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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;   RDO:0001547
For additional species annotation, visit the Alliance of Genome Resources.


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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 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 Ada adenosine deaminase ISO OMIM NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745, PMID:21664875, PMID:24290284, PMID:24406074, PMID:26476733, PMID:26596586, PMID:28492532, PMID:30290665 NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Atm ATM serine/threonine kinase ISO OMIM 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 CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar PMID:2557216, PMID:3338800, PMID:6504056, PMID:7792600, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10706620, PMID:10738255, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11826028, PMID:11830610, PMID:11849780, PMID:11857346, PMID:11897822, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12646636, PMID:12655570, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12969974, PMID:14586414, PMID:14627829, PMID:14654357, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15101044, PMID:15159313, PMID:15174027, PMID:15279808, PMID:15390180, PMID:15696190, PMID:15756685, PMID:15843990, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16140923, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17910737, PMID:17968022, PMID:18066086, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18497957, PMID:18504682, PMID:18560558, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18807267, PMID:18813293, PMID:19018867, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19691550, PMID:19763152, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20346647, PMID:20480175, PMID:20840352, PMID:20945614, PMID:20966255, PMID:21150274, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21459046, PMID:21665257, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22146522, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22869595, PMID:22895193, PMID:22952040, PMID:22995991, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23585368, PMID:23585524, PMID:23632773, PMID:23640770, PMID:23667852, PMID:23671275, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24172824, PMID:24326041, PMID:24416720, PMID:24448499, PMID:24451234, PMID:24556621, PMID:24628946, PMID:24643969, PMID:24728327, PMID:24733792, PMID:24789685, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25182519, PMID:25186627, PMID:25232094, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25793145, PMID:25877891, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26022348, PMID:26053404, PMID:26094658, PMID:26182300, PMID:26206375, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26662178, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26898890, PMID:26901136, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27083775, PMID:27121310, PMID:27153395, PMID:27159176, PMID:27304073, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27479817, PMID:27498913, PMID:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31341520, PMID:31843900, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32566746, PMID:32860008 NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
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 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 Npat nuclear protein, ataxia-telangiectasia locus ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chrNW_004955412:10,377,814...10,422,753
Ensembl chrNW_004955412:10,379,132...10,422,497
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 OMIM NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO OMIM 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 PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15054841, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19535770, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301, PMID:30819809 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 PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301 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 OMIM 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 Blm BLM RecQ like helicase ISO OMIM NCBI chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687
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 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 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 Lig1 DNA ligase 1 ISO ClinVar Annotator: match by term: Dna ligase i deficiency ClinVar PMID:1351188, PMID:1581963, PMID:19223467 NCBI chrNW_004955609:118,442...160,009
Ensembl chrNW_004955609:126,278...160,063
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 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 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 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
Cerebrooculofacioskeletal 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: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
Cerebrooculofacioskeletal Syndrome 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: CEREBROOCULOFACIOSKELETAL SYNDROME 1 ClinVar PMID:24728327, PMID:25741868 NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO OMIM NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 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 OMIM NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO OMIM NCBI chrNW_004955404:8,294,506...8,321,505 JBrowse link
