:27712037, PMID:28281237 RGD:21201250 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25367288 PMID:29743445 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lgals3 galectin 3 ISS OMIM:228100 MouseDO NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lrp6 LDL receptor related protein 6 ISS OMIM:228100 MouseDO NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21540183 RGD:9585751 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chr16:18,690,649...18,709,135
Ensembl chr16:18,690,246...18,709,133
JBrowse link
G Mc4r melanocortin 4 receptor ISS OMIM:228100 MouseDO NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mfn2 mitofusin 2 IEP protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir10b microRNA 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 3:61,647,978...61,648,086
Ensembl chr 3:61,647,978...61,648,086
JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir134 microRNA 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,884,547...133,884,619
Ensembl chr 6:133,884,531...133,884,633
JBrowse link
G Mir139 microRNA 139 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:166,589,545...166,589,612
Ensembl chr 1:166,589,545...166,589,612
JBrowse link
G Mir148b microRNA 148b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:144,912,038...144,912,134
Ensembl chr 7:144,912,038...144,912,134
JBrowse link
G Mir150 microRNA 150 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:101,115,974...101,116,058
Ensembl chr 1:101,115,974...101,116,058
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
JBrowse link
G Mir17 microRNA 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:100,179,879...100,179,962
Ensembl chr15:100,179,879...100,179,962
JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 4:57,463,569...57,463,678
Ensembl chr 4:57,463,569...57,463,678
JBrowse link
G Mir219a1 microRNA 219a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr20:3,816,158...3,816,267
Ensembl chr20:3,816,158...3,816,267
JBrowse link
G Mir22 microRNA 22 severity ISO RGD PMID:32195457, PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir224 microRNA 224 IEP associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) RGD PMID:25386083 RGD:18182925 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Mir320a microRNA 320a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr15:52,134,276...52,134,357
Ensembl chr15:52,134,276...52,134,357
JBrowse link
G Mir34a microRNA 34a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 5:167,092,491...167,092,592
Ensembl chr 5:167,092,491...167,092,592
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
JBrowse link
G Mir449c microRNA 449c ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 2:44,896,066...44,896,164
Ensembl chr 2:44,896,066...44,896,164
JBrowse link
G Mir503 microRNA 503 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:158,148,476...158,148,546
Ensembl chr  X:158,148,476...158,148,546
JBrowse link
G Mir542 microRNA 542 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:158,152,146...158,152,224
Ensembl chr  X:158,152,146...158,152,224
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) RGD PMID:15834927 RGD:1580580 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:17303181, PMID:16697730 RGD:1625483 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:21285402 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28555106, PMID:22367278 RGD:6893372 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA RGD PMID:21643627 RGD:5135028 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
severity
ISO CTD Direct Evidence: marker/mechanism
knockout eliminates treatment effectiveness
CTD PMID:29142166, PMID:12971955, PMID:23104131 RGD:15045573, RGD:14696795 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nrep neuronal regeneration related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:26,183,753...26,212,796
Ensembl chr18:26,185,259...26,211,445
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP
ISO
protein:increased expression:liver (rat)
ClinVar Annotator: match by term: Liver steatosis
ClinVar PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532, PMID:24663492 RGD:12453042 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otc ornithine transcarbamylase IEP protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:21756965 RGD:25440484 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Plau plasminogen activator, urokinase ISS OMIM:228100 MouseDO NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD PMID:16439473, PMID:17484887 RGD:1625752 NCBI chr 5:104,984,413...105,010,863
Ensembl chr 5:104,984,414...105,010,857
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 severity ISO CTD Direct Evidence: marker/mechanism
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
CTD PMID:25678388, PMID:25284145, PMID:25678388, PMID:21319195, PMID:23564580 RGD:14981590, RGD:11055420, RGD:14981585, RGD:14981583 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO
IEP
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD Direct Evidence: therapeutic
CTD PMID:19124612, PMID:21929649, PMID:16393287 RGD:5509939, RGD:15042851 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP RGD PMID:15112352 RGD:1580685 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA
IEP
ISO
