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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: 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 BAF nuclear assembly 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
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 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:13434922
RGD:13434923
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 15992
    sensory system disease 4969
      skin disease 2651
        cutis laxa 41
          Autosomal Recessive Cutis Laxa 34
            autosomal recessive cutis laxa type I + 28
            autosomal recessive cutis laxa type II classic type + 5
            autosomal recessive cutis laxa type III + 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          skin disease 2651
            Genetic Skin Diseases 883
              cutis laxa 41
                Autosomal Recessive Cutis Laxa 34
                  autosomal recessive cutis laxa type I + 28
                  autosomal recessive cutis laxa type II classic type + 5
                  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.