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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:photosensitivity disease
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Accession:DOID:3159 term browser browse the term
Definition:Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Synonyms:exact_synonym: Actinic Dermatitides;   Actinic Dermatitis;   Actinic Reticuloid Syndrome;   Actinic Reticuloid Syndromes;   Chronic Actinic Dermatitides;   Chronic Actinic Dermatitis;   Photodermatitides;   Photodermatitis;   Photosensitivity Disorder;   Photosensitivity Disorders;   Photosensitization
 primary_id: MESH:D010787;   RDO:0001713
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
photosensitivity disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:16516380 RGD:9586343 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:18753059 RGD:9585765 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
Actinic Prurigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:Polymorphism: :HLA-DRB1*14(human) RGD PMID:11369906 RGD:7365088 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
De Sanctis-Cacchione 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: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7063265 PMID:9443879 PMID:10196384 PMID:10767341 PMID:11809892 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Kindler's syndrome ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 PMID:16675959 PMID:17460733 PMID:18528435 PMID:19292718 PMID:19762715 PMID:21336475 PMID:21936020 PMID:22220914 PMID:24635075 PMID:24635080 PMID:25156791 PMID:25437880 PMID:25599393 PMID:25741868 PMID:28443301 PMID:28492532 PMID:29130490 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
JBrowse link
photosensitive trichothiodystrophy 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 ISS
ISO
OMIM:601675
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
MouseDO
ClinVar
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
photosensitive trichothiodystrophy 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: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9758621 PMID:11242112 PMID:11709541 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:27085493 PMID:28492532 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
JBrowse link
photosensitive trichothiodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive
DNA:missense mutation:cds:p.T119P (human)
ClinVar
OMIM
PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28492532 PMID:29478780 PMID:30787465, PMID:9012405 RGD:13207496 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
photosensitive trichothiodystrophy 3 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: Trichothiodystrophy, complementation group A ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive
ClinVar Annotator: match by term: Trichothiodystrophy, complementation group a
OMIM
ClinVar
PMID:15220921 PMID:24986372 PMID:25741868 PMID:30359777 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
Sunburn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO mRNA:increased expression:skin: RGD PMID:8040608 RGD:9585745 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility ISO associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) RGD PMID:17346338 RGD:8547886 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO RGD PMID:18200051 RGD:6893371 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs2228570 (human) RGD PMID:19105801 RGD:8158067 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
UV-Induced Skin Damage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by synonym: Uv-induced skin damage, susceptibility to ClinVar PMID:16463023 NCBI chr19:56,215,420...56,219,987 JBrowse link
UV-sensitive 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 CTD Direct Evidence: marker/mechanism CTD PMID:26972010 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466610 PMID:22466612 NCBI chr14:82,621,028...82,658,912
Ensembl chr14:82,623,050...82,658,891
Ensembl chr14:82,623,050...82,658,891
JBrowse link
UV-Sensitive Syndrome 1 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: UV-SENSITIVE SYNDROME 1
ClinVar Annotator: match by term: UV-sensitive syndrome 1
OMIM
ClinVar
PMID:7264357 PMID:9443879 PMID:9777763 PMID:10767341 PMID:15486090 PMID:18414213 PMID:19894250 PMID:22466610 PMID:22483866 PMID:22661500 PMID:22904069 PMID:25136123 PMID:25741868 PMID:25820262 PMID:28492532 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
UV-Sensitive Syndrome 2 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 ClinVar Annotator: match by OMIM:614621 OMIM
ClinVar
PMID:19329487 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
UV-Sensitive Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uvssa UV-stimulated scaffold protein A ISO ClinVar Annotator: match by OMIM:614640
