Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:cutis laxa
go back to main search page
Accession:DOID:3144 term browser browse the term
Definition:A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. (DO)
Synonyms:exact_synonym: dermatolyses;   dermatolysis;   dermatomegaly;   loose skin
 narrow_synonym: CUTIS LAXA, DOMINANT/RECESSIVE
 primary_id: MESH:D003483
 xref: GARD:6227;   MIM:PS123700;   NCI:C84663;   ORDO:209
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:10811882 PMID:10835642 PMID:11536079 PMID:12176944 PMID:12384774 More... NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:15657616 PMID:18157129 PMID:19321599 PMID:20301755 PMID:22773132 More... NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576 		JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 PMID:27023906 PMID:28065471 PMID:28492532 NCBI chrNW_004624735:9,704,600...9,726,297
Ensembl chrNW_004624735:9,703,863...9,726,275 		JBrowse link
G Atp7a ATPase copper transporting alpha susceptibility ISO DNA:splice-site mutation RGD PMID:10739752 RGD:734621 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 PMID:33807164 NCBI chrNW_004624833:5,654,805...5,722,185
Ensembl chrNW_004624833:5,654,016...5,723,519 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Eln elastin ISO associated with lung diseases; DNA:duplication: :
CTD Direct Evidence: marker/mechanism
DNA:deletion mutations:cds:
DNA:deletions:exon:2012del,2039del(human)		 RGD
CTD		 PMID:2745999 PMID:9873040 PMID:12189163 PMID:15381555 PMID:15955094 More... RGD:1580330 RGD:9585732 RGD:9585738 RGD:9585740 RGD:9585761 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:2965322 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 More... NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chrNW_004624774:20,116,625...20,137,767
Ensembl chrNW_004624774:20,116,970...20,134,355 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar NCBI chrNW_004624925:543,656...572,810
Ensembl chrNW_004624925:545,438...573,428 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:16199547 PMID:16233902 PMID:18304158 PMID:19576563 PMID:19648921 More... NCBI chrNW_004624801:10,777,407...10,781,572
Ensembl chrNW_004624801:10,776,747...10,781,614 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624767:1,368,965...1,376,378
Ensembl chrNW_004624767:1,368,965...1,375,586 		JBrowse link
autosomal dominant cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant ClinVar PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 More... NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant ClinVar PMID:3232707 PMID:12189163 PMID:16374472 PMID:16652333 PMID:16691202 More... NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
autosomal dominant cutis laxa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 OMIM
ClinVar		 PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 More... NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
autosomal dominant cutis laxa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 ClinVar
OMIM		 PMID:2965322 PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
autosomal dominant cutis laxa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 OMIM
ClinVar		 PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 ClinVar PMID:21739576 PMID:24913064 PMID:28492532 PMID:28567303 PMID:28604674 More... NCBI chrNW_004624737:7,011,792...7,193,903
Ensembl chrNW_004624737:7,084,818...7,191,918 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 ClinVar PMID:21739576 PMID:24913064 PMID:28492532 PMID:28567303 PMID:28604674 More... NCBI chrNW_004624737:6,980,716...7,011,681
Ensembl chrNW_004624737:6,984,234...7,012,142 		JBrowse link
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Cutis Laxa, Recessive ClinVar PMID:28492532 NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis Laxa, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cutis Laxa, Recessive ClinVar NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis Laxa, Recessive ClinVar NCBI chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis Laxa, Recessive ClinVar NCBI chrNW_004624801:10,777,407...10,781,572
Ensembl chrNW_004624801:10,776,747...10,781,614 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis Laxa, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:23,439,647...23,470,470 JBrowse link
autosomal recessive cutis laxa type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A ClinVar PMID:8985490 PMID:15776121 PMID:16685658 PMID:17937443 PMID:19664000 More... NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A OMIM
ClinVar		 PMID:2965322 PMID:3232707 PMID:12189163 PMID:16374472 PMID:16652333 More... NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A ClinVar PMID:15776121 PMID:20389311 PMID:21563328 PMID:28492532 PMID:31384147 NCBI chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866 		JBrowse link
autosomal recessive cutis laxa type IB term browser
Symbol Object Name Qualifiers 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_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021 		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_004624767:20,435,143...20,436,830
Ensembl chrNW_004624767:20,434,955...20,436,640 		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_004624767:20,036,190...20,043,871
Ensembl chrNW_004624767:20,036,256...20,043,876 		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_004624767:20,410,216...20,420,303 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_004624767:20,525,728...20,527,337
Ensembl chrNW_004624767:20,525,942...20,526,550 		JBrowse link
G 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 		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_004624767:20,084,526...20,090,225
Ensembl chrNW_004624767:20,084,501...20,090,209 		JBrowse link
G 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 		JBrowse link
G 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 		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_004624767:20,501,920...20,504,158 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_004624767:20,484,318...20,501,763
Ensembl chrNW_004624767:20,496,930...20,502,511 		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_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		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_004624767:20,436,929...20,439,796
Ensembl chrNW_004624767:20,437,053...20,439,796 		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_004624767:20,528,750...20,533,272