protein:decreased methylation:liver (rat) RGD PMID:23274094, PMID:22521344, PMID:23174781 RGD:7241844, RGD:7242179, RGD:7242012 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO RGD PMID:19162361 RGD:6484544 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkcd protein kinase C, delta ISO RGD PMID:17596878 RGD:1642523 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:211,050,344...211,073,706
Ensembl chr 2:211,050,360...211,073,714
JBrowse link
G Pten phosphatase and tensin homolog IEP
ISO
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:27022031, PMID:18166358, PMID:15199412 RGD:2292522, RGD:1302555 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA RGD PMID:21643627 RGD:5135028 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: therapeutic CTD PMID:21661758 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Serpina6 serpin family A member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:127,523,948...127,534,178
Ensembl chr 6:127,523,906...127,534,247
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:29684222 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Shc1 SHC adaptor protein 1 ISO associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Sirt1 sirtuin 1 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997, PMID:21540183 RGD:9585751 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chr10:109,796,046...109,802,821
Ensembl chr10:109,796,020...109,802,739
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc22a8 solute carrier family 22 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:224,799,444...224,818,482
Ensembl chr 1:224,800,252...224,818,482
JBrowse link
G Slc27a4 solute carrier family 27 member 4 IEP mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16799967 RGD:25671424 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Suox sulfite oxidase IEP protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chr 7:3,098,228...3,102,179
Ensembl chr 7:3,098,245...3,102,142
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:27022031 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Txn1 thioredoxin 1 IEP RGD PMID:18578693 RGD:2306156 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Ucp2 uncoupling protein 2 IEP
ISO
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:10860543, PMID:21114362 RGD:7204423 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:30905785, PMID:30905785 RGD:14402029, RGD:14402029 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease
ClinVar Annotator: match by term: Kerasin thesaurismosis
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: GBA DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gaucher Disease, Type 3
DNA:mutations:cds, intron:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar Annotator: match by null
ClinVar
CTD
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7500895 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8547070 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9101438 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11406344 PMID:11600137 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12000368 PMID:12204005 PMID:12359135 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12667990 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14509164 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15605411 PMID:15690354 PMID:15916907 PMID:15943874 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16199547 PMID:16293621 PMID:16326120 PMID:16329099 PMID:16546416 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17803231 PMID:18022370 PMID:18030725 PMID:18078074 PMID:18160183 PMID:18160322 PMID:18332251 PMID:18338393 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19459886 PMID:19513999 PMID:19816973 PMID:19846850 PMID:20004867 PMID:20629126 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:21056933 PMID:21106416 PMID:21250698 PMID:21257328 PMID:21370884 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21796727 PMID:21823541 PMID:21831682 PMID:21982627 PMID:22112991 PMID:22118943 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227325 PMID:22234757 PMID:22247978 PMID:22344629 PMID:22350617 PMID:22375149 PMID:22387070 PMID:22429443 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 PMID:22812582 PMID:22884962 PMID:22968580 PMID:23035075 PMID:23056756 PMID:23225227 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:23936319 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24278166 PMID:24313877 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25249066 PMID:25326392 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25535748 PMID:25558695 PMID:25637381 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26027833 PMID:26043810 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26296077 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008195 PMID:27008851 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27312774 PMID:27397011 PMID:27571329 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27825739 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27922757 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28686011 PMID:28727984 PMID:28749476 PMID:28779532 PMID:28923368 PMID:28944235 PMID:28947706 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29527153 PMID:29602947 PMID:29656334 PMID:29685539 PMID:29948939 PMID:29980418 PMID:30115580 PMID:30302829 PMID:30328501 PMID:30382391 PMID:30461613 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30777654 PMID:30949558 PMID:31077260 PMID:32404250 PMID:32623306 PMID:33176831 PMID:33223529 PMID:84325327, PMID:21112800, PMID:17059888, PMID:18586596, PMID:21252206 RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:28492532 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease, perinatal lethal
