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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO RGD PMID:17227869 RGD:10043350 NCBI chr 3:80,555,196...80,576,881
Ensembl chr 3:80,555,196...80,576,856
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO RGD PMID:16847346 RGD:10043345 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:21359432 RGD:6480478 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:21359432 RGD:6480478 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO RGD PMID:12533509 RGD:10059406 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Bub3 BUB3 mitotic checkpoint protein ISO RGD PMID:16476774 RGD:10059413 NCBI chr 1:203,526,853...203,537,459
Ensembl chr 1:203,524,426...203,557,337
JBrowse link
G Cdc14b cell division cycle 14B ISO RGD PMID:21262768 RGD:10059338 NCBI chr17:1,709,703...1,797,732
Ensembl chr17:1,703,943...1,797,750
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:23207764 RGD:10043192 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Coq7 coenzyme Q7, hydroxylase ISO RGD PMID:19478076 RGD:10402088 NCBI chr 1:188,176,060...188,190,874
Ensembl chr 1:188,174,874...188,190,860
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Eif5a2 eukaryotic translation initiation factor 5A2 ISO RGD PMID:21612665 RGD:10395359 NCBI chr 2:115,336,646...115,354,203
Ensembl chr 2:115,337,439...115,354,203
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:22323595 RGD:10045610 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Ext1 exostosin glycosyltransferase 1 IEP mRNA:decreased expression:brain (rat) RGD PMID:22339633 RGD:13208511 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO mRNA:decreased expression:liver: RGD PMID:18729070, PMID:19500727 RGD:10044240, RGD:10045876 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Foxo1 forkhead box O1 ISO RGD PMID:23673876 RGD:10045361 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO protein:decreased expression:cerebral cortex RGD PMID:16542809, PMID:21903878 RGD:10401826, RGD:10401863 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hells helicase, lymphoid specific ISO RGD PMID:15105378 RGD:10402190 NCBI chr 1:257,901,856...257,953,889
Ensembl chr 1:257,766,691...257,949,183
Ensembl chr 1:257,766,691...257,949,183
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:adipose tissue RGD PMID:21828285 RGD:10043099 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:decreased expression:liver: RGD PMID:19500727 RGD:10045876 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890 PMID:25550330, PMID:9363890 RGD:10403047 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Mapt microtubule-associated protein tau ISO protein:hyperphosphorylation:brain: RGD PMID:16171847 RGD:10412708 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:23766372 RGD:10412052 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mt1 metallothionein 1 ISO RGD PMID:18410310 RGD:10412323 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO RGD PMID:19443193 RGD:10412691 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nudt1 nudix hydrolase 1 ISO mRNA, protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr12:16,391,578...16,398,771
Ensembl chr12:16,391,578...16,395,029
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:15164064 RGD:8694320 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Tp53 tumor protein p53 ISO mRNA:decreased expression:liver: RGD PMID:19500727 RGD:10045876 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wrn WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21267443 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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 ClinVar Annotator: match by OMIM:602588
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Branchiootic syndrome
ClinVar
CTD
PMID:9359046 PMID:9361030 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 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Six1 SIX homeobox 1 ISS
ISO
OMIM:120502 | OMIM:602588 | OMIM:608389
ClinVar Annotator: match by term: Branchiootic syndrome
MouseDO
ClinVar
PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 PMID:24033266 PMID:25741868 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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
OMIM
PMID:10991693 PMID:24033266 PMID:25741868 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
Branchiootic Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3
ClinVar Annotator: match by OMIM:608389
OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16971658 PMID:17637804 PMID:19497856 PMID:21280147 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
branchiootorenal 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 ClinVar Annotator: match by term: Melnick-Fraser syndrome
ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders
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
PMID:10655545 PMID:11734542 PMID:12834866 PMID:15802522 PMID:16797546 PMID:18678597 PMID:19951260 PMID:22340499 PMID:23435380 PMID:24033266 PMID:24489909, PMID:9361030, PMID:16491411, PMID:17637804 RGD:1598917, RGD:8554897, RGD:8554880 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G 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 OMIM:113650
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
PMID:15141091, PMID:21280147, PMID:18330911, PMID:17637804, PMID:19389353 RGD:8554876, RGD:11064057, RGD:8554882, RGD:8554880, RGD:8554879 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Six5 SIX homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,000,106...80,005,303
Ensembl chr 1:80,000,165...80,003,232
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
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