ClinVar Annotator: match by term: UV-sensitive syndrome 3
OMIM
ClinVar
PMID:3774595 PMID:3974603 PMID:7513056 PMID:10771487 PMID:19329487 PMID:22466610 PMID:22466612 PMID:25741868 NCBI chr14:82,621,028...82,658,912
Ensembl chr14:82,623,050...82,658,891
Ensembl chr14:82,623,050...82,658,891
JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:226,657,561...226,683,356
Ensembl chr 1:226,657,561...226,683,347
JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:8798680 RGD:1601050 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:11710928 PMID:12820975 PMID:18637129 PMID:22826098 PMID:23221806 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24448499 PMID:25741868 PMID:26556299 PMID:27004399 PMID:29478780, PMID:7849702 RGD:1601068 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 ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:25741868 PMID:26023681 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28492532 PMID:29478780 PMID:30787465, PMID:16947863, PMID:22824526 RGD:1598912, RGD:7246919 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:25741868, PMID:8797827, PMID:22824526 RGD:1601093, RGD:7246919 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531 PMID:29130490, PMID:22824526 RGD:7246919 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 9:17,198,957...17,208,456
Ensembl chr 9:17,198,957...17,209,220
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:80,306,074...80,315,886
Ensembl chr 1:80,306,102...80,315,533
JBrowse link
G Polh DNA polymerase eta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD
ClinVar
PMID:17344931 PMID:18368133 PMID:18703314 PMID:22745795 PMID:24033266 PMID:25741868 NCBI chr 9:17,163,354...17,198,006
Ensembl chr 9:17,163,354...17,197,132
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:25741868 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:39,271,992...39,301,506
Ensembl chr19:39,272,499...39,300,893
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 PMID:25741868 PMID:28448657 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9101292 PMID:9671271 PMID:15214909 PMID:16905156 PMID:20054342 PMID:20199544 PMID:20534089 PMID:22081045 PMID:23194742 PMID:24084170 PMID:24135642 PMID:24757057 PMID:25256075 PMID:25525159 PMID:25741868 PMID:26743599 PMID:27413738 PMID:27607234 PMID:28492532 PMID:29208038 PMID:31478152, PMID:15118671, PMID:22824526, PMID:2234061 RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10766188 PMID:11511294 PMID:15654957 PMID:16081512 PMID:17079196 PMID:17084680 PMID:18414213 PMID:19434073 PMID:19609301 PMID:20054342 PMID:21047201 PMID:21482201 PMID:22992668 PMID:23173980 PMID:23278166 PMID:23400628 PMID:24084170 PMID:24218596 PMID:25256075 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26884178 PMID:27387384 PMID:28448657 PMID:28492532 PMID:28615033 PMID:29178624 PMID:29330851 PMID:30101995 PMID:30516811, PMID:8298653, PMID:22824526 RGD:1599878, RGD:7246919 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
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
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A
ClinVar Annotator: match by term: Xeroderma pigmentosum group A
ClinVar Annotator: match by term: XP, GROUP A
ClinVar
OMIM
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9101292 PMID:9671271 PMID:9753735 PMID:10447254 PMID:10862089 PMID:12509227 PMID:15214909 PMID:15661657 PMID:16098033 PMID:16491090 PMID:16905156 PMID:18414213 PMID:20054342 PMID:20199544 PMID:20534089 PMID:20574439 PMID:22081045 PMID:22190868 PMID:23194742 PMID:24063568 PMID:24135642 PMID:24704021 PMID:24728327 PMID:24757057 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26743599 PMID:27413738 PMID:27607234 PMID:27982466 PMID:28492532 PMID:29208038 PMID:31478152 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A ClinVar PMID:26227012 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group b
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610651
OMIM
ClinVar
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 PMID:26467025 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28492532 PMID:29478780 PMID:30787465 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 PMID:25741868 PMID:28448657 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar Annotator: match by OMIM:278720
OMIM
ClinVar
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 PMID:12509233 PMID:14662655 PMID:16081512 PMID:17079196 PMID:17084680 PMID:17119055 PMID:18414213 PMID:18478970 PMID:18809580 PMID:18955168 PMID:19434073 PMID:19609301 PMID:20054342 PMID:21047201 PMID:21273643 PMID:21482201 PMID:22992668 PMID:23173980 PMID:23278166 PMID:23400628 PMID:23984341 PMID:24218596 PMID:24728327 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26278556 PMID:26884178 PMID:27153395 PMID:27387384 PMID:27607234 PMID:28448657 PMID:28492532 PMID:28669926 PMID:29178624 PMID:29330851 PMID:29973595 PMID:30101995 PMID:30256826 PMID:30306255 PMID:30516811 PMID:30675318 PMID:31319225 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
