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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:DNA Repair-Deficiency Disorders
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Accession:DOID:9008840 term browser browse the term
Definition:Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
Synonyms:exact_synonym: Chromosome Instability Syndrome;   Chromosome Instability Syndromes;   DNA Repair Deficiency;   DNA Repair-Deficiencies;   DNA Repair-Deficiency Disorder;   Deficient DNA Repair;   Deficient DNA Repairs
 primary_id: MESH:D049914
 xref: EFO:0008499


show annotations for term's descendants           Sort by:
DNA Repair-Deficiency Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO RGD PMID:25859855 RGD:13207506 NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
G SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO associated with gastric carcinoma;protein:decreased expression:stomach (human) RGD PMID:31922331 RGD:126848759 NCBI chr13:30,409,979...30,576,270
Ensembl chr13:30,409,983...30,576,327 		JBrowse link
G WRN WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616805 NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,986...54,094,587 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOT8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,039,627...48,054,335
Ensembl chr17:48,039,628...48,054,335 		JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: ADA deficiency ClinVar PMID:9245985 PMID:10187774 PMID:12114496 PMID:14684682 PMID:15880681 More... NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276 		JBrowse link
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 		OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G CCN5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,131,236...47,146,455
Ensembl chr17:47,131,501...47,146,449 		JBrowse link
G CD247 CD247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 4:83,494,266...83,586,887
Ensembl chr 4:83,494,395...83,586,647 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:25741868 PMID:28492532 More... NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745 		JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CDH22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,339,683...48,471,705
Ensembl chr17:48,339,694...48,413,799 		JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,448...48,089,971 		JBrowse link
G DBNDD2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,686,220...47,729,663
Ensembl chr17:47,725,132...47,729,668 		JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11336668 PMID:12727634 PMID:21664875 PMID:25741868 PMID:25917813 More... NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028 		JBrowse link
G DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,994,658...48,017,568
Ensembl chr17:47,994,656...48,017,560 		JBrowse link
G ELMO2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,526,692...48,567,665
Ensembl chr17:48,526,700...48,567,657 		JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982 		JBrowse link
G GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,709,260...46,733,275
Ensembl chr17:46,709,393...46,737,560 		JBrowse link
G GTSF1L gametocyte specific factor 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,296,577...46,297,461
Ensembl chr17:46,296,577...46,297,461 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		JBrowse link
G IFT52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 		ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,590,302...46,665,326 JBrowse link
G KCNK15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,161,488...47,167,193
Ensembl chr17:47,160,774...47,166,382 		JBrowse link
G KCNS1 potassium voltage-gated channel modifier subfamily S member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,483,943...47,491,071
Ensembl chr17:47,483,947...47,492,567 		JBrowse link
G LOC100512873 antileukoproteinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,579,081...47,581,861 JBrowse link
G LOC100513767 colostrum trypsin inhibitor-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,755,665...47,759,724 JBrowse link
G LOC100621271 WAP four-disulfide core domain protein 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,899,971...47,901,404
Ensembl chr17:47,888,613...47,901,430 		JBrowse link
G LOC100738050 zinc finger protein 33B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr14:60,977,687...61,030,142 JBrowse link
G LOC100739507 WAP four-disulfide core domain protein 5-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,499,800...47,506,298
Ensembl chr17:47,499,935...47,506,306 		JBrowse link
G MATN4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,617,559...47,631,195
Ensembl chr17:47,617,620...47,630,458 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MYBL2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,256,245...46,287,929
Ensembl chr17:46,256,257...46,287,927 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:25326637 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603 		JBrowse link
G NCOA5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,231,490...48,263,956
Ensembl chr17:48,231,497...48,263,944 		JBrowse link
G NEURL2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,080,035...48,083,176
Ensembl chr17:48,080,048...48,084,027 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 More... NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,194,042 		JBrowse link
G OCSTAMP osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,703,937...48,711,690
Ensembl chr17:48,703,941...48,711,144 		JBrowse link
G OSER1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,673,560...46,686,144
Ensembl chr17:46,673,562...46,686,082 		JBrowse link
G PABPC1L poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,321,259...47,351,905
Ensembl chr17:47,321,264...47,350,556 		JBrowse link
G PCIF1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,120,263...48,132,003
Ensembl chr17:48,120,599...48,132,620 		JBrowse link
G PI3 peptidase inhibitor 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,522,402...47,524,451 JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195 		JBrowse link
G PKIG cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:1974554 PMID:2166947 PMID:3182793 PMID:8051429 PMID:9361033 More... NCBI chr17:46,933,418...47,044,044
Ensembl chr17:47,008,035...47,044,049 		JBrowse link
G PLTP phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,089,789...48,101,604
Ensembl chr17:48,089,786...48,101,515 		JBrowse link
G PTI pancreatic trypsin inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,773,060...47,780,746
Ensembl chr17:47,773,060...47,779,703 		JBrowse link
G R3HDML R3H domain containing like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,765,639...46,778,110
Ensembl chr17:46,766,401...46,777,329 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 		ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:10777560 PMID:11313270 PMID:15025726 PMID:16960852 PMID:23243423 More... NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,547,644...24,558,403 		JBrowse link
G RBPJL recombination signal binding protein for immunoglobulin kappa J region like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,631,432...47,642,169
Ensembl chr17:47,628,313...47,641,459 		JBrowse link
G RIMS4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,167,302...47,235,237
Ensembl chr17:47,167,305...47,235,386 		JBrowse link
G SDC4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,650,387...47,670,499 JBrowse link
G SERINC3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,904,841...46,924,842
Ensembl chr17:46,895,402...46,924,792 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,192,072...48,230,674
Ensembl chr17:48,192,075...48,230,661 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,714,180...48,792,280
Ensembl chr17:48,714,183...48,792,141 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		JBrowse link
G SLC35C2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,512,442...48,525,161
Ensembl chr17:48,512,803...48,525,143 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387 		JBrowse link
G SNX21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,033,608...48,039,633
Ensembl chr17:48,033,717...48,040,522 		JBrowse link
G SPATA25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,078,319...48,079,892
Ensembl chr17:48,077,667...48,079,619 		JBrowse link
G SPINT4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,960,786...47,963,417 JBrowse link
G STK4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,387,594...47,475,705
Ensembl chr17:47,387,600...47,475,718 		JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,686,184...47,694,045
Ensembl chr17:47,686,258...47,694,034 		JBrowse link
G TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,025,621...48,026,762
Ensembl chr17:48,024,687...48,028,651 		JBrowse link
G TOMM34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,352,144...47,376,571
Ensembl chr17:47,352,160...47,376,503 		JBrowse link
G TOX2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,433,005...46,577,076
Ensembl chr17:46,433,025...46,577,072 		JBrowse link
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824 		JBrowse link
G TP53TG5 TP53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,699,323...47,705,974
Ensembl chr17:47,699,270...47,703,212 		JBrowse link
G TTPAL alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:46,884,881...46,906,827
Ensembl chr17:46,884,977...46,902,359 		JBrowse link
G UBE2C ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,018,403...48,021,542
Ensembl chr17:48,018,400...48,021,534 		JBrowse link
G WFDC11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,907,017...47,914,586
Ensembl chr17:47,909,744...47,915,395 		JBrowse link
G WFDC13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,916,541...47,921,851 JBrowse link
G WFDC2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,816,452...47,824,087
Ensembl chr17:47,816,452...47,824,087 		JBrowse link
G WFDC3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,976,078...47,994,744 JBrowse link
G WFDC8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,863,302...47,877,267
Ensembl chr17:47,862,615...47,876,464 		JBrowse link
G WFDC9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,891,173...47,898,219
Ensembl chr17:47,891,320...47,894,220 		JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:47,298,020...47,317,826
Ensembl chr17:47,298,044...47,319,285 		JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,132,531...48,153,251
Ensembl chr17:48,132,404...48,153,181 		JBrowse link
G ZSWIM1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,073,236...48,078,314
Ensembl chr17:48,074,402...48,077,702 		JBrowse link
G ZSWIM3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr17:48,054,479...48,073,109
Ensembl chr17:48,054,482...48,073,095 		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 9:35,903,902...35,948,573
Ensembl chr 9:35,839,917...35,948,575 		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 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:25741868 PMID:27884168 PMID:28492532 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		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 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892 		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 9:36,077,004...36,119,936
Ensembl chr 9:36,077,192...36,119,920 		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 9:26,811,872...26,978,107
Ensembl chr 9:26,864,312...26,973,552 		JBrowse link
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,610,041...32,627,337
Ensembl chr 9:32,610,297...32,627,337 		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 9:26,634,616...26,642,520
Ensembl chr 9:26,634,708...26,642,512 		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 9:38,471,049...38,582,221
Ensembl chr 9:38,474,865...38,582,242 		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 9:31,720,586...31,999,730
Ensembl chr 9:31,720,849...31,994,581 		JBrowse link
G ATM ATM serine/threonine kinase 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: 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 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: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | 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: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome 		ClinVar
OMIM		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:29,808,849...29,815,345
Ensembl chr 7:29,808,849...29,815,318 		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 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147 		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 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		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 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | 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: Cerebello-oculocutaneous telangiectasia
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:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710 		JBrowse link
G C9H11orf87 chromosome 9 C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:37,297,438...37,939,922
Ensembl chr 9:37,613,308...37,620,660 		JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328 		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 9:28,376,716...28,407,350
Ensembl chr 9:28,376,732...28,407,348 		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 9:32,631,859...32,715,458
Ensembl chr 9:32,631,897...32,705,793 		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 9:27,812,944...27,858,293
Ensembl chr 9:27,812,929...27,859,568 		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 9:32,753,274...32,795,303
Ensembl chr 9:32,765,880...32,795,297 		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 9:39,629,921...39,641,769
Ensembl chr 9:39,612,409...39,660,648 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:30,259,603...31,469,860
Ensembl chr 9:30,572,372...31,469,858 		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 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,419,806...36,507,681
Ensembl chr 9:36,419,881...36,507,667 		JBrowse link
G CWC15 CWC15 spliceosome associated protein homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,035,501...27,047,280
Ensembl chr 9:27,035,510...27,047,224 		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 9:35,967,198...36,059,780
Ensembl chr 9:35,967,204...36,059,749 		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 9:33,674,524...33,707,648
Ensembl chr 9:33,674,268...33,707,618 		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 9:34,503,087...34,505,026
Ensembl chr 9:34,503,716...34,504,921 		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 9:37,006,571...37,265,973 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 9:39,666,454...39,734,909 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 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806 		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 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		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 9:36,141,330...36,208,125
Ensembl chr 9:36,142,316...36,208,696 		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 9:27,134,039...27,163,278
Ensembl chr 9:27,134,056...27,164,703 		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 9:27,790,139...27,813,418
Ensembl chr 9:27,790,150...27,812,222 		JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:38,376,147...38,399,026
Ensembl chr 9:38,375,984...38,404,832 		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 9:39,623,871...39,629,987
Ensembl chr 9:39,622,902...39,629,836 		JBrowse link
G FUT4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:26,679,540...26,686,217
Ensembl chr 9:26,679,868...26,681,541 		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 9:35,442,060...35,803,989
Ensembl chr 9:35,442,091...35,805,357 		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 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581 		JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		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 9:39,278,888...39,304,816
Ensembl chr 9:39,276,995...39,304,804 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		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 9:35,870,911...35,903,870
Ensembl chr 9:35,874,041...35,903,729 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,306,276...39,326,825
Ensembl chr 9:39,306,300...39,327,072 		JBrowse link
G LOC100512977 KDEL motif-containing protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483 		JBrowse link
G LOC100522887 caspase-13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,167,567...35,185,791 JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854 		JBrowse link
G LOC100627380 lysine-specific demethylase 4D-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,083,348...27,085,693 JBrowse link
G LOC641352 caspase-15 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr13:24,046,127...24,068,431 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 9:27,993,319...28,372,982
Ensembl chr 9:27,997,887...28,371,397 		JBrowse link
G MIR34C-1 microRNA mir-34c-1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357 		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 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		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 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		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 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		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 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047 		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 9:33,366,342...33,379,828
Ensembl chr 9:33,366,345...33,379,789 		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 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		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 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		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 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		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 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		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 9:35,828,697...35,839,579
Ensembl chr 9:35,830,837...35,862,114 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 PMID:33357406 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:23621914 PMID:25085752 PMID:25741868 PMID:26845104 PMID:27884168 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 9:27,864,335...27,974,448
Ensembl chr 9:27,854,491...27,974,423 		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 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969 		JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 9:36,554,800...36,620,515
Ensembl chr 9:36,554,671...36,620,446 		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 9:34,388,636...34,621,227
Ensembl chr 9:34,388,643...34,621,244 		JBrowse link
G PGR progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221 		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 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401 		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 9:26,679,960...26,751,856
Ensembl chr 9:26,703,340...26,751,854 		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 9:39,121,422...39,144,636
Ensembl chr 9:39,119,052...39,144,606 		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 9:39,024,067...39,065,379
Ensembl chr 9:39,024,631...39,062,684 		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 9:39,071,994...39,081,493
Ensembl chr 9:39,071,706...39,081,486 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,479,040...39,518,773
Ensembl chr 9:39,480,331...39,517,629 		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 9:36,341,339...36,403,690
Ensembl chr 9:36,341,339...36,403,654 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097 		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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		JBrowse link
G SESN3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,207,239...27,279,205
Ensembl chr 9:27,207,236...27,298,628 		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 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515 		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 9:36,243,059...36,341,361
Ensembl chr 9:36,288,558...36,341,284 		JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,232,955...36,242,405
Ensembl chr 9:36,232,968...36,242,405 		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 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718 		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 9:33,084,820...33,160,346
Ensembl chr 9:33,084,822...33,160,311 		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 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184 		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 9:32,811,629...32,924,926
Ensembl chr 9:32,811,226...32,925,606 		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 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027 		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 ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		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 | ClinVar Annotator: match by term: PIK3R5-related condition OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 NCBI chr12:53,979,206...54,046,927
Ensembl chr12:53,979,207...54,054,490 		JBrowse link
ataxia-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 type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088 		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 Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710 		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 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		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 | ClinVar Annotator: match by term: PCNA-related condition OMIM