Cerebrooculofacioskeletal Syndrome 4 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 NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955555:2,389,569...2,393,410
Ensembl chrNW_004955555:2,391,106...2,393,369
JBrowse link
Cockayne 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 ClinVar Annotator: match by term: Cockayne syndrome ClinVar PMID:17273966, PMID:23623389 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 associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) RGD PMID:16904611 RGD:10401080 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 RGD PMID:19114557 RGD:10401087 NCBI chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chrNW_004955404:8,294,506...8,321,505 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
ClinVar Annotator: match by term: Progeroid nanism
ClinVar Annotator: match by term: Cockayne syndrome
DNA:insertion: :c.1034_1035insT (human)
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
RGD
ClinVar
CTD
PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:18446857, PMID:22466610, PMID:22466612, PMID:23599700, PMID:25440059, PMID:25463447, PMID:25741868, PMID:26972010, PMID:28492532, PMID:30311386 RGD:10401095, RGD:10401100, RGD:11567232 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chrNW_004955446:7,345,467...7,439,885 JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917
JBrowse link
Cockayne Syndrome A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome type A ClinVar PMID:14661080, PMID:19384974, PMID:19894250, PMID:20571988, PMID:21681106, PMID:21924235, PMID:22099533, PMID:27597947, PMID:28492532, PMID:29572252 NCBI chrNW_004955446:7,345,467...7,439,885 JBrowse link
Cockayne Syndrome B 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 OMIM NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar PMID:8810255, PMID:25739914, PMID:28492532 NCBI chrNW_004955422:9,804,012...9,867,580
Ensembl chrNW_004955422:9,804,075...9,851,434
JBrowse link
G Rag1 recombination activating 1 ISO OMIM 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 OMIM NCBI chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732
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:28492532 NCBI chrNW_004955493:6,904,931...6,910,682 JBrowse link
G Coro1a coronin 1A ISO OMIM NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004955493:6,876,943...6,883,716
Ensembl chrNW_004955493:6,877,486...6,883,698
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Ppp4c protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004955493:6,894,849...6,901,344
Ensembl chrNW_004955493:6,894,849...6,901,344
JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chrNW_004955443:7,227,751...7,269,984
Ensembl chrNW_004955443:7,227,751...7,264,821
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004955493:6,888,832...6,894,840
Ensembl chrNW_004955493:6,888,832...6,894,831
JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 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 OMIM 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 Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:11050007, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:17924555, PMID:20869034, PMID:21520333, PMID:22720145, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:32566746 NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Brca2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
RGD
ClinVar
PMID:9971877, PMID:11030417, PMID:11185744, PMID:12065746, PMID:12491487, PMID:12955716, PMID:12960223, PMID:15026808, PMID:15070707, PMID:15635067, PMID:15645491, PMID:15876480, PMID:16825431, PMID:17924331, PMID:17972177, PMID:18284688, PMID:18431501, PMID:18627636, PMID:18779604, PMID:19043619, PMID:20104584, PMID:20127978, PMID:20927582, PMID:21120943, PMID:21218378, PMID:21523855, PMID:21548014, PMID:21702907, PMID:21719596, PMID:21990134, PMID:22009639, PMID:22034289, PMID:22126563, PMID:22228431, PMID:22293751, PMID:22486713, PMID:22874498, PMID:23555315, PMID:23704879, PMID:23893897, PMID:24033266, PMID:24055113, PMID:24123850, PMID:24728327, PMID:25085752, PMID:25525159, PMID:25637381, PMID:25682074, PMID:25741868, PMID:26295337, PMID:26296701, PMID:26467025, PMID:26689913, PMID:26834852, PMID:26920070, PMID:27376475, PMID:28222693, PMID:28492532, PMID:28831036, PMID:29394989, PMID:29753700, PMID:29884841, PMID:30254663, PMID:31131967 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 protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 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:28492532 NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
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, complementation group A
