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
Accession: DOID:9002644
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
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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Arntl
aryl hydrocarbon receptor nuclear translocator-like
ISO
RGD
PMID:16847346
RGD:10043345
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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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
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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
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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
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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
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Cdc14b
cell division cycle 14B
ISO
RGD
PMID:21262768
RGD:10059338
NCBI chr17:844,731...934,787
Ensembl chr17:844,685...933,235
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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
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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
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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
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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
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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
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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
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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
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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
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Fgf23
fibroblast growth factor 23
ISO
mRNA:decreased expression:liver:
RGD
PMID:18729070 PMID:19500727
RGD:10044240 , RGD:10045876
NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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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
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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
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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
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:adipose tissue
RGD
PMID:21828285
RGD:10043099
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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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
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Igf1r
insulin-like growth factor 1 receptor
ISO
mRNA:decreased expression:liver:
RGD
PMID:19500727
RGD:10045876
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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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
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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
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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
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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
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:19443193
RGD:10412691
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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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
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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
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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
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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
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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
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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:10991693 PMID:15146463 PMID:18220287 PMID:24033266 PMID:24123792 PMID:24429398 PMID:25741868 PMID:26489027 PMID:28492532 PMID:29966037 PMID:31049720 More...
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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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
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Six1
SIX homeobox 1
ISS
OMIM:120502 | OMIM:602588 | OMIM:608389
MouseDO
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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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:10464653 PMID:10655545 PMID:10991693 PMID:11734542 PMID:12701758 PMID:15146463 PMID:15493068 PMID:15802522 PMID:16691597 PMID:16797546 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19951260 PMID:21280147 PMID:22340499 PMID:22447252 PMID:23435380 PMID:23552953 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26969326 PMID:27657687 PMID:28492532 PMID:29966037 PMID:30311386 PMID:31049720 More...
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Six1
SIX homeobox 1
ISO
ClinVar Annotator: match by term: Branchiootic syndrome 1
ClinVar
PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 PMID:24033266 PMID:25741868 More...
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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Six1
SIX homeobox 1
ISO
ClinVar Annotator: match by term: Branchiootic syndrome 3
OMIM ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 PMID:17637804 PMID:19497856 PMID:21254961 PMID:21280147 PMID:21700001 PMID:24033266 PMID:24164807 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30311386 More...
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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Six4
SIX homeobox 4
ISO
ClinVar Annotator: match by term: Branchiootic syndrome 3
ClinVar
PMID:28492532
NCBI chr 6:91,802,328...91,816,062
Ensembl chr 6:91,802,329...91,815,992
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by term: Branchiootic syndrome 3
ClinVar
PMID:28492532
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Clrn1
clarin 1
ISO
ClinVar Annotator: match by term: Melnick-Fraser syndrome
ClinVar
PMID:30311386
NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
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)
ClinVar CTD RGD
PMID:2773990 PMID:9020840 PMID:9361030 PMID:9536098 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11734542 PMID:12834866 PMID:15146463 PMID:15802522 PMID:16199547 PMID:16491411 PMID:16691597 PMID:16797546 PMID:17576681 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19206155 PMID:19951260 PMID:20848651 PMID:21280147 PMID:22340499 PMID:22382802 PMID:23435380 PMID:23508780 PMID:23552953 PMID:23840632 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26310487 PMID:26467025 PMID:26489027 PMID:26969326 PMID:27657687 PMID:28492532 PMID:29500469 PMID:29966037 PMID:30311386 PMID:30655312 PMID:30937553 PMID:31427586 PMID:33240318 PMID:9361030 PMID:16491411 PMID:17637804 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
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Six1
SIX homeobox 1
ISO
DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human) CTD Direct Evidence: marker/mechanism DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human) ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders 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)
CTD ClinVar RGD
PMID:15141091 PMID:21280147 PMID:18330911 PMID:17637804 PMID:19389353
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
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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
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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
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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...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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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 PMID:9603436 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11734542 PMID:15146463 PMID:15802522 PMID:16691597 PMID:16797546 PMID:17576681 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19206155 PMID:19951260 PMID:20848651 PMID:21280147 PMID:22340499 PMID:22382802 PMID:23435380 PMID:23967202 PMID:24033266 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26969326 PMID:27657687 PMID:28492532 PMID:29500469 PMID:30655312 PMID:30937553 PMID:31049720 PMID:33532864 More...