ClinVar Annotator: match by term: Branchiootorenal Syndrome 1
ClinVar Annotator: match by term: Branchiootorenal syndrome 1
ClinVar
OMIM
PMID:2773990 PMID:5365063 PMID:9020840 PMID:9361030 PMID:9603436 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11683347 PMID:11734542 PMID:15146463 PMID:15802522 PMID:16691597 PMID:16797546 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19206155 PMID:19951260 PMID:20848651 PMID:21280147 PMID:22340499 PMID:22382802 PMID:22447252 PMID:23435380 PMID:23840632 PMID:23967202 PMID:24033266 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26969326 PMID:27657687 PMID:28492532 PMID:28832562 PMID:29500469 PMID:30937553 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G 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 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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 ClinVar
OMIM
PMID:17357085 PMID:21280147 PMID:25741868 PMID:27657687 NCBI chr 1:80,000,106...80,005,303
Ensembl chr 1:80,000,165...80,003,232
JBrowse link
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 ClinVar PMID:24728327 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1
DNA:nonsense mutation
DNA:point mutation: :c.3862C>T (human)
ClinVar Annotator: match by OMIM:214150
OMIM
ClinVar
CTD
PMID:7063265 PMID:9443879 PMID:10739753 PMID:10767341 PMID:18414213 PMID:18628313 PMID:19894250 PMID:20456449 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:25136123 PMID:25741868 PMID:25820262 PMID:27004399 PMID:28492532 PMID:29572252, PMID:10739753, PMID:20456449 RGD:10401101, RGD:10401092 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19934020 PMID:20944642 PMID:22826098 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:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 ClinVar
OMIM
PMID:8818951 PMID:11443545 PMID:17466625 PMID:24700531 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
Cockayne syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar PMID:17273966 PMID:23623389 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G 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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by OMIM:133540
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
ClinVar Annotator: match by term: Cockayne syndrome, type B
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
DNA:insertion: :c.1034_1035insT (human)
ClinVar
CTD
PMID:9443879 PMID:10739753 PMID:10767341 PMID:18414213 PMID:22466610 PMID:22466612 PMID:25440059 PMID:25741868 PMID:26972010 PMID:28492532, PMID:25463447, PMID:23599700, PMID:18446857 RGD:11567232, RGD:10401100, RGD:10401095 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Y322X (human)
ClinVar
CTD
PMID:22466610 PMID:22466612, PMID:22824526, PMID:19894250, PMID:21108394 RGD:7246919, RGD:11064547, RGD:10401108 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
Cockayne Syndrome A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome type A
ClinVar
OMIM
PMID:7664335 PMID:9338586 PMID:14661080 PMID:15744458 PMID:16865293 PMID:18414213 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21108394 PMID:21681106 PMID:21924235 PMID:22099533 PMID:22829088 PMID:25525159 PMID:25741868 PMID:26173784 PMID:26616585 PMID:27004399 PMID:27597947 PMID:28492532 PMID:29057985 PMID:29422660 PMID:29572252 PMID:31319225, PMID:16865293 RGD:10401106 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome type A ClinVar PMID:14661080 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21681106 PMID:21924235 PMID:22099533 PMID:27597947 PMID:28492532 PMID:29572252 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
Cockayne Syndrome B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cockayne syndrome, type B
ClinVar Annotator: match by term: Cockayne syndrome B
ClinVar Annotator: match by term: Cockayne Syndrome, Type II
ClinVar
OMIM
PMID:7063265 PMID:7264357 PMID:9443879 PMID:9777763 PMID:10196384 PMID:10767341 PMID:15486090 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:24154677 PMID:25136123 PMID:25251875 PMID:25326635 PMID:25741868 PMID:25820262 PMID:26206375 PMID:27004399 PMID:27356891 PMID:28170084 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:32860008 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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 ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar
PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26648449 PMID:28492532 PMID:30827058 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
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: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME OMIM
ClinVar
PMID:32917887 NCBI chr 3:61,756,109...61,818,999
Ensembl chr 3:61,756,148...61,818,998
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
OMIM
ClinVar
PMID:12605447 PMID:16007586 PMID:19938095 PMID:21855841 PMID:25741868 PMID:25898808 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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 ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
ClinVar Annotator: match by OMIM:614008
OMIM
ClinVar
PMID:21549337 PMID:23720404 PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
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 ClinVar Annotator: match by term: Otofaciocervical syndrome 1
ClinVar Annotator: match by OMIM:166780
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 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Pax1 paired box 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,577,124...141,589,849
Ensembl chr 3:141,577,504...141,589,849
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
ClinVar Annotator: match by OMIM:615560
OMIM
ClinVar
PMID:23851939 PMID:25741868 PMID:28657137 PMID:29681087 NCBI chr 3:141,577,124...141,589,849