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1792455, PMID:2472832, PMID:8502512, PMID:08896563, PMID:9371798, PMID:09399890, PMID:9711872, PMID:9721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11110674, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12827451, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16015582, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16445838, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:19423727, PMID:21273304, PMID:21279724, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22482891, PMID:22720145, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24689079, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25239263, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25703136, PMID:25741868, PMID:25751062, PMID:26136524, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26689913, PMID:26740942, PMID:26799702, PMID:26841305, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28687356, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29797310, PMID:29904161, PMID:30031030, PMID:30032139, PMID:30086788, PMID:30311386 RGD:11344899, RGD:11344914, RGD:11344919 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's anemia
ClinVar PMID:24033266, 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 onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1574115, PMID:1641028, PMID:7492758, PMID:7689011, PMID:8081385, PMID:8103176, PMID:8128956, PMID:08348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10666230, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21520333, PMID:21659346, PMID:22482891, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551, PMID:32566746 RGD:11041907, 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 DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11239453, PMID:14667412, PMID:17308347, PMID:17436244, PMID:19287902, PMID:21356188, PMID:22720145, PMID:22828868, PMID:23613520, PMID:24033266, PMID:24728327, PMID:25703294, PMID:25741868, PMID:27041517, PMID:28202063, PMID:28492532, PMID:28678401 RGD:11344904, RGD:1601137 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 PMID:24728327, PMID:25741868, PMID:28492532 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 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 PMID:9382107, PMID:10615118, PMID:15262960, PMID:16084127, PMID:17924555, PMID:24728327, PMID:25741868, PMID:26033879, PMID:27714961, PMID:28102861, PMID:28492532 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 FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9806458, PMID:9806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24033266, PMID:24136620, PMID:24584348, PMID:24728327, PMID:25703136, PMID:25741868, PMID:26689913, PMID:26968956, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:30031030 RGD:1599879 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 DNA:mutations: :multiple
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
RGD
ClinVar
PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452773, PMID:17460694, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:22720145, PMID:23613520, PMID:23783014, PMID:24033266, PMID:24989076, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26296701, PMID:26467025, PMID:26590883, PMID:28492532, PMID:28678401, PMID:28878254, PMID:29439820 RGD:11344925 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:12973351, PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26149689, PMID:26822237, PMID:26822949, PMID:27153395, PMID:27986371, PMID:28492532, PMID:29335925, PMID:30995915, PMID:31300551 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:2867840, PMID:16116422, PMID:17289582, PMID:18174376, PMID:18414213, PMID:19379763, PMID:19737859, PMID:19763152, PMID:20307669, PMID:21681190, PMID:22406018, PMID:23932590, PMID:24003026, PMID:25288723, PMID:25741868, PMID:26067930, PMID:26094658, PMID:26130695, PMID:26296701, PMID:26483394, PMID:26689913, PMID:26740942, PMID:26822949, PMID:28033443, PMID:28492532, PMID:28678401, PMID:28702895, PMID:28837157, PMID:28837162, PMID:28881617, PMID:29231814, PMID:29287190, PMID:29351780, PMID:29895858, PMID:30075111, PMID:30426508, PMID:30995915, PMID:31700994, PMID:32566746 NCBI chrNW_004955409:16,751,658...16,809,352 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 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 Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668, PMID:18302019, PMID:25741868, PMID:26467025, PMID:26564480, PMID:28492532 NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 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 Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:20400963, PMID:20400964, PMID:20697805, PMID:20723205, PMID:21537932, PMID:21750962, PMID:21980511, PMID:21990120, PMID:22167183, PMID:22370629, PMID:22451500, PMID:22476429, PMID:22725699, PMID:23117857, PMID:24082139, PMID:24504028, PMID:25086635, PMID:25470109, PMID:25741868, PMID:26057125, PMID:26261251, PMID:26406419, PMID:26467025, PMID:26483394, PMID:26740214, PMID:27153395, PMID:28492532 NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:19596235, PMID:19596236, PMID:21240275, PMID:21240276, PMID:21240277, PMID:21805310, PMID:22383991, PMID:22401137, PMID:22911665, PMID:23211700, PMID:23840564, PMID:24037726, PMID:24763404, PMID:25288723, PMID:25326635, PMID:25741868, PMID:26201965, PMID:26824983, PMID:28125078, PMID:28202063, PMID:28492532, PMID:28678401, PMID:28717660, PMID:29868112 NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314
JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, 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: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 Vcp valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955561:1,573,525...1,578,295 JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 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: Fanconi anemia ClinVar PMID:9371798, PMID:9721219, PMID:10090479, PMID:10094191, PMID:10521298, PMID:11091222, PMID:12444097, PMID:15059067, PMID:15523645, PMID:15643609, PMID:16084127, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:21273304, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26296701, PMID:26689913, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:28767289, PMID:29098742, PMID:29904161, PMID:30032139 NCBI chrNW_004955541:3,259,945...3,272,990
