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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Cutis Laxa
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Accession:DOID:9002034 term browser browse the term
Synonyms:exact_synonym: Cutis laxa, type 1;   recessive cutis laxa
 primary_id: MESH:C536225
 alt_id: RDO:0001714
For additional species annotation, visit the Alliance of Genome Resources.


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Autosomal Recessive Cutis Laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:11554173
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
autosomal recessive cutis laxa type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Banf1 barrier to autointegration factor 1 JBrowse link 1 220,744,195 220,746,224 RGD:8554872
G Bles03 basophilic leukemia expressed protein BLES03 JBrowse link 1 220,806,563 220,808,817 RGD:8554872
G Brms1 BRMS1, transcriptional repressor and anoikis regulator JBrowse link 1 220,325,352 220,334,616 RGD:8554872
G Catsper1 cation channel, sperm associated 1 JBrowse link 1 220,715,000 220,724,235 RGD:8554872
G Ccdc85b coiled-coil domain containing 85B JBrowse link 1 220,835,647 220,837,220 RGD:8554872
G Cd248 CD248 molecule JBrowse link 1 220,353,308 220,355,872 RGD:8554872
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 JBrowse link 1 220,474,485 220,480,723 RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:8554872
G Ctsw cathepsin W JBrowse link 1 220,844,579 220,847,967 RGD:8554872
G Drap1 Dr1 associated protein 1 JBrowse link 1 220,803,783 220,806,480 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:7240710
RGD:8554872
G Eif1ad eukaryotic translation initiation factor 1A domain containing JBrowse link 1 220,746,387 220,751,687 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Fosl1 FOS like 1, AP-1 transcription factor subunit JBrowse link 1 220,826,560 220,835,066 RGD:8554872
G Gal3st3 galactose-3-O-sulfotransferase 3 JBrowse link 1 220,668,544 220,678,300 RGD:8554872
G Klc2 kinesin light chain 2 JBrowse link 1 220,492,174 220,502,397 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:8554872
G Rab1b RAB1B, member RAS oncogene family JBrowse link 1 220,483,529 220,491,469 RGD:8554872
G Rin1 Ras and Rab interactor 1 JBrowse link 1 220,335,036 220,342,319 RGD:8554872
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP JBrowse link 1 220,762,496 220,771,158 RGD:8554872
G Sf3b2 splicing factor 3b, subunit 2 JBrowse link 1 220,645,685 220,665,611 RGD:8554872
G Tmem151a transmembrane protein 151A JBrowse link 1 220,373,288 220,378,080 RGD:8554872
G Tsga10ip testis specific 10 interacting protein JBrowse link 1 220,772,592 220,786,952 RGD:8554872
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein JBrowse link 1 220,470,070 220,474,131 RGD:8554872
autosomal recessive cutis laxa type IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 1 84,118,046 84,152,095 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 JBrowse link 4 153,351,434 153,373,558 RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
RGD:13434923
RGD:13434922
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13439710
RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    sensory system disease 4663
      skin disease 2447
        cutis laxa 42
          Autosomal Recessive Cutis Laxa 34
            autosomal recessive cutis laxa type I + 28
            autosomal recessive cutis laxa type II classic type + 3
            autosomal recessive cutis laxa type IIB 1
            autosomal recessive cutis laxa type III + 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          skin disease 2447
            Genetic Skin Diseases 752
              cutis laxa 42
                Autosomal Recessive Cutis Laxa 34
                  autosomal recessive cutis laxa type I + 28
                  autosomal recessive cutis laxa type II classic type + 3
                  autosomal recessive cutis laxa type IIB 1
                  autosomal recessive cutis laxa type III + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.