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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:Premature Aging
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Accession:DOID:9002644 term browser browse the term
Definition:Changes in the organism associated with senescence, occurring at an accelerated rate.
Synonyms:primary_id: MESH:D019588
 alt_id: RDO:0007285


show annotations for term's descendants           Sort by:
Premature Aging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23129026 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO RGD PMID:17227869 RGD:10043350 NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:21359432 RGD:6480478 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:21359432 RGD:6480478 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO RGD PMID:16847346 RGD:10043345 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO RGD PMID:12533509 RGD:10059406 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Bub3 BUB3 mitotic checkpoint protein ISO RGD PMID:16476774 RGD:10059413 NCBI chr 1:186,330,358...186,340,969
Ensembl chr 1:186,327,931...186,395,036 		JBrowse link
G Cdc14b cell division cycle 14B ISO RGD PMID:21262768 RGD:10059338 NCBI chr17:844,686...934,787
Ensembl chr17:844,685...933,235 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:23207764 RGD:10043192 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO protein:increased expression:skin RGD PMID:21108731 PMID:23207764 RGD:10043189, RGD:10043192 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Coq7 coenzyme Q7, hydroxylase ISO RGD PMID:19478076 RGD:10402088 NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Eif5a2 eukaryotic translation initiation factor 5A2 ISO RGD PMID:21612665 RGD:10395359 NCBI chr 2:111,728,587...111,746,087
Ensembl chr 2:111,729,323...111,746,087 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:22323595 RGD:10045610 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 IEP mRNA:decreased expression:brain (rat) RGD PMID:22339633 RGD:13208511 NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO mRNA:decreased expression:liver: RGD PMID:18729070 PMID:19500727 RGD:10044240, RGD:10045876 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Foxo1 forkhead box O1 ISO RGD PMID:23673876 RGD:10045361 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO protein:decreased expression:cerebral cortex RGD PMID:16542809 PMID:21903878 RGD:10401826, RGD:10401863 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hells helicase, lymphoid specific ISO RGD PMID:15105378 RGD:10402190 NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:adipose tissue RGD PMID:21828285 RGD:10043099 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:decreased expression:liver: RGD PMID:19500727 RGD:10045876 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 PMID:25550330 PMID:9363890 RGD:10403047 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Mapt microtubule-associated protein tau ISO protein:hyperphosphorylation:brain: RGD PMID:16171847 RGD:10412708 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:23766372 RGD:10412052 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mt1 metallothionein 1 ISO RGD PMID:18410310 RGD:10412323 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:19443193 RGD:10412691 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nudt1 nudix hydrolase 1 ISO mRNA, protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr12:14,302,514...14,309,559
Ensembl chr12:14,302,694...14,305,826 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:15164064 RGD:8694320 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Tp53 tumor protein p53 ISO mRNA:decreased expression:liver: RGD PMID:19500727 RGD:10045876 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrn WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21267443 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
branchiootic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Branchiootic dysplasia		 CTD
ClinVar		 PMID:9361030 PMID:10464653 PMID:10991693 PMID:15146463 PMID:18220287 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Inner ear malformation ClinVar PMID:29955957 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
Branchiootic Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1 OMIM
ClinVar		 PMID:9359046 PMID:9361030 PMID:9536098 PMID:10464653 PMID:10655545 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome 1 ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
Branchiootic Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mnat1 MNAT1 component of CDK activating kinase ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chr 6:91,814,703...91,971,945
Ensembl chr 6:91,814,749...91,970,744 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Six4 SIX homeobox 4 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:25414181 PMID:28492532 NCBI chr 6:91,802,328...91,816,002
Ensembl chr 6:91,802,329...91,815,992 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:25414181 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Trmt5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chr 6:91,963,558...91,987,660
Ensembl chr 6:91,943,724...91,987,555 		JBrowse link
branchiootorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO
ISS		 ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,introns:multiple
DNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human)		 MouseDO
ClinVar
CTD
RGD		 PMID:2773990 PMID:9020840 PMID:9361030 PMID:9536098 PMID:9603436 More... RGD:1598917, RGD:8554897, RGD:8554880 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Six1 SIX homeobox 1 ISO