Ensembl chrNW_004955541:3,259,479...3,272,666
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:08844212, PMID:12670332, PMID:15695377, PMID:24728327, PMID:25741868, PMID:26689913, PMID:28492532, PMID:30031030, PMID:32566746 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:17308087, PMID:17574969, PMID:17924331, PMID:19200354, PMID:19563646, PMID:20516115, PMID:21324516, PMID:21356067, PMID:21473589, PMID:21702907, PMID:21965345, PMID:21990134, PMID:22889855, PMID:23867111, PMID:24055113, PMID:24569164, PMID:25472942, PMID:25741868, PMID:26467025, PMID:28265380, PMID:28324225, PMID:28477318, PMID:28492532, PMID:28724667, PMID:28831036, PMID:29712865, PMID:30103829 NCBI chrNW_004955451:16,819,463...16,870,780 JBrowse link
G Fanca FA complementation group A ISO OMIM 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, complementation 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, PMID:09616183, PMID:12670332, PMID:14695169, PMID:14726700, PMID:15695377, PMID:23028338, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26689913, PMID:26740942, PMID:27153395, PMID:28492532, PMID:28767289, PMID:30031030, PMID:32566746 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:28492532 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 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: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 PMID:19405097, PMID:21279724, PMID:25741868, PMID:26822237, PMID:26822949, PMID:28492532 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, PMID:25288723, PMID:25741868, PMID:28492532, PMID:28837162, PMID:29231814, PMID:29351780, PMID:30075111, PMID:31700994 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 PMID:22401137, PMID:22911665, PMID:23211700, PMID:23840564, PMID:25741868, PMID:26201965, PMID:28202063, PMID:28492532, PMID:28717660 NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:19405097, PMID:21279724, PMID:25741868, PMID:26822237, PMID:26822949, PMID:28492532 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: Fanconi anemia, complementation group A ClinVar PMID:9371798, PMID:09399890, PMID:09721219, PMID:10090479, PMID:10094191, PMID:10521298, PMID:11091222, PMID:12444097, PMID:12955722, PMID:15059067, PMID:15522956, PMID:15523645, PMID:15643609, PMID:16084127, PMID:17924555, PMID:18414213, PMID:19109555, PMID:19139070, PMID:19278965, PMID:19367192, PMID:21273304, PMID:22778927, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:26296701, PMID:26689913, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:28767289, PMID:28864460, PMID:29098742, PMID:29904161, PMID:30032139 NCBI chrNW_004955541:3,259,945...3,272,990
Ensembl chrNW_004955541:3,259,479...3,272,666
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 OMIM 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: Fanconi anemia, complementation group C ClinVar PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:10431244, PMID:11050007, PMID:12093742, PMID:12670332, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17924555, PMID:19278965, PMID:20869034, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997 NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Fancc FA complementation group C ISO OMIM 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 OMIM 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 Fancd2 FA complementation group D2 ISO OMIM 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:11239453, PMID:16280053, PMID:17436244, PMID:23613520, PMID:24728327, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
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 OMIM 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 OMIM 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 OMIM 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:28492532 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 OMIM 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:22778927, PMID:23524600, PMID:25741868, PMID:26467025, PMID:27987238, PMID:28492532 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 protein C-terminal helicase 1 ISO OMIM 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 OMIM 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:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 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 OMIM 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 ISO OMIM 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 Rad51c RAD51 paralog C ISO OMIM NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487
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 OMIM 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 OMIM 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 OMIM 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 OMIM NCBI chrNW_004955451:16,819,463...16,870,780 JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube2t ubiquitin conjugating enzyme E2 T ISO OMIM 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 OMIM 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 OMIM 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 OMIM 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 Mlh1 mutL homolog 1 ISO OMIM NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