ClinVar		 PMID:24911150 PMID:25741868 PMID:28492532 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,192,924 		JBrowse link
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,540,698...49,599,323
Ensembl chr 7:49,540,879...49,599,319 		JBrowse link
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,655,694...54,776,140
Ensembl chr 7:54,655,804...54,770,131 		JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,705,091...47,760,797
Ensembl chr 7:47,705,121...47,762,538 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G ADAL adenosine deaminase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,089,422...128,125,691
Ensembl chr 1:128,095,940...128,120,765 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,919,398...47,994,528
Ensembl chr 7:47,929,033...47,994,453 		JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,006,356...51,363,855
Ensembl chr 7:51,006,366...51,363,620 		JBrowse link
G ADPGK ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,584,038...60,623,898
Ensembl chr 7:60,584,051...60,623,929 		JBrowse link
G AEN apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,200,625...191,211,884
Ensembl chr 1:191,200,632...191,219,961 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:192,725,367...193,534,530
Ensembl chr 1:192,725,372...193,534,417 		JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:87,889,384...88,222,854 JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,667,342...52,718,775
Ensembl chr 7:52,667,362...52,718,757 		JBrowse link
G ANKDD1A ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,095,472...107,185,484
Ensembl chr 1:107,094,123...107,135,517 		JBrowse link
G ANKRD34C ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,404,846...48,421,101
Ensembl chr 7:48,405,156...48,421,098 		JBrowse link
G ANKRD63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,032,619...131,040,348
Ensembl chr 1:131,034,252...131,035,406 		JBrowse link
G ANP32A acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,664,251...166,703,814 JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,351,081...55,373,856
Ensembl chr 7:55,351,087...55,373,881 		JBrowse link
G ANXA2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,202,649...52,294,154
Ensembl chr 7:52,256,159...52,294,149 		JBrowse link
G AP3S2 adaptor-related protein complex 3, sigma 2 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,395,159...55,462,352
Ensembl chr 7:55,391,913...55,469,858 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,880,456...120,946,031 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,549,297...108,763,279
Ensembl chr 1:108,730,298...108,763,401 		JBrowse link
G AQP9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,794,040...113,848,683 		JBrowse link
G AQR aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,135,854...136,235,538
Ensembl chr 1:136,121,111...136,233,825 		JBrowse link
G ARID3B AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,932,450...58,998,707
Ensembl chr 7:58,932,461...58,998,711 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,707,483...60,824,117
Ensembl chr 7:60,710,051...60,824,101 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,259,118...49,450,471
Ensembl chr 7:49,259,651...49,450,461 		JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,469,015...55,483,632
Ensembl chr 7:55,468,568...55,483,536 		JBrowse link
G ARPP19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,134,318...119,157,169
Ensembl chr 1:119,134,851...119,157,352 		JBrowse link
G ATOSA atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:118,993,862...119,124,472
Ensembl chr 1:119,020,990...119,124,464 		JBrowse link
G ATP8B4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,629,072...121,914,633
Ensembl chr 1:121,650,951...121,914,712 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BAHD1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,849,835...130,874,735
Ensembl chr 1:130,849,842...130,875,974 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334 		JBrowse link
G BCL2A1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,887,227...48,897,667
Ensembl chr 7:48,887,094...48,897,870 		JBrowse link
G BCL2L10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,594,004...119,607,709 JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chr 7:53,317,515...53,412,649
Ensembl chr 7:53,317,540...53,412,645 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G BMF Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,178,021...131,199,668
Ensembl chr 1:131,178,315...131,200,393 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,651,179...51,679,781
Ensembl chr 7:51,652,542...51,679,775 		JBrowse link
G BNIP2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,272,883...112,370,404
Ensembl chr 1:112,344,228...112,370,404 		JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,877,446...51,925,886
Ensembl chr 7:51,877,354...51,924,869 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G C1H15orf48 chromosome 1 C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,304,461...126,307,951
Ensembl chr 1:126,304,474...126,310,749 		JBrowse link
G C1H15orf61 chromosome 1 C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,436,810...165,441,736
Ensembl chr 1:165,436,814...165,441,736 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,824,467...109,827,631 JBrowse link
G C7H15orf39 chromosome 7 C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,380,602...58,390,117
Ensembl chr 7:58,381,034...58,386,366 		JBrowse link
G C7H15orf40 chromosome 7 C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,929,349...51,935,724
Ensembl chr 7:51,929,373...51,935,723 		JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		JBrowse link
G CALML4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,089,583...166,099,794
Ensembl chr 1:166,083,629...166,099,593 		JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109 		JBrowse link
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,753,107...130,764,747
Ensembl chr 1:130,753,186...130,764,746 		JBrowse link
G CCDC33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,188,624...59,224,071
Ensembl chr 7:59,190,179...59,290,877 		JBrowse link
G CCDC9B coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,974,635...130,983,973
Ensembl chr 1:130,974,664...130,983,971 		JBrowse link
G CCNB2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,907,047...112,942,218
Ensembl chr 1:112,907,047...112,942,235 		JBrowse link
G CCNDBP1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,253,111...128,269,534
Ensembl chr 1:128,253,035...128,269,452 		JBrowse link
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,447,171...116,492,917
Ensembl chr 1:116,449,079...116,492,907 		JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,703,283...59,733,910
Ensembl chr 7:59,703,289...59,733,777 		JBrowse link
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,301,076...134,538,874
Ensembl chr 1:134,301,103...134,538,461 		JBrowse link
G CELF6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,931,100...60,960,929
Ensembl chr 7:60,930,982...60,960,119 		JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,622,534...49,792,547
Ensembl chr 7:49,622,539...49,792,543 		JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,876,146...122,979,851
Ensembl chr 1:122,876,141...122,979,845 		JBrowse link
G CFAP161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,912,450...49,940,708
Ensembl chr 7:49,927,305...49,940,707 		JBrowse link
G CGNL1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,424,148...114,628,331
Ensembl chr 1:114,424,151...114,598,823 		JBrowse link
G CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,360,510...130,363,332
Ensembl chr 1:130,360,514...130,363,308 		JBrowse link
G CHP1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,073,919...130,112,461
Ensembl chr 1:130,073,928...130,112,751 		JBrowse link
G CHRM5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,423,768...80,429,187
Ensembl chr 7:80,427,360...80,428,963 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,338,819...47,359,064 JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,951,618...107,969,306
Ensembl chr 1:107,951,646...107,969,298 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,256,533 		JBrowse link
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,935,284...57,939,020
Ensembl chr 7:57,935,610...57,938,958 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,852,533...127,859,066 JBrowse link
G CLK3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,895,407...58,909,616
Ensembl chr 7:58,895,419...58,909,551 		JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808 		JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,173,887...163,222,067
Ensembl chr 1:163,173,891...163,222,031 		JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,276,954...58,283,128
Ensembl chr 7:58,276,957...58,283,114 		JBrowse link
G COPS2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,542,324...122,574,462
Ensembl chr 1:122,542,387...122,578,858 		JBrowse link
G CORO2B coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,465,870...166,608,840
Ensembl chr 1:166,465,953...166,608,363 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,622,969...58,644,024
Ensembl chr 7:58,622,964...58,644,021 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732 		JBrowse link
G CPLX3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,712,743...58,717,028
Ensembl chr 7:58,712,744...58,716,997 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970 		JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:53,146,317...53,255,985
Ensembl chr 7:53,146,404...53,255,977 		JBrowse link
G CSK C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,736,473...58,755,034
Ensembl chr 7:58,736,531...58,755,260 		JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,690,049...107,884,054
Ensembl chr 1:107,690,065...107,884,045 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335 		JBrowse link
G CTDSPL2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,029,445...127,125,747
Ensembl chr 1:127,028,887...127,125,392 		JBrowse link
G CTSH cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072 		JBrowse link
G CTXN2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,570,291...123,582,883
Ensembl chr 1:123,574,703...123,582,998 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G DAPK2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,997,274...108,131,723
Ensembl chr 1:107,997,293...108,132,781 		JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,661,448...163,790,264
Ensembl chr 1:163,660,244...163,790,334 		JBrowse link
G DET1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,263,449...191,284,973
Ensembl chr 1:191,263,448...191,284,967 		JBrowse link
G DIS3L DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,310,120...164,352,182
Ensembl chr 1:164,310,448...164,353,537 		JBrowse link
G DISP2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,931,909...130,962,780
Ensembl chr 1:130,937,400...130,952,046 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,331,217...116,431,673
Ensembl chr 1:116,332,630...116,430,984 		JBrowse link
G DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,660,361...47,674,890
Ensembl chr 7:47,656,541...47,675,582 		JBrowse link
G DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,516,725...130,559,233
Ensembl chr 1:130,516,779...130,559,234 		JBrowse link
G DPH6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,577,558...136,022,910
Ensembl chr 1:135,577,936...135,751,890 		JBrowse link
G DPP8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,446,890...163,517,434
Ensembl chr 1:163,446,899...163,517,413 		JBrowse link
G DTWD1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,121,332...122,139,322
Ensembl chr 1:122,118,951...122,139,272 		JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,572,533...126,603,084
Ensembl chr 1:126,572,492...126,603,082 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,510...126,641,406 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,605,142...126,615,736
Ensembl chr 1:126,605,142...126,615,719 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,616,631...126,620,359
Ensembl chr 1:126,613,201...126,623,388 		JBrowse link
G DUT deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,451,207...123,462,267
Ensembl chr 1:123,450,858...123,462,245 		JBrowse link
G EDC3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,828,693...58,895,475
Ensembl chr 7:58,828,727...58,897,919 		JBrowse link
G EFL1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,839,725...50,977,024
Ensembl chr 7:50,839,725...50,977,024 		JBrowse link
G EHD4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,374,515...129,460,206
Ensembl chr 1:129,374,613...129,458,686 		JBrowse link
G EID1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,810,484...122,812,481
Ensembl chr 1:122,811,556...122,812,131 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226 		JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,227...127,019,147 		JBrowse link
G ELL3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,781,357...127,784,803
Ensembl chr 1:127,781,403...127,784,843 		JBrowse link
G EMC4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,266,001...80,270,691
Ensembl chr 7:80,265,446...80,270,691 		JBrowse link
G EMC7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,391,198...80,408,340
Ensembl chr 7:80,391,189...80,446,528 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,450,508...56,540,275
Ensembl chr 7:56,450,520...56,540,253 		JBrowse link
G EXD1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,112,461...130,153,485
Ensembl chr 1:130,112,847...130,153,478 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FAM219B family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,650,165...58,656,233
Ensembl chr 7:58,650,754...58,659,479 		JBrowse link
G FAM227B family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,139,343...122,373,488
Ensembl chr 1:122,149,486...122,373,470 		JBrowse link
G FAM81A family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,548,260...112,677,675
Ensembl chr 1:112,548,265...112,620,769 		JBrowse link
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,786,198...132,819,291
Ensembl chr 1:132,789,275...132,819,489 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,408,227...108,411,937
Ensembl chr 1:108,408,995...108,411,768 		JBrowse link
G FBXO22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,146,874...56,189,921
Ensembl chr 7:56,146,880...56,186,317 		JBrowse link
G FEM1B fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,161,548...166,178,086
Ensembl chr 1:166,162,883...166,175,937 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,472,947...53,485,084
Ensembl chr 7:53,472,947...53,485,082 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750 		JBrowse link
G FOXB1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,997,638...112,000,550
Ensembl chr 1:111,997,642...112,000,550 		JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665 		JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,144,469...52,194,142
Ensembl chr 7:52,144,506...52,194,133 		JBrowse link
G FSIP1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,510,460...131,719,407
Ensembl chr 1:131,510,455...131,719,254 		JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,455,634...53,472,791
Ensembl chr 7:53,460,017...53,472,787 		JBrowse link
G GABPB1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,410,276...121,488,165
Ensembl chr 1:121,413,506...121,489,806 		JBrowse link
G GALK2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,370,616...122,542,287
Ensembl chr 1:122,369,545...122,542,222 		JBrowse link
G GANC glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,021,114...129,098,313
Ensembl chr 1:129,021,115...129,098,269 		JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871 		JBrowse link
G GCHFR GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,559,223...130,563,598
Ensembl chr 1:130,554,978...130,559,597 		JBrowse link
G GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,424,212...112,540,984
Ensembl chr 1:112,422,879...112,540,983 		JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,798,692...55,808,445
Ensembl chr 7:55,806,636...55,807,790 		JBrowse link
G GJD2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,310,759...136,328,060
Ensembl chr 1:136,324,192...136,327,347 		JBrowse link
G GLCE glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,007,930...167,122,196
Ensembl chr 1:167,007,939...167,122,186 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041 		JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,537,551...119,589,865 		JBrowse link
G GOLM2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,132,387...127,238,488
Ensembl chr 1:127,131,105...127,238,601 		JBrowse link
G GPR176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,355,332...131,494,967
Ensembl chr 1:131,365,180...131,494,959 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,617,041...136,629,293
Ensembl chr 1:136,617,105...136,629,292 		JBrowse link
G GTF2A2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,371,276...112,399,541
Ensembl chr 1:112,390,594...112,402,265 		JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,525,872...163,567,649
Ensembl chr 1:163,525,965...163,588,798 		JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,519,790...54,537,429
Ensembl chr 7:54,519,800...54,537,434 		JBrowse link
G HAUS2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,820,551...128,839,027
Ensembl chr 1:128,819,957...128,839,134 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G HDC histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,505,677...121,525,416
Ensembl chr 1:121,505,751...121,525,252 		JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,525,984...53,527,913
Ensembl chr 7:53,525,989...53,528,004 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339 		JBrowse link
G HMG20A high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,504,048...57,570,035
Ensembl chr 7:57,504,465...57,570,023 		JBrowse link
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828 		JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,451,822...47,474,778
Ensembl chr 7:47,449,036...47,474,648 		JBrowse link
G ICE2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,489,759...111,560,751
Ensembl chr 1:111,489,772...111,561,911 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,759,436...47,778,948
Ensembl chr 7:47,759,439...47,778,956 		JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,347,331...163,392,164
Ensembl chr 1:163,348,819...163,391,869 		JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,396,224...163,435,902
Ensembl chr 1:163,396,234...163,436,063 		JBrowse link
G IL16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346 		JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,023,368...58,024,496
Ensembl chr 7:58,023,368...58,024,496 		JBrowse link
G INO80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,201,705...130,341,627
Ensembl chr 1:130,201,718...130,342,838 		JBrowse link
G INSYN1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,663,878...59,680,847
Ensembl chr 7:59,665,735...59,677,104 		JBrowse link
G INTS14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,565,826...163,603,185
Ensembl chr 1:163,567,777...163,603,184 		JBrowse link
G IQCH IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,193,090...165,419,528
Ensembl chr 1:165,193,111...165,431,058 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,478,706...47,529,242 		JBrowse link
G ISG20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,155,853...191,195,601
Ensembl chr 1:191,183,599...191,195,475 		JBrowse link
G ISL2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,571,352...56,579,828
Ensembl chr 7:56,571,419...56,577,253 		JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,349,674...59,352,936
Ensembl chr 7:59,349,675...59,352,839 		JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,385,021...59,393,185
Ensembl chr 7:59,386,241...59,388,481 		JBrowse link
G ITGA11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,186,601...166,311,046
Ensembl chr 1:166,186,613...166,310,800 		JBrowse link
G ITPKA inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,867,261...129,877,762
Ensembl chr 1:129,867,642...129,875,639 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,984...130,910,586 		JBrowse link
G JMJD7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,525,369...129,533,286
Ensembl chr 1:129,525,572...129,533,305 		JBrowse link
G KATNBL1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,287,989...80,383,036
Ensembl chr 7:80,288,066...80,383,037 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,113,280...163,116,889
Ensembl chr 1:163,113,324...163,116,887 		JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,239,973...167,281,250
Ensembl chr 1:167,239,997...167,281,245 		JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
G KLHL25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:88,249,009...88,291,958
Ensembl chr 7:88,262,385...88,264,691 		JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,652,493...130,728,989 JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078 		JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,909,690...108,924,509
Ensembl chr 1:108,909,693...108,924,511 		JBrowse link
G LARP6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,508,472...168,530,439
Ensembl chr 1:168,507,976...168,530,239 		JBrowse link
G LCMT2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,125,674...128,131,064 JBrowse link
G LCTL lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,526,477...164,540,177
Ensembl chr 1:164,526,502...164,540,118 		JBrowse link
G LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,804,992...119,842,343
Ensembl chr 1:119,805,006...119,859,434 		JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,684,591...57,890,121
Ensembl chr 7:57,684,589...57,890,126 		JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LMAN1L lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,717,159...58,730,752