ISS		 DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human)
ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human)
DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human)
DNA:mutation:cds:c.364T>A (p.W122R)(human)
DNA:mutation:cds:p.E121G(mouse)		 MouseDO
ClinVar
CTD
RGD		 PMID:18330911 PMID:24164807 PMID:25741868 PMID:15141091 PMID:21280147 More... RGD:8554876, RGD:11064057, RGD:8554882, RGD:8554880, RGD:8554879 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Six5 SIX homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:78,740,812...78,745,890
Ensembl chr 1:78,741,367...78,745,890 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melnick-Fraser syndrome		 CTD
ClinVar		 PMID:19685247 PMID:30311386 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
branchiootorenal syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 1 OMIM
ClinVar		 PMID:2773990 PMID:5365063 PMID:9020840 PMID:9361030 PMID:9536098 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
branchiootorenal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six5 SIX homeobox 5 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 2 OMIM
ClinVar		 PMID:17357085 PMID:21280147 PMID:24429398 PMID:25741868 PMID:26467025 More... NCBI chr 1:78,740,812...78,745,890
Ensembl chr 1:78,741,367...78,745,890 		JBrowse link
Congenital Progeroid Syndrome, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Fontaine progeroid syndrome OMIM
ClinVar		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231 		JBrowse link
Lessel-Kubisch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdm2 MDM2 proto-oncogene ISO ClinVar Annotator: match by term: Lessel-kubisch syndrome ClinVar
OMIM		 PMID:28846075 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25583476 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465 		JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia OMIM
ClinVar		 PMID:32917887 NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201 		JBrowse link
Nestor-Guillermo progeria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome		 OMIM
CTD
ClinVar		 PMID:21549337 PMID:23720404 PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
Otofaciocervical Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otofaciocervical syndrome 1		 OMIM
CTD
ClinVar		 PMID:9361030 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11734542 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Pax1 paired box 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636 		JBrowse link
Otofaciocervical Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Otofaciocervical syndrome 2 OMIM
ClinVar		 PMID:1889089 PMID:23851939 PMID:25741868 PMID:28492532 PMID:28657137 More... NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636 		JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
progeria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr17:26,148,652...26,159,358
Ensembl chr17:26,148,633...26,215,720 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:20805469 PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Lmna lamin A/C ISO
ISS		 ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
OMIM:176670
CTD Direct Evidence: marker/mechanism
DNA:silent mutation:cds:c.1824C>T (human)
DNA:missense mutations, silent mutation:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations:cds:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 PMID:9500556 More... RGD:12791022, RGD:10003159, RGD:10003158, RGD:10003156, RGD:10003154, RGD:737720 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
G Sirt6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Vcpip1 valosin containing protein interacting protein 1 ISS OMIM:176670 MouseDO NCBI chr 5:9,534,247...9,560,889
Ensembl chr 5:9,534,129...9,562,040 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:176670		 CTD
MouseDO		 PMID:23217256 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
Progeria Syndrome, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome		 OMIM
CTD
ClinVar		 PMID:12503110 PMID:25261934 PMID:25741868 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
Werner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:19741171 RGD:10402544 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Lmna lamin A/C ISO atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) RGD PMID:12927431 RGD:12791031 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Werner syndrome ClinVar PMID:25741868 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Purg purine-rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chr16:58,732,327...58,763,356
Ensembl chr16:58,720,335...58,763,359 		JBrowse link
G Wrn WRN RecQ like helicase ISO
ISS		 OMIM:277700
ClinVar Annotator: match by term: Werner syndrome
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 More... RGD:1580825 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    Diseases of the Aged 1469
      Premature Aging 70
        Lessel-Kubisch Syndrome 1
        Premature Aging, Okamoto Type 0
        Werner syndrome + 5
        Wolfram syndrome 2 2
        branchiootorenal syndrome + 13
        progeria + 20
Path 2
Term Annotations click to browse term
  disease 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Premature Aging 70
          Lessel-Kubisch Syndrome 1
          Premature Aging, Okamoto Type 0
          Werner syndrome + 5
          Wolfram syndrome 2 2
          branchiootorenal syndrome + 13
          progeria + 20
paths to the root