ClinVar Annotator: match by term: Gaucher disease collodion type
OMIM
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8213821 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9375849 PMID:9554746 PMID:10079102 PMID:10352942 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10796875 PMID:11148530 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15214004 PMID:15605411 PMID:15690354 PMID:16061944 PMID:16293621 PMID:16546416 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17620502 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19459886 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22234757 PMID:22375149 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22968580 PMID:23426826 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24756352 PMID:25249066 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27222815 PMID:27312774 PMID:27717005 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28923368 PMID:29091352 PMID:29527153 PMID:29685539 PMID:30328501 PMID:30497978 PMID:30662625 PMID:30764785 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD I
ClinVar Annotator: match by term: Gaucher disease type I
ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile
ClinVar Annotator: match by term: Gaucher's disease, type 1
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Gaucher Disease, Type 1
ClinVar Annotator: match by term: Gaucher disease, type I
ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9516376 PMID:9536098 PMID:9554746 PMID:9683600 PMID:10079102 PMID:10340647 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11406344 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15605411 PMID:15690354 PMID:15943874 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16199547 PMID:16293621 PMID:16329099 PMID:16546416 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:18022370 PMID:18030725 PMID:18332251 PMID:18338393 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19459886 PMID:19513999 PMID:19816973 PMID:19846850 PMID:20004867 PMID:20629126 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:21056933 PMID:21106416 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21823541 PMID:21982627 PMID:22112991 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22234757 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22429443 PMID:22451204 PMID:22493294 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22968580 PMID:23056756 PMID:23332636 PMID:23386328 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23508695 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24278166 PMID:24313877 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:25084554 PMID:25127542 PMID:25249066 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27222815 PMID:27271787 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27825739 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27922757 PMID:28492532 PMID:28506293 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28923368 PMID:28947706 PMID:29091352 PMID:29140481 PMID:29527153 PMID:29602947 PMID:29685539 PMID:30115580 PMID:30328501 PMID:30382391 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30949558 PMID:31077260 PMID:33223529 PMID:84325327 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: GD I ClinVar PMID:22493294 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD II
ClinVar Annotator: match by term: Gaucher disease type II
ClinVar Annotator: match by term: Acute cerebral Gaucher disease
ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9554746 PMID:10079102 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15954102 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16981045 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20846888 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21982627 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24756352 PMID:25127542 PMID:25249066 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26117366 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27825739 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28923368 PMID:29140481 PMID:29527153 PMID:29685539 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30662625 PMID:30764785 PMID:30949558 PMID:31077260 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD III
ClinVar Annotator: match by term: Gaucher disease type III
ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar Annotator: match by term: Gaucher Disease, Type 3
ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8829654 PMID:8929950 PMID:9040001 PMID:9279145 PMID:9375849 PMID:9554746 PMID:9650766 PMID:10466427 PMID:10636167 PMID:10714667 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16293621 PMID:16981045 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20004867 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20846888 PMID:20947659 PMID:20980259 PMID:21056933 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22387070 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25249066 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26709268 PMID:26743617 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27271787 PMID:27312774 PMID:27717005 PMID:27865684 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28779532 PMID:28923368 PMID:29140481 PMID:29527153 PMID:29685539 PMID:30382391 PMID:30497978 PMID:30537300 PMID:30662625 PMID:30764785 PMID:30949558 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC OMIM