Ensembl chr 7:58,717,821...58,730,172 		JBrowse link
G LOC100152206 C2 calcium-dependent domain-containing protein 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,920,142...109,927,760 JBrowse link
G LOC100627175 GRAM domain containing 2-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,638,097...169,664,774 JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,717,518...48,873,492
Ensembl chr 7:48,717,851...48,873,455 		JBrowse link
G LOXL1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149 		JBrowse link
G LPCAT4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,140,969...80,155,040
Ensembl chr 7:80,141,203...80,149,077 		JBrowse link
G LRRC49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,553,361...168,711,739
Ensembl chr 1:168,544,421...168,700,891 		JBrowse link
G LRRC57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,839,137...128,845,749
Ensembl chr 1:128,839,204...128,847,431 		JBrowse link
G LTK leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,863,837...129,867,254 JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,009,417...120,043,146
Ensembl chr 1:120,026,532...120,043,127 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,498,917...53,519,512
Ensembl chr 7:53,498,966...53,519,688 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203 		JBrowse link
G MAP1A microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,916,639...127,936,952
Ensembl chr 1:127,916,644...127,936,955 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,458,263...165,733,452
Ensembl chr 1:165,458,258...165,740,297 		JBrowse link
G MAPK6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,725,026...119,770,988
Ensembl chr 1:119,725,029...119,771,312 		JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,533,535...129,589,084
Ensembl chr 1:129,532,097...129,588,095 		JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,894,929...164,275,439
Ensembl chr 1:163,894,312...164,275,442 		JBrowse link
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012 		JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,807,309...49,817,725
Ensembl chr 7:49,807,125...49,817,658 		JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,322,016...55,327,600
Ensembl chr 7:55,322,274...55,323,539 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,341,941...55,345,824
Ensembl chr 7:55,342,935...55,345,879 		JBrowse link
G MEX3B mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,747,828...50,753,119
Ensembl chr 7:50,747,841...50,751,777 		JBrowse link
G MFAP1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,741,407...127,756,168
Ensembl chr 1:127,741,455...127,756,205 		JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,539,970...54,554,885
Ensembl chr 7:54,539,970...54,571,747 		JBrowse link
G MGA MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408 		JBrowse link
G MINAR1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,501,067...48,539,300
Ensembl chr 7:48,501,078...48,539,300 		JBrowse link
G MINDY2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,171,047...113,258,761
Ensembl chr 1:113,176,223...113,258,648 		JBrowse link
G MIR1839 microRNA mir-1839 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,196,776...52,196,855
Ensembl chr 7:52,196,776...52,196,855 		JBrowse link
G MIR184 microRNA mir-184 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099 		JBrowse link
G MIR9-3 microRNA mir-9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,948,452...54,948,532
Ensembl chr 7:54,948,447...54,948,536 		JBrowse link
G MNS1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,471,904...115,526,344
Ensembl chr 1:115,471,922...115,553,524 		JBrowse link
G MORF4L1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,050,050...48,075,799
Ensembl chr 7:48,050,045...48,075,795 		JBrowse link
G MPI mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,657,960...58,666,803
Ensembl chr 7:58,657,662...58,666,929 		JBrowse link
G MRPL46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,321,990...191,331,320
Ensembl chr 1:191,321,999...191,331,319 		JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,310,547...191,321,951
Ensembl chr 1:191,309,198...191,321,648 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564 		JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,582,836...123,642,879
Ensembl chr 1:123,600,908...123,638,236 		JBrowse link
G MYO1E myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,677,545...112,902,005
Ensembl chr 1:112,677,821...112,901,993 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725 		JBrowse link
G MYO5C myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,407,298...119,536,443
Ensembl chr 1:119,407,351...119,536,419 		JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,370,028...169,596,771
Ensembl chr 1:169,374,311...169,596,412 		JBrowse link
G MYZAP myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,287,622...114,386,418
Ensembl chr 1:114,287,627...114,386,427 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522 		JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,064,984...60,299,892
Ensembl chr 7:60,064,994...60,300,562 		JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,824,625...55,835,464
Ensembl chr 7:55,827,375...55,835,459
Ensembl chr 7:55,827,375...55,835,459 		JBrowse link
G NMB neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,880,817...52,886,651
Ensembl chr 7:52,883,128...52,886,642 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G NOX5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,866,930...166,907,994
Ensembl chr 1:166,868,087...166,907,522 		JBrowse link
G NPTN neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,768,414...59,840,594
Ensembl chr 7:59,714,080...59,840,591 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,358,662...169,373,175
Ensembl chr 1:169,360,729...169,366,087 		JBrowse link
G NRG4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,179,713...56,311,408
Ensembl chr 7:56,167,959...56,311,270 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chr 4:14,359,323...14,598,192
Ensembl chr 4:14,358,651...14,598,077 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327 		JBrowse link
G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,992,797...130,065,641
Ensembl chr 1:129,992,804...130,065,605 		JBrowse link
G NUTM1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,149,764...80,159,497
Ensembl chr 7:80,149,619...80,160,620 		JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,325,225...107,338,475
Ensembl chr 1:107,325,191...107,339,309 		JBrowse link
G OIP5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,036,478...130,054,058
Ensembl chr 1:130,036,480...130,047,041 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:118,913,400...118,958,140
Ensembl chr 1:118,913,460...118,917,334 		JBrowse link
G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,039,313...131,077,420
Ensembl chr 1:131,039,318...131,076,631 		JBrowse link
G PAQR5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,154,636...167,234,835
Ensembl chr 1:167,154,660...167,231,039 		JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,292,778...163,320,047
Ensembl chr 1:163,292,784...163,320,021 		JBrowse link
G PCLAF PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,659,509...107,669,477
Ensembl chr 1:107,659,509...107,670,954 		JBrowse link
G PDCD7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,157,881...163,172,528
Ensembl chr 1:163,156,925...163,170,228 		JBrowse link
G PDE8A phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,410,766...52,558,482
Ensembl chr 7:52,410,779...52,557,645 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196 		JBrowse link
G PEAK1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,219,506...57,503,807
Ensembl chr 7:57,223,851...57,503,639 		JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,256,239...55,264,253
Ensembl chr 7:55,256,220...55,264,247 		JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,957,114...166,087,242
Ensembl chr 1:165,957,132...166,087,239 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,435,725...116,448,887
Ensembl chr 1:116,435,820...116,448,972 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,168 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,492,910...116,519,673
Ensembl chr 1:116,491,886...116,532,934 		JBrowse link
G PKM pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,971,807...61,032,780
Ensembl chr 7:60,975,667...61,004,316
Ensembl chr 7:60,975,667...61,004,316 		JBrowse link
G PLA2G4B phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,514,801...129,524,365
Ensembl chr 1:129,514,346...129,524,313 		JBrowse link
G PLA2G4D phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,251,495...129,270,952
Ensembl chr 1:129,247,159...129,271,028 		JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,288,727...129,364,034
Ensembl chr 1:129,289,732...129,364,021 		JBrowse link
G PLA2G4F phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,200,568...129,218,417
Ensembl chr 1:129,201,069...129,217,008 		JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,005,408...131,031,864
Ensembl chr 1:131,005,408...131,028,689 		JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,186,284...107,209,226
Ensembl chr 1:107,186,288...107,218,532 		JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,237,517...55,250,797
Ensembl chr 7:55,236,348...55,250,797 		JBrowse link
G PML PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G POLR2M RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,256,457...114,266,862
Ensembl chr 1:114,256,460...114,266,875 		JBrowse link
G PPCDC phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,505,969...58,549,481
Ensembl chr 7:58,525,143...58,549,430 		JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,893,253 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451 		JBrowse link
G PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,473,397...130,509,561
Ensembl chr 1:130,485,346...130,509,559 		JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,869,749...55,900,640
Ensembl chr 7:55,869,821...55,900,978 		JBrowse link
G PRTG protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,132,269...116,275,678
Ensembl chr 1:116,132,165...116,268,631 		JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,440,576...47,448,599
Ensembl chr 7:47,434,919...47,448,891 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,078,176...58,164,411
Ensembl chr 7:58,078,389...58,164,405 		JBrowse link
G PYGO1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,293,361...116,326,753
Ensembl chr 1:116,292,642...116,322,375 		JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,858,254...163,887,741
Ensembl chr 1:163,858,123...163,891,527 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,772,851...108,840,222
Ensembl chr 1:108,772,851...108,840,227 		JBrowse link
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136 		JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,948,190...51,953,605 JBrowse link
G RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,121,415...48,246,749
Ensembl chr 7:48,121,419...48,246,749 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,702,495...132,786,536
Ensembl chr 1:132,702,541...132,786,532 		JBrowse link
G RASL12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,089,440...163,104,027
Ensembl chr 1:163,089,444...163,103,523 		JBrowse link
G RBPMS2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,259,302...107,296,527
Ensembl chr 1:107,259,351...107,296,524 		JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,546,666...53,557,718
Ensembl chr 7:53,547,077...53,558,076 		JBrowse link
G RCN2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,040,872...57,058,277
Ensembl chr 7:57,041,003...57,059,330 		JBrowse link
G REC114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,833,229...59,941,452
Ensembl chr 7:59,838,480...59,941,418 		JBrowse link
G RFX7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,732,167...115,871,951
Ensembl chr 1:115,734,347...115,871,084 		JBrowse link
G RHCG Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,046,244...55,071,504
Ensembl chr 7:55,046,245...55,071,475 		JBrowse link
G RHOV ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,443,602...130,445,664
Ensembl chr 1:130,443,579...130,445,661 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014 		JBrowse link
G RMDN3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,574,283...130,591,580
Ensembl chr 1:130,574,237...130,615,722 		JBrowse link
G RNF111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,961,466...113,059,606
Ensembl chr 1:112,961,468...113,059,600 		JBrowse link
G RORA RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:110,719,004...111,482,807
Ensembl chr 1:111,375,457...111,477,703 		JBrowse link
G RPAP1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,838,556...129,857,038
Ensembl chr 1:129,838,585...129,857,041 		JBrowse link
G RPL4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,476,269...164,481,765
Ensembl chr 1:164,475,357...164,481,534 		JBrowse link
G RPLP1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,296,084...167,298,264
Ensembl chr 1:167,296,094...167,298,263 		JBrowse link
G RPP25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,605,850...58,610,086
Ensembl chr 7:58,608,543...58,610,078 		JBrowse link
G RPS17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,386,342...52,389,003
Ensembl chr 7:52,386,036...52,390,599 		JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,881,330...108,886,334
Ensembl chr 1:108,881,552...108,890,283 		JBrowse link
G RPUSD2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,741,191...130,746,974
Ensembl chr 1:130,738,188...130,746,959 		JBrowse link
G RSL24D1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,612,335...116,629,161
Ensembl chr 1:116,612,330...116,629,141 		JBrowse link
G RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,886,798...129,942,845
Ensembl chr 1:129,886,800...129,943,181 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		JBrowse link
G SAXO2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,977,040...50,999,026
Ensembl chr 7:50,976,969...50,999,121 		JBrowse link
G SCAMP2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,672,638...58,699,145
Ensembl chr 7:58,672,664...58,699,142 		JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,550,190...58,577,894
Ensembl chr 7:58,550,198...58,559,310 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,583,247...57,012,312
Ensembl chr 7:56,583,160...57,011,914 		JBrowse link
G SCG3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,045,302...120,090,035
Ensembl chr 1:120,045,309...120,138,260 		JBrowse link
G SCG5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,525,920...136,590,021
Ensembl chr 1:136,525,944...136,593,583 		JBrowse link
G SEC11A SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,829,267...52,872,008
Ensembl chr 7:52,829,305...52,875,623 		JBrowse link
G SECISBP2L SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,633,628...122,688,611
Ensembl chr 1:122,633,736...122,688,603 		JBrowse link
G SEMA4B semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,752,854...55,793,982
Ensembl chr 7:55,753,097...55,793,980 		JBrowse link
G SEMA6D semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,987,528...124,586,062
Ensembl chr 1:123,987,528...124,043,986 		JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,094,919...59,119,534
Ensembl chr 7:59,094,932...59,119,532 		JBrowse link
G SENP8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,596,816...169,615,498
Ensembl chr 1:169,596,200...169,616,138 		JBrowse link
G SERF2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,765,760...127,767,518
Ensembl chr 1:127,761,345...127,767,520 		JBrowse link
G SERINC4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,760,374...127,764,787
Ensembl chr 1:127,760,175...127,765,798 		JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,812,996...47,824,926
Ensembl chr 7:47,813,512...47,824,760 		JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,381,091...51,514,253
Ensembl chr 7:51,381,097...51,514,225 		JBrowse link
G SHC4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,722,745...122,871,424
Ensembl chr 1:122,725,904...122,871,426 		JBrowse link
G SHF Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,549,736...126,570,657
Ensembl chr 1:126,549,747...126,570,859 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971 		JBrowse link
G SKIC8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,641,103...47,661,353
Ensembl chr 7:47,641,162...47,659,866 		JBrowse link
G SKOR1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,753,522...165,766,227
Ensembl chr 1:165,751,321...165,762,299 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,603,223...163,662,071
Ensembl chr 1:163,604,594...163,658,318 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
G SLC27A2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,530,449...121,578,994
Ensembl chr 1:121,526,295...121,579,120 		JBrowse link
G SLC28A1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,606,428...52,652,928
Ensembl chr 7:52,605,289...52,652,876 		JBrowse link
G SLC28A2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,472,500...126,511,207
Ensembl chr 1:126,472,525...126,511,095 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,236,971...126,268,102
Ensembl chr 1:126,237,032...126,268,094 		JBrowse link
G SLC51B SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488 		JBrowse link
G SLTM SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,085,095...113,140,604
Ensembl chr 1:113,084,008...113,136,599 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G SNAP23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,849,465...128,888,972
Ensembl chr 1:128,847,931...128,888,947 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,467,599...164,475,011 		JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,038,917...58,065,972
Ensembl chr 7:58,038,995...58,071,243 		JBrowse link
G SNX1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,903,954...107,949,920
Ensembl chr 1:107,903,741...107,949,923 		JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,699...107,897,529 		JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,999,447...58,015,598
Ensembl chr 7:57,999,459...58,014,441 		JBrowse link
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,659,198...126,701,084
Ensembl chr 1:126,655,156...126,701,138 		JBrowse link
G SPESP1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,818,174...166,839,717
Ensembl chr 1:166,818,037...166,841,693 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:107,011,547...107,036,347 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
G SPTBN5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,461,598...129,514,380
Ensembl chr 1:129,462,568...129,511,568 		JBrowse link
G SQOR sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,078,335...126,137,407
Ensembl chr 1:126,076,161...126,137,062 		JBrowse link
G SRP14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,241,561...131,247,693
Ensembl chr 1:131,241,612...131,253,411 		JBrowse link
G STARD5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,107,033...50,118,652
Ensembl chr 7:50,107,035...50,118,629 		JBrowse link
G STARD9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,656,375...128,808,951 JBrowse link
G STOML1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,448,500...59,461,208
Ensembl chr 7:59,452,176...59,461,206 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,011...59,347,266 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339 		JBrowse link
G TBC1D21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,535,023...59,549,720
Ensembl chr 7:59,535,593...59,548,888 		JBrowse link
G TBC1D2B TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,839,380...47,927,287
Ensembl chr 7:47,839,392...47,929,092 		JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,738,520...126,767,948
Ensembl chr 1:126,738,663...126,768,126 		JBrowse link
G TEX9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,526,738...115,607,970
Ensembl chr 1:115,526,740...115,607,894 		JBrowse link
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,191,647...128,217,249
Ensembl chr 1:128,191,630...128,217,656 		JBrowse link
G TGM7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,153,998...128,185,105
Ensembl chr 1:128,159,562...128,185,274 		JBrowse link
G THBS1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,751,403...169,328,559
Ensembl chr 1:168,751,582...169,323,977 		JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,142,957...55,200,259
Ensembl chr 7:55,143,240...55,200,640 		JBrowse link
G TIPIN TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,349,196...164,369,297
Ensembl chr 1:164,350,705...164,369,223 		JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,808,508...167,855,913
Ensembl chr 1:167,808,510...167,855,911 		JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,208,663...109,680,663
Ensembl chr 1:109,208,672...109,584,727 		JBrowse link
G TLNRD1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,833,640...49,835,735
Ensembl chr 7:49,833,210...49,837,331 		JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,815,109...51,844,938
Ensembl chr 7:51,815,530...51,845,163 		JBrowse link
G TMC3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,128,522...50,184,061
Ensembl chr 7:50,124,860...50,184,089 		JBrowse link
G TMCO5A transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,291,660...133,383,696
Ensembl chr 1:133,285,037...133,302,309 		JBrowse link
G TMED3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,431,629...48,442,247
Ensembl chr 7:48,431,375...48,442,645 		JBrowse link
G TMEM202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,853,877...60,865,688
Ensembl chr 7:60,854,316...60,885,284 		JBrowse link
G TMEM266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,311,510...56,440,650
Ensembl chr 7:56,311,548...56,440,328 		JBrowse link