JBrowse link
xeroderma pigmentosum group D 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: Xeroderma pigmentosum, group D ClinVar 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 ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar Annotator: match by OMIM:278730
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9758621 PMID:11156600 PMID:11285194 PMID:11319176 PMID:11443545 PMID:11709541 PMID:11710928 PMID:12820975 PMID:15494306 PMID:15534626 PMID:16054878 PMID:16111488 PMID:16707649 PMID:17403617 PMID:17576681 PMID:18191955 PMID:18510924 PMID:18510925 PMID:18637129 PMID:18709642 PMID:19434073 PMID:19470925 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23221806 PMID:23232694 PMID:23276657 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26467025 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27085493 PMID:27504877 PMID:28492532 PMID:29169765 PMID:29478780 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:80,306,074...80,315,886
Ensembl chr 1:80,306,102...80,315,533
JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group E
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:278740
OMIM
ClinVar
CTD
PMID:10469312 PMID:10585395 PMID:12812979 PMID:21107348 PMID:24728327 PMID:24753253 PMID:25741868 PMID:28492532 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar Annotator: match by term: Xeroderma pigmentosum, type f/Cockayne syndrome
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F
ClinVar Annotator: match by OMIM:278760
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM
ClinVar
PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 PMID:15159313 PMID:15886521 PMID:16550608 PMID:17576681 PMID:18767034 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23407396 PMID:23623386 PMID:23623389 PMID:24004570 PMID:24033266 PMID:24412486 PMID:24465539 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:28878254 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:30658521 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
xeroderma pigmentosum group G 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
ClinVar Annotator: match by OMIM:278780
OMIM
ClinVar
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 PMID:11219864 PMID:11841555 PMID:12060391 PMID:15082767 PMID:15682379 PMID:16550608 PMID:17466625 PMID:22821389 PMID:23255472 PMID:23370536 PMID:24033266 PMID:24700531 PMID:24728327 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
ClinVar Annotator: match by term: Xeroderma pigmentosum, variant type
ClinVar Annotator: match by OMIM:278750
OMIM
ClinVar
PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:24130121 PMID:25741868 PMID:26884178 PMID:27004399 PMID:28492532 NCBI chr 9:17,163,354...17,198,006
Ensembl chr 9:17,163,354...17,197,132
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:24130121 PMID:25741868 PMID:26884178 PMID:27004399 PMID:28492532 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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: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 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 16937
    sensory system disease 5336
      skin disease 2747
        photosensitivity disease 29
          Actinic Prurigo 1
          Cutaneous Photosensitivity and Colitis, Lethal 0
          Hair Defect with Photosensitivity and Mental Retardation 0
          Hydroa Vacciniforme + 0
          Kindler syndrome 1
          Sunburn 5
          UV-Induced Skin Damage 1
          UV-sensitive syndrome + 3
          photoallergic dermatitis + 0
          photosensitive epilepsy + 0
          photosensitive trichothiodystrophy + 4
          phototoxic dermatitis 0
          xeroderma pigmentosum + 19
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            dermatitis 420
              photosensitivity disease 29
                Actinic Prurigo 1
                Cutaneous Photosensitivity and Colitis, Lethal 0
                Hair Defect with Photosensitivity and Mental Retardation 0
                Hydroa Vacciniforme + 0
                Kindler syndrome 1
                Sunburn 5
                UV-Induced Skin Damage 1
                UV-sensitive syndrome + 3
                photoallergic dermatitis + 0
                photosensitive epilepsy + 0
                photosensitive trichothiodystrophy + 4
                phototoxic dermatitis 0
                xeroderma pigmentosum + 19
paths to the root