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9375849 PMID:9554746 PMID:10466427 PMID:10636167 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16061944 PMID:16293621 PMID:16981045 PMID:17395504 PMID:17427031 PMID:17620502 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20846888 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24756352 PMID:25249066 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27312774 PMID:27717005 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28779532 PMID:28923368 PMID:29527153 PMID:30662625 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:27662472 PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: I cell disease
ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:29704188 PMID:29872134 PMID:30208878 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Neu1 neuraminidase 1 ISS
ISO
OMIM:256550
ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME
MouseDO
ClinVar
PMID:9054950 PMID:10767332 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16712870 PMID:19568825 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25741868 PMID:26141460 PMID:28492532 PMID:30023283 PMID:32453490 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 treatment ISO ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:230500
ClinVar
CTD
PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8213816 PMID:8500799 PMID:8652017 PMID:9203065 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17664528 PMID:18524657 PMID:19472408 PMID:20175788 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:24033266 PMID:24156116 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29352662 PMID:29439846 PMID:30267299 PMID:30548430 PMID:30555092 PMID:30809705 PMID:31761138, PMID:10737981, PMID:25964428, PMID:17309651 RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: GLB1 DEFICIENCY
ClinVar PMID:16941474 PMID:25741868 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, UMLS MESH term: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: Gm1-gangliosidosis, type I, with cardiac involvement
ClinVar
OMIM
PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11511921 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:19472408 PMID:20175788 PMID:21497194 PMID:21520340 PMID:22128166 PMID:22371915 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24156116 PMID:24767253 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26646981 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30267299 PMID:30548430 PMID:30809705 PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:17576681 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2
ClinVar
OMIM
PMID:1353343 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8213816 PMID:8652017 PMID:8922281 PMID:9203065 PMID:10338095 PMID:10737981 PMID:10744681 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17661814 PMID:17664528 PMID:18524657 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:22128166 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23757202 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24767253 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27679996 PMID:27750150 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29352662 PMID:29439846 PMID:29451896 PMID:30267299 PMID:30548430 PMID:30675867 PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2 ClinVar NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 3
ClinVar Annotator: match by term: Gangliosidosis GM1 type 3
OMIM
ClinVar
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8652017 PMID:9203065 PMID:9536098 PMID:10338095 PMID:10737981 PMID:11504597 PMID:11511921 PMID:12644936 PMID:15714521 PMID:16617000 PMID:16626397 PMID:16941474 PMID:17309651 PMID:17576681 PMID:17664528 PMID:19472408 PMID:19644515 PMID:20175788 PMID:21497194 PMID:21520340 PMID:22128166 PMID:23337983 PMID:23430499 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:26646981 PMID:28492532 PMID:28554332 PMID:28716012 PMID:29160035 PMID:29439846 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:17576681 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:1833974 PMID:7717398 PMID:7827134 PMID:8490625 PMID:22789865 PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar Annotator: match by OMIM:272750
OMIM
ClinVar
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 PMID:10364519 PMID:25558065 PMID:25741868 PMID:26203402 PMID:28492532 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:2294750 PMID:2824459 PMID:2848800 PMID:8230592 PMID:8352284 PMID:8488832 PMID:8490625 PMID:10571007 PMID:11463833 PMID:14727180 PMID:16088929 PMID:16352452 PMID:18358410 PMID:20301397 PMID:20672374 PMID:21228398 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23852624 PMID:24033266 PMID:24374108 PMID:24518553 PMID:24940364 PMID:25287655 PMID:25557439 PMID:25741868 PMID:27033294 PMID:27896118 PMID:27959697 PMID:28492532 PMID:28503624 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1532289 PMID:2145759 PMID:2220809 PMID:2278539 PMID:2522660 PMID:2522679 PMID:8328462 PMID:8343225 PMID:8490625 PMID:10852376 PMID:14566483 PMID:15714079 PMID:16088929 PMID:17015493 PMID:17237499 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22789865 PMID:22975760 PMID:25741868 PMID:27682588 PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, b1 variant ClinVar PMID:1532289 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200