G TMEM62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,269,590...128,306,128
Ensembl chr 1:128,269,599...128,306,056 		JBrowse link
G TMEM87A transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,098,388...129,142,168
Ensembl chr 1:129,098,388...129,142,161 		JBrowse link
G TMOD2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,956,583...120,009,372
Ensembl chr 1:119,956,588...120,009,372 		JBrowse link
G TMOD3 tropomodulin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,864,878...119,948,795
Ensembl chr 1:119,862,244...119,948,880 		JBrowse link
G TNFAIP8L3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,807,533...120,849,830
Ensembl chr 1:120,807,392...120,849,826 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,959,213...128,028,712 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,775,856...126,788,628
Ensembl chr 1:126,775,217...126,814,508 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,117...121,250,224 		JBrowse link
G TSPAN3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,162,080...57,187,515
Ensembl chr 7:57,159,465...57,187,446 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,029,393...128,084,039
Ensembl chr 1:128,029,406...128,083,958 		JBrowse link
G TYRO3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,811,540...129,829,395
Ensembl chr 1:129,811,544...129,829,014 		JBrowse link
G UACA uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,353,655...168,453,175
Ensembl chr 1:168,350,557...168,453,344 		JBrowse link
G UBAP1L ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,133,230...163,153,941
Ensembl chr 1:163,133,053...163,153,303 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,084,017...56,144,915
Ensembl chr 7:56,084,072...56,144,916 		JBrowse link
G UBL7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,070,666...59,084,119
Ensembl chr 7:59,070,728...59,084,112 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302 		JBrowse link
G ULK3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,699,989...58,707,191
Ensembl chr 7:58,699,984...58,707,187 		JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:117,163,115...117,765,125
Ensembl chr 1:117,166,300...117,723,335 		JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960 		JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,414,358...108,515,611
Ensembl chr 1:108,415,703...108,515,447 		JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,272,977...121,307,029
Ensembl chr 1:121,273,043...121,307,075 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,931,269...110,105,519
Ensembl chr 1:109,931,264...110,104,241 		JBrowse link
G VPS18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,409,121...130,420,467
Ensembl chr 1:130,409,123...130,420,450 		JBrowse link
G VPS39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,144,338...129,198,760
Ensembl chr 1:129,144,344...129,198,761 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146 		JBrowse link
G WDR76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,651,765...127,741,357
Ensembl chr 1:127,654,178...127,741,354 		JBrowse link
G WDR93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,264,240...55,316,396
Ensembl chr 7:55,264,275...55,316,397 		JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,108,867...52,140,333
Ensembl chr 7:52,108,869...52,140,203 		JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,967,402...49,034,711
Ensembl chr 7:48,967,579...49,034,703 		JBrowse link
G ZFYVE19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,510,718...130,517,943
Ensembl chr 1:130,510,719...130,517,216 		JBrowse link
G ZNF106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,893,965...128,957,334
Ensembl chr 1:128,893,971...128,957,305 		JBrowse link
G ZNF280D zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,220,018...115,345,930
Ensembl chr 1:115,220,050...115,345,923 		JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927 		JBrowse link
G ZNF609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,338,608...107,583,347
Ensembl chr 1:107,340,542...107,583,273 		JBrowse link
G ZNF710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:55,572,448...55,654,133
Ensembl chr 7:55,575,336...55,652,928 		JBrowse link
G ZNF770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,121,105...136,129,838
Ensembl chr 1:136,121,111...136,130,061 		JBrowse link
G ZNF774 zinc finger protein 774 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:52,985,669...52,994,797
Ensembl chr 7:52,958,106...53,129,958 		JBrowse link
G ZSCAN2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,910,839...52,958,007
Ensembl chr 7:52,910,849...52,957,983 		JBrowse link
G ZSCAN29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,084,065...128,097,517
Ensembl chr 1:128,084,050...128,097,517 		JBrowse link
G ZWILCH zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,481,784...164,526,843
Ensembl chr 1:164,481,964...164,527,223 		JBrowse link
CD3epsilon deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,613 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:47,474,566...47,621,034
Ensembl chr 9:47,475,805...47,618,361 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,706,534...45,717,036 		JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,640,389...44,665,863
Ensembl chr 9:44,640,394...44,665,835 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,525...46,174,589 		JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,548,175...46,550,146
Ensembl chr 9:46,548,131...46,550,172 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,230,395...46,239,433 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,670,857...44,752,477
Ensembl chr 9:44,670,874...44,752,469 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,785,142...45,153,256
Ensembl chr 9:44,785,701...45,147,140 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,808...46,220,078 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,182,396...45,218,249 JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:47,639,987...48,095,803
Ensembl chr 9:47,639,988...48,097,870 		JBrowse link
G H2AX H2A.X variant histone ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,879 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,505,907...45,534,863 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083 		JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,550,315...46,556,077 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,028...45,564,194 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983 		JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:47,344,916...47,363,768
Ensembl chr 9:47,345,165...47,362,998 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,513,114...44,534,312
Ensembl chr 9:44,513,461...44,536,432 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415 		JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:47,376,852...47,458,265
Ensembl chr 9:47,376,750...47,460,165 		JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,596,980...44,640,374
Ensembl chr 9:44,597,007...44,642,109 		JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,543,732...46,546,570
Ensembl chr 9:46,543,735...46,546,569 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,737...46,242,432 		JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,165...48,372,386 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,451,473...45,475,606 JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,543,648...44,559,717
Ensembl chr 9:44,543,701...44,559,715 		JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,223,227...44,471,689
Ensembl chr 9:44,223,232...44,513,831 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,282...46,254,031 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655 		JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,607,022...46,612,691
Ensembl chr 9:46,607,494...46,612,269 		JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:47,464,840...47,472,819
Ensembl chr 9:47,464,905...47,472,764 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,196...45,838,972 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:45,239,349...45,269,757
Ensembl chr 9:45,241,008...45,258,034 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,400,263...45,436,936
Ensembl chr 9:45,400,600...45,435,916 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,171...46,246,343 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341 		JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:47,256,314...47,284,104
Ensembl chr 9:47,256,317...47,284,006 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,661,106...45,704,810 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,512...46,202,735 		JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 9:46,563,469...46,590,392
Ensembl chr 9:46,563,482...46,590,392 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474 		JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163 		JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,120,915...18,124,519 JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr 3:18,345,691...18,351,508 JBrowse link
G C3H16orf92 chromosome 3 C16orf92 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,222,923...18,223,528 JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 OMIM
ClinVar		 PMID:2825199 PMID:9536098 PMID:14615364 PMID:16199547 PMID:17576681 More... NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730 		JBrowse link
G LRBA LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:16199547 PMID:22608502 PMID:25741868 PMID:26206937 PMID:26768763 More... NCBI chr 8:77,970,087...78,680,307
Ensembl chr 8:77,970,558...78,680,250 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,000...18,047,536 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:17823972 PMID:25073507 PMID:28492532 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,394...144,024,879 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:15643616 PMID:16281286 PMID:17113806 PMID:17957493 PMID:20549364 More... NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671 		JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837 		JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480 		JBrowse link
G RHOH ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:31,321,005...31,372,366
Ensembl chr 8:31,321,059...31,372,364 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,102...18,119,558 		JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr 3:18,346,501...18,349,509 JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,178,347...18,198,092
Ensembl chr 3:18,177,737...18,198,085 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,224,652...18,231,416
Ensembl chr 3:18,223,875...18,231,844 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,166,771...18,177,834
Ensembl chr 3:18,167,923...18,176,563 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,278,002...18,281,298 		JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868 		JBrowse link
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,842,855...11,871,040
Ensembl chr  X:11,842,855...11,868,793 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,800,546...11,828,251
Ensembl chr  X:11,799,636...11,828,000 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486 		JBrowse link
G BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,044,110...12,096,042
Ensembl chr  X:12,044,386...12,096,039 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia 		RGD
ClinVar		 PMID:9536098 PMID:11030417 PMID:11185744 PMID:11430722 PMID:12065746 More... RGD:734658 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		JBrowse link
G C1H14orf28 chromosome 1 C14orf28 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 1:175,145,918...175,156,597
Ensembl chr 1:175,145,913...175,156,606 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777 		JBrowse link
G CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,295,393...12,332,283
Ensembl chr  X:12,224,159...12,365,025 		JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165 		JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 6:332,239...339,130
Ensembl chr 6:332,242...339,142 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934 		JBrowse link
G CENPBD1 Putative CENPB DNA-binding domain-containing protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 6:139,644...146,306 JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:393,756...410,781 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420 		JBrowse link
G DBNDD1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 6:111,053...119,112
Ensembl chr 6:111,212...119,102 		JBrowse link
G DEF8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 6:140,854...160,936
Ensembl chr 6:140,908...160,692 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:361,187...385,757
Ensembl chr 6:361,197...376,616 		JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		RGD
ClinVar		 PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:6720839 More... RGD:11344914 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More... NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCC FA complementation group C onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		RGD
ClinVar		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11344914 NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:11239453 PMID:14695169 PMID:16199547 PMID:16280053 More... NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166 		JBrowse link
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 More... NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 1:175,317,558...175,332,705
Ensembl chr 1:175,317,559...175,332,987 		JBrowse link
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 1:174,732,612...174,734,834 JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134 		JBrowse link
G GAS8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 6:86,817...105,987
Ensembl chr 6:64,714...105,993 		JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,677,132...1,767,010 JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127 		JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 1:175,164,028...175,199,177
Ensembl chr 1:175,164,040...175,178,727 		JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187 		JBrowse link
G MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,409,157...11,473,969
Ensembl chr  X:11,409,107...11,473,964 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303 		JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,750...11,886,438 		JBrowse link
G PIR pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,934,157...12,034,629
Ensembl chr  X:11,934,163...12,033,746 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 1:175,285,219...175,317,245
Ensembl chr 1:175,285,270...175,317,298 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 More... NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995 		JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:410,923...413,396 JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247 		JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 6:328,534...331,334
Ensembl chr 6:326,746...331,740 		JBrowse link
G SPATA33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 6:341,276...351,987 JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr 6:211,480...246,109
Ensembl chr 6:211,487...243,561 		JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma 		CTD
RGD		 PMID:8438880 PMID:22628295 PMID:24021704 RGD:10450524 RGD:11049161 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,159 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226 		JBrowse link
G USP1 ubiquitin specific peptidase 1 ISO MouseDO NCBI chr 6:149,971,471...149,985,946
Ensembl chr 6:149,970,915...149,985,509 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
G VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 6:313,713...324,026
Ensembl chr 6:313,783...324,022 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096 		JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:332,239...339,130
Ensembl chr 6:332,242...339,142 		JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:393,756...410,781 JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:361,187...385,757
Ensembl chr 6:361,197...376,616 		JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A OMIM
ClinVar		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:6720839 More... NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532 More... NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:25927356 PMID:28492532 PMID:36622392 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 More... NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168 		JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:328,534...331,334
Ensembl chr 6:326,746...331,740 		JBrowse link
G SPATA33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:341,276...351,987 JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 6:313,713...324,026
Ensembl chr 6:313,783...324,022 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980 		JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B OMIM
ClinVar		 PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 More... NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310 		JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C OMIM
ClinVar		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801 		JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
Fanconi anemia complementation group D2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:16116423 PMID:17033622 PMID:21964575 PMID:25186627 PMID:25741868 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2 OMIM
ClinVar		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia complementation group F OMIM
ClinVar		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856 		JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G OMIM
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22237560 PMID:22778927 PMID:23524600 PMID:25488682 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group J ClinVar
OMIM		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847 		JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980 		JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:26467025 More... NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PALB2 partner and localizer of BRCA2 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group N OMIM
ClinVar		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834 		JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSF5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr12:34,696,231...34,744,536
Ensembl chr12:34,698,497...34,744,554 		JBrowse link
G MTMR4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr12:34,745,232...34,771,315
Ensembl chr12:34,745,236...34,771,167 		JBrowse link
G RAD51C RAD51 paralog C susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition OMIM
ClinVar		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016 		JBrowse link
G RNF43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378 		JBrowse link
G SEPTIN4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr12:34,772,776...34,785,176 JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr12:34,815,472...34,975,901
Ensembl chr12:34,815,476...34,912,766 		JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group P OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 More... NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168 		JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group Q OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136 		JBrowse link
Fanconi anemia complementation group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S ClinVar
OMIM		 PMID:1157798 PMID:1514655 PMID:2173504 PMID:2316185 PMID:2504116 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:25741868 NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409 		JBrowse link
G LGR6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr10:24,358,946...24,454,430
Ensembl chr10:24,359,774...24,454,428 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr10:24,454,492...24,459,085
Ensembl chr10:24,454,495...24,459,057 		JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group U OMIM
ClinVar		 PMID:11118202 PMID:16169065 PMID:19690184 PMID:21240073 PMID:22232082 More... NCBI chr18:4,808,428...4,834,281
Ensembl chr18:4,808,470...4,835,802 		JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group V | ClinVar Annotator: match by term: MAD2L2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27500492 PMID:28492532 NCBI chr 6:71,773,680...71,779,192
Ensembl chr 6:71,773,154...71,786,517 		JBrowse link
Fanconi anemia complementation group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFWD3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group W | ClinVar Annotator: match by term: RFWD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26474068 PMID:28492532 More... NCBI chr 6:12,952,243...12,994,053
Ensembl chr 6:12,952,253...12,994,052 		JBrowse link
hereditary nonpolyposis colorectal cancer type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPM2AIP1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: MLH1-related condition ClinVar PMID:28492532 NCBI chr13:21,877,863...21,886,210
Ensembl chr13:21,878,146...21,879,972 		JBrowse link
G LRRFIP2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar PMID:15951966 PMID:16619529 PMID:21785361 PMID:25741868 NCBI chr13:21,666,896...21,790,352
Ensembl chr13:21,670,424...21,793,043 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition OMIM
ClinVar		 PMID:212891 PMID:661956 PMID:1749856 PMID:1756143 PMID:1856120 More... NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar PMID:25741868 PMID:28492532 PMID:33357406 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
hereditary nonpolyposis colorectal cancer type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 ClinVar PMID:9311737 PMID:9718327 PMID:11208710 PMID:11524701 PMID:11601928 More... NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 ClinVar PMID:17531815 PMID:24323032 PMID:25741868 PMID:28492532 PMID:32849802 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: Lynch syndrome 4 OMIM
