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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

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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 chrNW_004955559:1,064,924...1,070,120 JBrowse link
G Recql4 RecQ like helicase 4 ISO RGD PMID:25859855 RGD:13207506 NCBI chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422 		JBrowse link
G Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO associated with gastric carcinoma;protein:decreased expression:stomach (human) RGD PMID:31922331 RGD:126848759 NCBI chrNW_004955420:24,594,057...24,729,108
Ensembl chrNW_004955420:24,593,830...24,729,108 		JBrowse link
G Wrn WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616805 NCBI chrNW_004955463:7,495,243...7,633,532
Ensembl chrNW_004955463:7,525,100...7,633,596 		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 chrNW_004955445:11,434,649...11,454,806
Ensembl chrNW_004955445:11,434,082...11,454,806 		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 chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443 		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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		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 chrNW_004955445:12,623,333...12,640,127
Ensembl chrNW_004955445:12,621,972...12,639,835 		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 chrNW_004955462:9,466,706...9,539,897
Ensembl chrNW_004955462:9,469,255...9,538,882 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		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 chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		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 chrNW_004955445:11,084,448...11,151,871
Ensembl chrNW_004955445:11,084,448...11,151,871 		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 chrNW_004955445:11,399,151...11,405,069
Ensembl chrNW_004955445:11,399,151...11,405,069 		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 chrNW_004955445:11,931,996...11,936,534
Ensembl chrNW_004955445:11,931,200...11,975,660 		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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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 chrNW_004955445:11,479,582...11,501,008
Ensembl chrNW_004955445:11,479,582...11,501,008 		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 chrNW_004955445:10,943,838...10,982,653
Ensembl chrNW_004955445:10,943,780...10,982,778 		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 chrNW_004955445:13,027,431...13,032,089 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 chrNW_004955445:13,045,864...13,097,447
Ensembl chrNW_004955445:13,045,864...13,072,974 		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 chrNW_004955445:13,487,498...13,488,284 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 chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		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 chrNW_004955445:13,542,726...13,580,204
Ensembl chrNW_004955445:13,543,804...13,580,204 		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 PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		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 chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		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 chrNW_004955445:12,604,456...12,610,502
Ensembl chrNW_004955445:12,605,208...12,610,458 		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 chrNW_004955445:12,293,394...12,299,741
Ensembl chrNW_004955445:12,293,394...12,299,787 		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 chrNW_004955445:12,027,626...12,040,589
Ensembl chrNW_004955445:12,029,882...12,040,335 		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 chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		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 chrNW_004955445:13,496,919...13,530,689
Ensembl chrNW_004955445:13,496,919...13,530,689 		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 chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133 		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 chrNW_004955445:11,219,630...11,251,856
Ensembl chrNW_004955445:11,219,630...11,251,856 		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 chrNW_004955445:11,405,195...11,407,819
Ensembl chrNW_004955445:11,405,195...11,407,819 		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 chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876 		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 chrNW_004955445:10,836,404...10,842,811
Ensembl chrNW_004955445:10,836,545...10,842,410 		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 chrNW_004955445:13,097,438...13,111,825
Ensembl chrNW_004955445:13,099,747...13,115,284 		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 chrNW_004955445:12,425,738...12,450,830
Ensembl chrNW_004955445:12,422,204...12,450,024 		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 chrNW_004955445:11,355,227...11,368,392
Ensembl chrNW_004955445:11,355,227...11,368,392 		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 chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820 		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 chrNW_004955445:12,717,962...12,818,734
Ensembl chrNW_004955445:12,717,962...12,818,734 		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 chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217 		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 chrNW_004955445:12,991,667...13,004,174
Ensembl chrNW_004955445:12,991,753...13,003,649 		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 chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		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 chrNW_004955445:12,017,500...12,029,507
Ensembl chrNW_004955445:12,017,500...12,029,507 		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 chrNW_004955445:12,542,824...12,604,355
Ensembl chrNW_004955445:12,542,818...12,604,355 		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 chrNW_004955445:11,990,916...12,009,178
Ensembl chrNW_004955445:11,990,792...12,011,553 		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 chrNW_004955445:12,837,616...12,868,631
Ensembl chrNW_004955445:12,837,586...12,865,758 		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 chrNW_004955445:11,252,732...11,290,890
Ensembl chrNW_004955445:11,252,732...11,291,501 		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 chrNW_004955445:10,755,336...10,829,797
Ensembl chrNW_004955445:10,755,312...10,831,900 		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 chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		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 chrNW_004955445:10,984,675...10,996,707
Ensembl chrNW_004955445:10,984,237...10,996,707 		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 chrNW_004955445:11,454,802...11,462,625
Ensembl chrNW_004955445:11,454,802...11,462,625 		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 chrNW_004955445:11,408,552...11,409,730
Ensembl chrNW_004955445:11,408,552...11,409,730 		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 chrNW_004955445:12,308,285...12,399,012
Ensembl chrNW_004955445:12,308,285...12,399,012 		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 chrNW_004955445:11,934,907...11,975,670
Ensembl chrNW_004955445:11,931,200...11,975,660 		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 chrNW_004955445:11,466,579...11,469,123
Ensembl chrNW_004955445:11,466,579...11,469,123 		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 chrNW_004955445:12,401,348...12,420,548
Ensembl chrNW_004955445:12,401,285...12,419,607 		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 chrNW_004955445:13,210,606...13,343,344
Ensembl chrNW_004955445:13,208,413...13,314,827 		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 chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		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 chrNW_004955445:11,958,649...11,962,623
Ensembl chrNW_004955445:11,958,625...11,962,508 		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 chrNW_004955445:12,871,355...12,897,733
Ensembl chrNW_004955445:12,871,355...12,897,733 		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 chrNW_004955445:11,474,826...11,479,479
Ensembl chrNW_004955445:11,469,063...11,478,759 		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 chrNW_004955445:11,723,634...11,730,304
Ensembl chrNW_004955445:11,721,674...11,730,302 		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 chrNW_004955445:11,501,044...11,512,109
Ensembl chrNW_004955445:11,502,918...11,512,143 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 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 chrNW_004955445:12,279,799...12,284,819
Ensembl chrNW_004955445:12,279,799...12,283,506 		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 chrNW_004955445:11,666,987...11,682,180 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 chrNW_004955445:12,451,644...12,474,251
Ensembl chrNW_004955445:12,448,760...12,474,251 		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 chrNW_004955445:11,334,742...11,354,584
Ensembl chrNW_004955445:11,335,908...11,354,300 		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 chrNW_004955445:11,411,540...11,415,074
Ensembl chrNW_004955445:11,410,660...11,434,280 		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 chrNW_004955445:11,416,346...11,434,298
Ensembl chrNW_004955445:11,416,346...11,434,298 		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 chrNW_004955412:8,723,828...8,747,684
Ensembl chrNW_004955412:8,723,828...8,748,701 		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 chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806 		JBrowse link
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:25741868 PMID:27884168 PMID:28492532 NCBI chrNW_004955454:5,341,822...5,355,383 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 chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		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 chrNW_004955412:9,875,905...9,923,728 JBrowse link
G Amotl1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:113,570...275,921
Ensembl chrNW_004955605:113,570...245,932 		JBrowse link
G Angptl5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,236,268...5,254,866 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 chrNW_004955412:12,433,350...12,515,922
Ensembl chrNW_004955412:12,430,064...12,515,925 		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 chrNW_004955412:4,367,369...4,601,653
Ensembl chrNW_004955412:4,367,369...4,594,888 		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 chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chrNW_004955437:2,036,415...2,041,997
Ensembl chrNW_004955437:2,036,415...2,041,997 		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 chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244 		JBrowse link
G Bik BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chrNW_004955413:28,277,727...28,294,032 JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114 		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 chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410 		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 chrNW_004955494:2,567,238...2,712,708 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 chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882 		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 chrNW_004955412:1,178,695...1,208,883
Ensembl chrNW_004955412:1,174,945...1,205,326 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,262,018...5,319,275
Ensembl chrNW_004955412:5,262,018...5,318,665 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:638,718...693,837 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 chrNW_004955412:5,368,983...5,399,406
Ensembl chrNW_004955412:5,368,495...5,400,305 		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 chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:3,105,095...4,122,484
Ensembl chrNW_004955412:3,436,462...4,123,202 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,266,072...10,336,156
Ensembl chrNW_004955412:10,256,381...10,336,156 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar 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 PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612 		JBrowse link
G CUNH11orf87 chromosome unknown C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:11,447,935...11,455,153
Ensembl chrNW_004955412:11,448,134...11,455,153 		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 chrNW_004955605:32,721...42,981
Ensembl chrNW_004955605:32,721...46,182 		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 chrNW_004955412:9,758,751...9,861,019
Ensembl chrNW_004955412:9,766,910...9,861,027 		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 chrNW_004955412:6,185,858...6,217,935
Ensembl chrNW_004955412:6,185,858...6,217,935 		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 chrNW_004955412:6,980,778...6,982,453
Ensembl chrNW_004955412:6,981,036...6,982,346 		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 chrNW_004955412:10,747,642...11,008,039
Ensembl chrNW_004955412:10,747,464...11,008,168 		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 chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		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 chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		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 chrNW_004955412:9,975,110...10,013,932
Ensembl chrNW_004955412:9,948,157...10,013,932 		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 chrNW_004955412:61,280...65,352 JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749 		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 chrNW_004955412:617,089...664,452
Ensembl chrNW_004955412:644,379...665,017 		JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:12,280,900...12,312,930
Ensembl chrNW_004955412:12,286,408...12,316,707 		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 chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395 		JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:397,721...398,470 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 chrNW_004955412:8,306,187...8,644,156
Ensembl chrNW_004955412:8,307,091...8,644,598 		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 chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		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 chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Jrkl JRK like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:1,209,524...1,212,911
Ensembl chrNW_004955412:1,209,788...1,211,362 		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 chrNW_004955412:8,703,075...8,723,628
Ensembl chrNW_004955412:8,703,075...8,713,929 		JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:7,585...32,650
Ensembl chrNW_004955605:8,977...10,539 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833 		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 chrNW_004955412:849,367...1,038,341
Ensembl chrNW_004955412:847,977...952,259 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,912,877...5,922,463
Ensembl chrNW_004955412:5,912,877...5,922,463 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012 		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 chrNW_004955412:8,654,182...8,666,254
Ensembl chrNW_004955412:8,652,193...8,666,347 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 PMID:33357406 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		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 chrNW_004955412:693,743...764,377
Ensembl chrNW_004955412:693,743...750,154 		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 chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047 		JBrowse link
G Npat nuclear protein, ataxia-telangiectasia locus ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chrNW_004955412:10,377,814...10,422,753
Ensembl chrNW_004955412:10,379,132...10,422,497 		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 chrNW_004955412:6,868,995...7,093,353
Ensembl chrNW_004955412:6,866,869...7,093,998 		JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:4,643,839...4,693,478 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 chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130 		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 chrNW_004955605:331,633...398,528 JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,582,169...10,598,153
Ensembl chrNW_004955412:10,579,511...10,598,153 		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 chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128 		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 chrNW_004955412:13,076,854...13,079,095 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 chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826 		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 chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585 		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 chrNW_004955412:10,224,074...10,240,270
Ensembl chrNW_004955412:10,224,074...10,240,270 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545 		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 chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932 		JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:100,335...125,395
Ensembl chrNW_004955412:107,861...125,944 		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 chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563 		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 chrNW_004955412:10,111,134...10,156,575
Ensembl chrNW_004955412:10,110,692...10,156,575 		JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,057,481...10,062,178 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 chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,690,988...5,741,109 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 chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		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 chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408 		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 chrNW_004955412:12,015,252...12,086,331
Ensembl chrNW_004955412:12,020,201...12,086,331 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		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 chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486 		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 chrNW_004955559:1,064,924...1,070,120 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 chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		JBrowse link
G CUNH11orf65 chromosome unknown 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 chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612 		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 chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		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 chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,495,651...11,543,276
Ensembl chrNW_004955416:11,495,651...11,543,405 		JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:525,313...581,006
Ensembl chrNW_004955450:529,999...577,621 		JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,818,153...13,132,960
Ensembl chrNW_004955416:12,820,138...13,131,826 		JBrowse link
G Adpgk ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,593,295...4,625,091
Ensembl chrNW_004955450:4,593,295...4,627,727 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,328,655...16,338,069
Ensembl chrNW_004955416:16,331,290...16,338,078 		JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,031,094...8,049,477 JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:17,885,757...18,686,124
Ensembl chrNW_004955416:18,130,605...18,686,108 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:19,006,206...19,327,523
Ensembl chrNW_004955416:19,009,485...19,247,626 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,279,831...14,322,836
Ensembl chrNW_004955416:14,277,866...14,322,838 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,630,303...10,651,918
Ensembl chrNW_004955450:10,630,868...10,648,940 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:311,863...320,185 JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,212,413...7,216,526
Ensembl chrNW_004955416:7,212,413...7,216,526 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,449,368...7,484,524 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,545,586...14,574,161
Ensembl chrNW_004955450:14,512,381...14,574,696 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,927,655...13,956,589
Ensembl chrNW_004955416:13,927,545...13,957,207 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,476,527...3,532,683 JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,000,682...12,022,183
Ensembl chrNW_004955450:12,000,424...12,022,071 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,253,706...16,346,602
Ensembl chrNW_004955450:16,253,571...16,302,657 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,214,990...2,304,924
Ensembl chrNW_004955416:2,215,490...2,304,726 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,272,820...3,318,820
Ensembl chrNW_004955450:3,271,387...3,319,103 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,683,118...4,737,793
Ensembl chrNW_004955450:4,683,118...4,737,994 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,279,866...11,429,365
Ensembl chrNW_004955416:11,308,846...11,429,365 		JBrowse link
G Arpp19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,354,988...2,369,846
Ensembl chrNW_004955409:2,354,988...2,369,846 		JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,261,169...2,345,489
Ensembl chrNW_004955409:2,289,589...2,344,832 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,148,110...4,383,309
Ensembl chrNW_004955409:4,183,493...4,381,356 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:690,440...712,391 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,376,794...7,388,577
Ensembl chrNW_004955416:7,361,847...7,388,647 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,624,634...4,668,470
Ensembl chrNW_004955450:4,631,266...4,662,719 		JBrowse link