OMIM
ClinVar
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:9536098 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16199547 PMID:16607461 PMID:16759875 PMID:17576681 PMID:17579360 PMID:17824908 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27638583 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31185936 PMID:31319225 PMID:31395954 PMID:32576985 PMID:32860008, PMID:2120388 RGD:38599167 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar
MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
lysosomal and lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Lysosomal acid lipase deficiency
ClinVar Annotator: match by OMIM:278000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16255772 PMID:17576681 PMID:18775687 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24033266 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25525159 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:30684275 PMID:31131398 PMID:31180157 PMID:31230978 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile
ClinVar
OMIM
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2299327 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7635478 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9536098 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17438611 PMID:17560502 PMID:17576681 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22854541 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28296894 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28762252 PMID:28799099 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29966168 PMID:30057904 PMID:30293248 PMID:30674982 PMID:30828547 PMID:31186049 PMID:31694723 PMID:31967741 PMID:32632536 PMID:32860008 PMID:33335837, PMID:15375602, PMID:15026521 RGD:1358435, RGD:1358434 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 NCBI chr 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:120,209,647...120,233,655
Ensembl chr 3:120,209,647...120,233,655
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISS OMIM:251850 MouseDO NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Congenital microvillous atrophy
ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy
ClinVar Annotator: match by OMIM:251850
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:27242896 PMID:28492532 PMID:29266534 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link
mucolipidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:22570975 PMID:24033266 PMID:27662472 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:19197337 PMID:19617216 PMID:19634183 PMID:21416587 PMID:21549105 PMID:22570975 PMID:23227064 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:25107912 PMID:25741868 PMID:27662472 PMID:28095893 PMID:28396763 PMID:28492532 PMID:29872134 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31934135 PMID:32651481 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:24033266 PMID:25741868 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucolipidosis
CTD
ClinVar
PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11845410 PMID:16199547 PMID:16287144 PMID:16645217 PMID:17384215 PMID:19815695 PMID:20864526 PMID:21613607 PMID:23555759 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
mucolipidosis II alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Mucolipidosis, Type II
ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease
ClinVar PMID:9536098 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:19634183 PMID:25741868 PMID:26130485 PMID:27662472 PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: ML II ALPHA/BETA
ClinVar Annotator: match by term: Mucolipidosis II
ClinVar Annotator: match by term: Mucolipidosis, Type II
OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:22495880 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24045841 PMID:24060719 PMID:24375680 PMID:24550498 PMID:24767253 PMID:24798265 PMID:25107912 PMID:25473036 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28918368 PMID:29704188 PMID:29872134 PMID:29966168 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31319225 PMID:31934135 PMID:32651481 PMID:32860008 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
mucolipidosis III alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:27662472 PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by OMIM:252600
OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:29704188 PMID:29872134 PMID:30208878 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
mucolipidosis III gamma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by OMIM:252605
ClinVar Annotator: match by term: Mucolipidosis type III gamma
ClinVar Annotator: match by term: Mucolipidosis III Gamma
ClinVar
OMIM
PMID:10712439 PMID:15060128 PMID:16199547 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:20951619 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27884173 PMID:27896079 PMID:28492532 PMID:29170090 PMID:29704188 PMID:30507725 PMID:30882951 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Gamma ClinVar NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
JBrowse link
mucolipidosis type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar Annotator: match by term: ML IV
ClinVar
OMIM
PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:12125810 PMID:12182165 PMID:14749347 PMID:15178326 PMID:15523648 PMID:16199547 PMID:16257972 PMID:16287144 PMID:16645217 PMID:16978393 PMID:17239335 PMID:17306511 PMID:17384215 PMID:18326692 PMID:18794901 PMID:19815695 PMID:20159435 PMID:21228398 PMID:21763169 PMID:22268962 PMID:22281206 PMID:23555759 PMID:24033266 PMID:25119295 PMID:25465891 PMID:25525159 PMID:25741868 PMID:25933391 PMID:26467025 PMID:28112729 PMID:28492532 PMID:28604674 PMID:28936784 PMID:29019983 PMID:30120981 PMID:31578829 PMID:31899079 PMID:32214227 PMID:32860008 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: ML IV
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar PMID:26467025 PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
mucosulfatidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumf1 sulfatase modifying factor 1 ISS OMIM:272200 MouseDO NCBI chr 4:140,139,017...140,220,482
Ensembl chr 4:140,139,003...140,220,487
JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chr12:30,465,025...30,490,683
Ensembl chr12:30,464,676...30,491,102
JBrowse link
Neuraminidase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Sialidosis type I
ClinVar Annotator: match by term: Neuraminidase 1 deficiency
ClinVar Annotator: match by term: Sialidosis, type II
ClinVar Annotator: match by OMIM:256550
OMIM
ClinVar
PMID:9054950 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14695530 PMID:15908988 PMID:19415310 PMID:25153125 PMID:25741868 PMID:28492532 PMID:32485644 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
neuronal ceroid lipofuscinosis term browser
Symbol Object Name Qualifiers 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:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
JBrowse link
G Adrm1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,548,181...175,552,943
Ensembl chr 3:175,548,174...175,552,947
JBrowse link
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,534,217...214,607,497
Ensembl chr 1:214,534,284...214,606,169
JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,999,209...198,003,839
Ensembl chr 1:197,999,037...198,003,839
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,475,847...176,490,642
Ensembl chr 3:176,475,893...176,489,925
JBrowse link
G Arfip2 ADP-ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,464,995...170,471,138
Ensembl chr 1:170,466,395...170,471,076
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Arsg arylsulfatase G ISO Lysosomal storage disease, ARSG related OMIA PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 PMID:20679209 PMID:22689975 PMID:23338040 PMID:24069350 PMID:25135642 PMID:25452429 PMID:27778018 PMID:28860089 PMID:32219101 NCBI chr10:97,722,550...97,859,975
Ensembl chr10:97,771,264...97,863,311
JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,154,002...216,156,409
Ensembl chr 1:216,154,002...216,156,409
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022275 PMID:22847264 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,279,997...176,282,211
Ensembl chr 3:176,279,997...176,282,211
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,438,335...176,443,864
Ensembl chr 3:176,439,199...176,443,195
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,918,757...214,940,883
Ensembl chr 1:214,927,172...214,947,624
JBrowse link
G Cables2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,630,266...175,644,994
Ensembl chr 3:175,631,881...175,644,988
JBrowse link
G Cavin3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,317,099...170,318,688
Ensembl chr 1:170,317,113...170,318,935
JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,262,218...170,272,298
Ensembl chr 1:170,262,156...170,272,298
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,476,418...214,511,569
Ensembl chr 1:214,476,387...214,511,529
Ensembl chr 1:214,476,387...214,511,529
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr16:32,448,821...32,520,649
Ensembl chr16:32,449,116...32,519,148
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Lipofuscin storage disease
CTD
ClinVar
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:15818814 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29049447 PMID:29343940 PMID:30446867 PMID:30769084 PMID:31568712 PMID:32441891 PMID:32685355 PMID:33507216 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Adult neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27884173 PMID:28492532 PMID:29482223 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 PMID:32393339 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:204300
ClinVar
CTD
PMID:3284607 PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:16199547 PMID:17046213 PMID:17576681 PMID:17988881 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:20430023 PMID:21359198 PMID:21549341 PMID:21990111 PMID:22883287 PMID:23789114 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25401298 PMID:25741868 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:30019023 PMID:30285654 PMID:30561534 PMID:31489614, PMID:11791207, PMID:21549341, PMID:11791207 RGD:1358512, RGD:11064442, RGD:1358512 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19431184 PMID:19807737 PMID:21990111 PMID:22220808 PMID:23374165 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26657971 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28492532 PMID:29503925 PMID:30741402 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
JBrowse link
G Cnga4 cyclic nucleotide gated channel subunit alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,238,959...170,246,858
Ensembl chr 1:170,242,846...170,246,858
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,491,292...176,526,009
