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
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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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Bax
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:21359432
RGD:6480478
NCBI chr 1:105,076,472...105,081,906
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 chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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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
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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 chr17:844,686...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 4:159,914,267...159,923,821
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 chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...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 1:121,549,831...121,838,548
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 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X: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 3:81,001,529...81,031,165
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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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:24728327 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 PMID:32083401 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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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:10464653 PMID:10991693 PMID:11683347 PMID:15146463 PMID:16691597 PMID:18177466 PMID:18220287 PMID:19951260 PMID:21280147 PMID:23506628 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26969326 PMID:28492532 PMID:28832562 PMID:29966037 PMID:30655312 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
ISO
ClinVar Annotator: match by term: Branchiootic syndrome
ClinVar
PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 PMID:21280147 PMID:25326635 PMID:25741868 PMID:25788563 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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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 PMID:10991693 PMID:11683347 PMID:11734542 PMID:12701758 PMID:15146463 PMID:15493068 PMID:15802522 PMID:16199547 PMID:16691597 PMID:16797546 PMID:17576681 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19951260 PMID:21280147 PMID:22340499 PMID:22447252 PMID:23435380 PMID:23506628 PMID:23552953 PMID:23840632 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26667035 PMID:26969326 PMID:27657687 PMID:28492532 PMID:28832562 PMID:29966037 PMID:30311386 PMID:30655312 PMID:31049720 PMID:33240318 PMID:35698919 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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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
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Six1
SIX homeobox 1
ISO
ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: Branchiootic syndrome 3 | ClinVar Annotator: match by term: SIX1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 PMID:17637804 PMID:18330911 PMID:18666230 PMID:19497856 PMID:21254961 PMID:21280147 PMID:21700001 PMID:23435380 PMID:24033266 PMID:24164807 PMID:25326635 PMID:25414181 PMID:25741868 PMID:25788563 PMID:26467025 PMID:28492532 PMID:30311386 PMID:31980437 PMID:35802133 PMID:36633841 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:18666230 PMID:25414181 PMID:28492532
NCBI chr 6:91,802,328...91,816,002
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:18666230 PMID:25414181 PMID:28492532
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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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
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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
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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)
ClinVar MouseDO CTD RGD
PMID:2773990 PMID:8566479 PMID:9020840 PMID:9361030 PMID:9536098 PMID:9603436 PMID:10429368 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11683347 PMID:11734542 PMID:12404110 PMID:12834866 PMID:15146463 PMID:15802522 PMID:16199547 PMID:16441263 PMID:16491411 PMID:16691597 PMID:16797546 PMID:17364338 PMID:17576681 PMID:17637804 PMID:18065799 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19206155 PMID:19951260 PMID:20848651 PMID:21280147 PMID:22340499 PMID:22382802 PMID:22447252 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:26667035 PMID:26969326 PMID:27657687 PMID:28289595 PMID:28492532 PMID:28832562 PMID:29500469 PMID:29966037 PMID:30268946 PMID:30311386 PMID:30655312 PMID:30937553 PMID:31427586 PMID:33240318 PMID:34031707 PMID:34160378 PMID:35046468 PMID:35982127 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 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 PMID:18330911 PMID:17637804 PMID:19389353 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
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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...221,838,291
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:8566479 PMID:9020840 PMID:9361030 PMID:9536098 PMID:9603436 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11683347 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:23506628 PMID:23967202 PMID:24033266 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27657687 PMID:28492532 PMID:28832562 PMID:29500469 PMID:30655312 PMID:30937553 PMID:31049720 PMID:33532864 PMID:35982127 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: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1
ClinVar
PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 PMID:21280147 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25788563 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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Six5
SIX homeobox 5
ISO
ClinVar Annotator: match by term: Branchiootorenal syndrome 2 | ClinVar Annotator: match by term: SIX5-related condition
OMIM ClinVar
PMID:17357085 PMID:21280147 PMID:24429398 PMID:25741868 PMID:26467025 PMID:27657687 PMID:28492532 More...
NCBI chr 1:78,740,812...78,745,890
Ensembl chr 1:78,741,367...78,745,890
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Slc25a24
solute carrier family 25 member 24
ISO
ClinVar Annotator: match by term: Fontaine progeroid syndrome | ClinVar Annotator: match by term: SLC25A24-related condition
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
susceptibility
ISO
ClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 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
susceptibility
ISO
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 PMID:25559809 PMID:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26580448 PMID:26648449 PMID:28125075 PMID:28492532 PMID:29056344 PMID:29120461 PMID:30093976 PMID:30680046 PMID:30827058 PMID:31780696 PMID:32424176 PMID:32792570 PMID:32885271 PMID:33193653 PMID:33332384 PMID:33436027 PMID:35264596 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: Mandibuloacral dysplasia progeroid syndrome | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia
OMIM ClinVar
PMID:25741868 PMID:32917887
NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201
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Banf1
barrier to autointegration nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
OMIM ClinVar
PMID:21549337 PMID:23720404 PMID:25741868 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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9361030 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11683347 PMID:11734542 PMID:12701758 PMID:15146463 PMID:15802522 PMID:16199547 PMID:16441263 PMID:16797546 PMID:18220287 PMID:18678597 PMID:19951260 PMID:21280147 PMID:22340499 PMID:22447252 PMID:23435380 PMID:23506628 PMID:23552953 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25741868 PMID:26310487 PMID:26467025 PMID:26489027 PMID:26667035 PMID:28492532 PMID:28832562 PMID:29966037 PMID:30311386 PMID:30655312 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 3:134,792,330...134,801,637
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 | ClinVar Annotator: match by term: PAX1-related condition
OMIM ClinVar
PMID:1889089 PMID:23851939 PMID:25741868 PMID:28492532 PMID:28657137 PMID:29681087 PMID:32111619 More...