ClinVar		 PMID:187425 PMID:216319 PMID:285143 PMID:572224 PMID:663563 More... NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lynch syndrome 4 ClinVar PMID:7795591 PMID:12541220 PMID:14722923 PMID:15884040 PMID:16199547 More... NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
hereditary nonpolyposis colorectal cancer type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:9354786 PMID:10699937 PMID:11807791 PMID:12376507 PMID:14520694 More... NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:25741868 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 OMIM
ClinVar		 PMID:183784 PMID:183865 PMID:277857 PMID:551112 PMID:580251 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:17016615 PMID:20186688 PMID:22290698 PMID:25741868 PMID:25980754 More... NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:11709545 PMID:16917943 PMID:17204937 PMID:21118704 PMID:25741868 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
hereditary nonpolyposis colorectal cancer type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | ClinVar Annotator: match by term: Colon cancer, hereditary nonpolyposis, type 6 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 6 OMIM
ClinVar		 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9927040 PMID:10362519 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
hereditary nonpolyposis colorectal cancer type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:25927356 More... NCBI chr 7:97,893,182...97,940,932
Ensembl chr 7:97,875,220...97,940,876 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar PMID:25741868 NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462 		JBrowse link
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 OMIM
ClinVar		 PMID:16951683 PMID:19098912 PMID:21145788 PMID:21309036 PMID:23462293 More... NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653 		JBrowse link
immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
immunodeficiency 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMZ1 archaelysin family metallopeptidase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 3:1,964,095...1,993,168
Ensembl chr 3:1,963,896...1,994,169 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 More... NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355 		JBrowse link
G GNA12 G protein subunit alpha 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 3:2,002,494...2,105,937
Ensembl chr 3:2,004,471...2,105,952 		JBrowse link
G IQCE IQ motif containing E ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 3:1,861,487...1,903,107
Ensembl chr 3:1,861,204...1,903,035 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 3:1,721,044...1,819,426
Ensembl chr 3:1,810,892...1,820,048 		JBrowse link
G TTYH3 tweety family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr 3:1,826,284...1,853,522
Ensembl chr 3:1,826,293...1,853,493 		JBrowse link
immunodeficiency 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Immunodeficiency 121 with autoinflammation ClinVar
OMIM		 PMID:38503300 NCBI chr 6:28,544,910...28,547,609
Ensembl chr 6:28,543,972...28,548,152 		JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,751,609...10,985,191 		JBrowse link
G AP3M2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,167,118...11,190,857
Ensembl chr17:11,167,161...11,190,854 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,725,880...11,739,949
Ensembl chr17:11,725,880...11,739,747 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,687,646...11,714,357
Ensembl chr17:11,687,557...11,722,183 		JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,389,551...11,394,754
Ensembl chr17:11,390,206...11,394,436 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B OMIM
ClinVar		 PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,002,818...11,109,974 JBrowse link
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:8,644,388...8,665,004 JBrowse link
G PLAT plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032 		JBrowse link
G POLB DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821 		JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,957,615...11,978,919 JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581 		JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,549,907...11,566,898
Ensembl chr17:11,549,937...11,566,898 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,149...11,772,620 		JBrowse link
G VDAC3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr17:11,410,313...11,425,395
Ensembl chr17:11,410,472...11,425,382 		JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,613 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:47,474,566...47,621,034
Ensembl chr 9:47,475,805...47,618,361 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,706,534...45,717,036 		JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,640,389...44,665,863
Ensembl chr 9:44,640,394...44,665,835 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,525...46,174,589 		JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,548,175...46,550,146
Ensembl chr 9:46,548,131...46,550,172 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 OMIM
ClinVar		 PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,230,395...46,239,433 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,670,857...44,752,477
Ensembl chr 9:44,670,874...44,752,469 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,785,142...45,153,256
Ensembl chr 9:44,785,701...45,147,140 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,808...46,220,078 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,182,396...45,218,249 JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:47,639,987...48,095,803
Ensembl chr 9:47,639,988...48,097,870 		JBrowse link
G H2AX H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,879 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,505,907...45,534,863 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083 		JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,550,315...46,556,077 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,028...45,564,194 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983 		JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:47,344,916...47,363,768
Ensembl chr 9:47,345,165...47,362,998 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,513,114...44,534,312
Ensembl chr 9:44,513,461...44,536,432 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415 		JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:47,376,852...47,458,265
Ensembl chr 9:47,376,750...47,460,165 		JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,596,980...44,640,374
Ensembl chr 9:44,597,007...44,642,109 		JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,543,732...46,546,570
Ensembl chr 9:46,543,735...46,546,569 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,737...46,242,432 		JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,165...48,372,386 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,451,473...45,475,606 JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,543,648...44,559,717
Ensembl chr 9:44,543,701...44,559,715 		JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,223,227...44,471,689
Ensembl chr 9:44,223,232...44,513,831 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,282...46,254,031 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655 		JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,607,022...46,612,691
Ensembl chr 9:46,607,494...46,612,269 		JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:47,464,840...47,472,819
Ensembl chr 9:47,464,905...47,472,764 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,196...45,838,972 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,239,349...45,269,757
Ensembl chr 9:45,241,008...45,258,034 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,400,263...45,436,936
Ensembl chr 9:45,400,600...45,435,916 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,171...46,246,343 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341 		JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:47,256,314...47,284,104
Ensembl chr 9:47,256,317...47,284,006 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,661,106...45,704,810 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,512...46,202,735 		JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,563,469...46,590,392
Ensembl chr 9:46,563,482...46,590,392 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474 		JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency OMIM
ClinVar		 PMID:9325251 PMID:9536098 PMID:11904433 PMID:16199547 PMID:17576681 More... NCBI chr 6:88,719,886...88,745,922
Ensembl chr 6:88,719,881...88,745,914 		JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTPS1 CTP synthase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 More... NCBI chr 6:170,201,749...170,233,105
Ensembl chr 6:170,201,751...170,233,016 		JBrowse link
G SCMH1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 6:169,999,763...170,189,357
Ensembl chr 6:169,999,792...170,189,353 		JBrowse link
G SLFNL1 schlafen like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 6:170,189,882...170,199,128
Ensembl chr 6:170,194,822...170,199,630 		JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLXN calaxin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 4:79,375,487...79,387,110
Ensembl chr 4:79,378,796...79,389,520 		JBrowse link
G MCM4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 4:79,674,737...79,686,964
Ensembl chr 4:79,674,739...79,686,685 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: PRKDC-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 More... NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,375...79,846,656 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 4:79,264,880...79,268,475
Ensembl chr 4:79,264,880...79,268,475 		JBrowse link
G UBE2V2 ubiquitin conjugating enzyme E2 V2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr 4:79,621,343...79,652,502
Ensembl chr 4:79,621,349...79,652,471 		JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency OMIM
ClinVar		 PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 More... NCBI chr 3:56,515,446...56,541,806
Ensembl chr 3:56,515,449...56,541,740 		JBrowse link
immunodeficiency 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11B BCL11 transcription factor B ISO ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 OMIM
ClinVar		 PMID:25627829 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 More... NCBI chr 7:120,205,008...120,295,737
Ensembl chr 7:120,205,008...120,295,936 		JBrowse link
immunodeficiency 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: MCM4-related condition | ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16532402 PMID:17576681 PMID:22354167 More... NCBI chr 4:79,674,737...79,686,964
Ensembl chr 4:79,674,739...79,686,685 		JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667 		JBrowse link
G MORN3 MORN repeat containing 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr14:30,991,897...31,006,578
Ensembl chr14:30,991,897...31,006,577 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 9 OMIM
ClinVar		 PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 More... NCBI chr14:31,012,212...31,028,008
Ensembl chr14:31,011,644...31,027,993 		JBrowse link
G RHOF ras homolog family member F, filopodia associated ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr14:30,886,053...30,908,048
Ensembl chr14:30,896,114...30,908,419 		JBrowse link
G SETD1B SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr14:30,862,155...30,885,592
Ensembl chr14:30,862,158...30,885,260 		JBrowse link
G TMEM120B transmembrane protein 120B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar PMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532 NCBI chr14:30,901,813...30,957,350
Ensembl chr14:30,908,025...30,957,259 		JBrowse link
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXTL3 exostosin like glycosyltransferase 3 ISO ClinVar Annotator: match by term: EXTL3-related condition | ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 NCBI chr14:12,437,551...12,563,548
Ensembl chr14:12,437,515...12,563,544 		JBrowse link
Li-Fraumeni syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,683,230...52,698,746
Ensembl chr12:52,685,045...52,697,459 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993 		JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,259,867...53,281,127
Ensembl chr12:53,271,583...53,281,123 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635 		JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,410,833...53,426,165
Ensembl chr12:53,410,177...53,423,225 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207 		JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,139,366...53,163,243 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome
ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni 		ClinVar PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11479205 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,749,422...52,774,642
Ensembl chr12:52,749,473...52,758,488 		JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,612,517...52,628,376
Ensembl chr12:52,612,510...52,628,362 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,367...53,454,126 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:52,982,217...53,086,744
Ensembl chr12:52,992,843...53,086,744 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,581,687...52,590,266
Ensembl chr12:52,581,688...52,590,285 		JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:52,970,398...52,976,260
Ensembl chr12:52,970,285...52,976,257 		JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,868,479...52,874,248
Ensembl chr12:52,868,434...52,874,249 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,659,040...52,664,686 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,606,140...52,612,275
Ensembl chr12:52,606,293...52,612,266 		JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,742,090...52,749,331
Ensembl chr12:52,742,131...52,748,487 		JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,885,932...52,903,257
Ensembl chr12:52,882,870...52,903,450 		JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,596,130...52,598,166
Ensembl chr12:52,596,543...52,598,194 		JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,664,869...52,667,643
Ensembl chr12:52,664,875...52,667,610 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,334,350...53,339,336
Ensembl chr12:53,333,907...53,337,575 		JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,171,315...53,178,924
Ensembl chr12:53,171,319...53,180,823 		JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,698,155...52,700,965
Ensembl chr12:52,698,834...52,699,649 		JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,098,964...53,108,214 		JBrowse link
G LOC100521350 transmembrane protein 256-like ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr 1:73,130,766...73,131,276 JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,878,924...52,882,854
Ensembl chr12:52,878,764...52,882,863 		JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,111,249...53,112,487 JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,667,826...52,680,158
Ensembl chr12:52,667,831...52,680,189 		JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,517,175...53,525,458 JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,458,401...53,477,254 JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,590,801...52,595,208
Ensembl chr12:52,590,804...52,595,266 		JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,719,060...52,724,570
Ensembl chr12:52,719,064...52,724,982 		JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,779,833...52,806,210
Ensembl chr12:52,779,828...52,807,598 		JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,484,584...53,486,716
Ensembl chr12:53,485,265...53,486,713 		JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,163,996...53,166,418
Ensembl chr12:53,163,866...53,166,440 		JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,548,313...53,553,453
Ensembl chr12:53,548,321...53,553,455 		JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,911,725...52,913,314
Ensembl chr12:52,911,725...52,913,363 		JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,857,463...52,867,583
Ensembl chr12:52,765,187...52,867,576 		JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,914,711...52,919,092 JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,486,687...53,495,972
Ensembl chr12:53,485,626...53,495,972 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967 		JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,774,664...52,779,575 JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,882,840...52,885,785 JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,729,001...52,731,131
Ensembl chr12:52,728,826...52,730,822 		JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,738,942...52,749,326
Ensembl chr12:52,739,238...52,741,322 		JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,332...53,397,064 		JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,109,467...53,110,648
Ensembl chr12:53,109,621...53,110,644 		JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,701,119...52,704,121
Ensembl chr12:52,701,052...52,703,216 		JBrowse link
G TNFSF12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,843,026...52,853,328
Ensembl chr12:52,843,026...52,853,325 		JBrowse link
G TNFSF13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029 		JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,711,133...52,719,101
Ensembl chr12:52,711,921...52,719,096 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni ClinVar PMID:124622 PMID:224644 PMID:253702 PMID:960674 PMID:1200021 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,179,257...53,180,981 JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,378,407...53,382,243
Ensembl chr12:53,378,409...53,382,240 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni ClinVar PMID:9242456 PMID:9536098 PMID:10980596 PMID:17576681 PMID:17683073 More... NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364 		JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,635,383...52,642,443
Ensembl chr12:52,635,385...52,641,651 		JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr12:52,759,912...52,775,725 JBrowse link
Li-Fraumeni syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11479205 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar
OMIM		 PMID:124622 PMID:182969 PMID:224644 PMID:253702 PMID:960674 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364 		JBrowse link
Li-Fraumeni syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL OMIM
ClinVar		 PMID:914197 PMID:2936834 PMID:3313277 PMID:9536098 PMID:10617473 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
Li-Fraumeni-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Li-fraumeni-like syndrome ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENTREP2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome | ClinVar Annotator: match by term: NSMCE3-related condition ClinVar PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 PMID:33741030 NCBI chr 1:144,316,119...144,788,091
Ensembl chr 1:144,316,121...144,788,290 		JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome | ClinVar Annotator: match by term: NSMCE3-related condition OMIM
ClinVar		 PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 PMID:33741030 NCBI chr 1:144,469,617...144,474,026 JBrowse link
Lynch syndrome 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: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G ACVR2A activin A receptor type 2A ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr15:4,177,333...4,259,056
Ensembl chr15:4,173,805...4,259,706 		JBrowse link
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:18602922 PMID:18809606 PMID:20205264 PMID:21376568 PMID:24068316 More... NCBI chr 3:5,109,617...5,117,919
Ensembl chr 3:5,109,618...5,117,958 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G APRG1 APRG1 tumor suppressor candidate ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:14504054 PMID:15849733 PMID:16181381 PMID:20864636 PMID:21286667 More... NCBI chr13:22,260,983...22,269,030 JBrowse link
G ARHGEF33 Rho guanine nucleotide exchange factor 33 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,371,536...101,449,072
Ensembl chr 3:101,373,431...101,448,764 		JBrowse link
G ASTE1 asteroid homolog 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr13:1,435,714...1,457,733
Ensembl chr13:1,435,678...1,449,855 		JBrowse link
G ATL2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,957,189...102,029,120
Ensembl chr 3:101,957,209...102,029,667 		JBrowse link
G ATP6V1E2 ATPase H+ transporting V1 subunit E2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:94,012,252...94,078,475
Ensembl chr 3:94,032,773...94,033,453 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G CA12 carbonic anhydrase 12 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		JBrowse link
G CA2 carbonic anhydrase 2 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:increased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CALM2 calmodulin 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,371,765...93,386,378
Ensembl chr 3:93,372,045...93,386,218 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078 		JBrowse link
G CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:10037723 PMID:16338176 PMID:20533529 PMID:21618646 PMID:24440087 More... NCBI chr 3:5,201,228...5,228,594 JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153 		JBrowse link
G CDKL4 cyclin dependent kinase like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,087,156...101,138,839
Ensembl chr 3:101,089,243...101,151,518 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer ClinVar PMID:26467025 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G COX7A2L cytochrome c oxidase subunit 7A2 like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:97,951,115...97,983,309
