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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:cutis laxa
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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.


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 chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		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 chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		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 chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584 		JBrowse link
G Atp7a ATPase copper transporting alpha susceptibility ISO RGD PMID:10739752 RGD:734621 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		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 chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS
ISO		 OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438
ClinVar Annotator: match by term: Cutis laxa		 MouseDO
ClinVar		 PMID:25741868 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion mutations:cds:
associated with lung diseases; DNA:duplication: :
DNA:deletions:exon:2012del,2039del(human)		 CTD
RGD		 PMID:12189163 PMID:15381555 PMID:23442826 PMID:15955094 PMID:9873040 More... RGD:1580330, RGD:9585761, RGD:9585740, RGD:9585738, RGD:9585732 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbln5 fibulin 5 ISO
ISS		 DNA:missense mutation:cds:p.S227P (human)
ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa
OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438		 ClinVar
MouseDO
RGD		 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... RGD:1300360 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISS
ISO		 OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438
ClinVar Annotator: match by term: Cutis laxa		 MouseDO
ClinVar		 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa		 CTD
ClinVar		 PMID:16199547 PMID:16233902 PMID:18304158 PMID:19576563 PMID:19648921 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		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 chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant		 CTD
ClinVar		 PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 More... NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant		 CTD
ClinVar		 PMID:3232707 PMID:12189163 PMID:16374472 PMID:16652333 PMID:16691202 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		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 chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		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 OMIM
ClinVar		 PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		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 chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		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 chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		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 chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272 		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 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		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 chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		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 chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		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:3232707 PMID:12189163 PMID:16374472 PMID:16652333 PMID:16691202 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		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 NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		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 chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		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 chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804 		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 chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028 		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 chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		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 chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240 		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 chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425 		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 chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		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 chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399 		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 chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		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 chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445 		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 chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672 		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 NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		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 chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		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 chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868 		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 chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		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 chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136 		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 chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		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 chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798 		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 chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More... NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11424136 PMID:16045708 PMID:16233902 PMID:18304158 PMID:18348262 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		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: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC OMIM
ClinVar		 PMID:25741868 PMID:27023906 PMID:28065471 PMID:28492532 NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584 		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 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694 		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 chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349 		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 DNA:deletions:cds:
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
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)		 ClinVar
RGD		 PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 More... RGD:13434922, RGD:13434923 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		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 DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A		 ClinVar
OMIM
RGD		 PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... RGD:13439710 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		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 chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		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 Tubb5 tubulin, beta 5 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 chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		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: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734 NCBI chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044 		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 chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604 		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 Tubb5 tubulin, beta 5 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 chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		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
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11340205, RGD:11252184 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18157129 PMID:20301755 PMID:25741868 PMID:28492532 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      skin disease 4309
        cutis laxa 48
          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 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            skin disease 4309
              Genetic Skin Diseases 1879
                cutis laxa 48
                  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