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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


show annotations for term's descendants           Sort by:
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 chr19:7,861,870...7,892,442
Ensembl chr19:8,708,164...8,737,556 		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 chr19:5,918,097...5,970,069
Ensembl chr19:6,838,787...6,891,292 		JBrowse link
G ALKBH7 alkB homolog 7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,393,317...5,395,886
Ensembl chr19:6,315,604...6,318,170 		JBrowse link
G ANGPTL4 angiopoietin like 4 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,649,429...7,660,154
Ensembl chr19:8,499,858...8,510,148 		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 chr19:6,677,468...6,763,286 JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		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 chr19:6,885,979...6,908,067
Ensembl chr19:7,749,945...7,763,056 		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 chr19:7,307,109...7,363,983
Ensembl chr19:8,208,273...8,217,780 		JBrowse link
G CD209 CD209 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,042,033...7,047,350 JBrowse link
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,587,760...7,594,055
Ensembl chr19:8,438,955...8,445,464 		JBrowse link
G CD70 CD70 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,615,056...5,621,055
Ensembl chr19:6,535,559...6,542,310 		JBrowse link
G CERS4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,509,213...7,562,394
Ensembl chr19:8,364,569...8,415,345 		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 chr19:7,015,848...7,019,396
Ensembl chr19:7,870,730...7,873,631 		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 chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077 		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 chr19:5,485,925...5,494,853
Ensembl chr19:6,414,370...6,417,485 		JBrowse link
G CTXN1 cortexin 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,225,738...7,227,412
Ensembl chr19:8,079,181...8,079,429 		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 chr19:5,495,078...5,516,532
Ensembl chr19:6,417,475...6,433,162 		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 chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137 		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 chr19:7,132,274...7,167,051
Ensembl chr19:7,985,803...8,018,455 		JBrowse link
G FBN3 fibrillin 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,366,530...7,450,545
Ensembl chr19:8,222,701...8,305,586 		JBrowse link
G FCER2 Fc epsilon receptor II ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,978,116...6,989,986
Ensembl chr19:7,834,106...7,844,924 		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 chr19:5,762,576...5,770,169
Ensembl chr19:6,684,024...6,691,620 		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 chr19:5,401,090...5,414,142
Ensembl chr19:6,323,780...6,336,215 		JBrowse link
G HNRNPM heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889 		JBrowse link
G KANK3 KN motif and ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,608,301...7,628,936 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 chr19:5,433,989...5,445,721 JBrowse link
G LOC100978434 C-type lectin domain family 4 member M ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,062,961...7,069,381 JBrowse link
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,919,469...6,921,359 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 chr19:7,189,490...7,203,310
Ensembl chr19:8,041,185...8,055,684 		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 chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G MARCHF2 membrane associated ring-CH-type finger 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,699,828...7,726,094
Ensembl chr19:8,554,242...8,573,672 		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 chr19:6,966,022...6,969,354
Ensembl chr19:7,821,177...7,827,590 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV OMIM
ClinVar		 PMID:1621784 PMID:9450896 PMID:9536098 PMID:10441585 PMID:10973263 More... NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093 		JBrowse link
G MYO1F myosin IF ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,807,863...7,858,955
Ensembl chr19:8,656,082...8,705,107 		JBrowse link
G NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,597,055...7,607,149
Ensembl chr19:8,448,211...8,458,270 		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 chr19:6,921,350...6,923,618
Ensembl chr19:7,776,331...7,779,241 		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 chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174 		JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241 		JBrowse link
G PRAM1 PML-RARA regulated adaptor molecule 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,775,887...7,789,657 JBrowse link
G PSPN persephin ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,396,022...5,398,108
Ensembl chr19:6,318,428...6,320,344 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,676,095...7,690,177 JBrowse link
G RETN resistin ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909 		JBrowse link
G RPS28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,607,197...7,608,113
Ensembl chr19:8,458,321...8,459,250 		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 chr19:6,788,323...6,799,578 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 chr19:5,784,482...5,800,339
Ensembl chr19:6,706,040...6,720,757 		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 chr19:5,474,538...5,487,364
Ensembl chr19:6,388,937...6,410,480 		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 chr19:5,446,931...5,449,135
Ensembl chr19:6,371,338...6,382,413 		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 chr19:7,221,613...7,224,501
Ensembl chr19:8,074,290...8,076,662 		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 chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		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 chr19:7,216,766...7,220,394
Ensembl chr19:8,070,344...8,072,052 		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 chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479 		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 chr19:5,691,648...5,700,935
Ensembl chr19:6,614,378...6,621,763 		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 chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352 		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 chr19:6,970,318...6,972,378 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 chr19:5,772,225...5,784,078
Ensembl chr19:6,693,646...6,705,399 		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 chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785 		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 chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112 		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 chr19:6,909,281...6,919,332
Ensembl chr19:7,764,264...7,774,305 		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 chr19:6,806,690...6,811,914
Ensembl chr19:7,668,319...7,670,046 		JBrowse link
G ZNF414 zinc finger protein 414 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,797,356...7,801,278 JBrowse link
G ZNF557 zinc finger protein 557 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    Nutritional and Metabolic Diseases 7501
      disease of metabolism 7501
        lipid metabolism disorder 1728
          lipid storage disease 798
            mucolipidosis 72
              mucolipidosis type IV 62
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          inherited metabolic disorder 5946
            lipid metabolism disorder 1728
              lipid storage disease 798
                mucolipidosis 72
                  mucolipidosis type IV 62
paths to the root