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
Accession: DOID:0070133
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
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B4gat1
beta-1,4-glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021
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Banf1
BAF nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,435,143...20,436,830
Ensembl chrNW_004624767:20,434,955...20,436,640
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Brms1
BRMS1 transcriptional repressor and anoikis regulator
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,036,190...20,043,871
Ensembl chrNW_004624767:20,036,256...20,043,876
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Catsper1
cation channel sperm associated 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,410,216...20,420,303
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Ccdc85b
coiled-coil domain containing 85B
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,525,728...20,527,337
Ensembl chrNW_004624767:20,525,942...20,526,550
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Cd248
CD248 molecule
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,060,917...20,063,804
Ensembl chrNW_004624767:20,060,961...20,063,594
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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_004624767:20,084,526...20,090,225
Ensembl chrNW_004624767:20,084,501...20,090,209
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Cst6
cystatin E/M
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,423,007...20,424,773
Ensembl chrNW_004624767:20,422,390...20,424,690
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Ctsw
cathepsin W
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,533,448...20,537,706
Ensembl chrNW_004624767:20,533,487...20,538,436
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CUNH11orf68
chromosome unknown C11orf68 homolog
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,501,920...20,504,158
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Drap1
DR1 associated protein 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,484,318...20,501,763
Ensembl chrNW_004624767:20,496,930...20,502,511
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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 PMID:16685658 PMID:17576681 PMID:17937443 PMID:19664000 PMID:20389311 PMID:21563328 PMID:22440127 PMID:22943132 PMID:23532871 PMID:24033266 PMID:24276535 PMID:25741868 PMID:25907466 PMID:26017485 PMID:27339457 PMID:28454995 PMID:28492532 PMID:28673110 PMID:29620724 PMID:30140196 PMID:31127727 PMID:31589614 PMID:34901216 More...
NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341
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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_004624767:20,436,929...20,439,796
Ensembl chrNW_004624767:20,437,053...20,439,796
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Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,528,750...20,533,272
Ensembl chrNW_004624767:20,528,786...20,533,266
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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_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554
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Gal3st3
galactose-3-O-sulfotransferase 3
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,342,925...20,350,892
Ensembl chrNW_004624767:20,342,446...20,350,842
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Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:25741868
NCBI chrNW_004624874:2,157,291...2,444,786
Ensembl chrNW_004624874:2,157,524...2,444,111
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Klc2
kinesin light chain 2
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,099,758...20,109,539
Ensembl chrNW_004624767:20,099,647...20,109,593
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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
NCBI chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866
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Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967
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Rab1b
RAB1B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,091,120...20,098,855
Ensembl chrNW_004624767:20,090,441...20,098,913
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Rin1
Ras and Rab interactor 1
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,044,056...20,050,868
Ensembl chrNW_004624767:20,044,820...20,051,764
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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_004624767:20,456,951...20,466,994
Ensembl chrNW_004624767:20,456,890...20,467,641
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Sf3b2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164
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Tmem151a
transmembrane protein 151A
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,072,609...20,077,454
Ensembl chrNW_004624767:20,072,493...20,078,233
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Tsga10ip
testis specific 10 interacting protein
ISO
ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
ClinVar
PMID:28492532
NCBI chrNW_004624767:20,469,228...20,478,733
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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_004624767:20,079,394...20,084,170
Ensembl chrNW_004624767:20,079,233...20,084,170
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