G Bcl2a1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:773,912...785,040
Ensembl chrNW_004955533:773,912...785,037 		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 chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,048,654...7,068,917
Ensembl chrNW_004955416:7,052,290...7,068,910 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,428,760...13,440,837
Ensembl chrNW_004955416:13,428,760...13,440,921 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,157,411...15,180,069
Ensembl chrNW_004955450:15,157,226...15,180,069 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,621,343...13,657,276
Ensembl chrNW_004955416:13,621,118...13,657,581 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012 		JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,927,730...11,975,553
Ensembl chrNW_004955450:11,943,340...11,975,928 		JBrowse link
G Calml4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,886,565...7,894,143
Ensembl chrNW_004955450:7,887,414...7,894,143 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,070,479...9,121,099
Ensembl chrNW_004955416:9,070,399...9,117,794 		JBrowse link
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,925,106...3,940,566 JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,464,498...7,482,153
Ensembl chrNW_004955416:7,462,770...7,479,242 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,485,789...3,576,768
Ensembl chrNW_004955450:3,481,232...3,576,771 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,258,446...7,268,342
Ensembl chrNW_004955416:7,257,232...7,267,171 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,558,874...15,587,456
Ensembl chrNW_004955450:15,559,022...15,581,760 		JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,772,823...9,782,047
Ensembl chrNW_004955416:9,772,823...9,782,047 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:530,734...562,577
Ensembl chrNW_004955409:542,902...561,840 		JBrowse link
G Cd276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,884,437...3,896,416 JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,393,170...9,403,374
Ensembl chrNW_004955416:9,393,197...9,403,370 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:3,805,968...4,014,328
Ensembl chrNW_004955416:3,805,341...4,015,232 		JBrowse link
G Celf6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,822,125...4,853,572
Ensembl chrNW_004955450:4,822,125...4,855,238 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,562,047...11,699,925
Ensembl chrNW_004955416:11,613,316...11,699,925 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,121,332...5,210,729
Ensembl chrNW_004955409:5,122,325...5,210,733 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,833,610...11,844,452 JBrowse link
G Cgnl1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,785,358...16,913,718
Ensembl chrNW_004955450:16,785,080...16,871,515 		JBrowse link
G Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,828,917...7,831,368
Ensembl chrNW_004955416:7,828,482...7,832,391 		JBrowse link
G Chp1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,090,034...8,131,605
Ensembl chrNW_004955416:8,090,034...8,132,870 		JBrowse link
G Chrm5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:526,718...528,353
Ensembl chrNW_004955416:526,755...528,353 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:945,400...974,129
Ensembl chrNW_004955450:946,898...974,457 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,013,897...1,030,232
Ensembl chrNW_004955450:1,013,607...1,030,282 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,391,281...7,393,137
Ensembl chrNW_004955416:7,391,282...7,392,355 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,306,099...11,327,688
Ensembl chrNW_004955450:11,306,099...11,331,758 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634 		JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,231,082...10,244,632
Ensembl chrNW_004955450:10,232,641...10,245,945 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,614,377...2,617,064
Ensembl chrNW_004955450:2,614,261...2,617,324 		JBrowse link
G Clk3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,250,169...3,262,977
Ensembl chrNW_004955450:3,250,444...3,262,920 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,256,124...10,289,832
Ensembl chrNW_004955450:10,256,124...10,289,832 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,891,920...2,895,009
Ensembl chrNW_004955450:2,892,125...2,893,666 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,859,971...4,888,487
Ensembl chrNW_004955409:4,859,972...4,891,575 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,522,447...7,573,043
Ensembl chrNW_004955450:7,521,188...7,573,575 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,105,364...3,110,246
Ensembl chrNW_004955450:3,105,203...3,110,374 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:810,206...817,011
Ensembl chrNW_004955450:810,151...817,059 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,672,291...14,768,879
Ensembl chrNW_004955416:14,672,291...14,765,893 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,127,561...3,144,550
Ensembl chrNW_004955450:3,127,561...3,144,550 		JBrowse link
G Csnk1g1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,088,601...11,239,227
Ensembl chrNW_004955450:11,102,257...11,233,601 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,970,487...11,046,179
Ensembl chrNW_004955416:10,970,492...11,046,179 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,685,318...5,695,682
Ensembl chrNW_004955409:5,685,318...5,695,682 		JBrowse link
G CUNH15orf39 chromosome unknown C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,900,456...2,905,748
Ensembl chrNW_004955450:2,900,027...2,913,501 		JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,669,931...13,681,991
Ensembl chrNW_004955416:13,670,036...13,674,912 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,023,847...8,027,043
Ensembl chrNW_004955409:8,024,171...8,026,496 		JBrowse link
G CUNH15orf61 chromosome unknown C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,473,239...8,480,571
Ensembl chrNW_004955450:8,473,239...8,480,708 		JBrowse link
G CUNH15orf62 chromosome unknown C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,621,794...7,624,837
Ensembl chrNW_004955416:7,621,794...7,624,837 		JBrowse link
G Dapk2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,348,566...11,443,908
Ensembl chrNW_004955450:11,348,566...11,455,582 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,723,234...9,851,303
Ensembl chrNW_004955450:9,723,221...9,850,090 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,393,199...16,408,144
Ensembl chrNW_004955416:16,393,156...16,408,613 		JBrowse link
G Dis3l DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,279,323...9,313,402
Ensembl chrNW_004955450:9,279,323...9,314,507 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,282,048...7,297,896
Ensembl chrNW_004955416:7,282,048...7,299,179 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,934,755...3,089,572
Ensembl chrNW_004955409:2,934,740...3,089,703 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:498,450...523,067 JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:757,485...771,033
Ensembl chrNW_004955450:757,485...771,033 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,620,553...7,672,344
Ensembl chrNW_004955416:7,616,716...7,672,342 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,701,724...2,860,330
Ensembl chrNW_004955416:2,701,724...2,859,802 		JBrowse link
G Dpp8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,976,452...10,036,652
Ensembl chrNW_004955450:9,976,452...10,036,652 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,550,906...4,568,484
Ensembl chrNW_004955409:4,548,237...4,568,477 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,228,754...8,256,575
Ensembl chrNW_004955409:8,229,199...8,255,003 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,256,707...8,266,891
Ensembl chrNW_004955409:8,256,707...8,266,891 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,266,873...8,270,486
Ensembl chrNW_004955409:8,266,873...8,270,486 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,193,150...3,249,933
Ensembl chrNW_004955450:3,193,150...3,249,933 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,658,177...12,789,657
Ensembl chrNW_004955416:12,655,563...12,789,731 		JBrowse link
G Ehd4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,686,709...8,758,096
Ensembl chrNW_004955416:8,686,709...8,739,400 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,066,042...5,067,747
Ensembl chrNW_004955409:5,067,089...5,067,658 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,066,030...11,085,054
Ensembl chrNW_004955416:11,067,782...11,084,305 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,223,213...10,226,978
Ensembl chrNW_004955416:10,198,508...10,226,120 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:375,736...380,825
Ensembl chrNW_004955416:375,736...380,846 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:459,668...482,562
Ensembl chrNW_004955416:459,668...484,278 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,392,526...1,451,591
Ensembl chrNW_004955450:1,392,479...1,451,591 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,032,189...8,089,903 JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Fam219b family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,054,761...3,060,064
Ensembl chrNW_004955450:3,053,855...3,060,064 		JBrowse link
G Fam227b family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,568,562...4,769,010
Ensembl chrNW_004955409:4,586,362...4,770,684 		JBrowse link
G Fam81a family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,282,831...15,324,630
Ensembl chrNW_004955450:15,281,897...15,328,648 		JBrowse link
G Fam98b family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,457,232...5,486,744
Ensembl chrNW_004955416:5,457,274...5,487,042 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,719,678...11,728,093 JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,152,383...1,171,257
Ensembl chrNW_004955450:1,152,383...1,171,250 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,834,487...7,847,334
Ensembl chrNW_004955450:7,834,487...7,847,334 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,867,941...14,902,990 JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,338,061...10,683,069
Ensembl chrNW_004955416:10,338,061...10,682,810 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,864,050...13,898,693
Ensembl chrNW_004955416:13,852,756...13,896,841 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,507,177...6,710,526
Ensembl chrNW_004955416:6,509,477...6,717,115 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,915,031...14,947,634
Ensembl chrNW_004955416:14,936,546...14,949,252 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,983,857...4,036,433
Ensembl chrNW_004955409:4,004,480...4,039,681 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,751,764...4,852,395
Ensembl chrNW_004955409:4,751,764...4,860,584 		JBrowse link
G Ganc glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,990,852...9,063,840
Ensembl chrNW_004955416:8,990,852...9,063,826 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,617,333...7,620,455
Ensembl chrNW_004955416:7,617,333...7,620,455 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,204,502...15,211,747
Ensembl chrNW_004955450:15,204,915...15,206,234 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,098,922...15,102,499
Ensembl chrNW_004955416:15,098,922...15,102,499 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,104,985...2,134,937
Ensembl chrNW_004955416:2,104,985...2,134,937 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,149,721...7,226,835
Ensembl chrNW_004955450:7,149,721...7,227,524 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,128,718...3,179,083
Ensembl chrNW_004955409:3,128,684...3,179,083 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,621,144...2,642,298
Ensembl chrNW_004955409:2,619,718...2,641,308 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,812,414...10,949,563
Ensembl chrNW_004955416:10,812,722...10,947,505 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,735,790...6,879,078
Ensembl chrNW_004955416:6,735,636...6,878,982 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,936,357...4,960,643
Ensembl chrNW_004955450:4,954,223...4,960,280 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:1,812,725...1,825,528
Ensembl chrNW_004955416:1,812,676...1,826,271 		JBrowse link
G Gtf2a2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,181,824...15,195,594 JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,923,560...9,947,519
Ensembl chrNW_004955450:9,923,560...9,942,658 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,105,937...16,122,114
Ensembl chrNW_004955416:16,105,772...16,122,139 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,237,713...9,252,920
Ensembl chrNW_004955416:9,237,731...9,252,561 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,993,492...14,995,818
Ensembl chrNW_004955416:14,990,031...14,995,818 		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 chrNW_004955450:11,525,245...11,719,992
Ensembl chrNW_004955450:11,525,246...11,719,992 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,285,444...2,362,696
Ensembl chrNW_004955450:2,285,625...2,353,978 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,671,115...13,828,413
Ensembl chrNW_004955416:13,741,161...13,818,060 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:900,783...918,873
Ensembl chrNW_004955450:900,731...921,051 		JBrowse link
G Hypk huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,258,357...10,259,699
Ensembl chrNW_004955416:10,258,612...10,259,639 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,462,730...14,512,708 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586 		JBrowse link
G Igdcc3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,087,900...10,121,671
Ensembl chrNW_004955450:10,087,902...10,120,045 		JBrowse link
G Igdcc4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,057,064...10,083,484
Ensembl chrNW_004955450:10,057,066...10,081,186 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,876,317...11,987,548 JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,690,814...2,692,336 JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,870,521...8,020,862
Ensembl chrNW_004955416:7,870,258...7,961,812 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,857,563...3,867,905
Ensembl chrNW_004955450:3,857,563...3,867,898 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,892,476...9,925,231
Ensembl chrNW_004955450:9,892,296...9,925,231 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,496,190...8,694,810
Ensembl chrNW_004955450:8,495,931...8,694,636 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,558,628...14,652,031
Ensembl chrNW_004955416:14,560,292...14,650,036 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,305,534...16,321,596
Ensembl chrNW_004955416:16,311,499...16,321,102 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,471,586...1,475,702
Ensembl chrNW_004955450:1,470,864...1,475,965 		JBrowse link
G Islr immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,604,116...3,607,126 JBrowse link
G Islr2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,636,575...3,645,521
Ensembl chrNW_004955450:3,636,469...3,645,773 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,730,936...7,823,342
Ensembl chrNW_004955450:7,730,815...7,824,787 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,300,059...8,310,225
Ensembl chrNW_004955416:8,299,318...8,309,865 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,626,931...8,635,337
Ensembl chrNW_004955416:8,626,926...8,633,153 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:391,335...432,806
Ensembl chrNW_004955416:404,548...432,806 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,344,020...10,347,686
Ensembl chrNW_004955450:10,345,753...10,347,129 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,060,240...7,083,818
Ensembl chrNW_004955450:7,060,823...7,082,169 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G Klhl25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:18,965,966...18,991,099 JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,498,983...7,561,620
Ensembl chrNW_004955416:7,500,415...7,562,273 		JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,311,483...7,322,272
Ensembl chrNW_004955416:7,311,627...7,321,553 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,140,049...12,155,600
Ensembl chrNW_004955450:12,140,404...12,155,898 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,050,260...6,073,388
Ensembl chrNW_004955450:6,050,057...6,073,379 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,890,208...9,892,326 JBrowse link
G Lctl lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,127,151...9,139,836
Ensembl chrNW_004955450:9,127,174...9,139,211 		JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955439:4,954,208...4,956,660 JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,711,475...2,727,879
Ensembl chrNW_004955409:2,711,564...2,727,755 		JBrowse link
G Linc02915 long intergenic non-protein coding RNA 2915 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,178,585...6,178,974 JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,435,768...2,493,387
Ensembl chrNW_004955450:2,435,662...2,452,213 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
G Lman1l lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,111,004...3,123,266
Ensembl chrNW_004955450:3,110,952...3,123,131 		JBrowse link
G LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,036,387...3,049,121
Ensembl chrNW_004955450:3,035,815...3,051,507 		JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G LOC102023780 aromatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142 		JBrowse link
G LOC102024459 arpin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,340,070...15,399,017 JBrowse link
G Loxl1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,715,109...3,734,641
Ensembl chrNW_004955450:3,715,421...3,735,219 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:251,057...257,379
Ensembl chrNW_004955416:249,903...257,434 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,903,345...6,030,279
Ensembl chrNW_004955450:5,903,266...6,030,279 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,230,362...9,237,799
Ensembl chrNW_004955416:9,230,362...9,237,799 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,310,304...8,319,463 JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,862,478...2,874,017 JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,961,405...14,990,284 JBrowse link
G Man2c1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,872,577...2,882,743
Ensembl chrNW_004955450:2,872,580...2,882,743 		JBrowse link
G Map1a microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,052,964...10,073,318
Ensembl chrNW_004955416:10,053,010...10,071,421 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,181,851...9,205,277
Ensembl chrNW_004955450:9,181,851...9,239,648 		JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,207,577...8,458,258
Ensembl chrNW_004955450:8,203,569...8,458,258 		JBrowse link
G Mapda N6-Methyl-AMP deaminase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,892,422...9,913,877
Ensembl chrNW_004955416:9,898,339...9,913,427 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,664,017...2,676,538
Ensembl chrNW_004955409:2,663,569...2,676,544 		JBrowse link
G Mapkbp1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,570,684...8,626,748
Ensembl chrNW_004955416:8,571,044...8,626,748 		JBrowse link
G Megf11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,355,134...9,634,747
Ensembl chrNW_004955450:9,355,060...9,632,119 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:4,104,114...4,311,791
Ensembl chrNW_004955416:4,101,977...4,311,791 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,722,388...11,731,758
Ensembl chrNW_004955416:11,722,388...11,731,758 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,447,959...15,450,209 JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,595,887...12,599,455
Ensembl chrNW_004955416:12,595,774...12,599,563 		JBrowse link
G Mfap1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,263,729...10,273,403
Ensembl chrNW_004955416:10,263,729...10,274,188 		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 chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:408,285...443,217
Ensembl chrNW_004955533:408,225...443,248 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,753,892...15,808,205
Ensembl chrNW_004955450:15,753,892...15,808,205 		JBrowse link
G Mns1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,819,812...17,852,157
Ensembl chrNW_004955450:17,819,929...17,851,762 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:14,770...28,290
Ensembl chrNW_004955533:14,730...27,643 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,445,563...16,453,391
Ensembl chrNW_004955416:16,445,700...16,453,279 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,436,507...16,445,364
Ensembl chrNW_004955416:16,436,769...16,445,991 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:720,255...756,893
Ensembl chrNW_004955533:720,353...756,893 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,713,495...5,747,528
Ensembl chrNW_004955409:5,714,124...5,747,140 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,409,503...2,530,539
Ensembl chrNW_004955409:2,428,815...2,530,012 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,543,520...2,612,867
Ensembl chrNW_004955409:2,546,909...2,612,490 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,049,797...5,256,934
Ensembl chrNW_004955450:5,049,864...5,252,721 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,664,673...16,730,769
Ensembl chrNW_004955450:16,664,315...16,730,770 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,210,198...8,222,986
Ensembl chrNW_004955416:8,210,410...8,217,138 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:183,645...281,252
