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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: OMIM:614437
 alt_id: RDO:9000260
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 IB ClinVar PMID:28492532 NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,494...6,045,818
JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,333,451...6,335,326 JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,672
JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,409,490...6,414,286
JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,312,906...6,321,690
Ensembl chr 2:6,312,906...6,321,690
JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,436,787...6,437,828
Ensembl chr 2:6,436,794...6,437,808
JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,070,885...6,073,518
Ensembl chr 2:6,070,897...6,074,146
JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,102,347...6,109,424 JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,737...6,325,477
JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,446,105...6,450,357
Ensembl chr 2:6,446,105...6,450,360
JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,625...6,412,395
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO OMIM NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,493
JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173
JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,297,797...6,306,200
Ensembl chr 2:6,297,855...6,306,198
JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,102,353...6,126,951
JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1B
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
ClinVar PMID:15776121, PMID:20389311, PMID:25741868, PMID:28492532 NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,138,345...6,277,309
Ensembl chr 2:6,138,348...6,211,684
JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,110,438...6,116,443
Ensembl chr 2:6,102,353...6,126,951
JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,053,875...6,061,051 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 IB ClinVar PMID:28492532 NCBI chr 2:6,355,690...6,373,342
Ensembl chr 2:6,354,908...6,373,274
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,535...6,095,355
JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,374,617...6,391,457
Ensembl chr 2:6,375,377...6,387,488
JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12618
    sensory system disease 4777
      skin disease 2495
        cutis laxa 41
          Autosomal Recessive Cutis Laxa 34
            autosomal recessive cutis laxa type I 28
              autosomal recessive cutis laxa type IB 26
Path 2
Term Annotations click to browse term
  disease 12618
    disease of anatomical entity 12151
      nervous system disease 9917
        sensory system disease 4777
          skin disease 2495
            Genetic Skin Diseases 823
              cutis laxa 41
                Autosomal Recessive Cutis Laxa 34
                  autosomal recessive cutis laxa type I 28
                    autosomal recessive cutis laxa type IB 26
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.