Ensembl chrNW_004624767:20,528,786...20,533,266 		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_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554 		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_004624767:20,342,925...20,350,892
Ensembl chrNW_004624767:20,342,446...20,350,842 		JBrowse link
G 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 		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_004624767:20,099,758...20,109,539
Ensembl chrNW_004624767:20,099,647...20,109,593 		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_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866 		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_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967 		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_004624767:20,091,120...20,098,855
Ensembl chrNW_004624767:20,090,441...20,098,913 		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_004624767:20,044,056...20,050,868
Ensembl chrNW_004624767:20,044,820...20,051,764 		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_004624767:20,456,951...20,466,994
Ensembl chrNW_004624767:20,456,890...20,467,641 		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_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164 		JBrowse link
G 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 		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_004624767:20,469,228...20,478,733 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_004624767:20,079,394...20,084,170
Ensembl chrNW_004624767:20,079,233...20,084,170 		JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC | ClinVar Annotator: match by term: LTBP4-related condition ClinVar
OMIM		 PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624925:543,656...572,810
Ensembl chrNW_004624925:545,438...573,428 		JBrowse link
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy OMIM
ClinVar		 PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chrNW_004624747:23,439,647...23,470,470 JBrowse link
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES OMIM
ClinVar		 PMID:11424136 PMID:16045708 PMID:16199547 PMID:16233902 PMID:18304158 More... NCBI chrNW_004624801:10,777,407...10,781,572
Ensembl chrNW_004624801:10,776,747...10,781,614 		JBrowse link
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: ATP6V1E1-related condition | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC ClinVar
OMIM		 PMID:25741868 PMID:27023906 PMID:28065471 PMID:28492532 NCBI chrNW_004624735:9,704,600...9,726,297
Ensembl chrNW_004624735:9,703,863...9,726,275 		JBrowse link
autosomal recessive cutis laxa type IID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID OMIM
ClinVar		 PMID:24459010 PMID:25741868 PMID:28065471 PMID:28492532 PMID:39825153 NCBI chrNW_004624731:34,721,142...34,780,632 JBrowse link
Autosomal Recessive Cutis Laxa Type IIE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE OMIM
ClinVar		 PMID:25741868 PMID:33991472 NCBI chrNW_004624738:14,602,790...15,035,610
Ensembl chrNW_004624738:14,602,805...15,034,805 		JBrowse link
autosomal recessive cutis laxa type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome ClinVar PMID:8779323 PMID:9536098 PMID:11092761 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A OMIM
ClinVar		 PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition OMIM
ClinVar		 PMID:4076251 PMID:9536098 PMID:16199547 PMID:16233902 PMID:17576681 More... NCBI chrNW_004624801:10,777,407...10,781,572
Ensembl chrNW_004624801:10,776,747...10,781,614 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb tubulin beta class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chrNW_004624754:25,001,555...25,005,459
Ensembl chrNW_004624754:25,001,552...25,005,464 		JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule associated protein RP/EB family member 2 ISO ClinVar Annotator: match by term: MAPRE2-related condition | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:28492532 More... NCBI chrNW_004624779:9,405,794...9,585,749 JBrowse link
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1d OMIM
ClinVar		 PMID:22489068 PMID:25741868 PMID:28492532 PMID:31792352 PMID:32006683 More... NCBI chrNW_004624833:5,654,805...5,722,185
Ensembl chrNW_004624833:5,654,016...5,723,519 		JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS OMIM
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chrNW_004624741:20,338,306...20,537,500
Ensembl chrNW_004624741:20,441,972...20,536,464 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chrNW_004624754:25,001,555...25,005,459
Ensembl chrNW_004624754:25,001,552...25,005,464 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome OMIM
ClinVar		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
wrinkly skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Wrinkly skin syndrome OMIM
ClinVar		 PMID:18157129 PMID:20301755 PMID:25741868 PMID:28492532 NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    sensory system disease 6543
      skin disease 3824
        cutis laxa 47
          Autosomal Recessive Cutis Laxa + 37
          Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
          Cutis Laxa-Marfanoid Syndrome 0
          Generalized Elastolysis 0
          Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
          SCARF Syndrome 0
          autosomal dominant cutis laxa + 5
          multiple benign circumferential skin creases on limbs + 2
          occipital horn syndrome 1
          wrinkly skin syndrome 1
Path 2
Term Annotations click to browse term
  disease 14230
    Pathological Conditions, Signs and Symptoms 11248
      Signs and Symptoms 9473
        Neurologic Manifestations 9180
          sensory system disease 6543
            skin disease 3824
              Genetic Skin Diseases 1732
                cutis laxa 47
                  Autosomal Recessive Cutis Laxa + 37
                  Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
                  Cutis Laxa-Marfanoid Syndrome 0
                  Generalized Elastolysis 0
                  Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                  SCARF Syndrome 0
                  autosomal dominant cutis laxa + 5
                  multiple benign circumferential skin creases on limbs + 2
                  occipital horn syndrome 1
                  wrinkly skin syndrome 1
paths to the root