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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:mucolipidosis type IV
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Accession:DOID:0080490 term browser browse the term
Definition:A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. (DO)
Synonyms:exact_synonym: ML IV;   ML4;   Mucolipidosis IV;   mucolipidosis type 4;   type IV mucolipidoses
 primary_id: MIM:252650
 xref: GARD:94;   NCI:C84896;   ORDO:578

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mucolipidosis type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,337,519...5,356,978
Ensembl chrNW_004936588:5,337,877...5,354,848 		JBrowse link
G Adgre1 adhesion G protein-coupled receptor E1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,127,497...4,169,323
Ensembl chrNW_004936588:4,138,872...4,167,069 		JBrowse link
G Alkbh7 alkB homolog 7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,733,103...3,734,770
Ensembl chrNW_004936588:3,732,526...3,737,219 		JBrowse link
G Angptl4 angiopoietin like 4 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,188,866...5,194,924
Ensembl chrNW_004936588:5,188,850...5,194,931 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Camsap3 calmodulin regulated spectrin associated protein family member 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,660,664...4,669,836
Ensembl chrNW_004936588:4,655,311...4,669,532 		JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,973,476...4,998,365 JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,142,561...5,147,111
Ensembl chrNW_004936588:5,142,561...5,147,074 		JBrowse link
G Cd70 CD70 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,918,944...3,921,720
Ensembl chrNW_004936588:3,918,965...3,921,720 		JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,121,645...5,128,774
Ensembl chrNW_004936588:5,107,663...5,131,140 		JBrowse link
G Clec4g C-type lectin domain family 4 member G ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,737,278...4,740,750
Ensembl chrNW_004936588:4,738,182...4,740,750 		JBrowse link
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,723,188...3,728,037
Ensembl chrNW_004936588:3,722,941...3,731,439 		JBrowse link
G Crb3 crumbs cell polarity complex component 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,806,193...3,811,718
Ensembl chrNW_004936588:3,808,839...3,814,801 		JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,898,888...4,901,904
Ensembl chrNW_004936588:4,900,302...4,901,904 		JBrowse link
G Dennd1c DENN domain containing 1C ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,811,792...3,820,346 JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,931,665...4,959,032
Ensembl chrNW_004936588:4,927,950...4,959,064 		JBrowse link
G Evi5l ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,844,415...4,860,178
Ensembl chrNW_004936588:4,844,317...4,860,574 		JBrowse link
G Fbn3 fibrillin 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:5,000,128...5,054,177
Ensembl chrNW_004936588:5,000,645...5,054,228 		JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,717,010...4,724,664
Ensembl chrNW_004936588:4,719,447...4,724,664 		JBrowse link
G Gpr108 G protein-coupled receptor 108 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,027,068...4,034,188
Ensembl chrNW_004936588:4,027,392...4,034,162 		JBrowse link
G Gtf2f1 general transcription factor IIF subunit 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,742,880...3,750,400
Ensembl chrNW_004936588:3,742,921...3,750,196 		JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,241,276...5,283,952
Ensembl chrNW_004936588:5,222,509...5,239,890
Ensembl chrNW_004936588:5,222,509...5,239,890 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668 		JBrowse link
G Kank3 KN motif and ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,155,833...5,168,656
Ensembl chrNW_004936588:5,156,095...5,164,627 		JBrowse link
G Khsrp KH-type splicing regulatory protein ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,764,401...3,774,492
Ensembl chrNW_004936588:3,766,332...3,773,872 		JBrowse link
G LOC101966343 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,680,083...4,681,563
Ensembl chrNW_004936588:4,680,102...4,681,563 		JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,873,412...4,880,574
Ensembl chrNW_004936588:4,873,412...4,880,533 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,882,191...4,891,807
Ensembl chrNW_004936588:4,882,184...4,892,071 		JBrowse link
G Mcemp1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,710,910...4,714,691 JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV OMIM
ClinVar		 PMID:9450896 PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 More... NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787 		JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,299,977...5,331,065
Ensembl chrNW_004936588:5,302,018...5,336,345 		JBrowse link
G Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,149,669...5,154,557
Ensembl chrNW_004936588:5,149,675...5,154,557 		JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,681,559...4,683,443
Ensembl chrNW_004936588:4,680,060...4,683,381 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,574,220...4,580,195
Ensembl chrNW_004936588:4,574,612...4,580,222 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
G Pram1 PML-RARA regulated adaptor molecule 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,284,001...5,294,900
Ensembl chrNW_004936588:5,284,621...5,292,520 		JBrowse link
G Pspn persephin ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,734,821...3,735,766
Ensembl chrNW_004936588:3,735,027...3,735,587 		JBrowse link
G Rab11b RAB11B, member RAS oncogene family ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,198,659...5,210,430
Ensembl chrNW_004936588:5,198,394...5,214,603 		JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,705,295...4,706,653
Ensembl chrNW_004936588:4,705,119...4,706,656 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,154,614...5,155,522
Ensembl chrNW_004936588:5,154,615...5,155,522 		JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,585,737...4,589,892
Ensembl chrNW_004936588:4,585,951...4,589,865 		JBrowse link
G Sh2d3a SH2 domain containing 3A ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,044,938...4,052,123 JBrowse link
G Slc25a23 solute carrier family 25 member 23 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,792,760...3,804,788
Ensembl chrNW_004936588:3,792,778...3,808,593 		JBrowse link
G Slc25a41 solute carrier family 25 member 41 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,777,113...3,786,643
Ensembl chrNW_004936588:3,777,363...3,785,498 		JBrowse link
G Snapc2 small nuclear RNA activating complex polypeptide 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,896,248...4,898,996
Ensembl chrNW_004936588:4,896,329...4,901,417 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,688,221...4,696,075
Ensembl chrNW_004936588:4,687,834...4,696,146 		JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,892,081...4,896,112
Ensembl chrNW_004936588:4,892,208...4,895,333 		JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,902,462...4,917,081
Ensembl chrNW_004936588:4,902,424...4,917,081 		JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,976,492...3,979,825
Ensembl chrNW_004936588:3,976,492...3,979,825 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,844,924...3,847,218 JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,714,133...4,715,711
Ensembl chrNW_004936588:4,714,156...4,715,718 		JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,035,370...4,044,751
Ensembl chrNW_004936588:4,037,511...4,044,486 		JBrowse link
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:3,821,171...3,826,827
Ensembl chrNW_004936588:3,821,110...3,826,940 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,058,312...4,107,330
Ensembl chrNW_004936588:4,058,343...4,107,109 		JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,670,866...4,679,888
Ensembl chrNW_004936588:4,670,841...4,679,965 		JBrowse link
G Znf358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chrNW_004936588:4,592,060...4,598,775
Ensembl chrNW_004936588:4,597,045...4,598,700 		JBrowse link
G Znf414 zinc finger protein 414 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chrNW_004936588:5,294,957...5,298,856
Ensembl chrNW_004936588:5,295,855...5,298,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    Nutritional and Metabolic Diseases 7076
      disease of metabolism 7076
        lipid metabolism disorder 1653
          lipid storage disease 763
            mucolipidosis 68
              mucolipidosis type IV 58
Path 2
Term Annotations click to browse term
  disease 14637
    Developmental Disease 12844
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12086
        genetic disease 11805
          inherited metabolic disorder 5604
            lipid metabolism disorder 1653
              lipid storage disease 763
                mucolipidosis 68
                  mucolipidosis type IV 58
paths to the root