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 Pms2 PMS1 homolog 2, mismatch repair system component ISO OMIM NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 4 ClinVar PMID:7795591, PMID:12541220, PMID:14722923, PMID:15884040, PMID:16343894 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: Hereditary nonpolyposis colorectal cancer type 5 ClinVar PMID:19250818, PMID:24689082, PMID:26467025 NCBI chrNW_004955441:14,471,283...14,495,508
Ensembl chrNW_004955441:14,471,283...14,553,916
JBrowse link
G Msh6 mutS homolog 6 ISO OMIM NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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 OMIM 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: MLH3-Related Lynch Syndrome ClinVar PMID:12702580, PMID:17656264, PMID:22290698, PMID:28492532 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: Hereditary nonpolyposis colorectal cancer type 7 ClinVar NCBI chrNW_004955523:553,356...559,376
Ensembl chrNW_004955523:553,356...559,376
JBrowse link
G Mlh3 mutL homolog 3 ISO OMIM 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 OMIM 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 OMIM 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 Card11 caspase recruitment domain family member 11 ISO OMIM NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO OMIM NCBI chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647
JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,718,534...19,750,340
Ensembl chrNW_004955412:19,718,132...19,753,361
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,555,736...19,563,094 JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,029,988...20,059,057
Ensembl chrNW_004955412:20,029,988...20,059,057
JBrowse link
G Cd3d CD3d molecule ISO OMIM 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: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: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 NCBI chrNW_004955412:20,113,844...20,126,783
Ensembl chrNW_004955412:20,113,375...20,126,656
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 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:28492532 NCBI chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,096,633...20,108,344
Ensembl chrNW_004955412:20,087,575...20,109,060
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 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:28492532 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:28492532 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:28492532 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:28492532 NCBI chrNW_004955412:19,586,435...19,670,149 JBrowse link
G LOC102025775 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203
JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 NCBI chrNW_004955412:19,402,064...19,420,431
Ensembl chrNW_004955412:19,402,064...19,420,431
JBrowse link
G Phldb1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,754,997...19,800,984
Ensembl chrNW_004955412:19,756,379...19,800,984
JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,126,769...20,129,071 JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 NCBI chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004955412:19,690,048...19,695,258
Ensembl chrNW_004955412:19,690,048...19,695,258
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 NCBI chrNW_004955412:19,801,153...19,815,394
Ensembl chrNW_004955412:19,801,376...19,814,305
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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:28492532 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:28492532 NCBI chrNW_004955412:20,086,991...20,089,062
Ensembl chrNW_004955412:20,084,801...20,089,289
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 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 OMIM 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 OMIM NCBI chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254
JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO OMIM NCBI chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867
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 OMIM NCBI chrNW_004955470:4,379,260...4,397,851
Ensembl chrNW_004955470:4,386,311...4,396,419
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 OMIM 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 Orai1 ORAI calcium release-activated calcium modulator 1 ISO OMIM NCBI chrNW_004955482:6,731,949...6,746,095
Ensembl chrNW_004955482:6,731,949...6,775,545
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 OMIM 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 Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,766,322...8,769,169 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:23172776, PMID:26681312, PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Li-Fraumeni syndrome
CTD
ClinVar