Ensembl chr 3:141,577,504...141,589,849
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 OMIM
ClinVar
PMID:9056558 PMID:23720404 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr17:26,785,017...26,795,723
Ensembl chr17:26,785,029...26,797,161
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: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 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:20805469, PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
CTD Direct Evidence: marker/mechanism
DNA:silent mutation:cds:c.1824C>T (human)
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical
ClinVar Annotator: match by OMIM:176670
DNA:missense mutations, silent mutation:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Hutchinson Gilford progeria syndrome
OMIM
ClinVar
CTD
PMID:1849984 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11792809 PMID:11799477 PMID:11901143 PMID:12075506 PMID:12467734 PMID:12629077 PMID:12702809 PMID:12714972 PMID:12768443 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15032975 PMID:15121795 PMID:15140538 PMID:15184648 PMID:15205219 PMID:15317753 PMID:15342704 PMID:15475483 PMID:15726408 PMID:15793835 PMID:15982412 PMID:15998779 PMID:16126733 PMID:16174718 PMID:16440304 PMID:16738054 PMID:17076270 PMID:17274801 PMID:17347251 PMID:17377071 PMID:17459035 PMID:17469202 PMID:17536044 PMID:17711925 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:18796515 PMID:19084400 PMID:19172989 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19842191 PMID:20301609 PMID:20376791 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21173262 PMID:21465660 PMID:21520333 PMID:21875900 PMID:22065502 PMID:22148005 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:23328570 PMID:23349452 PMID:23427149 PMID:23497705 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:25567453 PMID:25637381 PMID:25649378 PMID:25741868 PMID:25946677 PMID:25982065 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27199538 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:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30165862, PMID:12702809, PMID:12768443, PMID:15608054, PMID:15286156, PMID:19875478, PMID:12748643 RGD:12791022, RGD:10003159, RGD:10003158, RGD:10003156, RGD:10003154, RGD:737720 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
G Sirt6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr12:17,488,482...17,533,334
Ensembl chr12:17,488,487...17,522,534
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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: Progeria syndrome, childhood-onset
ClinVar Annotator: match by term: Hutchinson-gilford progeria syndrome, childhood-onset
ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12927431 PMID:14615128 PMID:16174718 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Progeroid Syndrome, Congenital, 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: Progeroid syndrome, congenital, petty type ClinVar
OMIM
PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 PMID:29100093 PMID:29100094 NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
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 ClinVar Annotator: match by term: RUIJS-AALFS SYNDROME
ClinVar Annotator: match by OMIM:616200
ClinVar
OMIM
PMID:12503110 PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
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 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Purg purine-rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chr16:62,427,933...62,483,295
Ensembl chr16:62,481,685...62,483,137
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Werner syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:277700
ClinVar
CTD
OMIM
PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 PMID:9225981 PMID:9241267 PMID:9450180 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:16673358 PMID:16786514 PMID:17478382 PMID:18414213 PMID:18810497 PMID:19824023 PMID:20157511 PMID:20301687 PMID:20443122 PMID:20657174 PMID:20802463 PMID:20855428 PMID:21267443 PMID:21389352 PMID:22188495 PMID:22766507 PMID:23045531 PMID:23849162 PMID:23936869 PMID:24033266 PMID:24429382 PMID:24463507 PMID:24728327 PMID:25018888 PMID:25182132 PMID:25390333 PMID:25637295 PMID:25741868 PMID:25927356 PMID:26296701 PMID:26344056 PMID:26546047 PMID:26695548 PMID:27084275 PMID:27153395 PMID:27559010 PMID:27667302 PMID:28202063 PMID:28492532 PMID:28795391, PMID:16673358 RGD:1580825 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
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 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link
Xeroderma Pigmentosum G / Cockayne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex
ClinVar PMID:2478446 PMID:8317483 PMID:11228268 PMID:25741868 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar Annotator: match by OMIM:610965
OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:17183314 PMID:20221251 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 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Diseases of the Aged 1246
      Premature Aging 67
        Cockayne syndrome + 12
        Lessel-Kubisch Syndrome 1
        Premature Aging, Okamoto Type 0
        Werner syndrome + 4
        Wolfram syndrome 2 2
        branchiootorenal syndrome + 5
        progeria + 18
Path 2
Term Annotations click to browse term
  disease 16091
    Pathological Conditions, Signs and Symptoms 8761
      Signs and Symptoms 5205
        Premature Aging 67
          Cockayne syndrome + 12
          Lessel-Kubisch Syndrome 1
          Premature Aging, Okamoto Type 0
          Werner syndrome + 4
          Wolfram syndrome 2 2
          branchiootorenal syndrome + 5
          progeria + 18
paths to the root