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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


show annotations for term's descendants           Sort by:
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
ACCES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME ClinVar
OMIM		 PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 More... NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682 		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:7757070 PMID:7962538 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:28492532 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
RGD		 PMID:26299364 PMID:29924900 PMID:33899511 RGD:155663357 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
DNA:mutations:cds:		 CTD
ClinVar
RGD		 PMID:21820096 PMID:24033266 PMID:25558065 PMID:25824905 PMID:28492532 More... RGD:155791566 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:24728327 PMID:25741868 PMID:28492532 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:16199547 PMID:17159513 PMID:21820096 PMID:23522784 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:20981092 PMID:25741868 PMID:28492532 PMID:29641532 More... 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:25741868 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:16199547 PMID:17576681 PMID:23522784 PMID:23860037 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 Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... 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:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,393,771...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... 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:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		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 Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514 		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:28492532 PMID:29924900 More... 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:9536098 PMID:11462173 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 ClinVar
OMIM		 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 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29600982 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		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
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Annular Epidermolytic Ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis		 CTD
ClinVar		 PMID:22035476 PMID:25741868 PMID:28492532 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO OMIM NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 OMIM
ClinVar		 PMID:10053007 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		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 Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698 		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
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otof otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:35802133 PMID:36633841 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:26130459 PMID:28492532 More... 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:28492532 PMID:28600779 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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:25741868 PMID:25914204 PMID:28332779 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:9536098 PMID:16199547 PMID:17468754 PMID:17576681 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: 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:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 More... RGD:10053611, RGD:12879399 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 C8h11orf52 similar to human chromosome 11 open reading frame 52 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 C8h11orf65 similar to human chromosome 11 open reading frame 65 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 Annotator: match by term: Louis-Bar syndrome ClinVar PMID:1098053 PMID:1160401 PMID:1849795 PMID:1943118 PMID:2166257 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		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 Cfap68 cilia and flagella associated protein 68 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 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 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 Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:27884168 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		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 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 PMID:31671381 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 Pou2af2 POU class 2 homeobox associating factor 2 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 Pou2af3 POU class 2 homeobox associating factor 3 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 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 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:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 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 with Oculomotor Apraxia Type 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 C8h11orf65 similar to human chromosome 11 open reading frame 65 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:2433832 PMID:8445618 PMID:8684395 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
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:18325573 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:33274957 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 Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33274957 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923 		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
protein:increased expression:serum		 CTD
RGD		 PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440 RGD:7829786, RGD:7829795 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:33274957 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 Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) RGD PMID:20882035 RGD:11071178 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to ClinVar
OMIM		 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 More... NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Pla2g7 phospholipase A2 group VII ISO ClinVar Annotator: match by term: Dermatitis, atopic, 2 ClinVar PMID:25741868 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 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 with Pulmonary and Cutaneous Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis OMIM
ClinVar		 PMID:34536415 NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693 		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
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome OMIM
ClinVar		 PMID:24242851 PMID:25741868 PMID:28492532 PMID:29259162 PMID:31775019 NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376 		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
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 More... 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:16199547 PMID:17576681 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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 More... 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 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:12167716 PMID:15885610 PMID:16247010 PMID:18042801 PMID:18635888 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:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... 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 1 ClinVar PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 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 Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,329,974...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271 		JBrowse link
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 2:27,201,713...27,202,126
Ensembl chr 2:27,201,713...27,202,258 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link