Ensembl chr 3:97,951,114...97,983,309 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,911,425...93,925,916 JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G DHX57 DExH-box helicase 57 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,458,854...101,533,160
Ensembl chr 3:101,458,930...101,533,147 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:22661499 PMID:25326635 PMID:25741868 PMID:28492532 PMID:33146414 NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
G E2F4 E2F transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 6:27,834,356...27,841,419
Ensembl chr 6:27,834,411...27,841,416 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:21376568 PMID:24362816 PMID:28492532 NCBI chr 3:5,075,026...5,113,390
Ensembl chr 3:5,075,054...5,113,622 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462 		JBrowse link
G EML4 EMAP like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:98,005,809...98,155,876
Ensembl chr 3:98,005,812...98,155,846 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079 		JBrowse link
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:9536098 PMID:9843200 PMID:11830542 PMID:11857745 PMID:12373605 More... NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653 		JBrowse link
G EPM2AIP1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:12373605 PMID:12658575 PMID:14635101 PMID:14729822 PMID:15713769 More... NCBI chr13:21,877,863...21,886,210
Ensembl chr13:21,878,146...21,879,972 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:9354786 PMID:10699937 PMID:11807791 PMID:12376507 PMID:14520694 More... NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616 		JBrowse link
G GALM galactose mutarotase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,617,521...101,682,821
Ensembl chr 3:101,617,526...101,753,125 		JBrowse link
G GEMIN6 gem nuclear organelle associated protein 6 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,529,094...101,571,786
Ensembl chr 3:101,567,270...101,571,717 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:11528398 PMID:12177386 PMID:12473753 PMID:12473769 PMID:12497639 More... NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GOLGA4 golgin A4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:14504054 PMID:15849733 PMID:16181381 PMID:20864636 PMID:21286667 More... NCBI chr13:22,125,131...22,250,465
Ensembl chr13:22,125,121...22,250,463 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021 		JBrowse link
G HNRNPLL heterogeneous nuclear ribonucleoprotein L like ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:28492532 NCBI chr 3:101,753,330...101,795,356
Ensembl chr 3:101,753,292...101,802,062 		JBrowse link
G ITGA9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:14504054 PMID:15849733 PMID:16181381 PMID:20864636 PMID:21286667 More... NCBI chr13:22,298,497...22,655,717
Ensembl chr13:22,268,503...22,655,704 		JBrowse link
G KCNG3 potassium voltage-gated channel modifier subfamily G member 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:97,830,795...97,887,582
Ensembl chr 3:97,830,678...97,885,064 		JBrowse link
G KCNK12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:18269114 PMID:24323032 PMID:24362816 PMID:28135145 PMID:28492532 NCBI chr 3:92,990,129...93,044,989
Ensembl chr 3:92,990,021...93,041,533 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LINC02898 long intergenic non-protein coding RNA 2898 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:98,361,345...98,370,019 JBrowse link
G LOC100516852 radial spoke head 10 homolog B ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:10037723 PMID:16338176 PMID:20533529 PMID:21618646 PMID:24440087 More... NCBI chr 3:5,146,666...5,199,589 JBrowse link
G LOC102164585 solute carrier family 22 member 9-like ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 2:8,512,804...8,534,321 JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143 		JBrowse link
G LRRFIP2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:10422993 PMID:14504054 PMID:15849733 PMID:16181381 PMID:20864636 More... NCBI chr13:21,666,896...21,790,352
Ensembl chr13:21,670,424...21,793,043 		JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:100,887,148...101,084,667
Ensembl chr 3:100,887,143...101,084,677 		JBrowse link
G MARCKS myristoylated alanine rich protein kinase C substrate ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:79,789,796...79,795,895
Ensembl chr 1:79,789,815...79,795,760 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,620,921...93,633,018
Ensembl chr 3:93,620,936...93,633,015 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome 		ClinVar PMID:212891 PMID:1061282 PMID:1749856 PMID:1756143 PMID:1856120 More... NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MORN2 MORN repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,452,657...101,458,859
Ensembl chr 3:101,452,512...101,458,862 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
G MSH2 mutS homolog 2 onset ISO ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome 		RGD
ClinVar		 PMID:187139 PMID:261128 PMID:273149 PMID:439855 PMID:580563 More... RGD:11063948 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome 		ClinVar PMID:183784 PMID:183865 PMID:216699 PMID:277857 PMID:503524 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G MTA3 metastasis associated 1 family member 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:97,601,403...97,782,868
Ensembl chr 3:97,601,412...97,782,863 		JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr 6:84,225,670...84,228,156
Ensembl chr 6:84,225,694...84,228,481 		JBrowse link
G NUDC nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Lynch syndrome 		ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr 6:84,238,695...84,252,046
Ensembl chr 6:84,238,430...84,252,046 		JBrowse link
G OCM oncomodulin ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:10037723 PMID:16338176 PMID:20533529 PMID:21618646 PMID:24440087 More... NCBI chr 3:5,239,438...5,245,329 JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr15:94,359,784...94,377,331
Ensembl chr15:94,359,358...94,377,303 		JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,925,886...93,973,531
Ensembl chr 3:93,925,881...93,973,528 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:98,258,456...98,268,539
Ensembl chr 3:98,258,463...98,268,553 		JBrowse link
G PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,707,397...96,833,431
Ensembl chr 3:96,709,059...96,833,410 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome 		ClinVar PMID:187425 PMID:216319 PMID:285143 PMID:572224 PMID:663563 More... NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,237,660...96,317,278
Ensembl chr 3:96,221,873...96,317,247 		JBrowse link
G PREPL prolyl endopeptidase like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525 		JBrowse link
G PRKCE protein kinase C epsilon ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:94,351,277...94,864,549
Ensembl chr 3:94,349,889...94,866,306 		JBrowse link
G RHOQ ras homolog family member Q ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,970,545...94,012,660
Ensembl chr 3:93,973,653...94,012,580 		JBrowse link
G RMDN2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:102,210,367...102,307,355
Ensembl chr 3:102,215,140...102,424,775 		JBrowse link
G RNASEL ribonuclease L onset ISO DNA:substitution:cds:amino acid R462G RGD PMID:16054567 RGD:2292000 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398 		JBrowse link
G RNASET2 ribonuclease T2 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:2,146,707...2,164,768 JBrowse link
G RPS20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:75,762,209...75,763,449
Ensembl chr 4:75,762,209...75,769,955 		JBrowse link
G SIX2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:95,460,046...95,463,428
Ensembl chr 3:95,459,945...95,463,251 		JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,334...95,525,436 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:99,823,503...100,257,306
Ensembl chr 3:99,897,162...100,244,759 		JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357 		JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SOCS5 suppressor of cytokine signaling 5 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,777,402...93,925,859
Ensembl chr 3:93,783,964...93,925,863 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
G SRBD1 S1 RNA binding domain 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:94,909,053...95,133,939
Ensembl chr 3:94,909,127...95,138,915 		JBrowse link
G SRSF7 serine and arginine rich splicing factor 7 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:101,599,429...101,608,786
Ensembl chr 3:101,603,707...101,613,237 		JBrowse link
G STPG4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:28492532 PMID:30374176 NCBI chr 3:93,386,523...93,438,070
Ensembl chr 3:93,389,812...93,438,849 		JBrowse link
G TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 3:126,527,381...126,586,403
Ensembl chr 3:126,527,385...126,586,274 		JBrowse link
G TCF4 transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:104,718,809...105,079,919
Ensembl chr 1:104,719,151...105,079,919 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:25741868 PMID:28492532 PMID:28659821 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G THADA THADA armadillo repeat containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:96,872,178...97,197,051 JBrowse link
G THUMPD2 THUMP domain containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:100,557,168...100,597,664
Ensembl chr 3:100,557,016...100,597,671 		JBrowse link
G TMEM178A transmembrane protein 178A ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:100,613,878...100,887,023
Ensembl chr 3:100,613,881...100,669,651 		JBrowse link
G TMEM247 transmembrane protein 247 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:94,061,977...94,067,024
Ensembl chr 3:94,061,835...94,066,606 		JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome ClinVar PMID:9295267 PMID:9788728 PMID:10330339 PMID:20340139 PMID:25741868 More... NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404 		JBrowse link
G TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:12658575 PMID:15713769 PMID:16143124 PMID:24362816 PMID:28492532 NCBI chr13:21,913,400...22,023,165
Ensembl chr13:21,938,966...22,023,156 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:93,457,623...93,591,982
Ensembl chr 3:93,457,625...93,591,941 		JBrowse link
G ZFP36L2 ZFP36 ring finger protein like 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chr 3:97,200,395...97,203,094
Ensembl chr 3:97,200,407...97,204,698 		JBrowse link
Lynch syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 3:5,109,617...5,117,919
Ensembl chr 3:5,109,618...5,117,958 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 3:5,201,228...5,228,594 JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 3:5,075,026...5,113,390
Ensembl chr 3:5,075,054...5,113,622 		JBrowse link
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653 		JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 ClinVar PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More... NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616 		JBrowse link
G KCNK12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chr 3:92,990,129...93,044,989
Ensembl chr 3:92,990,021...93,041,533 		JBrowse link
G LOC100516852 radial spoke head 10 homolog B ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 3:5,146,666...5,199,589 JBrowse link
G LRRFIP2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:21785361 NCBI chr13:21,666,896...21,790,352
Ensembl chr13:21,670,424...21,793,043 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:661956 PMID:1749856 PMID:1756143 PMID:4063166 PMID:7557107 More... NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II OMIM
ClinVar		 PMID:187139 PMID:261128 PMID:273149 PMID:580563 PMID:625353 More... NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I
ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I 		ClinVar PMID:551112 PMID:580251 PMID:1548301 PMID:2059188 PMID:3049887 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:11818965 PMID:12606733 PMID:12917422 PMID:15931596 PMID:15987719 More... NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146 		JBrowse link
G OCM oncomodulin ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chr 3:5,239,438...5,245,329 JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome 1
ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I 		ClinVar PMID:2648339 PMID:7628019 PMID:7632227 PMID:7661930 PMID:7704024 More... NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		JBrowse link
G RAD51D RAD51 paralog D ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:21822267 PMID:25085752 PMID:25741868 PMID:26261251 PMID:26467025 More... NCBI chr12:40,075,259...40,151,034
Ensembl chr12:40,075,337...40,151,043 		JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT4 beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,643,049...29,644,847
Ensembl chr 7:29,643,182...29,648,604 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888 		JBrowse link
G CUTA cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,720,094...29,721,713
Ensembl chr 7:29,720,094...29,721,769 		JBrowse link
G DAXX death domain associated protein ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110 		JBrowse link
G HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:25,247,577...25,249,786
Ensembl chr 7:25,247,608...25,249,785 		JBrowse link
G KIFC1 kinesin family member C1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,692,775...29,713,716
Ensembl chr 7:29,694,778...29,713,712 		JBrowse link
G PFDN6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,653,569...29,654,957
Ensembl chr 7:29,653,679...29,654,945 		JBrowse link
G PHF1 PHD finger protein 1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,714,295...29,719,996
Ensembl chr 7:29,714,293...29,719,987 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:28492532 NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,461...25,062,245 		JBrowse link
G RGL2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,655,530...29,662,375
Ensembl chr 7:29,655,743...29,662,375 		JBrowse link
G RING1 ring finger protein 1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:25,251,507...25,255,526
Ensembl chr 7:25,251,486...25,255,522 		JBrowse link
G RPS18 ribosomal protein S18 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,638,856...29,642,912
Ensembl chr 7:29,638,833...29,642,912 		JBrowse link
G RXRB retinoid X receptor beta ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:25,236,005...25,242,842
Ensembl chr 7:25,236,004...25,242,875 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:25,242,862...25,247,407
Ensembl chr 7:25,242,604...25,247,408 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,723,745...29,752,351
Ensembl chr 7:29,723,588...29,753,933 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency OMIM
ClinVar		 PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 More... NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 More... NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922 		JBrowse link
G TAPBP TAP binding protein ISO ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency
ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency 		ClinVar PMID:9536098 PMID:12149238 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 7:29,663,491...29,673,453
Ensembl chr 7:29,663,495...29,673,634 		JBrowse link
G VPS52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,624,224...29,639,168
Ensembl chr 7:29,624,230...29,639,140 		JBrowse link
G WDR46 WD repeat domain 46 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,645,128...29,653,567
Ensembl chr 7:29,645,130...29,653,579 		JBrowse link
G ZBTB22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr 7:29,673,006...29,676,614
Ensembl chr 7:29,673,027...29,675,593 		JBrowse link
MHC CLASS I DEFICIENCY 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: MHC class I deficiency 2 | ClinVar Annotator: match by term: TAP2-related condition OMIM
ClinVar		 PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:24033266 More... NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922 		JBrowse link
MHC CLASS I DEFICIENCY 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBP TAP binding protein ISO ClinVar Annotator: match by term: MHC class I deficiency 3 ClinVar PMID:12149238 NCBI chr 7:29,663,491...29,673,453
Ensembl chr 7:29,663,495...29,673,634 		JBrowse link
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,736,639...94,748,093
Ensembl chr 4:94,736,646...94,748,098 		JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,823...98,589,180 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304 		JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:28492532 NCBI chr11:12,777,549...12,815,969
Ensembl chr11:12,777,552...12,816,008 		JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,849,114...98,869,095
Ensembl chr 4:98,849,196...98,869,098 		JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,224,436...98,243,957
Ensembl chr 4:98,229,449...98,242,718 		JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,817,574...98,821,255
Ensembl chr 4:98,817,586...98,821,254 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,449,268...95,453,663
Ensembl chr 4:95,450,150...95,453,256 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,297,532...94,484,994
Ensembl chr 4:94,297,616...94,484,990 		JBrowse link
G ATF7IP2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:32,523,462...32,598,946
Ensembl chr 3:32,523,463...32,598,855 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,426,545...95,449,193
Ensembl chr 4:95,427,943...95,449,188 		JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,808,968 		JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,184,038...98,193,522
Ensembl chr 4:98,183,540...98,193,242 		JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,367,372...97,369,598
Ensembl chr 4:97,368,453...97,369,514 		JBrowse link
G C4H1orf43 chromosome 4 C1orf43 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,520,003...95,530,856
Ensembl chr 4:95,519,992...95,530,846 		JBrowse link
G C4H1orf54 chromosome 4 C1orf54 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,806,352...98,814,627
Ensembl chr 4:98,805,588...98,814,563 		JBrowse link
G C4H1orf56 chromosome 4 C1orf56 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,181,069...98,183,333
Ensembl chr 4:98,180,367...98,183,464 		JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,821,577...98,828,934
Ensembl chr 4:98,821,579...98,828,736 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:33,834,347...33,847,941
Ensembl chr 3:33,838,488...33,847,938 		JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,733,967...93,753,340
Ensembl chr 4:93,733,918...93,753,340 		JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,171,937...98,180,577
Ensembl chr 4:98,164,024...98,180,576 		JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,513,563...97,535,426
Ensembl chr 4:97,514,224...97,528,481 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,250,773...98,260,504
Ensembl chr 4:98,250,964...98,260,427 		JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,531,141...95,534,752
Ensembl chr 4:95,530,994...95,535,407 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,704,805...97,730,498 JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037 		JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,996,030...96,006,511
Ensembl chr 4:95,994,263...96,005,585 		JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,800,849...98,809,573
Ensembl chr 4:98,800,931...98,804,739 		JBrowse link
G CIITA class II major histocompatibility complex transactivator severity ISO DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: BLS, TYPE II | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative 		RGD
ClinVar		 PMID:8402893 PMID:9099848 PMID:9536098 PMID:11466404 PMID:11704716 More... RGD:5491200 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780 		JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,815,769...94,819,583
Ensembl chr 4:94,815,771...94,819,597 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320 		JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,558,220...94,570,084
Ensembl chr 4:94,560,579...94,570,082 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155 		JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,716,530...95,723,959
Ensembl chr 4:95,716,537...95,722,947 		JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,933,221...96,938,980
Ensembl chr 4:96,933,287...96,939,662 		JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,734,228...95,745,630
Ensembl chr 4:95,734,299...95,745,629 		JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961 		JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223 		JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,748,430...94,768,322
Ensembl chr 4:94,748,429...94,768,452 		JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,768,533...94,781,482
Ensembl chr 4:94,768,500...94,780,214 		JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,745,878...95,762,192
Ensembl chr 4:95,748,140...95,761,519 		JBrowse link
G DEXI Dexi homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:32,160,222...32,173,024
Ensembl chr 3:32,160,742...32,161,029 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836 		JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,666,457...94,673,442
Ensembl chr 4:94,666,460...94,674,071 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,709,941...94,719,350
Ensembl chr 4:94,710,647...94,719,248 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,730,790...94,735,578
Ensembl chr 4:94,730,792...94,735,559 		JBrowse link
G EMP2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr 3:32,449,496...32,493,245
Ensembl chr 3:32,450,604...32,492,721 		JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,527,902...98,535,647
Ensembl chr 4:98,527,907...98,542,959 		JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,575,752...94,581,587
Ensembl chr 4:94,575,793...94,581,585 		JBrowse link