Ensembl chrNW_004955409:183,545...281,318 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,191,168...4,324,997
Ensembl chrNW_004955450:4,191,168...4,375,896 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,074,190...15,080,561
Ensembl chrNW_004955416:15,074,190...15,080,561 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,467,648...14,470,645
Ensembl chrNW_004955416:14,467,650...14,470,515 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:272,127...273,068
Ensembl chrNW_004955416:272,127...273,068 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,938,403...4,002,694
Ensembl chrNW_004955450:3,938,403...4,004,059 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,281,707...5,286,260
Ensembl chrNW_004955450:5,281,707...5,286,260 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,174,131...1,243,040
Ensembl chrNW_004955450:1,174,131...1,243,059 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chrNW_004955461:199,356...451,716
Ensembl chrNW_004955461:201,764...451,776 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,652,931...17,018,188
Ensembl chrNW_004955416:16,652,791...17,018,188 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,178,493...8,208,336
Ensembl chrNW_004955416:8,178,826...8,207,747 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:258,304...271,670
Ensembl chrNW_004955416:258,202...270,075 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,790,629...10,803,411
Ensembl chrNW_004955450:10,790,829...10,802,276 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,168,143...8,178,459
Ensembl chrNW_004955416:8,168,319...8,179,408 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,181,364...2,214,636
Ensembl chrNW_004955409:2,181,346...2,207,888 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,190,584...7,211,705
Ensembl chrNW_004955416:7,178,524...7,212,053 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,089,521...7,108,981
Ensembl chrNW_004955450:7,089,521...7,108,489 		JBrowse link
G Parp16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,157,731...10,177,939
Ensembl chrNW_004955450:10,157,731...10,178,803 		JBrowse link
G Parp6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,863,713...4,900,509
Ensembl chrNW_004955450:4,863,564...4,901,847 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,169,711...11,180,557
Ensembl chrNW_004955416:11,170,829...11,180,247 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,072,778...11,082,687
Ensembl chrNW_004955450:11,072,786...11,082,687 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,294,184...10,307,234
Ensembl chrNW_004955450:10,294,276...10,306,367 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,063,117...14,204,297
Ensembl chrNW_004955416:14,063,123...14,125,220 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Peak1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,000,823...2,285,023
Ensembl chrNW_004955450:2,005,957...2,068,764 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,527,925...15,537,497
Ensembl chrNW_004955416:15,527,941...15,534,424 		JBrowse link
G Pgbd4 piggyBac transposable element derived 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955496:1,861,479...1,869,071 JBrowse link
G Phgr1 proline, histidine and glycine rich 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,277,637...7,280,676 JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,896,741...7,991,045
Ensembl chrNW_004955450:7,896,741...7,991,027 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:523,414...530,630
Ensembl chrNW_004955409:523,414...526,391 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,722,570...10,729,852
Ensembl chrNW_004955450:10,722,016...10,727,565 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:562,575...577,082
Ensembl chrNW_004955409:562,688...577,082 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,633,249...8,643,219
Ensembl chrNW_004955416:8,634,184...8,642,833 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,841,645...8,860,381
Ensembl chrNW_004955416:8,841,954...8,860,353 		JBrowse link
G Pla2g4e phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,765,620...8,826,184
Ensembl chrNW_004955416:8,765,561...8,804,616 		JBrowse link
G Pla2g4f phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,876,560...8,889,764
Ensembl chrNW_004955416:8,873,356...8,889,940 		JBrowse link
G Plcb2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,221,326...7,240,743
Ensembl chrNW_004955416:7,218,417...7,240,739 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,692,305...10,714,031 JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,633,975...16,642,085
Ensembl chrNW_004955450:16,635,458...16,641,974 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,971,874...2,985,034
Ensembl chrNW_004955450:2,971,874...2,985,191 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,241,279...11,246,628
Ensembl chrNW_004955450:11,241,279...11,249,056 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,074,239...10,113,268
Ensembl chrNW_004955416:10,074,239...10,109,523 		JBrowse link
G Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,681,138...7,693,644
Ensembl chrNW_004955416:7,681,138...7,693,644 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,023,620...15,045,958
Ensembl chrNW_004955416:15,023,620...15,045,958 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:309,885...405,667
Ensembl chrNW_004955409:309,885...405,667 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:925,070...932,237
Ensembl chrNW_004955450:925,542...936,653 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185 		JBrowse link
G Ptpn9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,725,755...2,796,390
Ensembl chrNW_004955450:2,725,755...2,796,390 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:446,548...459,139 JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,638,761...9,656,291
Ensembl chrNW_004955450:9,638,761...9,656,603 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:588,725...621,874
Ensembl chrNW_004955409:588,254...621,874 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,026,784...12,095,332
Ensembl chrNW_004955450:12,026,784...12,095,422 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,686,997...13,691,792 JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:69,736...167,626
Ensembl chrNW_004955533:70,897...167,460 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,494,030...5,561,608
Ensembl chrNW_004955416:5,494,030...5,561,614 		JBrowse link
G Rasl12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,352,574...10,363,906
Ensembl chrNW_004955450:10,352,574...10,363,906 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,746,708...10,770,540
Ensembl chrNW_004955450:10,763,540...10,770,610 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,013,595...15,020,038
Ensembl chrNW_004955416:15,014,340...15,019,173 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,838,836...1,854,045
Ensembl chrNW_004955450:1,838,734...1,857,254 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,002,734...4,076,292
Ensembl chrNW_004955450:4,002,753...4,076,309 		JBrowse link
G Rfx7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:59,535...121,157
Ensembl chrNW_004955409:59,536...118,315 		JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,741,762...7,743,816
Ensembl chrNW_004955416:7,738,526...7,744,440 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,591,049...7,610,164
Ensembl chrNW_004955416:7,591,049...7,610,147 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,590,053...15,651,344
Ensembl chrNW_004955450:15,587,270...15,624,576 		JBrowse link
G Rora RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,262,199...14,434,611
Ensembl chrNW_004955450:14,262,190...14,425,233 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,322,239...8,348,331
Ensembl chrNW_004955416:8,317,814...8,349,007 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,170,372...9,175,224
Ensembl chrNW_004955450:9,169,648...9,176,604 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,053,378...7,055,858
Ensembl chrNW_004955450:7,053,378...7,055,858 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,026,257...3,027,683
Ensembl chrNW_004955450:3,026,502...3,027,065 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,039,596...14,042,908
Ensembl chrNW_004955416:14,039,596...14,042,908 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,122,948...12,126,167
Ensembl chrNW_004955450:12,122,921...12,128,101 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,482,226...7,485,654
Ensembl chrNW_004955416:7,482,269...7,487,840 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:622,561...632,776
Ensembl chrNW_004955409:622,561...632,776 		JBrowse link
G Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,237,439...8,293,802
Ensembl chrNW_004955416:8,237,439...8,293,802 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,789,683...12,811,159
Ensembl chrNW_004955416:12,789,776...12,810,019 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,070,944...3,095,168
Ensembl chrNW_004955450:3,070,683...3,095,168 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,986,522...3,009,655
Ensembl chrNW_004955450:2,986,468...3,009,774 		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 chrNW_004955450:1,479,983...1,821,681
Ensembl chrNW_004955450:1,480,287...1,812,082 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,876,355...2,907,363
Ensembl chrNW_004955409:2,875,017...2,907,363 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:1,867,848...1,914,505
Ensembl chrNW_004955416:1,866,997...1,914,640 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,421,985...14,459,233
Ensembl chrNW_004955416:14,421,988...14,459,233 		JBrowse link
G Secisbp2l SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,926,330...4,974,889
Ensembl chrNW_004955409:4,926,942...4,975,099 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,107,258...15,143,338
Ensembl chrNW_004955416:15,108,175...15,130,746 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:6,086,178...6,143,702
Ensembl chrNW_004955409:6,086,113...6,143,713 		JBrowse link
G Sema7a semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,401,732...3,424,547
Ensembl chrNW_004955450:3,401,777...3,423,363 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,978,767...5,001,678
Ensembl chrNW_004955450:4,978,767...5,001,678 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,251,533...10,252,429 JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,255,269...10,257,996 JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:650,339...660,567
Ensembl chrNW_004955450:650,339...660,567 		JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,151,288...13,297,878
Ensembl chrNW_004955416:13,150,021...13,297,878 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,000,209...5,111,352
Ensembl chrNW_004955409:5,046,900...5,115,621 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,219,295...8,227,877
Ensembl chrNW_004955409:8,201,663...8,227,921 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:771,646...788,895
Ensembl chrNW_004955450:770,750...789,485 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,184,843...8,195,626
Ensembl chrNW_004955450:8,185,523...8,193,777 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,850,170...9,881,172
Ensembl chrNW_004955450:9,856,718...9,881,172 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,747,624...5,768,122
Ensembl chrNW_004955409:5,747,624...5,768,122 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,077,685...4,112,828
Ensembl chrNW_004955409:4,077,149...4,112,828 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,226,411...14,267,962
Ensembl chrNW_004955416:14,226,278...14,268,350 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,145,723...8,175,256
Ensembl chrNW_004955409:8,144,304...8,175,360 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,963,454...7,991,600
Ensembl chrNW_004955409:7,963,454...7,995,027 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,691,472...15,748,123
Ensembl chrNW_004955450:15,691,463...15,736,709 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,191,123...9,225,103
Ensembl chrNW_004955416:9,190,623...9,225,103 		JBrowse link
G Snapc5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,176,462...9,197,592
Ensembl chrNW_004955450:9,176,462...9,197,592 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,701,496...2,720,971
Ensembl chrNW_004955450:2,691,617...2,722,150 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,266,712...11,306,014
Ensembl chrNW_004955450:11,266,712...11,305,930 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,246,817...11,248,870
Ensembl chrNW_004955450:11,246,817...11,248,874 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,669,993...2,682,503
Ensembl chrNW_004955450:2,669,993...2,682,503 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,305,819...8,333,733
Ensembl chrNW_004955409:8,303,602...8,333,869 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,355,144...7,370,413
Ensembl chrNW_004955450:7,355,082...7,370,735 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,424,394...10,455,680
Ensembl chrNW_004955450:10,424,394...10,457,804 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,642,113...3,670,779
Ensembl chrNW_004955409:3,645,555...3,670,551 		JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,288,779...5,376,861
Ensembl chrNW_004955416:5,288,262...5,377,036 		JBrowse link
G Sptbn5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,643,177...8,684,469 JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,831,698...7,857,249
Ensembl chrNW_004955409:7,831,636...7,877,562 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,006,240...7,009,569
Ensembl chrNW_004955416:7,006,240...7,009,965 		JBrowse link
G Stard5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,989,572...12,000,226
Ensembl chrNW_004955416:11,989,572...12,000,226 		JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,276,026...9,393,842 JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,694,197...3,701,812
Ensembl chrNW_004955450:3,693,864...3,701,291 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,139,420...10,141,906 JBrowse link
G Tbc1d21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,753,758...3,762,727
Ensembl chrNW_004955450:3,753,758...3,763,326 		JBrowse link
G Tbc1d2b TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:579,651...642,237
Ensembl chrNW_004955450:582,223...641,876 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,979,990...17,375,264
Ensembl chrNW_004955450:16,979,414...17,376,055 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,352,685...8,371,576
Ensembl chrNW_004955409:8,352,685...8,371,529 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,885,148...17,942,136
Ensembl chrNW_004955450:17,884,699...17,942,761 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,808,903...9,842,784
Ensembl chrNW_004955416:9,805,033...9,842,798 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,847,645...9,870,627
Ensembl chrNW_004955416:9,848,874...9,862,166 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,490,034...6,506,419
Ensembl chrNW_004955416:6,489,451...6,506,419 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,296,670...5,827,252
Ensembl chrNW_004955450:5,301,765...5,479,638 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,572,789...15,615,556
Ensembl chrNW_004955416:15,572,331...15,615,603 		JBrowse link
G Tipin TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,259,838...9,279,479
Ensembl chrNW_004955450:9,262,717...9,279,401 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,604,915...6,645,305
Ensembl chrNW_004955450:6,603,879...6,645,602 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,391,049...12,740,232
Ensembl chrNW_004955450:12,394,377...12,728,925 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,739,879...11,742,381
Ensembl chrNW_004955416:11,740,758...11,741,825 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,561,872...13,584,238
Ensembl chrNW_004955416:13,561,880...13,584,454 		JBrowse link
G Tmc3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,005,190...12,040,095
Ensembl chrNW_004955416:12,004,943...12,032,870 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,030,720...5,045,420
Ensembl chrNW_004955416:5,030,657...5,045,691 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:327,044...335,030 JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,282,535...1,384,088
Ensembl chrNW_004955450:1,332,928...1,384,110 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,731,871...9,772,738
Ensembl chrNW_004955416:9,737,616...9,772,738 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,938,758...8,990,800
Ensembl chrNW_004955416:8,937,110...8,990,800 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,801,173...2,842,717
Ensembl chrNW_004955409:2,808,543...2,842,844 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,427,332...3,451,809 JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,962,736...10,035,433
Ensembl chrNW_004955416:9,962,897...10,035,278 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,376,449...8,394,651
Ensembl chrNW_004955409:8,376,370...8,394,540 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,005,842...11,088,192
Ensembl chrNW_004955450:11,005,849...11,088,192 		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 chrNW_004955409:3,690,722...3,787,139
Ensembl chrNW_004955409:3,691,039...3,785,908 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,916,067...1,937,364
Ensembl chrNW_004955450:1,916,067...1,937,845 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,933,695...9,962,635
Ensembl chrNW_004955416:9,933,695...9,962,635 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,361,722...8,377,629
Ensembl chrNW_004955416:8,359,207...8,377,692 		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 chrNW_004955450:6,122,271...6,195,345
Ensembl chrNW_004955450:6,122,439...6,197,177 		JBrowse link
G Ubap1l ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,312,032...10,332,917
Ensembl chrNW_004955450:10,319,407...10,332,646 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,102,404...1,151,511
Ensembl chrNW_004955450:1,102,404...1,152,272 		JBrowse link
G Ubl7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,379,201...3,391,938
Ensembl chrNW_004955450:3,378,600...3,392,601 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,571,628...9,731,551
Ensembl chrNW_004955416:9,572,171...9,731,453 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,095,604...3,101,774
Ensembl chrNW_004955450:3,095,607...3,101,832 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:889,912...1,325,136
Ensembl chrNW_004955409:891,347...1,325,164 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,729,433...11,802,462
Ensembl chrNW_004955450:11,727,104...11,802,462 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,788,723...3,838,077
Ensembl chrNW_004955409:3,788,903...3,837,983 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,839,308...3,903,595
Ensembl chrNW_004955409:3,840,007...3,891,284 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,772,653...7,780,408
Ensembl chrNW_004955416:7,772,653...7,782,542 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,893,249...8,936,351
Ensembl chrNW_004955416:8,893,249...8,936,351 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,280,112...10,337,963
Ensembl chrNW_004955416:10,279,835...10,335,521 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,472,866...15,527,853
Ensembl chrNW_004955416:15,472,742...15,517,144 		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 chrNW_004955416:13,825,925...13,849,883
Ensembl chrNW_004955416:13,826,372...13,849,245 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:823,883...895,713
Ensembl chrNW_004955533:877,985...894,934 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,672,499...7,679,851
Ensembl chrNW_004955416:7,672,592...7,679,632 		JBrowse link
G Znf106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,118,812...9,183,583 JBrowse link
G Znf280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,596,940...17,681,746
Ensembl chrNW_004955450:17,604,832...17,679,801 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
G Znf609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,804,761...11,002,569
Ensembl chrNW_004955450:10,808,638...10,974,590 		JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,215,542...15,278,742 JBrowse link
G Znf770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,310,024...2,318,482
Ensembl chrNW_004955416:2,310,033...2,318,300 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,498,737...14,514,178
Ensembl chrNW_004955416:14,498,183...14,514,178 		JBrowse link
G Zscan29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,921,036...9,933,622
Ensembl chrNW_004955416:9,921,036...9,933,620 		JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,139,214...9,170,136
Ensembl chrNW_004955450:9,139,169...9,169,921 		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 chrNW_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		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 chrNW_004955412:19,718,534...19,750,340
Ensembl chrNW_004955412:19,718,132...19,753,361 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,344,671...21,497,951
Ensembl chrNW_004955412:21,355,575...21,497,951 		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 chrNW_004955412:19,555,736...19,563,094 JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362 		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 chrNW_004955412:20,029,988...20,059,057
Ensembl chrNW_004955412:20,029,988...20,059,057 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		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 chrNW_004955412:20,113,844...20,126,783
Ensembl chrNW_004955412:20,113,375...20,126,656 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,627,023...18,695,685
Ensembl chrNW_004955412:18,634,074...18,694,346 		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 chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629 		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 chrNW_004955412:19,854,785...19,889,422