Ensembl chr 3:176,494,768...176,526,018
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,439,810...214,445,876
Ensembl chr 1:214,440,503...214,445,874
Ensembl chr 1:214,440,503...214,445,874
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:16199547 PMID:16670177 PMID:17576681 PMID:18762956 PMID:24767253 PMID:25741868 PMID:26059544 PMID:26467025 PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,162,886...176,216,868
Ensembl chr 3:176,162,886...176,197,753
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25741868 PMID:25921748 PMID:26467025 PMID:28492532 PMID:30866059 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,473,792...170,570,220
Ensembl chr 1:170,471,272...170,565,063
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,030,429...215,043,111
Ensembl chr 1:215,030,429...215,033,460
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,964,406...197,982,917
Ensembl chr 1:197,964,407...197,982,601
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Adult neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15728307 PMID:16814585 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:27149842 PMID:28492532 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 PMID:32393339 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fhip1b FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,216,505...170,238,898
Ensembl chr 1:170,212,817...170,238,890
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,217,128...176,223,645
Ensembl chr 3:176,217,128...176,223,645
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Hpx hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,423,558...170,431,066
Ensembl chr 1:170,423,483...170,431,073
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,521,604...215,538,283
Ensembl chr 1:215,515,764...215,536,980
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,126,994...215,127,583 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
JBrowse link
G LOC686660 similar to olfactory receptor 692 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,205,323...170,206,774
Ensembl chr 1:170,205,591...170,206,460
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:33546218 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Mir1b microRNA 1b ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,769,716...175,769,800
Ensembl chr 3:175,769,716...175,769,800
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,953,992...214,962,106
Ensembl chr 1:214,954,553...214,971,929
JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,924,456...175,927,925
Ensembl chr 3:176,087,700...176,090,268
Ensembl chr 3:176,087,700...176,090,268
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,444,545...176,465,197
Ensembl chr 3:176,444,544...176,465,162
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,982,313...176,046,345
Ensembl chr 3:175,885,894...176,046,345
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524
JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,093,662...176,099,949
Ensembl chr 3:175,930,505...176,099,987
JBrowse link
G Olr158 olfactory receptor 158 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,636,914...169,637,873
Ensembl chr 1:169,636,914...169,637,873
JBrowse link
G Olr163 olfactory receptor 163 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,698,323...169,699,288
Ensembl chr 1:169,698,323...169,699,288
JBrowse link
G Olr170 olfactory receptor 170 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G Olr172 olfactory receptor 172 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G Olr184 olfactory receptor 184 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,902,961...169,903,914
Ensembl chr 1:169,902,961...169,903,914
JBrowse link
G Olr188 olfactory receptor 188 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,944,609...169,945,547
Ensembl chr 1:169,944,609...169,945,547
JBrowse link
G Olr190 olfactory receptor 190 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,966,190...169,967,137
Ensembl chr 1:169,966,190...169,967,137
JBrowse link
G Olr193 olfactory receptor 193 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,004,634...170,005,597
Ensembl chr 1:169,990,693...170,005,597
JBrowse link
G Olr194 olfactory receptor 194 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,033,942...170,034,892
Ensembl chr 1:170,033,942...170,034,892
JBrowse link
G Olr197 olfactory receptor 197 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,091,109...170,092,062
Ensembl chr 1:170,091,109...170,092,062
JBrowse link
G Olr198 olfactory receptor 198 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,109,291...170,110,256
Ensembl chr 1:170,109,291...170,110,256
JBrowse link
G Olr202 olfactory receptor 202 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,185,494...170,186,462
Ensembl chr 1:170,185,494...170,186,462
JBrowse link
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,493,650...175,538,965
Ensembl chr 3:175,493,698...175,538,963
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,418,751...214,423,959
Ensembl chr 1:214,419,240...214,423,881
Ensembl chr 1:214,419,240...214,423,881
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,451,966...214,453,974 JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