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Six1
SIX homeobox 1
ISS ISO
OMIM:113650 ClinVar Annotator: match by term: Branchiootorenal syndrome 1
MouseDO ClinVar
PMID:12843324 PMID:15141091 PMID:19497856 PMID:25326635 PMID:25741868
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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Six5
SIX homeobox 5
ISO
ClinVar Annotator: match by term: Branchiootorenal syndrome 2
OMIM ClinVar
PMID:17357085 PMID:21280147 PMID:25741868 PMID:27657687 PMID:28492532
NCBI chr 1:78,740,812...78,745,890
Ensembl chr 1:78,741,367...78,745,890
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II CTD Direct Evidence: marker/mechanism DNA:nonsense mutation DNA:point mutation: :c.3862C>T (human)
OMIM ClinVar CTD RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:10196384 PMID:10739753 PMID:10767341 PMID:11809892 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:25136123 PMID:25326635 PMID:25741868 PMID:25820262 PMID:26206375 PMID:27004399 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31501894 PMID:32557569 PMID:10739753 PMID:20456449 More...
RGD:10401101 , RGD:10401092
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:missense mutations:p.R616W, p.D681N (human) ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar OMIM RGD
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:11443545 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27396511 PMID:28492532 PMID:29169765 PMID:29478780 PMID:11443545 More...
RGD:1601070
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3
OMIM ClinVar
PMID:8818951 PMID:11443545 PMID:17466625 PMID:24700531 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31130284 More...
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
OMIM ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Polr1g
RNA polymerase I subunit G
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar
PMID:25741868 PMID:28492532 PMID:33116287
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Cockayne syndrome
ClinVar
PMID:17273966 PMID:23623389
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse)
RGD
PMID:16904611
RGD:10401080
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
RGD
PMID:19114557
RGD:10401087
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Ercc5
ERCC excision repair 5, endonuclease
ISO
RGD
PMID:15082767
RGD:10401090
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
DNA:insertion: :c.1034_1035insT (human) ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human) DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
ClinVar CTD RGD
PMID:9443879 PMID:10739753 PMID:10767341 PMID:16199547 PMID:18414213 PMID:18628313 PMID:20122405 PMID:22466610 PMID:22466612 PMID:25440059 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26972010 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:31501894 PMID:32557569 PMID:18446857 PMID:25463447 PMID:23599700 More...
RGD:10401095 , RGD:11567232 , RGD:10401100
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Y322X (human)
ClinVar CTD RGD
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:22466610 PMID:22466612 PMID:24033266 PMID:25333069 PMID:25741868 PMID:28492532 PMID:29572252 PMID:30182135 PMID:30871974 PMID:22824526 PMID:19894250 PMID:21108394 More...
RGD:7246919 , RGD:11064547 , RGD:10401108
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Ghr
growth hormone receptor
ISO
RGD
PMID:17326724
RGD:10003139
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Igf1
insulin-like growth factor 1
ISO
RGD
PMID:17326724
RGD:10003139
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Ndufaf2
NADH:ubiquinone oxidoreductase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism
ClinVar
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:24033266 PMID:25333069 PMID:25741868 PMID:28492532 PMID:29572252 More...
NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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Xpa
XPA, DNA damage recognition and repair factor
ISO
RGD
PMID:19114557
RGD:10401087
NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
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Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1
ClinVar OMIM RGD
PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 PMID:16199547 PMID:16865293 PMID:17576681 PMID:18414213 PMID:18695064 PMID:19309286 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21108394 PMID:21681106 PMID:21924235 PMID:22099533 PMID:22829088 PMID:24033266 PMID:25333069 PMID:25525159 PMID:25741868 PMID:26616585 PMID:27004399 PMID:27597947 PMID:28492532 PMID:29057985 PMID:29422660 PMID:29572252 PMID:29742419 PMID:30182135 PMID:30200888 PMID:30871974 PMID:31319225 PMID:32048102 PMID:32557569 PMID:33199595 PMID:16865293 More...
RGD:10401106
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Ndufaf2
NADH:ubiquinone oxidoreductase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1
ClinVar
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21681106 PMID:21924235 PMID:22099533 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27597947 PMID:28492532 PMID:29572252 More...
NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO IMP
ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B
OMIM ClinVar RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 PMID:9443879 PMID:9536098 PMID:9777763 PMID:10196384 PMID:10767341 PMID:11809892 PMID:15486090 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18446857 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22466610 PMID:22483866 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:25136123 PMID:25251875 PMID:25326635 PMID:25741868 PMID:25820262 PMID:26206375 PMID:27004399 PMID:27356891 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31501894 PMID:32557569 PMID:32860008 PMID:31644904 More...
RGD:126925983
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc6em1Cgen
ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen
IMP
RGD
PMID:31644904
RGD:126925983
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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 PMID:28492532 PMID:29100093 PMID:29100094 More...
NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231
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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
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
OMIM ClinVar
PMID:24033266 PMID:25583476 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976 PMID:31780696 More...
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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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
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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 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22855961 PMID:23965854 PMID:25339210 PMID:25741868 PMID:25898808 PMID:27029625 PMID:27612211 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32582862 PMID:32860008 More...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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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 PMID:21834030 PMID:23963297 PMID:24035636 PMID:25741868 PMID:28492532 PMID:30450527 PMID:32860008 More...
NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
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Banf1
BAF nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
OMIM 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
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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
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Otofaciocervical syndrome 1
OMIM ClinVar
PMID:9361030 PMID:10655545 PMID:10991693 PMID:11734542 PMID:12701758 PMID:15146463 PMID:15802522 PMID:16441263 PMID:16797546 PMID:18220287 PMID:18678597 PMID:19951260 PMID:22340499 PMID:22447252 PMID:23435380 PMID:23552953 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25741868 PMID:26310487 PMID:26467025 PMID:26489027 PMID:28492532 PMID:29966037 PMID:30311386 PMID:31049720 More...
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Pax1
paired box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:134,789,291...134,801,636
Ensembl chr 3:134,789,182...134,801,636
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Pax1
paired box 1
ISO
ClinVar Annotator: match by term: Otofaciocervical syndrome 2
OMIM ClinVar
PMID:23851939 PMID:25741868 PMID:28492532 PMID:28657137 PMID:29681087 PMID:32111619 More...
NCBI chr 3:134,789,291...134,801,636
Ensembl chr 3:134,789,182...134,801,636
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: PENTTINEN SYNDROME | ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
OMIM ClinVar
PMID:9056558 PMID:9536098 PMID:15054839 PMID:17576681 PMID:23720404 PMID:23731537 PMID:23731542 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:31017643 More...