Ensembl chrNW_004955412:19,854,785...19,889,426 		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 chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,708,444...19,022,538
Ensembl chrNW_004955412:18,708,993...19,022,523 		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 chrNW_004955412:20,096,633...20,108,344
Ensembl chrNW_004955412:20,087,575...20,109,060 		JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159 		JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:19,053,627...19,090,582
Ensembl chrNW_004955412:19,052,801...19,090,582 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,563,879...21,932,292
Ensembl chrNW_004955412:21,563,595...21,934,427 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456 		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 chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635 		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 chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		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 chrNW_004955412:19,697,995...19,710,965
Ensembl chrNW_004955412:19,697,995...19,711,665 		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 chrNW_004955412:19,182,536...19,197,083
Ensembl chrNW_004955412:19,182,029...19,193,971 		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 chrNW_004955412:19,363,501...19,402,213 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 chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527 		JBrowse link
G LOC102025775 histone H2AX ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		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 chrNW_004955412:19,422,532...19,434,596
Ensembl chrNW_004955412:19,422,537...19,434,596 		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 chrNW_004955412:19,402,064...19,420,431
Ensembl chrNW_004955412:19,402,064...19,420,431 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,235,927...21,251,100
Ensembl chrNW_004955412:21,235,927...21,251,182 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,471,621...18,494,082
Ensembl chrNW_004955412:18,474,199...18,494,082 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220 		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 chrNW_004955412:19,754,997...19,800,984
Ensembl chrNW_004955412:19,756,379...19,800,984 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,261,389...21,339,602
Ensembl chrNW_004955412:21,260,993...21,342,584 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,555,881...18,594,341
Ensembl chrNW_004955412:18,555,887...18,593,815 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,415,468...20,418,263
Ensembl chrNW_004955412:20,416,067...20,417,368 		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 chrNW_004955412:20,126,769...20,129,071
Ensembl chrNW_004955412:20,126,775...20,128,748 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870 		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 chrNW_004955412:19,341,008...19,353,563
Ensembl chrNW_004955412:19,340,947...19,354,062 		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 chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201 		JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,505,453...18,521,667
Ensembl chrNW_004955412:18,505,453...18,522,082 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,177,175...18,280,687
Ensembl chrNW_004955412:18,177,175...18,280,748 		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 chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285 		JBrowse link
G Tbcel tubulin folding cofactor E like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,969,521...22,044,348
Ensembl chrNW_004955412:21,968,964...22,045,813 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,480,284...20,484,958
Ensembl chrNW_004955412:20,480,284...20,484,958 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,344,464...21,350,675
Ensembl chrNW_004955412:21,344,261...21,352,074 		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 chrNW_004955412:19,690,048...19,695,258
Ensembl chrNW_004955412:19,690,048...19,695,258 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:19,111,391...19,139,391
Ensembl chrNW_004955412:19,111,759...19,139,390 		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 chrNW_004955412:19,258,955...19,292,766
Ensembl chrNW_004955412:19,258,949...19,292,829 		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 chrNW_004955412:20,129,154...20,133,043
Ensembl chrNW_004955412:20,129,154...20,133,043 		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 chrNW_004955412:19,801,153...19,815,394
Ensembl chrNW_004955412:19,801,376...19,814,305 		JBrowse link
G Trim29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:21,134,076...21,158,982
Ensembl chrNW_004955412:21,134,019...21,159,172 		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 chrNW_004955412:19,670,590...19,672,495 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 chrNW_004955412:19,517,182...19,551,503
Ensembl chrNW_004955412:19,516,691...19,553,773 		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 chrNW_004955412:20,086,991...20,089,062
Ensembl chrNW_004955412:20,084,801...20,089,289 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:20,435,778...20,461,898
Ensembl chrNW_004955412:20,433,302...20,457,493 		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 chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141 		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:18836449 PMID:25073507 PMID:28492532 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959 		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 chrNW_004955493:7,055,944...7,076,802
Ensembl chrNW_004955493:7,055,944...7,059,582 		JBrowse link
G Bola2b bolA family member 2B ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chrNW_004955493:6,812,208...6,812,932 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 chrNW_004955493:7,087,491...7,091,306
Ensembl chrNW_004955493:7,087,491...7,092,809 		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 chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485 		JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chrNW_004955493:6,940,226...6,941,290
Ensembl chrNW_004955493:6,940,226...6,941,290 		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 chrNW_004955493:6,948,089...6,953,835
Ensembl chrNW_004955493:6,947,512...6,953,835 		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 chrNW_004955493:6,876,943...6,883,716
Ensembl chrNW_004955493:6,877,486...6,883,698 		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 chrNW_004955493:6,964,576...6,967,234
Ensembl chrNW_004955493:6,964,598...6,967,016 		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 chrNW_004955493:6,953,945...6,963,910
Ensembl chrNW_004955493:6,949,534...6,964,366 		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 chrNW_004955493:7,039,027...7,055,798
Ensembl chrNW_004955493:7,038,698...7,055,798 		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 chrNW_004955493:7,155,307...7,173,576
Ensembl chrNW_004955493:7,154,728...7,173,516 		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 chrNW_004955471:5,052,535...5,649,696
Ensembl chrNW_004955471:5,053,487...5,649,476 		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 chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152 		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 chrNW_004955493:7,149,600...7,152,449 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:17823972 PMID:25073507 PMID:28492532 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557 		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 chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216 		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 chrNW_004955493:7,113,194...7,141,944
Ensembl chrNW_004955493:7,113,319...7,143,582 		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 chrNW_004955493:7,142,048...7,144,836
Ensembl chrNW_004955493:7,142,272...7,144,389 		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 chrNW_004955493:6,894,849...6,901,344
Ensembl chrNW_004955493:6,894,849...6,901,344 		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 chrNW_004955493:7,144,389...7,148,613 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 chrNW_004955443:7,227,751...7,269,984
Ensembl chrNW_004955443:7,227,751...7,264,821 		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 chrNW_004955493:7,059,865...7,080,524
Ensembl chrNW_004955493:7,059,865...7,081,038 		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 chrNW_004955493:6,797,913...6,800,555 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 chrNW_004955493:6,968,537...6,986,608
Ensembl chrNW_004955493:6,969,096...6,985,878 		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 chrNW_004955493:6,888,832...6,894,840
Ensembl chrNW_004955493:6,888,832...6,894,831 		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 chrNW_004955493:6,929,477...6,940,109
Ensembl chrNW_004955493:6,929,477...6,942,227 		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 chrNW_004955493:6,987,621...6,999,219
Ensembl chrNW_004955493:6,987,621...6,999,219 		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 chrNW_004955493:6,885,050...6,888,729
Ensembl chrNW_004955493:6,885,052...6,888,729 		JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133 		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 chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,837,487...2,876,220
Ensembl chrNW_004955541:2,837,448...2,876,316 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,921,230...3,033,612
Ensembl chrNW_004955541:2,919,631...2,961,445 		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 chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,351,754...2,370,650 JBrowse link
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,875,287...2,896,122
Ensembl chrNW_004955519:2,875,212...2,896,191 		JBrowse link
G Asb9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,902,802...2,941,358
Ensembl chrNW_004955519:2,902,802...2,941,433 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,169,303...2,256,779
Ensembl chrNW_004955541:2,169,303...2,256,779 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,638,081...2,689,601
Ensembl chrNW_004955519:2,638,081...2,689,650 		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 chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592 		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 chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,141,450...2,159,955
Ensembl chrNW_004955541:2,139,920...2,160,597 		JBrowse link
G Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,415,722...2,455,052
Ensembl chrNW_004955519:2,412,289...2,455,280 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,724,369...2,777,540
Ensembl chrNW_004955541:2,724,312...2,777,592 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,881,374...2,893,885
Ensembl chrNW_004955541:2,881,525...2,893,653 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,235,441...3,242,377
Ensembl chrNW_004955541:3,235,448...3,242,377 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,216,972...3,223,636
Ensembl chrNW_004955541:3,216,972...3,223,634 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,522,154...2,569,722
Ensembl chrNW_004955519:2,522,155...2,570,972 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,159,485...3,170,304
Ensembl chrNW_004955541:3,159,818...3,170,428 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,610,021...2,618,197 JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chrNW_004955541:3,462,667...3,465,769
Ensembl chrNW_004955541:3,463,773...3,470,293 		JBrowse link
G Def8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chrNW_004955541:3,412,534...3,424,010
Ensembl chrNW_004955541:3,412,484...3,424,869 		JBrowse link
G Dorip1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:17,014,194...17,023,953
Ensembl chrNW_004955409:17,012,125...17,024,784 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,204,421...3,215,514
Ensembl chrNW_004955541:3,204,055...3,215,565 		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 chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052 		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 chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814 		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 chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044 		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 chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045 		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 chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11001585 PMID:17308347 PMID:17924555 PMID:22778927 PMID:24728327 More... NCBI chrNW_004955437:3,369,127...3,382,072
Ensembl chrNW_004955437:3,369,042...3,382,783 		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 chrNW_004955476:3,067,491...3,069,637
Ensembl chrNW_004955476:3,067,689...3,068,728 		JBrowse link
G Fancg FA complementation group G 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:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		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 chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		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 chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		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 chrNW_004955409:16,751,658...16,809,352 JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:16,810,934...16,824,380
Ensembl chrNW_004955409:16,810,710...16,824,380 		JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002 		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 chrNW_004955409:17,433,213...17,435,957 JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chrNW_004955541:3,477,067...3,494,991
Ensembl chrNW_004955541:3,476,451...3,496,572 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,568,941...2,570,440
Ensembl chrNW_004955541:2,568,941...2,570,440 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,026,554...2,065,627
Ensembl chrNW_004955541:2,026,771...2,065,462 		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 chrNW_004955409:16,968,099...16,999,697
Ensembl chrNW_004955409:16,984,039...16,999,697 		JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:3,290,137...3,336,817
Ensembl chrNW_004955519:3,286,847...3,337,286 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821 		JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,718,076...2,720,322
Ensembl chrNW_004955541:2,718,076...2,720,322 		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 chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,698,207...2,813,201
Ensembl chrNW_004955519:2,698,172...2,813,206 		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 chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929 		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 chrNW_004955409:16,824,638...16,845,778
Ensembl chrNW_004955409:16,824,638...16,845,778 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		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 chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,604,197...2,607,969
Ensembl chrNW_004955541:2,605,096...2,608,866 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,149,438...3,152,210
Ensembl chrNW_004955541:3,149,438...3,152,210 		JBrowse link
G Slc22a31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,894,053...2,897,032
Ensembl chrNW_004955541:2,892,495...2,896,840 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310 		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 chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,593,530...2,599,105
Ensembl chrNW_004955541:2,593,351...2,599,175 		JBrowse link
G Spata2l spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,242,380...3,246,562
Ensembl chrNW_004955541:3,242,380...3,247,330 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,223,552...3,232,837 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 chrNW_004955541:3,341,705...3,359,646
Ensembl chrNW_004955541:3,341,702...3,361,320 		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 chrNW_004955541:3,362,665...3,387,506
Ensembl chrNW_004955541:3,362,666...3,387,854 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:8438880 PMID:22628295 PMID:24021704 RGD:10450524 RGD:11049161 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		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 chrNW_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,711,051...2,715,458
Ensembl chrNW_004955541:2,710,938...2,718,804 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISO MouseDO NCBI chrNW_004955423:27,236,242...27,254,064
Ensembl chrNW_004955423:27,237,003...27,251,892 		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 chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915 		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 chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,248,384...3,258,856
Ensembl chrNW_004955541:3,249,293...3,258,839 		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 chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,531,230...2,566,959
Ensembl chrNW_004955541:2,524,499...2,567,203 		JBrowse link
G Zfpm1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,461,690...2,495,614 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 chrNW_004955541:3,259,945...3,272,990
Ensembl chrNW_004955541:3,259,479...3,272,666 		JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,404,549...2,438,183 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 chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561 		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 chrNW_004955422:21,680,488...22,020,935 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 chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,235,441...3,242,377
Ensembl chrNW_004955541:3,235,448...3,242,377 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,216,972...3,223,636
Ensembl chrNW_004955541:3,216,972...3,223,634 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,159,485...3,170,304
Ensembl chrNW_004955541:3,159,818...3,170,428 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,204,421...3,215,514
Ensembl chrNW_004955541:3,204,055...3,215,565 		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 chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814 		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 chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044 		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 chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045 		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 chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130 		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 chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		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 chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		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 chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		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 chrNW_004955409:16,751,658...16,809,352 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 chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		JBrowse link
G Spata2l spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,242,380...3,246,562
Ensembl chrNW_004955541:3,242,380...3,247,330 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,223,552...3,232,837 JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,248,384...3,258,856
Ensembl chrNW_004955541:3,249,293...3,258,839 		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 chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348 		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 chrNW_004955541:3,259,945...3,272,990
Ensembl chrNW_004955541:3,259,479...3,272,666 		JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chrNW_004955541:2,404,549...2,438,183 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 chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814 		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 chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chrNW_004955435:17,173,975...17,179,986 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 chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044 		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 chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		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 DNA 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 chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592 		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 chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045 		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 chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		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 chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia complementation group E OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chrNW_004955437:3,369,127...3,382,072
Ensembl chrNW_004955437:3,369,042...3,382,783 		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 chrNW_004955476:3,067,491...3,069,637
Ensembl chrNW_004955476:3,067,689...3,068,728 		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 chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		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 chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		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 chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		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 DNA 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 chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592 		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 chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		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 chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348 		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 chrNW_004955409:16,751,658...16,809,352 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 chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781 		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 chrNW_004955451:4,564,576...4,601,868