G EXOSC8 exosome component 8 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:28492532 NCBI chr11:12,817,081...12,825,847
Ensembl chr11:12,817,110...12,825,843 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,500,141...94,518,408 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,807,280...94,813,512
Ensembl chr 4:94,807,287...94,813,575 		JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,129,864...98,163,955
Ensembl chr 4:98,133,647...98,163,778 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,766,989...95,864,502
Ensembl chr 4:95,766,490...95,864,435 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,758,939...93,763,517
Ensembl chr 4:93,758,809...93,763,912 		JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,470,463...98,510,635
Ensembl chr 4:98,470,463...98,510,633 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,161,887...94,248,785 JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,486,365...93,492,837
Ensembl chr 4:93,486,380...93,494,829 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499 		JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,462,306...93,468,394
Ensembl chr 4:93,462,308...93,467,802 		JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:33,626,961...33,655,338
Ensembl chr 3:33,626,975...33,655,299 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,545,919...94,560,105
Ensembl chr 4:94,547,416...94,560,106 		JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,341,081...93,351,809
Ensembl chr 4:93,340,882...93,351,802 		JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,447,298...98,469,650
Ensembl chr 4:98,449,891...98,469,650 		JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,983,596...96,992,606 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,980,862...95,987,568
Ensembl chr 4:95,980,918...95,987,867 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,904,072...95,944,805
Ensembl chr 4:95,905,150...95,944,809 		JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,495,999...93,556,915
Ensembl chr 4:93,513,187...93,559,001 		JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,366,188...93,372,407
Ensembl chr 4:93,366,241...93,372,454 		JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,656,033...96,658,737
Ensembl chr 4:96,656,033...96,658,737 		JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,713,694...95,716,154
Ensembl chr 4:95,713,742...95,716,153 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,913,631...95,112,845
Ensembl chr 4:94,915,965...95,113,275 		JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,098,211...94,116,662
Ensembl chr 4:94,098,252...94,116,658 		JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,774,991...96,775,975
Ensembl chr 4:96,775,172...96,775,975 		JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,749,638...96,753,554 JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,643,300...94,646,436
Ensembl chr 4:94,642,942...94,646,436 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,972,112...93,975,561
Ensembl chr 4:93,971,871...93,976,304 		JBrowse link
G LCE1F late cornified envelope 1F ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,712,422...96,713,060 JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,362,045...96,363,961
Ensembl chr 4:96,362,160...96,362,477 		JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,805,409...94,807,175
Ensembl chr 4:94,806,595...94,806,780 		JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,399,660...97,415,720
Ensembl chr 4:97,400,876...97,406,471 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,482,605...31,576,211
Ensembl chr 3:31,482,353...31,579,082 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100152299 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,839,791...96,841,018 JBrowse link
G LOC106510158 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,819,489...96,820,514
Ensembl chr 4:96,819,538...96,819,828 		JBrowse link
G LOC106510159 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,828,768...96,829,266 JBrowse link
G LOC110255231 small proline-rich protein 2E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,557,801...96,559,486 JBrowse link
G LOC110260322 uncharacterized LOC110260322 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,992,602...96,997,794 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,303,835...96,308,016
Ensembl chr 4:96,304,070...96,305,110 		JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006 		JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,581,563...93,616,980
Ensembl chr 4:93,581,598...93,616,983 		JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,358,140...93,366,169
Ensembl chr 4:93,358,143...93,366,082 		JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640 		JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,218,616...98,231,356
Ensembl chr 4:98,218,742...98,234,332 		JBrowse link
G MIR9-1 microRNA mir-9-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,660,422...93,660,510 JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,165,990...98,171,674
Ensembl chr 4:98,164,676...98,171,674 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,352,997...93,357,805
Ensembl chr 4:93,353,111...93,357,796 		JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,448,160...97,462,523
Ensembl chr 4:97,448,169...97,463,131 		JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,780,329...98,795,223
Ensembl chr 4:98,780,334...98,794,821 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:99,115,174...99,122,809
Ensembl chr 4:99,115,133...99,122,808 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,606,576...94,611,439
Ensembl chr 4:94,606,562...94,611,865 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,493,234...93,495,912
Ensembl chr 4:93,490,537...93,496,396 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,247...93,421,893 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr 3:32,311,774...32,340,120
Ensembl chr 3:32,311,779...32,340,034 		JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,573,974...95,697,196
Ensembl chr 4:95,574,108...95,698,197 		JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,439,993...97,448,493
Ensembl chr 4:97,439,993...97,448,493 		JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:99,054,426...99,111,649
Ensembl chr 4:99,054,426...99,114,162 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,802,721...93,807,624
Ensembl chr 4:93,801,863...93,807,597 		JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,837,365...94,847,652
Ensembl chr 4:94,832,270...94,847,648 		JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,261,753...96,277,521
Ensembl chr 4:96,261,775...96,277,521 		JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,243,174...96,247,517
Ensembl chr 4:96,243,118...96,261,495 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931 		JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,924,115...98,934,610
Ensembl chr 4:98,923,996...98,934,189 		JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,810,863...93,836,786
Ensembl chr 4:93,810,507...93,837,652 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282 		JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,297,859...93,325,499
Ensembl chr 4:93,297,500...93,325,177 		JBrowse link
G PRM1 protamine 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,861,087...31,861,529
Ensembl chr 3:31,861,087...31,861,510 		JBrowse link
G PRM2 protamine 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,864,350...31,864,959
Ensembl chr 3:31,864,350...31,864,961 		JBrowse link
G PRM3 protamine 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,865,159...31,866,717 JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,745,263...98,771,724
Ensembl chr 4:98,745,269...98,785,807 		JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,349,627...96,351,402
Ensembl chr 4:96,350,453...96,350,803 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,194,138...98,218,862
Ensembl chr 4:98,194,139...98,216,932 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921 		JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688 		JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,705,093...95,709,942
Ensembl chr 4:95,705,220...95,711,729 		JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,961,136...93,970,742
Ensembl chr 4:93,961,148...93,970,712 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency 		ClinVar PMID:7744245 PMID:7990905 PMID:9401005 PMID:9536098 PMID:10079298 More... NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:7951244 PMID:8229525 PMID:9536098 PMID:9806546 PMID:10803838 More... NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
G RFXAP regulatory factor X associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 More... NCBI chr11:12,660,306...12,695,137 JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,694,259...93,708,055
Ensembl chr 4:93,694,266...93,707,865 		JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,496,058...97,507,714
Ensembl chr 4:97,495,819...97,507,684 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RMI2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,807,717...31,814,869
Ensembl chr 3:31,808,015...31,814,843 		JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,374,672...97,399,017
Ensembl chr 4:97,375,136...97,400,209 		JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,640,925...98,734,606
Ensembl chr 4:98,640,930...98,734,297 		JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,697,869...95,699,481
Ensembl chr 4:95,694,771...95,699,447 		JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,127,078...97,131,903 JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,489,202...94,499,993
Ensembl chr 4:94,489,207...94,499,256 		JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,083,974...94,085,095
Ensembl chr 4:94,082,826...94,088,224 		JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,007,026...96,012,305
Ensembl chr 4:96,007,028...96,012,310 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513 		JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,233,833...97,239,081
Ensembl chr 4:97,233,811...97,243,423 		JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,225,691...96,227,030
Ensembl chr 4:96,225,691...96,227,127 		JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,007,280...96,025,120 JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,027,746...96,029,878
Ensembl chr 4:96,027,639...96,029,869 		JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,030,930...96,038,602 JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,073,496...96,076,825
Ensembl chr 4:96,073,232...96,076,817 		JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,084,049...96,086,829
Ensembl chr 4:96,084,088...96,086,827 		JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156 		JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,093,204...96,096,870
Ensembl chr 4:96,094,147...96,096,870 		JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,098,264...96,099,686
Ensembl chr 4:96,098,525...96,099,684 		JBrowse link
G S100A7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,176,718...96,178,694 JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,209,670...96,210,603
Ensembl chr 4:96,209,659...96,210,602 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,236,114...96,238,989 JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,570,563...94,575,265
Ensembl chr 4:94,570,563...94,575,265 		JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301 		JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,865,054...93,892,995
Ensembl chr 4:93,865,057...93,886,371 		JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,107,316...98,121,464
Ensembl chr 4:98,107,360...98,122,347 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:99,123,564...99,129,218
Ensembl chr 4:99,123,585...99,129,218 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765 		JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,284,275...95,308,109
Ensembl chr 4:95,284,607...95,308,099 		JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,837,004...93,857,154
Ensembl chr 4:93,837,009...93,857,158 		JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,898,780...95,903,599
Ensembl chr 4:95,898,804...95,903,604 		JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,729,480...95,733,824
Ensembl chr 4:95,729,347...95,733,819 		JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,663,057...94,665,486
Ensembl chr 4:94,663,059...94,665,467 		JBrowse link
G SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:9118943 PMID:22390233 PMID:28492532 NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,368...12,763,008 		JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,671,907...96,676,426
Ensembl chr 4:96,671,907...96,676,426 		JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,770,329...93,801,808
Ensembl chr 4:93,770,378...93,800,650 		JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,987,524...95,989,527
Ensembl chr 4:95,984,358...95,989,474 		JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967 		JBrowse link
G SPRP small proline-rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:96,588,991...96,590,696
Ensembl chr 4:96,588,992...96,590,696 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,010,724...94,021,964
Ensembl chr 4:94,011,527...94,021,962 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,139,345...94,163,091
Ensembl chr 4:94,139,347...94,163,049 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,622,235...98,635,318
Ensembl chr 4:98,622,494...98,635,271 		JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,159,720...97,168,260 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,176,719...97,182,012
Ensembl chr 4:97,177,405...97,182,540 		JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,231,253...95,284,485
Ensembl chr 4:95,231,252...95,284,502 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,415,891...97,438,262
Ensembl chr 4:97,415,914...97,438,691 		JBrowse link
G TEKT5 tektin 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr 3:32,350,906...32,393,123
Ensembl chr 3:32,350,906...32,393,337 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,612,702...94,623,905
Ensembl chr 4:94,611,593...94,623,902 		JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,319,579...97,358,602
Ensembl chr 4:97,332,432...97,359,428 		JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:33,892,515...33,895,527
Ensembl chr 3:33,892,598...33,897,719 		JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,762,176...93,768,840
Ensembl chr 4:93,762,177...93,768,633 		JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343 		JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531 		JBrowse link
G TNP2 transition protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:27484032 PMID:28492532 NCBI chr 3:31,868,517...31,871,530
Ensembl chr 3:31,870,068...31,871,702 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,632,073...94,642,756
Ensembl chr 4:94,632,077...94,642,705 		JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,725,672...93,735,029
Ensembl chr 4:93,725,531...93,728,761 		JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,500,900...93,512,039
Ensembl chr 4:93,500,564...93,510,815 		JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592 		JBrowse link
G TVP23A trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532 NCBI chr 3:32,275,481...32,318,598
Ensembl chr 3:32,271,848...32,312,779 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,471,122...95,519,800
Ensembl chr 4:95,471,126...95,520,425 		JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:95,221,149...95,229,533
Ensembl chr 4:95,221,199...95,229,530 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:93,976,386...93,994,830
Ensembl chr 4:93,976,451...93,994,828 		JBrowse link
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 3:33,754,357...33,810,480
Ensembl chr 3:33,775,829...33,810,465 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,939,585...99,010,554
Ensembl chr 4:98,939,584...99,010,585 		JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059 		JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:94,780,404...94,796,722
Ensembl chr 4:94,780,408...94,796,657 		JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882 		JBrowse link
MHC CLASS II DEFICIENCY 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIITA class II major histocompatibility complex transactivator susceptibility ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency 1 ClinVar
OMIM		 PMID:8402893 PMID:9099848 PMID:11704716 PMID:11862382 PMID:24033266 More... NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A ClinVar NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A ClinVar PMID:7744245 PMID:9401005 PMID:10079298 PMID:16199547 PMID:25741868 More... NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: MHC class II deficiency 1 ClinVar PMID:7951244 PMID:8229525 PMID:9806546 PMID:10803838 PMID:16166641 More... NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
G RFXAP regulatory factor X associated protein ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A ClinVar PMID:25741868 PMID:28492532 NCBI chr11:12,660,306...12,695,137 JBrowse link
MHC CLASS II DEFICIENCY 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency 2 ClinVar
OMIM		 PMID:7951244 PMID:8229525 PMID:9536098 PMID:9806546 PMID:10725724 More... NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
MHC CLASS II DEFICIENCY 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: MHC class II deficiency 3 ClinVar
OMIM		 PMID:7744245 PMID:9401005 PMID:10079298 PMID:25741868 PMID:28492532 More... NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: MHC class II deficiency 3 ClinVar PMID:11313409 PMID:25741868 NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
MHC CLASS II DEFICIENCY 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFXAP regulatory factor X associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency 4 OMIM
ClinVar		 PMID:650344 PMID:7021490 PMID:7721350 PMID:9118943 PMID:9287230 More... NCBI chr11:12,660,306...12,695,137 JBrowse link
MHC CLASS II DEFICIENCY 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: MHC class II deficiency 5 ClinVar
OMIM		 PMID:7990905 PMID:12368908 PMID:28492532 NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHIT fragile histidine triad diadenosine triphosphatase ISO OMIM:158320 MouseDO NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome OMIM
ClinVar		 PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8521398 More... NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome OMIM
ClinVar		 PMID:6096739 PMID:7585065 PMID:7713503 PMID:8062247 PMID:8261515 More... NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
Nijmegen breakage syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DECR1 2,4-dienoyl-CoA reductase 1 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:28492532 NCBI chr 4:46,731,359...46,767,427
Ensembl chr 4:46,731,360...46,767,422 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ClinVar PMID:18414213 PMID:18628313 PMID:19894250 PMID:21228398 PMID:25326635 More... NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:18414213 PMID:25677497 PMID:25741868 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 | ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies | ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency | ClinVar Annotator: match by term: Seemanova syndrome 2 OMIM
ClinVar		 PMID:2625251 PMID:2952226 PMID:3802554 PMID:9523210 PMID:9536098 More... NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603 		JBrowse link
G OSGIN2 oxidative stress induced growth inhibitor family member 2 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:28492532 NCBI chr 4:46,886,961...46,912,941
Ensembl chr 4:46,886,968...46,912,255 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY OMIM
ClinVar		 PMID:1887849 PMID:9536098 PMID:10892749 PMID:14684699 PMID:15855896 More... NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189 		JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar		 PMID:11336668 PMID:12727634 PMID:21664875 PMID:25741868 PMID:25917813 More... NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia ClinVar PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Reticuloendotheliosis familial with eosinophilia | ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar		 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10701853 More... NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Reticuloendotheliosis familial with eosinophilia | ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar		 PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More... NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,547,644...24,558,403 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820 		JBrowse link
rapadilino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome OMIM
ClinVar		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
recombinase activating gene 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Recombinase activating gene 1 deficiency ClinVar PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 More... NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		JBrowse link
recombinase activating gene 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency ClinVar PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 More... NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,547,644...24,558,403 		JBrowse link
reticular dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Reticular dysgenesis OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19043416 PMID:19043417 More... NCBI chr 6:89,295,164...89,318,169 JBrowse link
Rothmund-Thomson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson ClinVar PMID:25741868 PMID:37055165 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson | ClinVar Annotator: match by term: Rothmund-Thomson syndrome ClinVar PMID:9536098 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
Rothmund-Thomson Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31303264 NCBI chr 3:44,483,961...44,605,035