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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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
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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
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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 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29403087 PMID:29892709 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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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
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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
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome 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 CTD RGD
PMID:1849984 PMID:2338570 PMID:9536098 PMID:10580070 PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11901143 PMID:12467734 PMID:12629077 PMID:12702809 PMID:12714972 PMID:12768443 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14659775 PMID:14675861 PMID:14684700 PMID:15032975 PMID:15121795 PMID:15140538 PMID:15184648 PMID:15317753 PMID:15342704 PMID:15475483 PMID:15726408 PMID:15793835 PMID:15982412 PMID:15998779 PMID:16061563 PMID:16126733 PMID:16174718 PMID:16440304 PMID:16738054 PMID:16965317 PMID:17076270 PMID:17274801 PMID:17347251 PMID:17377071 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17536044 PMID:17576681 PMID:17711925 PMID:18414213 PMID:18549403 PMID:18564364 PMID:18585512 PMID:18606848 PMID:18646565 PMID:18795223 PMID:18796515 PMID:19172989 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19842191 PMID:20160190 PMID:20301609 PMID:20580717 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21173262 PMID:21251803 PMID:21738662 PMID:21875900 PMID:22065502 PMID:22148005 PMID:22186027 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22331516 PMID:22464770 PMID:22611635 PMID:22685055 PMID:22893709 PMID:22918509 PMID:23141186 PMID:23183350 PMID:23217256 PMID:23299917 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23659872 PMID:23666920 PMID:23804595 PMID:23853504 PMID:23861362 PMID:23969228 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24305605 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24639906 PMID:24642510 PMID:24687084 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25214167 PMID:25286833 PMID:25326635 PMID:25556323 PMID:25567453 PMID:25637381 PMID:25649378 PMID:25741868 PMID:25946677 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26670336 PMID:26752647 PMID:27334370 PMID:27374873 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28229933 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28878338 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29703891 PMID:29791652 PMID:30165862 PMID:30528549 PMID:30847666 PMID:30871747 PMID:30911407 PMID:31006814 PMID:31303467 PMID:31383942 PMID:31829210 PMID:31857427 PMID:32297714 PMID:32376792 PMID:32880476 PMID:32943904 PMID:12702809 PMID:12768443 PMID:15608054 PMID:15286156 PMID:19875478 PMID:12748643 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
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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
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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
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Sprtn
SprT-like N-terminal domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25261934
NCBI chr19:52,857,599...52,864,864
Ensembl chr19:52,857,866...52,864,864
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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
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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
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23217256
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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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 PMID:14615128 PMID:16174718 PMID:28492532 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Sprtn
SprT-like N-terminal domain
ISO
ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome
OMIM ClinVar
PMID:12503110 PMID:25261934 PMID:25741868
NCBI chr19:52,857,599...52,864,864
Ensembl chr19:52,857,866...52,864,864
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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
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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
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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
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Wrn
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Werner syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 PMID:9225981 PMID:9241267 PMID:9450180 PMID:9536098 PMID:10069711 PMID:10220139 PMID:10347997 PMID:10543396 PMID:10628995 PMID:10811130 PMID:11420665 PMID:12244128 PMID:12827497 PMID:15489508 PMID:15609317 PMID:15888165 PMID:16199547 PMID:16673358 PMID:16786514 PMID:17478382 PMID:17576681 PMID:18414213 PMID:18810497 PMID:19763152 PMID:19824023 PMID:20157511 PMID:20301687 PMID:20307669 PMID:20443122 PMID:20657174 PMID:20802463 PMID:20855428 PMID:21267443 PMID:21389352 PMID:22188495 PMID:22406018 PMID:22766507 PMID:23045531 PMID:23849162 PMID:23936869 PMID:24033266 PMID:24429382 PMID:24463507 PMID:24728327 PMID:25018888 PMID:25059010 PMID:25182132 PMID:25390333 PMID:25637295 PMID:25741868 PMID:25927356 PMID:26296701 PMID:26344056 PMID:26546047 PMID:26695548 PMID:26901136 PMID:27084275 PMID:27153395 PMID:27559010 PMID:27667302 PMID:28202063 PMID:28276523 PMID:28492532 PMID:28795391 PMID:28861129 PMID:29753700 PMID:30140198 PMID:16673358 More...
RGD:1580825
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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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:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:29237418 PMID:17846994 PMID:19451219 More...
RGD:10045603 , RGD:10045601
NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
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Slc9b1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293
NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome
ClinVar
PMID:2478446 PMID:8317483 PMID:11228268 PMID:25741868
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISS
OMIM:610965
MouseDO
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: XFE progeroid syndrome
OMIM ClinVar
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29403087 PMID:29892709 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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