Ensembl chrNW_004955451:4,563,770...4,599,720 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,531,966...4,557,528
Ensembl chrNW_004955451:4,532,295...4,558,225 		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 chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,604,985...4,680,762
Ensembl chrNW_004955451:4,604,985...4,680,762 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,505,318...4,530,387 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 chrNW_004955451:4,206,114...4,296,969
Ensembl chrNW_004955451:4,179,591...4,297,024 		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 chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		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 chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122 		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 chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628 		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 chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528 		JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822 		JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:25741868 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		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 chrNW_004955406:38,391,824...38,400,946
Ensembl chrNW_004955406:38,391,785...38,400,995 		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 chrNW_004955491:6,579,443...6,629,410
Ensembl chrNW_004955491:6,599,085...6,629,439 		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 chrNW_004955486:2,191,903...2,197,193
Ensembl chrNW_004955486:2,191,903...2,198,538 		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 chrNW_004955484:2,824,057...2,857,321
Ensembl chrNW_004955484:2,824,422...2,858,283 		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 chrNW_004955421:3,882,486...3,889,851
Ensembl chrNW_004955421:3,888,007...3,889,833 		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 chrNW_004955421:3,938,054...4,066,701
Ensembl chrNW_004955421:3,938,054...4,066,060 		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 chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526 		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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		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 chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576 		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 chrNW_004955441:14,471,283...14,495,508
Ensembl chrNW_004955441:14,471,283...14,553,916 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:25741868 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		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 chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		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 chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		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 chrNW_004955523:818,535...874,189
Ensembl chrNW_004955523:818,535...874,189 		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 chrNW_004955523:553,356...559,376
Ensembl chrNW_004955523:553,356...559,376 		JBrowse link
G Mlh3 mutL homolog 3 susceptibility ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar
OMIM		 PMID:9536098 PMID:11317354 PMID:11586295 PMID:12702580 PMID:12800209 More... NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410 		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 chrNW_004955441:14,155,084...14,167,584
Ensembl chrNW_004955441:14,155,082...14,169,161 		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 chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964 		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 chrNW_004955460:12,631,296...12,649,891
Ensembl chrNW_004955460:12,633,405...12,649,746 		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 chrNW_004955460:12,662,005...12,674,223
Ensembl chrNW_004955460:12,662,779...12,673,287 		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 chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041 		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 chrNW_004955460:12,534,210...12,628,090
Ensembl chrNW_004955460:12,534,168...12,622,537 		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 chrNW_004955460:12,676,649...12,724,613 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 chrNW_004955460:12,773,975...12,784,512
Ensembl chrNW_004955460:12,773,975...12,784,512 		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 chrNW_004955460:12,736,086...12,766,907
Ensembl chrNW_004955460:12,736,086...12,766,901 		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 chrNW_004955484:8,777,618...8,780,393
Ensembl chrNW_004955484:8,777,621...8,780,320 		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 chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:767,470...900,268
Ensembl chrNW_004955536:767,306...812,204 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:166,212...172,551
Ensembl chrNW_004955536:166,212...172,551 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:189,881...229,835
Ensembl chrNW_004955536:190,949...232,424 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321 		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 chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:542,179...595,198
Ensembl chrNW_004955536:540,836...595,198 		JBrowse link
G Pomk protein O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:380,062...384,608
Ensembl chrNW_004955536:377,517...387,978 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406 		JBrowse link
G Vdac3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chrNW_004955536:507,393...520,399
Ensembl chrNW_004955536:505,901...520,399 		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 chrNW_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		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 chrNW_004955412:19,718,534...19,750,340
Ensembl chrNW_004955412:19,718,132...19,753,361 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,344,671...21,497,951
Ensembl chrNW_004955412:21,355,575...21,497,951 		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 chrNW_004955412:19,555,736...19,563,094 JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362 		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 chrNW_004955412:20,029,988...20,059,057
Ensembl chrNW_004955412:20,029,988...20,059,057 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 OMIM
ClinVar		 PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		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 chrNW_004955412:20,113,844...20,126,783
Ensembl chrNW_004955412:20,113,375...20,126,656 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,627,023...18,695,685
Ensembl chrNW_004955412:18,634,074...18,694,346 		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 chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629 		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 chrNW_004955412:19,854,785...19,889,422
Ensembl chrNW_004955412:19,854,785...19,889,426 		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 chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,708,444...19,022,538
Ensembl chrNW_004955412:18,708,993...19,022,523 		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 chrNW_004955412:20,096,633...20,108,344
Ensembl chrNW_004955412:20,087,575...20,109,060 		JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159 		JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,053,627...19,090,582
Ensembl chrNW_004955412:19,052,801...19,090,582 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,563,879...21,932,292
Ensembl chrNW_004955412:21,563,595...21,934,427 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456 		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 chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635 		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 chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		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 chrNW_004955412:19,697,995...19,710,965
Ensembl chrNW_004955412:19,697,995...19,711,665 		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 chrNW_004955412:19,182,536...19,197,083
Ensembl chrNW_004955412:19,182,029...19,193,971 		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 chrNW_004955412:19,363,501...19,402,213 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 chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527 		JBrowse link
G LOC102025775 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		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 chrNW_004955412:19,422,532...19,434,596
Ensembl chrNW_004955412:19,422,537...19,434,596 		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 chrNW_004955412:19,402,064...19,420,431
Ensembl chrNW_004955412:19,402,064...19,420,431 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,235,927...21,251,100
Ensembl chrNW_004955412:21,235,927...21,251,182 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,471,621...18,494,082
Ensembl chrNW_004955412:18,474,199...18,494,082 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220 		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 chrNW_004955412:19,754,997...19,800,984
Ensembl chrNW_004955412:19,756,379...19,800,984 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,261,389...21,339,602
Ensembl chrNW_004955412:21,260,993...21,342,584 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,555,881...18,594,341
Ensembl chrNW_004955412:18,555,887...18,593,815 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,415,468...20,418,263
Ensembl chrNW_004955412:20,416,067...20,417,368 		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 chrNW_004955412:20,126,769...20,129,071
Ensembl chrNW_004955412:20,126,775...20,128,748 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870 		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 chrNW_004955412:19,341,008...19,353,563
Ensembl chrNW_004955412:19,340,947...19,354,062 		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 chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201 		JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,505,453...18,521,667
Ensembl chrNW_004955412:18,505,453...18,522,082 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,177,175...18,280,687
Ensembl chrNW_004955412:18,177,175...18,280,748 		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 chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285 		JBrowse link
G Tbcel tubulin folding cofactor E like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,969,521...22,044,348
Ensembl chrNW_004955412:21,968,964...22,045,813 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,480,284...20,484,958
Ensembl chrNW_004955412:20,480,284...20,484,958 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,344,464...21,350,675
Ensembl chrNW_004955412:21,344,261...21,352,074 		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 chrNW_004955412:19,690,048...19,695,258
Ensembl chrNW_004955412:19,690,048...19,695,258 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,111,391...19,139,391
Ensembl chrNW_004955412:19,111,759...19,139,390 		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 chrNW_004955412:19,258,955...19,292,766
Ensembl chrNW_004955412:19,258,949...19,292,829 		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 chrNW_004955412:20,129,154...20,133,043
Ensembl chrNW_004955412:20,129,154...20,133,043 		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 chrNW_004955412:19,801,153...19,815,394
Ensembl chrNW_004955412:19,801,376...19,814,305 		JBrowse link
G Trim29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:21,134,076...21,158,982
Ensembl chrNW_004955412:21,134,019...21,159,172 		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 chrNW_004955412:19,670,590...19,672,495 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 chrNW_004955412:19,517,182...19,551,503
Ensembl chrNW_004955412:19,516,691...19,553,773 		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 chrNW_004955412:20,086,991...20,089,062
Ensembl chrNW_004955412:20,084,801...20,089,289 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,435,778...20,461,898
Ensembl chrNW_004955412:20,433,302...20,457,493 		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 chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141 		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 chrNW_004955452:10,608,317...10,632,310
Ensembl chrNW_004955452:10,608,318...10,632,310 		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 chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254 		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 chrNW_004955537:819,209...971,297
Ensembl chrNW_004955537:824,828...937,324 		JBrowse link
G Slfnl1 schlafen like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chrNW_004955537:814,859...819,238
Ensembl chrNW_004955537:814,852...819,346 		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 chrNW_004955454:8,570,014...8,591,904
Ensembl chrNW_004955454:8,578,068...8,591,992 		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 chrNW_004955454:7,891,646...7,908,240
Ensembl chrNW_004955454:7,891,456...7,908,462 		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 chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867 		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 chrNW_004955454:8,759,860...8,763,603
Ensembl chrNW_004955454:8,758,636...8,764,427 		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 chrNW_004955454:7,951,876...7,998,686
Ensembl chrNW_004955454:7,951,876...7,998,686 		JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta-chain (TCR) associated protein kinase 70kDa 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 chrNW_004955470:4,379,260...4,397,851
Ensembl chrNW_004955470:4,386,311...4,396,419 		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 chrNW_004955438:20,562,345...20,637,662
Ensembl chrNW_004955438:20,564,449...20,637,103 		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 chrNW_004955454:7,891,646...7,908,240
Ensembl chrNW_004955454:7,891,456...7,908,462 		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 chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034 		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 chrNW_004955482:6,716,522...6,730,572
Ensembl chrNW_004955482:6,716,426...6,730,572 		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 chrNW_004955482:6,731,949...6,746,095
Ensembl chrNW_004955482:6,731,949...6,775,545 		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 chrNW_004955482:6,631,327...6,643,634
Ensembl chrNW_004955482:6,631,666...6,643,634 		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 chrNW_004955482:6,598,176...6,621,944
Ensembl chrNW_004955482:6,600,262...6,621,722 		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 chrNW_004955482:6,643,596...6,691,928
Ensembl chrNW_004955482:6,645,303...6,691,843 		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 chrNW_004955403:51,076,323...51,102,435
Ensembl chrNW_004955403:51,076,319...51,102,435 		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 chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356 		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 chrNW_004955467:9,568,455...9,583,279
Ensembl chrNW_004955467:9,563,933...9,583,273 		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 chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033 		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 chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964 		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 chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747 		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 chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743 		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 chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932 		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 chrNW_004955467:8,766,322...8,769,169 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 chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836 		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 chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718 		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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173 		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 chrNW_004955467:9,471,962...9,482,370
Ensembl chrNW_004955467:9,471,962...9,482,370 		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 chrNW_004955467:9,652,093...9,654,291
Ensembl chrNW_004955467:9,652,093...9,654,291 		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 chrNW_004955467:8,993,528...9,010,829
Ensembl chrNW_004955467:8,993,952...9,009,928 		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 chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chrNW_004955467:9,660,088...9,666,878
Ensembl chrNW_004955467:9,660,288...9,666,878 		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 chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		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 chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941 		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 chrNW_004955467:9,675,912...9,683,996
Ensembl chrNW_004955467:9,675,912...9,683,996 		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 chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940 		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 chrNW_004955467:9,344,629...9,351,028
Ensembl chrNW_004955467:9,345,153...9,350,955 		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 chrNW_004955467:9,603,800...9,608,490 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 chrNW_004955467:9,654,532...9,660,035
Ensembl chrNW_004955467:9,651,219...9,659,502 		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 chrNW_004955467:9,482,467...9,488,992
Ensembl chrNW_004955467:9,482,467...9,488,992 		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 chrNW_004955467:9,312,548...9,332,674
Ensembl chrNW_004955467:9,312,548...9,332,674 		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 chrNW_004955467:9,667,938...9,670,067
Ensembl chrNW_004955467:9,667,941...9,670,067 		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 chrNW_004955467:9,600,829...9,604,148
Ensembl chrNW_004955467:9,600,829...9,603,606 		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 chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684 		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 chrNW_004955467:8,837,895...8,841,062
Ensembl chrNW_004955467:8,837,886...8,841,739 		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 chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716 		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 chrNW_004955467:9,564,905...9,567,020 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 chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404 		JBrowse link
G LOC102029382 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759 		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 chrNW_004955467:9,335,488...9,339,888
Ensembl chrNW_004955467:9,335,488...9,339,874 		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 chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977 		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 chrNW_004955467:9,588,651...9,600,680
Ensembl chrNW_004955467:9,588,651...9,600,680 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chrNW_004955467:9,504,974...9,520,059
Ensembl chrNW_004955467:9,504,974...9,520,059 		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 chrNW_004955467:8,556,722...8,570,624 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 chrNW_004955467:8,798,436...8,813,369
Ensembl chrNW_004955467:8,797,912...8,813,365 		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 chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979 		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 chrNW_004955467:9,671,133...9,675,434
Ensembl chrNW_004955467:9,671,133...9,675,434 		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 chrNW_004955467:9,534,462...9,539,738
Ensembl chrNW_004955467:9,535,261...9,539,738 		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 chrNW_004955467:9,423,540...9,447,530
Ensembl chrNW_004955467:9,421,256...9,447,530 		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 chrNW_004955467:8,622,843...8,624,401
Ensembl chrNW_004955467:8,622,843...8,624,401 		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 chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182 		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 chrNW_004955467:9,306,210...9,308,668
Ensembl chrNW_004955467:9,305,746...9,308,668 		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 chrNW_004955467:9,301,173...9,305,010 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 chrNW_004955467:8,618,572...8,628,857
Ensembl chrNW_004955467:8,618,579...8,622,870 		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 chrNW_004955467:9,630,304...9,636,005
Ensembl chrNW_004955467:9,630,304...9,636,005 		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 chrNW_004955467:9,447,756...9,450,653 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 chrNW_004955467:9,333,620...9,335,498
Ensembl chrNW_004955467:9,333,643...9,335,498 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chrNW_004955467:9,503,229...9,504,535
Ensembl chrNW_004955467:9,503,229...9,504,535 		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 chrNW_004955467:9,493,708...9,500,466
Ensembl chrNW_004955467:9,498,541...9,500,466 		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 chrNW_004955467:9,489,867...9,493,275
Ensembl chrNW_004955467:9,489,867...9,493,275 		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 chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chrNW_004955467:9,520,854...9,522,051
Ensembl chrNW_004955467:9,520,854...9,522,045 		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 chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834 		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 chrNW_004955467:9,562,723...9,564,818
Ensembl chrNW_004955467:9,562,723...9,564,818 		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 chrNW_004955467:9,539,693...9,547,419
Ensembl chrNW_004955467:9,539,693...9,547,279 		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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		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 chrNW_004955467:9,010,936...9,012,796
Ensembl chrNW_004955467:9,011,138...9,012,796 		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 chrNW_004955467:8,793,296...8,796,771
Ensembl chrNW_004955467:8,793,296...8,796,771 		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 chrNW_004955467:9,225,506...9,240,756 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 chrNW_004955467:9,624,506...9,629,904
Ensembl chrNW_004955467:9,624,019...9,629,904 		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 chrNW_004955467:9,452,423...9,470,494
Ensembl chrNW_004955467:9,453,493...9,470,482 		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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173 		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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chrNW_004955467:9,225,506...9,240,756 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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173 		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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		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 chrNW_004955416:29,103,925...29,389,149
Ensembl chrNW_004955416:29,161,695...29,386,111 		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 chrNW_004955416:29,261,347...29,262,696 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 chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:28492532 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116 		JBrowse link
G Acvr2a activin A receptor type 2A ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chrNW_004955440:13,849,926...13,931,374
Ensembl chrNW_004955440:13,849,926...13,931,374 		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 chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832 		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 chrNW_004955421:4,296,058...4,296,534 JBrowse link
G Arhgef33 Rho guanine nucleotide exchange factor 33 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,553,460...6,638,776
Ensembl chrNW_004955441:6,581,454...6,636,828 		JBrowse link
G Aste1 asteroid homolog 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chrNW_004955501:7,373,713...7,383,092 JBrowse link
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,004,209...6,034,484
Ensembl chrNW_004955441:6,004,209...6,034,476 		JBrowse link
G Atp6v1e2 ATPase H+ transporting V1 subunit E2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,432,951...13,458,467
Ensembl chrNW_004955441:13,432,951...13,458,467 		JBrowse link
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Ca12 carbonic anhydrase 12 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chrNW_004955450:11,927,730...11,975,553
Ensembl chrNW_004955450:11,943,340...11,975,928 		JBrowse link
G Ca2 carbonic anhydrase 2 ISO protein:decreased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO protein:increased expression:colorectum RGD PMID:17855694 RGD:155226867 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,973,147...13,988,665
Ensembl chrNW_004955574:672,300...680,924
Ensembl chrNW_004955438:672,300...680,924 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:11,453,939...11,830,893
Ensembl chrNW_004955441:11,454,345...11,825,211 		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 chrNW_004955460:13,842,679...13,867,750 JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chrNW_004955422:11,106,061...11,189,951 JBrowse link
G Cdkl4 cyclin dependent kinase like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,802,669...6,842,378
Ensembl chrNW_004955441:6,802,669...6,841,896 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:26467025 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		JBrowse link
G Cox7a2l cytochrome c oxidase subunit 7A2 like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:9,732,168...9,743,052
Ensembl chrNW_004955441:9,733,894...9,743,354 		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 chrNW_004955441:13,525,686...13,533,458
Ensembl chrNW_004955441:13,525,686...13,533,458 		JBrowse link
G Dhx57 DExH-box helicase 57 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,479,107...6,541,281
Ensembl chrNW_004955441:6,477,521...6,541,994 		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 chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		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 chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194 		JBrowse link
G E2f4 E2F transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chrNW_004955484:9,421,396...9,427,826
Ensembl chrNW_004955484:9,421,396...9,427,825 		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 chrNW_004955460:13,723,674...13,754,545
Ensembl chrNW_004955460:13,723,777...13,754,150 		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 chrNW_004955523:553,356...559,376
Ensembl chrNW_004955523:553,356...559,376 		JBrowse link
G Eml4 EMAP like 4 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:9,633,906...9,715,866
Ensembl chrNW_004955441:9,640,899...9,713,596 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369 		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 chrNW_004955441:14,155,084...14,167,584
Ensembl chrNW_004955441:14,155,082...14,169,161 		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 chrNW_004955421:3,882,486...3,889,851
Ensembl chrNW_004955421:3,888,007...3,889,833 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chrNW_004955409:16,751,658...16,809,352 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 chrNW_004955441:14,471,283...14,495,508
Ensembl chrNW_004955441:14,471,283...14,553,916 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219 		JBrowse link
G Gemin6 gem nuclear organelle associated protein 6 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,456,482...6,461,027
Ensembl chrNW_004955441:6,456,537...6,461,027 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer ClinVar PMID:11528398 PMID:12177386 PMID:12473753 PMID:12473769 PMID:12497639 More... NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		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 chrNW_004955421:4,130,040...4,251,968
Ensembl chrNW_004955421:4,131,653...4,243,651 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:28492532 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015 		JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:6,229,692...6,269,051
Ensembl chrNW_004955441:6,229,692...6,257,214 		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 chrNW_004955421:4,331,053...4,663,101
Ensembl chrNW_004955421:4,331,048...4,663,092 		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 chrNW_004955441:9,813,391...9,859,960
Ensembl chrNW_004955441:9,816,209...9,860,707 		JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:18269114 PMID:24323032 PMID:24362816 PMID:28135145 PMID:28492532 NCBI chrNW_004955441:14,270,030...14,281,639 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:11,012,910...11,116,965 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 chrNW_004955421:3,938,054...4,066,701
Ensembl chrNW_004955421:3,938,054...4,066,060 		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 chrNW_004955441:6,843,066...6,956,443
Ensembl chrNW_004955441:6,846,719...6,956,418 		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 chrNW_004955441:13,766,683...13,776,305
Ensembl chrNW_004955441:13,764,144...13,777,628 		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 chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:11586295 PMID:12800209 PMID:18521850 PMID:19156873 PMID:25637381 More... NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410 		JBrowse link
G Morn2 MORN repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004956800:124...2,031 JBrowse link
G Msh2 mutS homolog 2 onset ISO 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: 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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		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: Colorectal cancer, non-polyposis | 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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		JBrowse link
G Mta3 metastasis associated 1 family member 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:9,965,727...10,108,467
Ensembl chrNW_004955441:9,965,500...10,108,467 		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 chrNW_004955452:6,251,047...6,253,541
Ensembl chrNW_004955452:6,250,889...6,254,541 		JBrowse link
G Nudc nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chrNW_004955452:6,261,500...6,278,393
Ensembl chrNW_004955452:6,261,286...6,278,393 		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 chrNW_004955460:13,876,279...13,880,643 JBrowse link
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004955403:9,100,516...9,113,230
Ensembl chrNW_004955403:9,100,516...9,113,223 		JBrowse link
G Pigf phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,492,334...13,525,581 JBrowse link
G Pkdcc protein kinase domain containing, cytoplasmic ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:9,462,530...9,471,446
Ensembl chrNW_004955441:9,462,530...9,471,446 		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 chrNW_004955441:10,818,982...10,921,224
Ensembl chrNW_004955441:10,825,499...10,919,901 		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 chrNW_004955403:9,021,488...9,100,442
Ensembl chrNW_004955403:9,022,078...9,100,442 		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: 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 chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:11,276,525...11,338,586
Ensembl chrNW_004955441:11,276,525...11,352,095 		JBrowse link
G Prepl prolyl endopeptidase like ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:11,418,299...11,453,889
Ensembl chrNW_004955441:11,418,299...11,453,218 		JBrowse link
G Prkce protein kinase C epsilon ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:12,642,703...13,142,396
Ensembl chrNW_004955441:12,642,697...13,139,372 		JBrowse link
G Rhoq ras homolog family member Q ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,457,757...13,495,221
Ensembl chrNW_004955441:13,457,757...13,495,221 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:5,710,487...5,776,351
Ensembl chrNW_004955441:5,716,934...5,774,668 		JBrowse link
G Rnasel ribonuclease L onset ISO DNA:substitution:cds:amino acid R462G RGD PMID:16054567 RGD:2292000 NCBI chrNW_004955406:21,413,950...21,424,860
Ensembl chrNW_004955406:21,411,980...21,425,052 		JBrowse link
G Rnaset2 ribonuclease T2 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chrNW_004955439:15,098,210...15,122,015
Ensembl chrNW_004955439:15,098,114...15,125,413 		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 chrNW_004955454:15,151,065...15,152,301
Ensembl chrNW_004955454:15,151,065...15,152,301 		JBrowse link
G Rsph10b 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 chrNW_004955460:13,791,666...13,840,754 JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:12,029,530...12,033,214
Ensembl chrNW_004955441:12,029,480...12,033,214 		JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:11,966,389...11,978,545
Ensembl chrNW_004955441:11,966,389...11,979,466 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:7,653,107...8,037,784
Ensembl chrNW_004955441:7,656,031...7,957,640 		JBrowse link
G Smad2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
G Smad3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538 		JBrowse link
G Socs5 suppressor of cytokine signaling 5 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,593,342...13,657,389
Ensembl chrNW_004955441:13,593,342...13,657,389 		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 chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
G Srbd1 S1 RNA binding domain 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:12,374,940...12,642,295
Ensembl chrNW_004955441:12,375,565...12,606,923 		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 chrNW_004955441:6,416,709...6,423,185
Ensembl chrNW_004955441:6,416,952...6,423,074 		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 chrNW_004955441:13,926,926...13,969,316
Ensembl chrNW_004955441:13,925,403...13,969,052 		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 chrNW_004955487:5,359,132...5,394,564
Ensembl chrNW_004955487:5,359,112...5,394,707 		JBrowse link
G Tcf4 transcription factor 4 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chrNW_004955402:39,735,596...40,066,151
Ensembl chrNW_004955402:39,735,600...40,066,151 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		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 chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Thada THADA armadillo repeat containing ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:10,471,555...10,792,881
Ensembl chrNW_004955441:10,470,533...10,774,601 		JBrowse link
G Thumpd2 THUMP domain 2 tRNA and snRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:7,329,468...7,369,957
Ensembl chrNW_004955441:7,329,093...7,369,782 		JBrowse link
G Tmem178a transmembrane protein 178A ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:7,296,200...7,309,556
Ensembl chrNW_004955441:7,296,200...7,309,556 		JBrowse link
G Tmem247 transmembrane protein 247 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,404,855...13,409,919 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 chrNW_004955414:22,324,847...22,330,912
Ensembl chrNW_004955414:22,324,856...22,330,912 		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 chrNW_004955421:3,707,510...3,852,886
Ensembl chrNW_004955421:3,707,510...3,853,868 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:13,804,791...13,915,969
Ensembl chrNW_004955441:13,793,216...13,916,423 		JBrowse link
G Zfp36l2 ZFP36 ring finger protein like 2 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms ClinVar PMID:28492532 NCBI chrNW_004955441:10,467,608...10,469,885 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 chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		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 chrNW_004955460:13,842,679...13,867,750 JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173 		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 chrNW_004955460:13,723,674...13,754,545
Ensembl chrNW_004955460:13,723,777...13,754,150 		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 chrNW_004955441:14,155,084...14,167,584
Ensembl chrNW_004955441:14,155,082...14,169,161 		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 chrNW_004955441:14,471,283...14,495,508
Ensembl chrNW_004955441:14,471,283...14,553,916 		JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar NCBI chrNW_004955441:14,270,030...14,281,639 JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome II ClinVar PMID:21785361 NCBI chrNW_004955421:3,938,054...4,066,701
Ensembl chrNW_004955421:3,938,054...4,066,060 		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 chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410 		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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		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 chrNW_004955464:12,927,669...12,936,894
Ensembl chrNW_004955464:12,933,497...12,938,468 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488 		JBrowse link
G Ocm oncomodulin ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chrNW_004955460:13,876,279...13,880,643 JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:9,021,488...9,100,442
Ensembl chrNW_004955403:9,022,078...9,100,442 		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 chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955481:9,795,102...9,810,426
Ensembl chrNW_004955481:9,795,102...9,810,426 		JBrowse link
G Rsph10b radial spoke head 10 homolog B ISO ClinVar Annotator: match by term: Lynch syndrome 1 ClinVar PMID:25741868 PMID:36647049 NCBI chrNW_004955460:13,791,666...13,840,754 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 chrNW_004955437:1,839,707...1,840,516 JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,947,139...1,948,657
Ensembl chrNW_004955437:1,947,093...1,948,541 		JBrowse link
G Daxx death domain associated protein ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,869,692...1,874,041
Ensembl chrNW_004955437:1,869,572...1,873,050 		JBrowse link
G Hsd17b8 hydroxysteroid 17-beta dehydrogenase 8 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,778,276...1,780,397
Ensembl chrNW_004955437:1,778,276...1,780,397 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,923,136...1,941,094
Ensembl chrNW_004955437:1,923,506...1,940,970 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,848,571...1,849,824
Ensembl chrNW_004955437:1,848,571...1,849,824 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,943,049...1,947,027
Ensembl chrNW_004955437:1,943,065...1,946,705 		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 chrNW_004955437:1,500,477...1,504,072
Ensembl chrNW_004955437:1,500,477...1,504,072 		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 chrNW_004955437:1,851,005...1,857,567
Ensembl chrNW_004955437:1,851,005...1,856,720 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,782,156...1,785,811
Ensembl chrNW_004955437:1,782,115...1,788,842 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,833,338...1,838,776
Ensembl chrNW_004955437:1,833,125...1,838,827 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,767,833...1,774,401
Ensembl chrNW_004955437:1,767,833...1,774,401 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,774,301...1,778,092
Ensembl chrNW_004955437:1,774,301...1,778,092 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,950,559...1,981,004
Ensembl chrNW_004955437:1,950,602...1,979,251 		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 chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097 		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 chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		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 chrNW_004955437:1,860,057...1,865,645
Ensembl chrNW_004955437:1,858,328...1,866,233 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,820,355...1,833,615
Ensembl chrNW_004955437:1,820,817...1,833,363 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:1,840,875...1,848,258
Ensembl chrNW_004955437:1,840,791...1,848,172 		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 chrNW_004955437:1,867,834...1,869,066 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 chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		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 chrNW_004955437:1,860,057...1,865,645
Ensembl chrNW_004955437:1,858,328...1,866,233 		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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,545,532...1,555,826
Ensembl chrNW_004955545:1,545,635...1,555,614 		JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		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 chrNW_004955431:9,059,074...9,097,597
Ensembl chrNW_004955431:9,059,098...9,097,510 		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 chrNW_004955413:531,716...550,480
Ensembl chrNW_004955413:531,970...548,294 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:352,175...374,723
Ensembl chrNW_004955588:352,176...370,418 		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 chrNW_004955413:506,297...509,787
Ensembl chrNW_004955413:506,297...509,787 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:845,749...848,738
Ensembl chrNW_004955545:845,749...848,738 		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 chrNW_004955545:2,149,107...2,192,986
Ensembl chrNW_004955545:2,149,107...2,197,153 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:159,462...233,047
Ensembl chrNW_004955588:159,462...233,047 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,778,905...1,950,656
Ensembl chrNW_004955545:1,778,905...1,923,104 		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 chrNW_004955442:7,896,626...7,975,579
Ensembl chrNW_004955442:7,894,518...7,941,580 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:850,522...872,650
Ensembl chrNW_004955545:852,201...872,789 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,723,780...2,739,334
Ensembl chrNW_004955545:2,723,780...2,739,450 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:409,509...417,825
Ensembl chrNW_004955588:409,511...417,825 		JBrowse link
G C2cd4d C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:582,261...583,519 JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:510,089...516,892
Ensembl chrNW_004955413:510,089...516,892 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,382,360...9,388,414
Ensembl chrNW_004955442:9,382,354...9,388,414 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,444,988...2,460,976
Ensembl chrNW_004955545:2,444,988...2,461,113 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:423,091...440,248
Ensembl chrNW_004955588:423,091...429,917 		JBrowse link
G Celf3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:700,965...715,684
Ensembl chrNW_004955589:701,767...713,179 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:338,381...342,139
Ensembl chrNW_004955588:336,083...342,599 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:752,737...754,039
Ensembl chrNW_004955545:752,737...754,042 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:855,715...881,123
Ensembl chrNW_004955589:856,618...881,150 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,065,457...1,077,056
Ensembl chrNW_004955545:1,065,457...1,077,526 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:282,342...292,428
Ensembl chrNW_004955545:282,342...292,785 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:490,117...494,332 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 chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,479,454...1,483,474
Ensembl chrNW_004955545:1,479,454...1,483,474 		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 chrNW_004955442:7,369,616...7,584,052
Ensembl chrNW_004955442:7,368,952...7,584,703 		JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,716,294...1,727,187
Ensembl chrNW_004955545:1,716,294...1,725,185 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,777,523...2,782,567
Ensembl chrNW_004955545:2,777,474...2,782,567 		JBrowse link
G Crct1 cysteine rich C-terminal 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:895,325...896,939 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 chrNW_004955545:563,710...569,224
Ensembl chrNW_004955545:564,193...568,942 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:47,743...75,383
Ensembl chrNW_004955589:47,531...77,458 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:542,916...554,675
Ensembl chrNW_004955545:541,849...554,884 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:149,036...158,093
Ensembl chrNW_004955588:148,748...158,093 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:99,279...124,793
Ensembl chrNW_004955413:99,159...124,042 		JBrowse link
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:760,857...767,801
Ensembl chrNW_004955545:760,684...767,896 		JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:496,136...505,911
Ensembl chrNW_004955413:497,012...503,792 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,951,008...1,981,174
Ensembl chrNW_004955545:1,951,150...1,980,861 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,529,926...1,545,459
Ensembl chrNW_004955545:1,530,062...1,545,139 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,518,917...1,529,865
Ensembl chrNW_004955545:1,523,100...1,529,865 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:526,057...541,118
Ensembl chrNW_004955545:523,705...541,118 		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 chrNW_004955442:7,585,954...7,599,413
Ensembl chrNW_004955442:7,585,954...7,599,413 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,621,515...1,622,103
Ensembl chrNW_004955545:1,617,538...1,638,062 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:293,295...299,293
Ensembl chrNW_004955413:290,363...299,130 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,610,929...1,617,217
Ensembl chrNW_004955545:1,610,929...1,617,460 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,570,351...1,578,610
Ensembl chrNW_004955545:1,570,339...1,577,639 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,557,107...1,561,234
Ensembl chrNW_004955545:1,556,584...1,561,354 		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 chrNW_004955442:7,826,967...7,862,035
Ensembl chrNW_004955442:7,826,738...7,860,028 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:197,239...204,867
Ensembl chrNW_004955413:197,242...204,867 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,703,860...1,710,120
Ensembl chrNW_004955545:1,704,422...1,709,605 		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 chrNW_004955431:9,048,210...9,058,079
Ensembl chrNW_004955431:9,049,896...9,058,264 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,487,929...1,495,808
Ensembl chrNW_004955545:1,487,818...1,497,839 		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 chrNW_004955588:439,822...477,159
Ensembl chrNW_004955588:459,211...480,421 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:424,997...519,031
Ensembl chrNW_004955545:430,245...517,790 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,436,718...2,439,988
Ensembl chrNW_004955545:2,437,245...2,439,940 		JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:154,696...183,657
Ensembl chrNW_004955413:150,864...183,657 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,990,202...2,054,614 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,684,827...2,694,733
Ensembl chrNW_004955545:2,685,568...2,693,133 		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 chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,705,903...2,710,763
Ensembl chrNW_004955545:2,709,013...2,710,588 		JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,161,383...9,189,376
Ensembl chrNW_004955442:9,164,113...9,189,588 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:816,789...819,667 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 chrNW_004955545:1,730,940...1,744,439
Ensembl chrNW_004955545:1,730,940...1,742,065 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,819,960...2,831,197
Ensembl chrNW_004955545:2,819,960...2,830,047 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:130,214...155,381
Ensembl chrNW_004955413:132,711...152,720 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:308,560...316,053
Ensembl chrNW_004955545:306,140...316,485 		JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,911,691...2,928,335
Ensembl chrNW_004955545:2,911,691...2,928,326 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:352,170...394,751
Ensembl chrNW_004955545:351,872...396,052 		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 chrNW_004955545:2,627,334...2,663,786
Ensembl chrNW_004955545:2,628,552...2,663,737 		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 chrNW_004955545:2,797,370...2,804,142
Ensembl chrNW_004955545:2,795,936...2,804,248 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:522,730...525,728 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:569,473...571,725
Ensembl chrNW_004955545:569,473...571,725 		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 chrNW_004955545:1,212,240...1,374,189
Ensembl chrNW_004955545:1,216,650...1,374,270 		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 chrNW_004955545:2,100,440...2,120,412
Ensembl chrNW_004955545:2,100,440...2,120,411 		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 chrNW_004955592:680,843...682,874
Ensembl chrNW_004955592:681,046...681,930 		JBrowse link
G Kprp keratinocyte proline rich protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:642,559...647,030 JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,642,578...1,645,699
Ensembl chrNW_004955545:1,642,578...1,645,698 		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 chrNW_004955545:2,237,506...2,242,070
Ensembl chrNW_004955545:2,236,868...2,242,137 		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 chrNW_004955592:219,771...222,770
Ensembl chrNW_004955592:217,385...222,865 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,495,877...1,497,014 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 chrNW_004955589:618,959...623,915
Ensembl chrNW_004955589:618,998...623,239 		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 chrNW_004955442:7,054,418...7,084,973
Ensembl chrNW_004955442:7,077,823...7,083,437 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G LOC102022034 chromosome unknown open reading frame, human C1orf56 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:417,837...421,880 JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:167,139...169,638 JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:517,313...526,857
Ensembl chrNW_004955588:517,313...526,856 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:238,043...243,317 JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,569,399...2,602,580
Ensembl chrNW_004955545:2,569,399...2,602,579 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,804,327...2,814,081
Ensembl chrNW_004955545:2,804,456...2,814,081 		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 chrNW_004955545:2,255,612...2,260,860
Ensembl chrNW_004955545:2,255,704...2,260,770 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:371,325...382,167
Ensembl chrNW_004955588:371,739...377,004 		JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:427,102...438,578 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,814,358...2,818,648
Ensembl chrNW_004955545:2,814,358...2,818,648 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:662,713...666,488
Ensembl chrNW_004955589:662,713...666,488 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:471,334...484,780
Ensembl chrNW_004955413:471,334...484,780 		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 chrNW_004955545:1,985,231...1,990,095
Ensembl chrNW_004955545:1,985,780...1,990,047 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:817,479...825,435
Ensembl chrNW_004955413:817,264...824,924 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,676,292...1,682,106 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,682,384...2,687,348
Ensembl chrNW_004955545:2,682,385...2,684,518 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:323,386...338,654
Ensembl chrNW_004955545:323,956...338,097 		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 chrNW_004955524:2,634,302...2,635,982
Ensembl chrNW_004955524:2,618,957...2,635,982 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579 		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 chrNW_004955442:7,717,422...7,732,496
Ensembl chrNW_004955442:7,717,422...7,732,496 		JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:601,727...714,225
Ensembl chrNW_004955545:601,900...714,135 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:654,088...658,003 JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:758,098...812,605
Ensembl chrNW_004955413:751,546...812,605 		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 chrNW_004955545:2,382,214...2,386,406
Ensembl chrNW_004955545:2,382,818...2,385,325 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,451,541...1,467,856
Ensembl chrNW_004955545:1,452,395...1,462,639 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:100,022...111,609
Ensembl chrNW_004955592:100,088...111,610 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:648,180...679,374
Ensembl chrNW_004955588:648,180...679,374 		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 chrNW_004955588:555,818...605,459
Ensembl chrNW_004955588:555,821...605,723 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:603,011...606,487
Ensembl chrNW_004955413:603,128...616,015 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038 		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 chrNW_004955589:920,729...975,242
Ensembl chrNW_004955589:920,508...976,366 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,846,116...2,878,247
Ensembl chrNW_004955545:2,852,621...2,878,664 		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 chrNW_004955442:7,308,621...7,309,105
Ensembl chrNW_004955442:7,306,672...7,309,671 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:429,259...455,449
Ensembl chrNW_004955413:429,259...455,463 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:208,102...209,795
Ensembl chrNW_004955592:208,102...209,795 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:379,793...408,441
Ensembl chrNW_004955588:382,425...407,020 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617 		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 chrNW_004955588:607,763...618,040
Ensembl chrNW_004955588:607,289...618,040 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:590,021...594,191
Ensembl chrNW_004955545:589,239...594,835 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,243,237...2,250,507
Ensembl chrNW_004955545:2,242,944...2,252,840 		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 chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695 		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 chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765 		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 chrNW_004955431:9,200,006...9,209,588
Ensembl chrNW_004955431:9,200,117...9,208,811 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,491,417...2,504,013
Ensembl chrNW_004955545:2,490,924...2,504,085 		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 chrNW_004955589:686,722...695,805 JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404 		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 chrNW_004955442:7,262,381...7,266,992
Ensembl chrNW_004955442:7,262,381...7,267,428 		JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:590,653...616,784
Ensembl chrNW_004955589:590,743...616,694 		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 chrNW_004955413:321,707...420,626
Ensembl chrNW_004955413:324,873...419,347 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:599,762...601,399
Ensembl chrNW_004955545:599,762...601,399 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:245,804...252,190 JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,765,364...1,773,889
Ensembl chrNW_004955545:1,765,800...1,773,889 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,143,832...2,145,939 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:276,868...281,015
Ensembl chrNW_004955545:276,868...281,015 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:435,798...446,361 JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:405,544...409,936
Ensembl chrNW_004955589:408,319...413,971 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:266,674...282,408
Ensembl chrNW_004955545:264,455...282,497 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:261,483...263,689
Ensembl chrNW_004955545:261,323...264,374 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:254,370...260,471
Ensembl chrNW_004955545:254,370...260,471 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:195,834...205,442
Ensembl chrNW_004955545:195,779...205,471 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:192,236...194,468
Ensembl chrNW_004955545:192,116...195,394 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:187,159...190,399
Ensembl chrNW_004955545:187,147...190,143 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:90,647...93,842 JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,710,755...1,715,739
Ensembl chrNW_004955545:1,709,381...1,715,739 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:703,928...713,941
Ensembl chrNW_004955588:703,928...714,763 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,316,402...2,341,873
Ensembl chrNW_004955545:2,316,390...2,342,233 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:490,581...504,436
Ensembl chrNW_004955588:490,615...500,189 		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 chrNW_004955588:290,497...338,438
Ensembl chrNW_004955588:290,168...338,426 		JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:826,190...830,502
Ensembl chrNW_004955413:826,190...832,496 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,881,954...2,891,021
Ensembl chrNW_004955545:2,881,563...2,891,509 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:989,390...1,011,100
Ensembl chrNW_004955545:991,593...1,011,080 		JBrowse link
G Slc25a44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,347,951...2,364,935
Ensembl chrNW_004955545:2,347,844...2,364,935 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:395,938...400,324
Ensembl chrNW_004955545:396,102...400,188 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:556,210...559,732
Ensembl chrNW_004955545:554,947...560,336 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,617,725...1,620,804
Ensembl chrNW_004955545:1,617,538...1,625,022 		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 chrNW_004955431:9,117,616...9,184,920 JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,386,877...2,418,418
Ensembl chrNW_004955545:2,386,877...2,418,418 		JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:306,546...308,229
Ensembl chrNW_004955545:306,546...308,229 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:719,892...799,367
Ensembl chrNW_004955589:719,898...799,366 		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 chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109 		JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955592:424,261...426,415 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,205,906...2,213,780
Ensembl chrNW_004955545:2,205,906...2,212,851 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,054,720...2,074,526
Ensembl chrNW_004955545:2,054,721...2,074,526 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:300,142...314,703
Ensembl chrNW_004955413:300,142...314,703 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:293,887...302,128 JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:335,920...343,206 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:630,989...649,936
Ensembl chrNW_004955589:631,462...649,936 		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 chrNW_004955442:7,740,611...7,778,130
Ensembl chrNW_004955442:7,740,540...7,778,245 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,664,372...1,675,810
Ensembl chrNW_004955545:1,664,372...1,675,810 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:517,489...545,779
Ensembl chrNW_004955589:517,600...547,649 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:546,592...571,844
Ensembl chrNW_004955589:565,182...574,872 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,411,849...9,414,017
Ensembl chrNW_004955442:9,411,908...9,417,324 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,420,594...2,436,485
Ensembl chrNW_004955545:2,420,592...2,436,485 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:530,288...535,789
Ensembl chrNW_004955588:526,380...535,895 		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 chrNW_004955588:514,567...517,314
Ensembl chrNW_004955588:514,567...517,314 		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 chrNW_004955442:7,311,826...7,314,046 JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:715,860...746,580
Ensembl chrNW_004955545:715,280...746,575 		JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,646,244...1,656,825
Ensembl chrNW_004955545:1,646,244...1,656,825 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,670,629...2,679,093 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955589:817,001...854,492
Ensembl chrNW_004955589:817,001...854,492 		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 chrNW_004955442:7,691,770...7,716,383
Ensembl chrNW_004955442:7,692,579...7,716,699 		JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:767,265...815,632
Ensembl chrNW_004955545:768,058...815,632 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:1,047,536...1,055,806
Ensembl chrNW_004955545:1,046,138...1,055,806 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955545:2,218,794...2,236,665
Ensembl chrNW_004955545:2,220,548...2,236,646 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955442:9,316,022...9,355,751
Ensembl chrNW_004955442:9,315,225...9,356,393 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955413:615,510...680,564
Ensembl chrNW_004955413:614,018...680,564 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:537,122...550,564
Ensembl chrNW_004955588:536,788...551,241 		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 chrNW_004955545:1,504,656...1,519,954
Ensembl chrNW_004955545:1,503,514...1,521,003 		JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: MHC class II deficiency ClinVar PMID:28492532 NCBI chrNW_004955588:639,677...647,978
Ensembl chrNW_004955588:642,521...647,396 		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 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 chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624 		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 chrNW_004955524:2,634,302...2,635,982
Ensembl chrNW_004955524:2,618,957...2,635,982 		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 chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695 		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 chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765 		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 chrNW_004955431:9,200,006...9,209,588
Ensembl chrNW_004955431:9,200,117...9,208,811 		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 chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765 		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 chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695 		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 chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765 		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 chrNW_004955431:9,200,006...9,209,588
Ensembl chrNW_004955431:9,200,117...9,208,811 		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 chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695 		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 chrNW_004955430:221,518...508,094 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 chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526 		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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		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 chrNW_004955417:6,893,231...6,931,754
Ensembl chrNW_004955417:6,893,231...6,931,754 		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 chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133 		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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:14517956 PMID:16602010 PMID:17204055 PMID:19790256 PMID:20337973 More... NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 | 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 chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133 		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 chrNW_004955417:6,816,348...6,833,257
Ensembl chrNW_004955417:6,816,346...6,833,810 		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 chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361 		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 chrNW_004955408:3,953,801...4,035,494
Ensembl chrNW_004955408:3,953,800...4,035,494 		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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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 chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577 		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 chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chrNW_004955460:3,560,046...3,562,002
Ensembl chrNW_004955460:3,560,046...3,562,344 		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 chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422 		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 chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		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 chrNW_004955452:11,254,853...11,275,587 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 chrNW_004955425:20,664,412...20,705,070
Ensembl chrNW_004955425:20,661,727...20,702,754 		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 chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422 		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 chrNW_004955470:2,182,163...2,262,804
Ensembl chrNW_004955470:2,183,766...2,262,900 		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 chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422 		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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		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 chrNW_004955452:11,254,853...11,275,587 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 chrNW_004955462:9,466,706...9,539,897
Ensembl chrNW_004955462:9,469,255...9,538,882 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:8490660 PMID:15546002 PMID:25741868 PMID:28492532 PMID:33628209 NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		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 chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485 		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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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 chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118 		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 chrNW_004955434:4,806,409...4,820,650 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 chrNW_004955411:10,836,060...10,903,650
Ensembl chrNW_004955411:10,838,271...10,905,256 		JBrowse link
G Epo erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		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 chrNW_004955481:4,611,246...4,640,606
Ensembl chrNW_004955481:4,611,087...4,627,113 		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 chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647 		JBrowse link
G Il2 interleukin 2 ISO mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517 		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 chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577 		JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chrNW_004955453:2,938,659...3,037,211
Ensembl chrNW_004955453:2,938,659...3,037,211 		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 chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		JBrowse link
G Kdm2b lysine demethylase 2B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chrNW_004955482:6,774,021...6,885,113
Ensembl chrNW_004955482:6,774,059...6,887,171 		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 chrNW_004955452:10,608,317...10,632,310
Ensembl chrNW_004955452:10,608,318...10,632,310 		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 chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193 		JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chrNW_004955402:42,919,480...42,968,873
Ensembl chrNW_004955402:42,911,649...42,972,429 		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 chrNW_004955441:13,766,683...13,776,305
Ensembl chrNW_004955441:13,764,144...13,777,628 		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 chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773 		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 chrNW_004955406:12,182,115...12,194,683
Ensembl chrNW_004955406:12,182,046...12,199,669 		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 chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876 		JBrowse link
G Nr2c2ap nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar NCBI chrNW_004955524:2,634,302...2,635,982
Ensembl chrNW_004955524:2,618,957...2,635,982 		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 chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216 		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 chrNW_004955445:12,717,962...12,818,734
Ensembl chrNW_004955445:12,717,962...12,818,734 		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 chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068 		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 chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chrNW_004955406:35,005,577...35,127,395
Ensembl chrNW_004955406:35,005,214...35,129,552 		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 chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704 		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 chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		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 chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695 		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 chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765 		JBrowse link
G Rfxap regulatory factor X associated protein ISO ClinVar Annotator: match by term: Bare Lymphocyte Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955431:9,200,006...9,209,588
Ensembl chrNW_004955431:9,200,117...9,208,811 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chrNW_004955445:12,308,285...12,399,012
Ensembl chrNW_004955445:12,308,285...12,399,012 		JBrowse link
G Tapbp TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chrNW_004955437:1,860,057...1,865,645
Ensembl chrNW_004955437:1,858,328...1,866,233 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chrNW_004955441:13,804,791...13,915,969
Ensembl chrNW_004955441:13,793,216...13,916,423 		JBrowse link
G Vdac2 voltage dependent anion channel 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 NCBI chrNW_004955437:16,857,715...16,871,717
Ensembl chrNW_004955437:16,853,433...16,872,345 		JBrowse link
G Zap70 zeta-chain (TCR) associated protein kinase 70kDa ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:11123350 PMID:20301777 PMID:25741868 PMID:28492532 PMID:33184721 More... NCBI chrNW_004955470:4,379,260...4,397,851
Ensembl chrNW_004955470:4,386,311...4,396,419 		JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chrNW_004955466:5,378,247...5,395,616
Ensembl chrNW_004955466:5,378,247...5,395,616 		JBrowse link
severe combined immunodeficiency 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721 		JBrowse link
G Coro1a coronin 1A ISO OMIM:608971 MouseDO NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485 		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 chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577 		JBrowse link
G Jak3 Janus kinase 3 ISO OMIM:608971 MouseDO NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		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 chrNW_004955406:35,005,577...35,127,395
Ensembl chrNW_004955406:35,005,214...35,129,552 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		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 chrNW_004955406:35,005,577...35,127,395
Ensembl chrNW_004955406:35,005,214...35,129,552 		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 chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876 		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 chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741 		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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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 chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193 		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 chrNW_004955429:19,435,004...19,444,833
Ensembl chrNW_004955429:19,433,900...19,444,360 		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 chrNW_004955429:19,503,197...19,526,454
Ensembl chrNW_004955429:19,503,197...19,528,027 		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 (TCR) associated protein kinase 70kDa ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, atypical ClinVar PMID:8124727 PMID:20301777 PMID:25741868 PMID:27448562 PMID:28492532 NCBI chrNW_004955470:4,379,260...4,397,851
Ensembl chrNW_004955470:4,386,311...4,396,419 		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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO 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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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 chrNW_004955422:9,804,012...9,867,580
Ensembl chrNW_004955422:9,804,075...9,851,434 		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 chrNW_004955524:3,413,764...3,415,691
Ensembl chrNW_004955524:3,413,246...3,416,025 		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 chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO OMIM:601457 MouseDO NCBI chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867 		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 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 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 		OMIM
ClinVar		 PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		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 chrNW_004955524:3,385,056...3,387,743
Ensembl chrNW_004955524:3,384,209...3,387,743 		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 chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187 		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 chrNW_004955524:3,372,539...3,380,758 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 chrNW_004955408:30,067,455...30,087,095
Ensembl chrNW_004955408:30,067,557...30,086,705 		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 chrNW_004955524:3,413,764...3,415,691
Ensembl chrNW_004955524:3,413,246...3,416,025 		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 chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		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 chrNW_004955524:3,385,056...3,387,743
Ensembl chrNW_004955524:3,384,209...3,387,743 		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 chrNW_004955524:3,372,539...3,380,758 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 chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		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 chrNW_004955481:4,611,246...4,640,606
Ensembl chrNW_004955481:4,611,087...4,627,113 		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 chrNW_004955445:11,434,649...11,454,806
Ensembl chrNW_004955445:11,434,082...11,454,806 		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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		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 chrNW_004955445:12,623,333...12,640,127
Ensembl chrNW_004955445:12,621,972...12,639,835 		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 chrNW_004955445:11,399,151...11,405,069
Ensembl chrNW_004955445:11,399,151...11,405,069 		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 chrNW_004955445:11,931,996...11,936,534
Ensembl chrNW_004955445:11,931,200...11,975,660 		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 chrNW_004955445:11,479,582...11,501,008
Ensembl chrNW_004955445:11,479,582...11,501,008 		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 chrNW_004955445:13,027,431...13,032,089 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 chrNW_004955445:13,045,864...13,097,447
Ensembl chrNW_004955445:13,045,864...13,072,974 		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 chrNW_004955445:13,487,498...13,488,284 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 chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		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 chrNW_004955445:13,542,726...13,580,204
Ensembl chrNW_004955445:13,543,804...13,580,204 		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 chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		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 chrNW_004955445:12,604,456...12,610,502
Ensembl chrNW_004955445:12,605,208...12,610,458 		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 chrNW_004955445:12,293,394...12,299,741
Ensembl chrNW_004955445:12,293,394...12,299,787 		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 chrNW_004955445:12,027,626...12,040,589
Ensembl chrNW_004955445:12,029,882...12,040,335 		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 chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		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 chrNW_004955445:13,496,919...13,530,689
Ensembl chrNW_004955445:13,496,919...13,530,689 		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 chrNW_004955445:11,405,195...11,407,819
Ensembl chrNW_004955445:11,405,195...11,407,819 		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 chrNW_004955445:13,097,438...13,111,825
Ensembl chrNW_004955445:13,099,747...13,115,284 		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 chrNW_004955445:12,425,738...12,450,830
Ensembl chrNW_004955445:12,422,204...12,450,024 		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 chrNW_004955445:11,355,227...11,368,392
Ensembl chrNW_004955445:11,355,227...11,368,392 		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 chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820 		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 chrNW_004955445:12,717,962...12,818,734
Ensembl chrNW_004955445:12,717,962...12,818,734 		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 chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217 		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 chrNW_004955445:12,991,667...13,004,174
Ensembl chrNW_004955445:12,991,753...13,003,649 		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 chrNW_004955445:12,017,500...12,029,507
Ensembl chrNW_004955445:12,017,500...12,029,507 		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 chrNW_004955445:12,542,824...12,604,355
Ensembl chrNW_004955445:12,542,818...12,604,355 		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 chrNW_004955445:11,990,916...12,009,178
Ensembl chrNW_004955445:11,990,792...12,011,553 		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 chrNW_004955445:12,837,616...12,868,631
Ensembl chrNW_004955445:12,837,586...12,865,758 		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 chrNW_004955445:11,454,802...11,462,625
Ensembl chrNW_004955445:11,454,802...11,462,625 		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 chrNW_004955445:11,408,552...11,409,730
Ensembl chrNW_004955445:11,408,552...11,409,730 		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 chrNW_004955445:12,308,285...12,399,012
Ensembl chrNW_004955445:12,308,285...12,399,012 		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 chrNW_004955445:11,934,907...11,975,670
Ensembl chrNW_004955445:11,931,200...11,975,660 		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 chrNW_004955445:11,466,579...11,469,123
Ensembl chrNW_004955445:11,466,579...11,469,123 		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 chrNW_004955445:12,401,348...12,420,548
Ensembl chrNW_004955445:12,401,285...12,419,607 		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 chrNW_004955445:13,210,606...13,343,344
Ensembl chrNW_004955445:13,208,413...13,314,827 		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 chrNW_004955445:11,958,649...11,962,623
Ensembl chrNW_004955445:11,958,625...11,962,508 		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 chrNW_004955445:12,871,355...12,897,733
Ensembl chrNW_004955445:12,871,355...12,897,733 		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 chrNW_004955445:11,474,826...11,479,479
Ensembl chrNW_004955445:11,469,063...11,478,759 		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 chrNW_004955445:11,723,634...11,730,304
Ensembl chrNW_004955445:11,721,674...11,730,302 		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 chrNW_004955445:11,501,044...11,512,109
Ensembl chrNW_004955445:11,502,918...11,512,143 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 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 chrNW_004955445:12,279,799...12,284,819
Ensembl chrNW_004955445:12,279,799...12,283,506 		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 chrNW_004955445:11,666,987...11,682,180 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 chrNW_004955445:12,451,644...12,474,251
Ensembl chrNW_004955445:12,448,760...12,474,251 		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 chrNW_004955445:11,334,742...11,354,584
Ensembl chrNW_004955445:11,335,908...11,354,300 		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 chrNW_004955445:11,411,540...11,415,074
Ensembl chrNW_004955445:11,410,660...11,434,280 		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 chrNW_004955445:11,416,346...11,434,298
Ensembl chrNW_004955445:11,416,346...11,434,298 		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 chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497 		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 chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Werner syndrome ClinVar PMID:25741868 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Purg purine rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chrNW_004955463:7,460,533...7,495,106
Ensembl chrNW_004955463:7,460,533...7,494,354 		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 chrNW_004955463:7,495,243...7,633,532
Ensembl chrNW_004955463:7,525,100...7,633,596 		JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNHXorf65 chromosome unknown 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 chrNW_004955475:10,674,333...10,676,485
Ensembl chrNW_004955475:10,674,197...10,677,048 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910 		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 chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517 		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 chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857 		JBrowse link
G Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519 		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 chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724 		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 chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375 		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 chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338 		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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		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 chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576 		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 chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122 		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 chrNW_004955404:8,294,506...8,321,505
Ensembl chrNW_004955404:8,294,346...8,321,112 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chrNW_004955555:2,346,241...2,355,529
Ensembl chrNW_004955555:2,349,999...2,355,529 		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 chrNW_004955437:9,392,484...9,409,186
Ensembl chrNW_004955437:9,397,141...9,414,042 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO MouseDO NCBI chrNW_004955484:7,318,813...7,344,221
Ensembl chrNW_004955484:7,318,860...7,347,430 		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 chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		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 chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917 		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 chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		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 chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917 		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 chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		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 chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576 		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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		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 chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		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 chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		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 chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582 		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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chrNW_004955555:2,346,241...2,355,529
Ensembl chrNW_004955555:2,349,999...2,355,529 		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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		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 chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338 		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 chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122 		JBrowse link
G Mrtfb myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chrNW_004955442:4,542,700...4,733,646
Ensembl chrNW_004955442:4,547,829...4,733,724 		JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chrNW_004955442:4,255,726...4,421,083
Ensembl chrNW_004955442:4,258,692...4,422,197 		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 chrNW_004955404:8,294,506...8,321,505
Ensembl chrNW_004955404:8,294,346...8,321,112 		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 chrNW_004955437:9,392,484...9,409,186
Ensembl chrNW_004955437:9,397,141...9,414,042 		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 chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582 		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 chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    Nutritional and Metabolic Diseases 6994
      disease of metabolism 6994
        DNA Repair-Deficiency Disorders 1316
          Bloom syndrome 453
          Fanconi anemia + 103
          Li-Fraumeni syndrome + 66
          Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
          Lynch syndrome + 107
          N syndrome 0
          Nijmegen Breakage Syndrome-Like Disorder 1
          Nijmegen breakage syndrome + 7
          Rothmund-Thomson syndrome + 3
          Werner syndrome + 5
          ataxia telangiectasia + 93
          immunodeficiency 54 1
          severe combined immunodeficiency + 478
          xeroderma pigmentosum + 18
paths to the root