NCBI chr 3:134,792,330...134,801,637
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: Premature aging syndrome, Penttinen type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23720404 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:30573803 PMID:31017643 PMID:31064749 PMID:34494111 PMID:39580648 More...
NCBI chr18:54,499,962...54,538,840
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 PMID:31692161 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 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 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:262236 PMID:1849984 PMID:2007407 PMID:2733290 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:11901143 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:15032975 PMID:15060110 PMID:15121795 PMID:15140538 PMID:15184648 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15726408 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15965218 PMID:15982412 PMID:15998779 PMID:16061563 PMID:16126733 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16965317 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19172989 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20580717 PMID:20625965 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21173262 PMID:21251803 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21738662 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22065502 PMID:22068161 PMID:22148005 PMID:22177269 PMID:22186027 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22419169 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23141186 PMID:23183350 PMID:23217256 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23659872 PMID:23666920 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23969228 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24305605 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24639906 PMID:24642510 PMID:24687084 PMID:24721642 PMID:24846508 PMID:24915601 PMID:24943589 PMID:25025039 PMID:25214167 PMID:25286833 PMID:25326635 PMID:25351510 PMID:25524705 PMID:25525159 PMID:25556323 PMID:25567453 PMID:25617006 PMID:25637381 PMID:25649378 PMID:25741868 PMID:25873806 PMID:25885670 PMID:25946677 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26165385 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26670336 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27199538 PMID:27332903 PMID:27334370 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:27920058 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28229933 PMID:28255936 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28878338 PMID:28878402 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29703891 PMID:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30595509 PMID:30739589 PMID:30847666 PMID:30871747 PMID:30911407 PMID:31006814 PMID:31019283 PMID:31038196 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31498906 PMID:31514951 PMID:31521807 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32297714 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32461654 PMID:32571898 PMID:32616434 PMID:32666643 PMID:32685188 PMID:32727917 PMID:32792077 PMID:32818388 PMID:32880476 PMID:32943904 PMID:33304817 PMID:33407844 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33887581 PMID:33893211 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35533453 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36971006 PMID:37246508 PMID:37679847 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 chr19:52,857,612...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 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
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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:26724531 PMID:28492532 PMID:31293201 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 | ClinVar Annotator: match by term: SPRTN-related condition
OMIM ClinVar
PMID:12503110 PMID:25261934 PMID:25741868 PMID:28492532
NCBI chr19:52,857,612...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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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
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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 ISS
ClinVar Annotator: match by term: Werner syndrome OMIM:277700 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 PMID:9225981 PMID:9241267 PMID:9450180 PMID:9536098 PMID:10069711 PMID:10189141 PMID:10220139 PMID:10347997 PMID:10543396 PMID:10628995 PMID:10811130 PMID:12244128 PMID:12827497 PMID:15355988 PMID:15489508 PMID:15609317 PMID:15888165 PMID:16199547 PMID:16673358 PMID:16786514 PMID:17478382 PMID:17576681 PMID:18205852 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:23583337 PMID:23849162 PMID:23936869 PMID:24033266 PMID:24429382 PMID:24728327 PMID:25018888 PMID:25059010 PMID:25182132 PMID:25390333 PMID:25619955 PMID:25637295 PMID:25741868 PMID:26296701 PMID:26344056 PMID:26546047 PMID:26689913 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:30891318 PMID:32041611 PMID:32191290 PMID:32359129 PMID:34646395 PMID:36292687 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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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
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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: POLR3A-related disorders | 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:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22855961 PMID:23355746 PMID:23965854 PMID:25339210 PMID:25741868 PMID:25898808 PMID:27029625 PMID:27612211 PMID:28407788 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31855841 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33491183 PMID:33972714 PMID:36344503 PMID:36825045 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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Cisd2
CDGSH iron sulfur domain 2
ISO
ClinVar Annotator: match by term: CISD2-related condition | 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 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 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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Cisd3
CDGSH iron sulfur domain 3
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
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Pcgf2
polycomb group ring finger 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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Slc9b1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: CISD2-related condition | 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
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