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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:autosomal recessive cutis laxa type IB
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Accession:DOID:0070133 term browser browse the term
Definition:An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: ARCL1B;   AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1B
 primary_id: MIM:614437
 alt_id: RDO:9000260

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autosomal recessive cutis laxa type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719 		JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,553,190...3,555,167
Ensembl chrNW_004936599:3,553,193...3,555,162 		JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676 		JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,529,621...3,538,291 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,649,372...3,650,408
Ensembl chrNW_004936599:3,649,613...3,650,221 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,284,695...3,287,022 JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,310,873...3,316,575
Ensembl chrNW_004936599:3,310,872...3,316,573 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,657,255...3,661,007
Ensembl chrNW_004936599:3,657,453...3,660,922 		JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,624,401...3,626,237
Ensembl chrNW_004936599:3,624,428...3,626,237 		JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,621,549...3,622,824
Ensembl chrNW_004936599:3,621,423...3,622,874 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B OMIM
ClinVar		 PMID:2038931 PMID:8985490 PMID:9536098 PMID:15776121 PMID:16199547 More... NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,555,273...3,558,443
Ensembl chrNW_004936599:3,555,273...3,562,842 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,498,011...3,512,550
Ensembl chrNW_004936599:3,498,005...3,504,901 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434 		JBrowse link
G LOC101958945 1,4-alpha-glucan-branching enzyme ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:25741868 NCBI chrNW_004936505:2,077,206...2,242,079
Ensembl chrNW_004936505:1,974,264...2,241,427 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:15776121 PMID:20389311 PMID:21563328 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,317,258...3,324,208
Ensembl chrNW_004936599:3,317,258...3,324,213 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,577,552...3,588,825
Ensembl chrNW_004936599:3,577,480...3,588,706 		JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,298,799...3,303,912
Ensembl chrNW_004936599:3,297,694...3,303,938 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,589,017...3,600,067 JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    sensory system disease 6685
      skin disease 3910
        cutis laxa 47
          Autosomal Recessive Cutis Laxa 37
            autosomal recessive cutis laxa type I 30
              autosomal recessive cutis laxa type IB 27
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        Neurologic Manifestations 9431
          sensory system disease 6685
            skin disease 3910
              Genetic Skin Diseases 1755
                cutis laxa 47
                  Autosomal Recessive Cutis Laxa 37
                    autosomal recessive cutis laxa type I 30
                      autosomal recessive cutis laxa type IB 27
paths to the root