Ensembl chr 3:44,509,680...44,605,014 		JBrowse link
Rothmund-Thomson Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 More... NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G AK2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:24033266 More... NCBI chr 6:89,295,164...89,318,169 JBrowse link
G CD247 CD247 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 4:83,494,266...83,586,887
Ensembl chr 4:83,494,395...83,586,647 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:8490660 PMID:15546002 PMID:25741868 PMID:28492532 PMID:33628209 NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:25741868 PMID:28492532 More... NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745 		JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396 		JBrowse link
G DCLRE1C DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe combined immunodeficiency disease 		RGD
ClinVar		 PMID:11336668 PMID:12406895 PMID:12727634 PMID:18223550 PMID:19953608 More... RGD:1601049 NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:14722525 PMID:19776401 PMID:25724123 PMID:27891178 PMID:28492532 More... NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25724123 PMID:27891178 PMID:29930340 PMID:30697212 PMID:32888943 NCBI chr 1:221,491,735...221,492,831 JBrowse link
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... NCBI chr 1:83,029,817...83,137,441
Ensembl chr 1:83,026,514...83,137,426 		JBrowse link
G EPO erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		JBrowse link
G FOXN1 forkhead box N1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 More... NCBI chr12:44,764,427...44,796,138
Ensembl chr12:44,765,258...44,795,260 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549 		JBrowse link
G IL2 interleukin 2 ISO mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:15661025 PMID:16492442 PMID:17201233 PMID:17827065 PMID:18403192 More... NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585 		JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr15:133,501,067...133,626,647
Ensembl chr15:133,501,092...133,626,644 		JBrowse link
G JAK3 Janus kinase 3 treatment ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease RGD
ClinVar		 PMID:7481768 PMID:9354668 PMID:9427607 PMID:9753072 PMID:10900158 More... RGD:11531109 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G KDM2B lysine demethylase 2B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr14:31,057,121...31,203,093
Ensembl chr14:31,165,950...31,203,091 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:27748010 NCBI chr 6:88,719,886...88,745,922
Ensembl chr 6:88,719,881...88,745,914 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:16585603 PMID:18845326 PMID:25741868 PMID:26151233 PMID:26762768 More... NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		JBrowse link
G MALT1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 1:162,076,933...162,144,915
Ensembl chr 1:162,076,955...162,144,880 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 3:93,620,921...93,633,018
Ensembl chr 3:93,620,936...93,633,015 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 PMID:25633902 More... NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 More... NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,194,042 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1245758 PMID:17548465 PMID:24033266 PMID:24589341 PMID:24698316 More... NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G PKIG cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1974554 PMID:2166947 PMID:3182793 PMID:8051429 PMID:9361033 More... NCBI chr17:46,933,418...47,044,044
Ensembl chr17:47,008,035...47,044,049 		JBrowse link
G PNP purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1384322 PMID:3029074 PMID:5503492 PMID:9067751 PMID:22132981 More... NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,447,012 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO Severe combined immunodeficiency disease, autosomal, PRKDC-related RGD
OMIA		 PMID:9122213 PMID:11489998 PMID:11867233 PMID:12033674 PMID:15017021 More... RGD:1599202 RGD:8696027 NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,375...79,846,656 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,014 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:290284 PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 More... NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:8617299 PMID:9630231 PMID:10635319 PMID:10777560 PMID:10891502 More... NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,547,644...24,558,403 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:7744245 PMID:9401005 PMID:10079298 PMID:16199547 PMID:25741868 More... NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:9806546 PMID:10803838 PMID:16166641 PMID:16199547 PMID:21908431 More... NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
G RFXAP regulatory factor X associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:12,660,306...12,695,137 JBrowse link
G STK4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr17:47,387,594...47,475,705
Ensembl chr17:47,387,600...47,475,718 		JBrowse link
G TAPBP TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr 7:29,663,491...29,673,453
Ensembl chr 7:29,663,495...29,673,634 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 3:93,457,623...93,591,982
Ensembl chr 3:93,457,625...93,591,941 		JBrowse link
G VDAC2 voltage dependent anion channel 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chr14:77,767,165...77,782,327
Ensembl chr14:77,766,686...77,782,321 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:11123350 PMID:20301777 PMID:25741868 PMID:28492532 PMID:33184721 More... NCBI chr 3:56,515,446...56,541,806
Ensembl chr 3:56,515,449...56,541,740 		JBrowse link
G ZBTB25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 7:88,531,955...88,575,535
Ensembl chr 7:88,531,929...88,575,658 		JBrowse link
severe combined immunodeficiency 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221 		JBrowse link
G CORO1A coronin 1A ISO OMIM:608971 MouseDO NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: Immunodeficiency 104 | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM
ClinVar		 PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 More... NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585 		JBrowse link
G JAK3 Janus kinase 3 ISO OMIM:608971 MouseDO NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 More... NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 More... NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,547,644...24,558,403 		JBrowse link
severe combined immunodeficiency 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRC protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: Immunodeficiency 105, severe combined OMIM
ClinVar		 PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 More... NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308 		JBrowse link
severe combined immunodeficiency 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 124, SEVERE COMBINED | ClinVar Annotator: match by term: NHEJ1 SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,194,042 		JBrowse link
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:25533962 PMID:25741868 PMID:28726809 PMID:32277047 PMID:33768696 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502 		JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Athabaskan severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial OMIM
ClinVar		 PMID:9536098 PMID:11336668 PMID:12055248 PMID:12406895 PMID:12569164 More... NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 PMID:37004747 NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:14744996 PMID:15071507 PMID:19912631 PMID:21664875 PMID:25741868 More... NCBI chr10:46,771,820...46,800,955
Ensembl chr10:46,786,841...46,800,323 		JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:46,874,606...46,900,058
Ensembl chr10:46,873,126...46,900,040 		JBrowse link
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, atypical ClinVar PMID:8124727 PMID:20301777 PMID:25741868 PMID:27448562 PMID:28492532 NCBI chr 3:56,515,446...56,541,806
Ensembl chr 3:56,515,449...56,541,740 		JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:1346349 PMID:2651461 PMID:2773932 PMID:3182793 PMID:3475710 More... NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation OMIA PMID:17998435 PMID:22903400 PMID:23514746 PMID:25454085 PMID:26320255 More... NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028 		JBrowse link
G IFTAP intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:25741868 NCBI chr 2:24,477,084...24,551,690
Ensembl chr 2:24,476,321...24,531,368 		JBrowse link
G INSL3 insulin like 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr 2:59,929,591...59,931,220
Ensembl chr 2:59,929,584...59,931,219 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 		ClinVar PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 More... NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO OMIM:601457 MouseDO NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,375...79,846,656 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 		OMIM
ClinVar		 PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851 		JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 		OMIM
ClinVar		 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 More... NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,547,644...24,558,403 		JBrowse link
G RPL18A ribosomal protein L18a ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr 2:59,892,788...59,906,242
Ensembl chr 2:59,890,796...59,897,024 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:25741868 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:25741868 NCBI chr 2:137,060,988...137,079,288
Ensembl chr 2:137,060,893...137,080,106 		JBrowse link
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSL3 insulin like 3 ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr 2:59,929,591...59,931,220
Ensembl chr 2:59,929,584...59,931,219 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: JAK3-related condition | ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type OMIM
ClinVar		 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 More... NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		JBrowse link
G RPL18A ribosomal protein L18a ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr 2:59,892,788...59,906,242
Ensembl chr 2:59,890,796...59,897,024 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type ClinVar PMID:28492532 NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266 		JBrowse link
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXN1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy OMIM
ClinVar		 PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 More... NCBI chr12:44,764,427...44,796,138
Ensembl chr12:44,765,258...44,795,260 		JBrowse link
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOT8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,039,627...48,054,335
Ensembl chr17:48,039,628...48,054,335 		JBrowse link
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G CCN5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,131,236...47,146,455
Ensembl chr17:47,131,501...47,146,449 		JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,448...48,089,971 		JBrowse link
G DBNDD2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,686,220...47,729,663
Ensembl chr17:47,725,132...47,729,668 		JBrowse link
G DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,994,658...48,017,568
Ensembl chr17:47,994,656...48,017,560 		JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982 		JBrowse link
G GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,709,260...46,733,275
Ensembl chr17:46,709,393...46,737,560 		JBrowse link
G GTSF1L gametocyte specific factor 1 like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,296,577...46,297,461
Ensembl chr17:46,296,577...46,297,461 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		JBrowse link
G IFT52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,590,302...46,665,326 JBrowse link
G KCNK15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,161,488...47,167,193
Ensembl chr17:47,160,774...47,166,382 		JBrowse link
G KCNS1 potassium voltage-gated channel modifier subfamily S member 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,483,943...47,491,071
Ensembl chr17:47,483,947...47,492,567 		JBrowse link
G LOC100512873 antileukoproteinase ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,579,081...47,581,861 JBrowse link
G LOC100513767 colostrum trypsin inhibitor-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,755,665...47,759,724 JBrowse link
G LOC100621271 WAP four-disulfide core domain protein 10A ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,899,971...47,901,404
Ensembl chr17:47,888,613...47,901,430 		JBrowse link
G LOC100739507 WAP four-disulfide core domain protein 5-like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,499,800...47,506,298
Ensembl chr17:47,499,935...47,506,306 		JBrowse link
G MATN4 matrilin 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,617,559...47,631,195
Ensembl chr17:47,617,620...47,630,458 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MYBL2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,256,245...46,287,929
Ensembl chr17:46,256,257...46,287,927 		JBrowse link
G NEURL2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,080,035...48,083,176
Ensembl chr17:48,080,048...48,084,027 		JBrowse link
G OSER1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,673,560...46,686,144
Ensembl chr17:46,673,562...46,686,082 		JBrowse link
G PABPC1L poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,321,259...47,351,905
Ensembl chr17:47,321,264...47,350,556 		JBrowse link
G PCIF1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,120,263...48,132,003
Ensembl chr17:48,120,599...48,132,620 		JBrowse link
G PI3 peptidase inhibitor 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,522,402...47,524,451 JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195 		JBrowse link
G PKIG cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,933,418...47,044,044
Ensembl chr17:47,008,035...47,044,049 		JBrowse link
G PLTP phospholipid transfer protein ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,089,789...48,101,604
Ensembl chr17:48,089,786...48,101,515 		JBrowse link
G PTI pancreatic trypsin inhibitor ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,773,060...47,780,746
Ensembl chr17:47,773,060...47,779,703 		JBrowse link
G R3HDML R3H domain containing like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,765,639...46,778,110
Ensembl chr17:46,766,401...46,777,329 		JBrowse link
G RBPJL recombination signal binding protein for immunoglobulin kappa J region like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,631,432...47,642,169
Ensembl chr17:47,628,313...47,641,459 		JBrowse link
G RIMS4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,167,302...47,235,237
Ensembl chr17:47,167,305...47,235,386 		JBrowse link
G SDC4 syndecan 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,650,387...47,670,499 JBrowse link
G SERINC3 serine incorporator 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,904,841...46,924,842
Ensembl chr17:46,895,402...46,924,792 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387 		JBrowse link
G SNX21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,033,608...48,039,633
Ensembl chr17:48,033,717...48,040,522 		JBrowse link
G SPATA25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,078,319...48,079,892
Ensembl chr17:48,077,667...48,079,619 		JBrowse link
G SPINT4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,960,786...47,963,417 JBrowse link
G STK4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22174160 PMID:22294732 More... NCBI chr17:47,387,594...47,475,705
Ensembl chr17:47,387,600...47,475,718 		JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,686,184...47,694,045
Ensembl chr17:47,686,258...47,694,034 		JBrowse link
G TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,025,621...48,026,762
Ensembl chr17:48,024,687...48,028,651 		JBrowse link
G TOMM34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,352,144...47,376,571
Ensembl chr17:47,352,160...47,376,503 		JBrowse link
G TOX2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,433,005...46,577,076
Ensembl chr17:46,433,025...46,577,072 		JBrowse link
G TP53TG5 TP53 target 5 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,699,323...47,705,974
Ensembl chr17:47,699,270...47,703,212 		JBrowse link
G TTPAL alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:46,884,881...46,906,827
Ensembl chr17:46,884,977...46,902,359 		JBrowse link
G UBE2C ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,018,403...48,021,542
Ensembl chr17:48,018,400...48,021,534 		JBrowse link
G WFDC11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,907,017...47,914,586
Ensembl chr17:47,909,744...47,915,395 		JBrowse link
G WFDC13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,916,541...47,921,851 JBrowse link
G WFDC2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,816,452...47,824,087
Ensembl chr17:47,816,452...47,824,087 		JBrowse link
G WFDC3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,976,078...47,994,744 JBrowse link
G WFDC8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,863,302...47,877,267
Ensembl chr17:47,862,615...47,876,464 		JBrowse link
G WFDC9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,891,173...47,898,219
Ensembl chr17:47,891,320...47,894,220 		JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:47,298,020...47,317,826
Ensembl chr17:47,298,044...47,319,285 		JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,132,531...48,153,251
Ensembl chr17:48,132,404...48,153,181 		JBrowse link
G ZSWIM1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,073,236...48,078,314
Ensembl chr17:48,074,402...48,077,702 		JBrowse link
G ZSWIM3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar PMID:22174160 PMID:28492532 NCBI chr17:48,054,479...48,073,109
Ensembl chr17:48,054,482...48,073,095 		JBrowse link
Werner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:19741171 RGD:10402544 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G LMNA lamin A/C ISO atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) RGD PMID:12927431 RGD:12791031 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Werner syndrome ClinVar PMID:25741868 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G PURG purine rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chr15:54,095,021...54,133,904
Ensembl chr15:54,094,639...54,100,680 		JBrowse link
G WRN WRN RecQ like helicase ISO ClinVar Annotator: match by term: Werner syndrome OMIM
ClinVar		 PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 More... NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,986...54,094,587 		JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXHXorf65 chromosome X CXorf65 homolog ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:8541866 PMID:8605324 PMID:9058718 PMID:10794430 PMID:11129345 More... NCBI chr  X:57,139,975...57,143,070
Ensembl chr  X:57,140,831...57,143,151 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency OMIM
ClinVar		 PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 More... NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,316,490...57,321,614
Ensembl chr  X:57,316,471...57,325,096 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,261,923...57,279,427
Ensembl chr  X:57,261,924...57,278,495 		JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum 		RGD
ClinVar		 PMID:8798680 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 RGD:1601050 NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 6:51,727,891...51,735,753
Ensembl chr 6:51,727,904...51,735,754 		JBrowse link
G POLH DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 7:38,569,211...38,601,794
Ensembl chr 7:38,567,788...38,601,790 		JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO MouseDO NCBI chr 6:17,605,748...17,631,795
Ensembl chr 6:17,605,763...17,631,721 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A OMIM
ClinVar		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group B OMIM
ClinVar		 PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:25741868 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C OMIM
ClinVar		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 6:51,727,891...51,735,753
Ensembl chr 6:51,727,904...51,735,754 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E OMIM
ClinVar		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G MIR365-1 microRNA mir-365-1 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,908,137...28,908,216
Ensembl chr 3:28,908,129...28,908,219 		JBrowse link
G MRTFB myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,964,758...29,240,125
Ensembl chr 3:28,968,215...29,167,637 		JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,616,808...28,802,506
Ensembl chr 3:28,612,269...28,802,504 		JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group G OMIM
ClinVar		 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLH DNA polymerase eta ISO ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type OMIM
ClinVar		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 7:38,569,211...38,601,794
Ensembl chr 7:38,567,788...38,601,790 		JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO OMIM:610965 MouseDO NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        DNA Repair-Deficiency Disorders 1355
          Bloom syndrome 457
          Fanconi anemia + 104
          Li-Fraumeni syndrome + 66
          Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
          Lynch syndrome + 110
          N syndrome 0
          Nijmegen Breakage Syndrome-Like Disorder 1
          Nijmegen breakage syndrome + 6
          Rothmund-Thomson syndrome + 3
          Werner syndrome + 5
          ataxia telangiectasia + 96
          immunodeficiency 54 1
          severe combined immunodeficiency + 507
          xeroderma pigmentosum + 19
paths to the root