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 PMID:9733046 PMID:10191107 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11589012 PMID:12382155 PMID:15965709 PMID:16199547 PMID:16759889 PMID:17261688 PMID:17565660 PMID:19302939 PMID:19793312 PMID:19941651 PMID:21228398 PMID:21990111 PMID:23374165 PMID:23539563 PMID:23772246 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:26707855 PMID:28166811 PMID:28492532 PMID:28878621 PMID:29631617 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO
ISS
MouseDO PMID:11717424 RGD:734785 NCBI chr20:4,381,455...4,401,638
Ensembl chr20:4,381,455...4,401,610
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
JBrowse link
G Rbbp8nl RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,646,786...175,661,377
Ensembl chr 3:175,645,281...175,654,707
JBrowse link
G RGD1561034 similar to hypothetical protein MGC34805 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,212,817...170,216,387
Ensembl chr 1:170,212,817...170,216,518
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,428,280...214,430,551
Ensembl chr 1:214,428,526...214,430,515
Ensembl chr 1:214,428,526...214,430,515
JBrowse link
G Rps21-ps1 ribosomal protein S21, pseudogene 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 5:159,606,647...159,606,990 JBrowse link
G Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,574,670...170,578,693
Ensembl chr 1:170,574,349...170,579,616
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:177,091,467...177,095,599
Ensembl chr 3:177,091,457...177,095,597
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Sgf29 SAGA complex associated factor 29 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:198,066,974...198,100,494
Ensembl chr 1:198,067,066...198,100,493
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,228,433...176,246,971
Ensembl chr 3:176,230,378...176,246,953
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059
G Slco4a1 solute carrier organic anion transporter family, member 4a1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,838,994...175,857,985
Ensembl chr 3:175,838,994...175,857,983
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12946273 RGD:1581253 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,605,408...215,607,602
Ensembl chr 1:215,605,404...215,607,696
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,124,846...176,144,531
Ensembl chr 3:176,125,482...176,144,531
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Timm10b translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,471,265...170,474,111
Ensembl chr 1:170,471,238...170,474,113
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,823,993...214,844,861
Ensembl chr 1:214,823,978...214,844,858
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 PMID:10356316 PMID:10665500 PMID:11017954 PMID:11071145 PMID:11339651 PMID:11589009 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:16199547 PMID:16782851 PMID:16814585 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18414213 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20340139 PMID:21990111 PMID:22245569 PMID:22612257 PMID:22832778 PMID:23266810 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24767253 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26795593 PMID:27407112 PMID:27553520 PMID:28335910 PMID:28464005 PMID:28492532 PMID:29056246 PMID:30541466 PMID:30792901 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trim3 tripartite motif-containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,441,662...170,464,341
Ensembl chr 1:170,441,639...170,464,341
JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,256,653...216,281,504
Ensembl chr 1:216,257,820...216,274,930
JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,189,535...216,206,202
Ensembl chr 1:216,191,886...216,206,200
JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,253,786...216,256,610
Ensembl chr 1:216,254,979...216,256,608
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:177,066,022...177,078,611
Ensembl chr 3:177,066,014...177,078,594
JBrowse link
G Ythdf1 YTH N(6)-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,415,911...176,431,423
Ensembl chr 3:176,415,914...176,431,423
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:177,078,708...177,089,210
Ensembl chr 3:177,078,709...177,089,199
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
JBrowse link
neuronal ceroid lipofuscinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fis1 fission, mitochondrial 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:256730
OMIM
ClinVar
CTD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10191109 PMID:10416973 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11520175 PMID:11589012 PMID:12125808 PMID:12382155 PMID:12796825 PMID:12855696 PMID:14997939 PMID:15464427 PMID:15965709 PMID:16199547 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:17576681 PMID:18414213 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:21224254 PMID:21228398 PMID:21499717 PMID:21704547 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24033266 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26075876 PMID:26275418 PMID:26467025 PMID:26510000 PMID:26707855 PMID:27722792 PMID:28166811 PMID:28492532 PMID:28559085 PMID:28878621 PMID:29631617 PMID:29655203 PMID:30541466, PMID:11717424 RGD:734785 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
neuronal ceroid lipofuscinosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 10
ClinVar Annotator: match by OMIM:610127
OMIM
ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
neuronal ceroid lipofuscinosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO