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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:Genetic Skin Diseases
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Accession:DOID:9007168 term browser browse the term
Definition:Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Synonyms:exact_synonym: Genetic Skin Disease
 primary_id: MESH:D012873
 alt_id: RDO:0001013
For additional species annotation, visit the Alliance of Genome Resources.



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Genetic Skin Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt13 keratin 13 susceptibility ISO DNA:missense mutation: ; white sponge nevus, OMIM:193900 RGD PMID:7493031 RGD:1304472 NCBI chr10:85,052,122...85,056,032
Ensembl chr10:85,051,889...85,056,084
JBrowse link
G Krt4 keratin 4 susceptibility ISO DNA:deletion: ; white sponge nevus, OMIM:193900 RGD PMID:7493030 RGD:1600193 NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
acute intermittent porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:28492532 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Hmbs hydroxymethylbilane synthase severity
treatment
susceptibility
ISO ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type
DNA:mutations:multiple
DNA:mutations:multiple
DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)
DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)
DNA:missense mutation:exon 10: p.R173W (173C>T) (human)
human mRNA in a mouse model
DNA:deletion:exon 12:669-698del (p.E223_L232del) (human)
DNA:SNPs, deletion, haplotype:multiple
DNA:missense mutation:cds: p.V215M (human)
human gene in a mouse model
DNA:SNPs, haplotype:multiple
DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)
DNA:transversion:intron:IVS11-3C>G (human)
DNA:missense mutation:cd: p.A330P (human)
CTD Direct Evidence: marker/mechanism
DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
ClinVar
CTD
OMIM
RGD
PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 More... RGD:4145271, RGD:19165346, RGD:21079461, RGD:19165358, RGD:21079460, RGD:21079459, RGD:21079458, RGD:21079457, RGD:21079456, RGD:21079455, RGD:21079454, RGD:21079453, RGD:19165351, RGD:21079452, RGD:19165352, RGD:19165353, RGD:21079451, RGD:21079450, RGD:21079449, RGD:4144787 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant ClinVar PMID:2511016 PMID:2563167 PMID:2915972 PMID:7962538 PMID:9199558 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:26299364 PMID:29924900 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:21820096 PMID:24033266 PMID:25558065 NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:23522784 PMID:25558065 PMID:25741868 NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:25741868 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar
PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 More... NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:25741868 PMID:26457590 PMID:29924900 NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 OMIM
ClinVar
PMID:8849019 PMID:12955720 PMID:17159513 PMID:20301788 PMID:21820096 More... NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 ClinVar PMID:18593716 PMID:20951801 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3 OMIM
ClinVar
PMID:22883147 PMID:28492532 PMID:29924900 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23522784 PMID:23860037 PMID:25558065 More... NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:25132448 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 OMIM
ClinVar
PMID:1621771 PMID:9536098 PMID:15959515 PMID:16025100 PMID:16199547 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:25132448 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
JBrowse link
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 6 OMIM
ClinVar
PMID:616589 PMID:25741868 PMID:26299364 PMID:29924900 PMID:32860008 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
adermatoglyphia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Adermatoglyphia OMIM
ClinVar
PMID:10631162 PMID:20619487 PMID:21820097 PMID:24909267 PMID:25741868 More... NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
ALAD-Deficiency Porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic OMIM
ClinVar
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 More... NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:
OMIM
ClinVar
RGD
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Tyr tyrosinase treatment ISO
IMP
DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism
ClinVar
RGD
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 More... RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome OMIM
ClinVar
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:28492532 PMID:32815859 NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
CTD
ClinVar
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25914204 PMID:28332779 PMID:28492532 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 OMIM
ClinVar
PMID:11727201 PMID:12673792 PMID:16199547 PMID:17468754 PMID:19610081 More... NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1632451 PMID:1953577 PMID:2491181 PMID:2557216 PMID:2677459 More... RGD:12879399, RGD:10053611 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
JBrowse link
G Colca2 colorectal cancer associated 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,209,123...11,238,680
Ensembl chr 8:11,211,110...11,238,892
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Jrkl JRK-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
JBrowse link
G LOC100125362 hypothetical protein LOC100125362 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
JBrowse link
G LOC689959 hypothetical protein LOC689959 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency ClinVar PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G RGD1562914 RGD1562914 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
JBrowse link
G RGD1564937 similar to RIKEN cDNA 1110032A03 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 PMID:25741868 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
atopic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl9 actin-like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISS OMIM:603165 MouseDO NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:plasma RGD PMID:19116453 RGD:11040546 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
JBrowse link
G Bdnf brain-derived neurotrophic factor susceptibility
no_association
ISO DNA:polymorphism::C270T(human)
protein:increased expression:serum:
DNA:polymorphism:cds:p.V66M(human)
mRNA:decreased expression:mast cell
RGD PMID:19522715 PMID:17073871 PMID:19038326 PMID:17845420 RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:3923750 RGD:7401273 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 PMID:28628108 NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
G Casp8 caspase 8 ISS OMIM:603165 MouseDO NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ccdc80 coiled-coil domain containing 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr11:55,685,165...55,718,827
Ensembl chr11:55,685,872...55,719,137
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 severity
treatment
ISO protein:increased expression:plasma RGD PMID:11133838 PMID:19162238 RGD:7483580, RGD:7483583 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 PMID:22125604 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:14616792 RGD:11087554 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO RGD PMID:12642842 RGD:1626250 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Ccl28 C-C motif chemokine ligand 28 severity ISO associated with Asthma; protein: increased secretion:serum (human) RGD PMID:20161852 RGD:4892193 NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18249437 PMID:16449815 RGD:6893391 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:16449815 RGD:6893391 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdsn corneodesmosin ISO protein:decreased expression:skin of body (human) RGD PMID:21211653 RGD:42721970 NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
JBrowse link
G Cldn1 claudin 1 ISO mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) RGD PMID:21163515 RGD:11344875 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Cldn23 claudin 23 ISO mRNA:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr16:56,413,677...56,415,401
Ensembl chr16:56,413,381...56,415,523
JBrowse link
G Cma1 chymase 1 ISO DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:16134991 RGD:1625394 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human)
mRNA:increased expression:blood:
RGD PMID:16445777 PMID:22357516 RGD:7411698, RGD:7411700 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctse cathepsin E ISS OMIM:603165 MouseDO NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15131578 RGD:9491761 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:decreased expression:blood, leukocyte RGD PMID:24821910 PMID:15131578 RGD:9491393, RGD:9491761 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Atopic eczema ClinVar PMID:25741868 NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds: RGD PMID:22476911 RGD:40903056 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fcgr2a Fc gamma receptor 2A severity ISO protein:increased expression:eosinophil RGD PMID:7564170 PMID:19414806 RGD:5147985, RGD:5508430 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atopic eczema
CTD
ClinVar
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 More... NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21176116 PMID:20674822 RGD:5490539, RGD:5490981 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:19842992 PMID:20674822 RGD:5490540, RGD:5490981 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : RGD PMID:19842992 RGD:5490540 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:22101570 RGD:8157618 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ifnl3 interferon, lambda 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22295096 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18249437 PMID:23843958 RGD:7364805 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 severity
treatment
ISO DNA:SNPs: :rs3091307, rs20541 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:4257G>A (human)
DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)
CTD
RGD
PMID:18249437 PMID:22355542 PMID:21913997 PMID:16672002 PMID:17313488 More... RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:115,348,860...115,408,682
Ensembl chr  X:115,348,860...115,408,681
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:21462799 PMID:20971924 RGD:8549521, RGD:8549556 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Il17a interleukin 17A treatment
severity
ISO protein:increased expression:dermis, lymphocyte (human)
protein:increased expression:epidermis (mouse)
RGD PMID:24337738 PMID:18432274 PMID:22848348 RGD:8698670, RGD:9068436, RGD:9068417 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 severity
no_association
ISO
ISS
protein:increased expression:serum
OMIM:603165
DNA:SNP:promoter:-140C>G (rs360721) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)
MouseDO
RGD
PMID:15317323 PMID:22840759 PMID:22840759 PMID:11490156 PMID:17517100 RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il2 interleukin 2 susceptibility ISO associated with food hypersensitivity;
protein:increased expression:CD8+ T cell:
DNA:SNP:promoter:rs2069762(human)
RGD PMID:7547077 PMID:1673687 PMID:16672002 PMID:16333313 PMID:21982597 RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21r interleukin 21 receptor ISO protein:increased expression:skin RGD PMID:19075398 PMID:19075398 RGD:6892938, RGD:6892938 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Il31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:33,095,108...33,105,026
Ensembl chr12:33,092,097...33,105,037
JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP:promoter:-590C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 RGD:7829786 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9392697 RGD:11530001 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Il5 interleukin 5 ISO mRNA: increased expression: skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11886533 PMID:18249437 PMID:22299064 RGD:5687175 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Atopic eczema ClinVar NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24046278 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:promoter, exon: RGD PMID:20642202 RGD:8693720 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mc1r melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Ms4a2 membrane spanning 4-domains A2 susceptibility ISO Atopy and bronchial hyperresponsiveness, OMIM:147050
Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G
RGD PMID:8817330 PMID:8817330 RGD:1599903, RGD:1599903 NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility
no_association
ISO DNA:polymorphisms: :481C>T, 590G>A(human)
DNA:polymorphisms: :481C>T,590G>A,857G>A(human)
RGD PMID:16224574 PMID:14528063 RGD:8552664, RGD:8552668 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nfkbia NFKB inhibitor alpha ISS OMIM:603165 MouseDO NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS OMIM:603165 MouseDO NCBI chr11:44,782,676...44,810,723
Ensembl chr11:44,782,676...44,810,723
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum: RGD PMID:17073871 RGD:8657069 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:nerve fibers of the papillary dermis (human) RGD PMID:16586073 RGD:5508452 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:18647313 PMID:17223862 RGD:5144116, RGD:5684771 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO potential therapeutic target with or without glucocorticoid therapy (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18249437 PMID:21633371 RGD:5509940 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA:increased expression:zone of skin (human) RGD PMID:32496587 RGD:150383342 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO
ISS
OMIM:603165 MouseDO
RGD
PMID:10940923 RGD:7777149 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18336422 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12410700 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Selp selectin P ISO atopy and bronchial hyperresponsiveness, OMIM:147050 RGD PMID:12929084 RGD:1599904 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISS OMIM:603165 MouseDO NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO GAD
RGD
PMID:15118671 PMID:11496247 RGD:1331525, RGD:7394812 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO DNA:polymorphism: :-16934A>T(human)
DNA:polymorphism:cds:p.R753Q(human)
RGD PMID:19627277 PMID:22032785 PMID:17531301 RGD:8552997, RGD:8553048, RGD:8552999 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO DNA:polymorphism: :896G>A(human)
mRNA:increased expression:blood cell:
RGD PMID:23821954 PMID:19764566 RGD:7794689, RGD:7794745 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tmem79 transmembrane protein 79 ISS OMIM:603165 MouseDO NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:haplotype:promoter:−308G>A,-238G>A(human) RGD PMID:22533231 RGD:7401246 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO mRNA:altered expression:fibroblast RGD PMID:16650051 RGD:7777183 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:603165 MouseDO NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISS OMIM:603165 MouseDO NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
G Tslp thymic stromal lymphopoietin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 RGD:38549374 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
G Vdr vitamin D receptor severity
no_association
ISO DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)
DNA:SNP: :rs2228570 (human)
RGD PMID:23034014 PMID:23034014 RGD:8157625, RGD:8157625 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
JBrowse link
G Wasl WASP like actin nucleation promoting factor ISS OMIM:603165 MouseDO NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
JBrowse link
atopic dermatitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg filaggrin susceptibility ISO ClinVar Annotator: match by term: Atopic dermatitis 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 More... NCBI chr 2:178,888,688...178,912,731 JBrowse link
atopic dermatitis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Socs3 suppressor of cytokine signaling 3 susceptibility ISO OMIM NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis OMIM
ClinVar
PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
JBrowse link
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281 NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
JBrowse link
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25217959 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated OMIM
ClinVar
PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar
PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 More... NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
autosomal dominant cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant
CTD
ClinVar
PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 More... NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
autosomal dominant cutis laxa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 OMIM
ClinVar
PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 More... NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar PMID:12618961 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
autosomal dominant cutis laxa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 OMIM
ClinVar
PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
autosomal dominant cutis laxa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 OMIM
ClinVar
PMID:8779323 PMID:9536098 PMID:9643297 PMID:17576681 PMID:21739576 More... NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,799,061...112,801,021
Ensembl chr 2:112,799,011...112,801,075
JBrowse link
G Gpr160 G protein-coupled receptor 160 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:112,484,935...112,563,148
JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264 PMID:21931702 PMID:25741868 NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581
JBrowse link
G Lrrc31 leucine rich repeat containing 31 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:112,700,136...112,724,322
JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
JBrowse link
G Lrriq4 leucine-rich repeats and IQ motif containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:27192671 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
JBrowse link
G Phc3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540
JBrowse link
G Prkci protein kinase C, iota ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:28492532 PMID:29344583 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,624,942...112,639,549
Ensembl chr 2:112,624,942...112,639,549
JBrowse link
G Sec62 SEC62 homolog, preprotein translocation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,570,810...112,607,576
Ensembl chr 2:112,570,819...112,601,814
JBrowse link
G Skil SKI-like proto-oncogene ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 OMIM
ClinVar
PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 More... NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:12167716 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:18252230 PMID:18669893 PMID:19090550 PMID:21199492 PMID:21536674 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 OMIM
ClinVar
PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 PMID:17392301 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 OMIM
ClinVar
PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:20979174 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 4 ClinVar PMID:23329068 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 More... NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
JBrowse link
G Agrp agouti related neuropeptide ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,447,992...33,523,068
Ensembl chr19:33,447,992...33,449,584
JBrowse link
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,744,666...37,831,131
Ensembl chr19:37,744,633...37,829,167
JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit D1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
JBrowse link
G Atxn1l ataxin 1-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,700,341...37,711,524
Ensembl chr19:37,700,106...37,711,538
JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
JBrowse link
G Calb2 calbindin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
JBrowse link
G Car7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467
JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdh16 cadherin 16 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
JBrowse link
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
JBrowse link
G Ces2h carboxylesterase 2H ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
JBrowse link
G Ces3a carboxylesterase 3a ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:32,992,386...33,000,562 JBrowse link
G Ces4a carboxylesterase 4A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
JBrowse link
G Chst4 carbohydrate sulfotransferase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,993,471...38,002,123
Ensembl chr19:37,991,417...38,003,608
JBrowse link
G Chtf8 chromosome transmission fidelity factor 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578
JBrowse link
G Ciao2b cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
JBrowse link
G Cklf chemokine-like factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
JBrowse link
G Clec18a C-type lectin domain family 18, member A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017
JBrowse link
G Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
JBrowse link
G Cmtm2a CKLF-like MARVEL transmembrane domain containing 2A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:671,719...678,839
Ensembl chr19:671,719...678,837
JBrowse link
G Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
JBrowse link
G Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
JBrowse link
G Cmtr2 cap methyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626
JBrowse link
G Cyb5b cytochrome b5 type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249
JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
JBrowse link
G Ddx28 DEAD-box helicase 28 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,512,891...37,530,140
Ensembl chr19:37,512,891...37,530,140
JBrowse link
G Dpep2 dipeptidase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954
JBrowse link
G Dpep3 dipeptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896
JBrowse link
G Dus2 dihydrouridine synthase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709
JBrowse link
G Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
JBrowse link
G E2f4 E2F transcription factor 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
JBrowse link
G Edc4 enhancer of mRNA decapping 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758
JBrowse link
G Elmo3 engulfment and cell motility 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410
JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
JBrowse link
G Exoc3l1 exocyst complex component 3-like 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486
JBrowse link
G Exosc6 exosome component 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:39,021,308...39,023,535
Ensembl chr19:39,022,183...39,023,515
JBrowse link
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,142,653...33,147,268
Ensembl chr19:33,142,715...33,147,262
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
JBrowse link
G Fhod1 formin homology 2 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356
JBrowse link
G Gfod2 glucose-fructose oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
JBrowse link
G Has3 hyaluronan synthase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
JBrowse link
G Hp haptoglobin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
JBrowse link
G Ist1 IST1 factor associated with ESCRT-III ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,648,840...37,671,019
Ensembl chr19:37,648,095...37,670,956
JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
JBrowse link
G Lrrc29 leucine rich repeat containing 29 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545
JBrowse link
G Lrrc36 leucine rich repeat containing 36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141
JBrowse link
G Marveld3 MARVEL domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,908,727...37,923,420
Ensembl chr19:37,905,638...37,923,420
JBrowse link
G MGC116202 LOC688736 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445
JBrowse link
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
JBrowse link
G Mir328 microRNA 328 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849
JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
JBrowse link
G Nfat5 nuclear factor of activated T-cells 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675
JBrowse link
G Nfatc3 nuclear factor of activated T-cells 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150
JBrowse link
G Nip7 nucleolar pre-rRNA processing protein NIP7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711
JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
JBrowse link
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nrn1l neuritin 1-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,786,419...33,787,879 JBrowse link
G Nutf2 nuclear transport factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,589,583...33,591,900
Ensembl chr19:33,589,542...33,591,900
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
JBrowse link
G Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
JBrowse link
G Phaf1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914
JBrowse link
G Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,835,125...37,901,804
Ensembl chr19:37,835,125...37,905,513
JBrowse link
G Pkd1l3 polycystin 1 like 3, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,585,564...37,650,083
Ensembl chr19:37,585,725...37,650,155
JBrowse link
G Pla2g15 phospholipase A2, group XV ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032
JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
JBrowse link
G RGD1561415 RGD1561415 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
JBrowse link
G Ripor1 RHO family interacting cell polarization regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268
JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
JBrowse link
G Slc9a5 solute carrier family 9 member A5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
JBrowse link
G Sntb2 syntrophin, beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113
JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
JBrowse link
G Tmed6 transmembrane p24 trafficking protein 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900
JBrowse link
G Tmem208 transmembrane protein 208 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183
JBrowse link
G Tppp3 tubulin polymerization-promoting protein family member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577
JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
JBrowse link
G Tsnaxip1 translin-associated factor X interacting protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824
JBrowse link
G Txnl4b thioredoxin-like 4B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,530,157...37,539,827
Ensembl chr19:37,530,152...37,538,521
JBrowse link
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,934,999...34,948,267
Ensembl chr19:34,934,961...34,948,887
JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
JBrowse link
G Zdhhc1 zinc finger, DHHC-type containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616
JBrowse link
G Zfp612 zinc finger protein 612 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,053,953...38,071,196
Ensembl chr19:38,053,967...38,067,455
JBrowse link
G Zfp821 zinc finger protein 821 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,679,937...37,698,831
Ensembl chr19:37,680,628...37,698,831
JBrowse link
G Zfp90 zinc finger protein 90 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194
JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant OMIM
ClinVar
PMID:1680286 PMID:2653224 PMID:7577595 PMID:7695699 PMID:7861014 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341 JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
JBrowse link