PMID:10617473, PMID:11053450, PMID:11298456, PMID:11390408, PMID:11479205, PMID:11571648, PMID:11719428, PMID:11901158, PMID:11967536, PMID:12049740, PMID:12094328, PMID:12533788, PMID:12610780, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15239132, PMID:15488637, PMID:15492928, PMID:15520402, PMID:15535844, PMID:16257342, PMID:16492927, PMID:16880452, PMID:16982735, PMID:17085682, PMID:17721994, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22114986, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23334666, PMID:23469205, PMID:24033266, PMID:24549055, PMID:24728327, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:26898890, PMID:27067391, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28724667, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29146883, PMID:29351919, PMID:29356917, PMID:29479983, PMID:29489754, PMID:29520813, PMID:29684080, PMID:29909963, PMID:30311386, PMID:30851065, PMID:30967556 NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
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:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165
JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759
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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977
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:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182
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:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,618,572...8,628,857
Ensembl chrNW_004955467:8,618,579...8,622,870
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834
JBrowse link
G Tp53 tumor protein p53 ISO DNA:missense mutations
ClinVar Annotator: match by term: Li-Fraumeni syndrome
ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:887414, PMID:920706, PMID:1349102, PMID:1349175, PMID:1359493, PMID:1394133, PMID:1467311, PMID:1552135, PMID:1559227, PMID:1562462, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1581912, PMID:1591732, PMID:1631137, PMID:1631151, PMID:1644930, PMID:1672732, PMID:1673792, PMID:1679237, PMID:1683921, PMID:1686725, PMID:1737852, PMID:1849234, PMID:1915267, PMID:1918170, PMID:1933902, PMID:1975675, PMID:1978757, PMID:1999338, PMID:2046748, PMID:2113594, PMID:2134334, PMID:2259385, PMID:2531845, PMID:2554494, PMID:2750177, PMID:2802540, PMID:2826609, PMID:7565304, PMID:7599045, PMID:7651740, PMID:7664239, PMID:7669577, PMID:7700647, PMID:7706467, PMID:7707106, PMID:7732013, PMID:7750099, PMID:7761089, PMID:7783166, PMID:7791795, PMID:7796267, PMID:7881428, PMID:7887414, PMID:7936651, PMID:7955036, PMID:7966399, PMID:7969167, PMID:7978053, PMID:7981076, PMID:8012986, PMID:8023157, PMID:8062826, PMID:8075648, PMID:8080050, PMID:8099841, PMID:8102535, PMID:8118819, PMID:8134126, PMID:8134127, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8242631, PMID:8242752, PMID:8308926, PMID:8336941, PMID:8352280, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479743, PMID:8479749, PMID:8527048, PMID:8550239, PMID:8633021, PMID:8639798, PMID:8649785, PMID:8675009, PMID:8688334, PMID:8700525, PMID:8710380, PMID:8718514, PMID:8756654, PMID:8825920, PMID:8829627, PMID:9020384, PMID:9047394, PMID:9049183, PMID:9067756, PMID:9096669, PMID:9115587, PMID:9150393, PMID:9157982, PMID:9207066, PMID:9218725, PMID:9242456, PMID:9285560, PMID:9290701, PMID:9301461, PMID:9364015, PMID:9367778, PMID:9405613, PMID:9407971, PMID:9446663, PMID:9452042, PMID:9470817, PMID:9472631, PMID:9482117, PMID:9524109, PMID:9525742, PMID:9546439, PMID:9569035, PMID:9569050, PMID:9572492, PMID:9582268, PMID:9598730, PMID:9607760, PMID:9627118, PMID:9632751, PMID:9635828, PMID:9662334, PMID:9667734, PMID:9681828, PMID:9704930, PMID:9704931, PMID:9723024, PMID:9766574, PMID:9792154, PMID:9825943, PMID:9839505, PMID:9865903, PMID:9891044, PMID:10064694, PMID:10206274, PMID:10229196, PMID:10329187, PMID:10389749, PMID:10408787, PMID:10411893, PMID:10432928, PMID:10435620, PMID:10486243, PMID:10486318, PMID:10497279, PMID:10507764, PMID:10519380, PMID:10519384, PMID:10554037, PMID:10557074, PMID:10567903, PMID:10589545, PMID:10616528, PMID:10629033, PMID:10653977, PMID:10654936, PMID:10697617, PMID:10706125, PMID:10713666, PMID:10719737, PMID:10753186, PMID:10754498, PMID:10761705, PMID:10777217, PMID:10780666, PMID:10797439, PMID:10802655, PMID:10811497, PMID:10854221, PMID:10864200, PMID:10871862, PMID:10914716, PMID:10922393, PMID:10949938, PMID:10980596, PMID:11040944, PMID:11051239, PMID:11051241, PMID:11101847, PMID:11124955, PMID:11139324, PMID:11161397, PMID:11180592, PMID:11222779, PMID:11229518, PMID:11238924, PMID:11285227, PMID:11313981, PMID:11315715, PMID:11332399, PMID:11358831, PMID:11359905, PMID:11370630, PMID:11391594, PMID:11403041, PMID:11420672, PMID:11420676, PMID:11423991, PMID:11429700, PMID:11429705, PMID:11453810, PMID:11479205, PMID:11481490, PMID:11494139, PMID:11518751, PMID:11590071, PMID:11593407, PMID:11600572, PMID:11668476, PMID:11715068, PMID:11753428, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11900253, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12019170, PMID:12034820, PMID:12067251, PMID:12070601, PMID:12076704, PMID:12124823, PMID:12209975, PMID:12406399, PMID:12433927, PMID:12509279, PMID:12509970, PMID:12524418, PMID:12567188, PMID:12610779, PMID:12619118, PMID:12672316, PMID:12695689, PMID:12700230, PMID:12702523, PMID:12716906, PMID:12725534, PMID:12726864, PMID:12759621, PMID:12779080, PMID:12792784, PMID:12826609, PMID:12885464, PMID:12901974, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14612556, PMID:14656244, PMID:14670539, PMID:14673037, PMID:14695212, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15060172, PMID:15077194, PMID:15095302, PMID:15121773, PMID:15138567, PMID:15161705, PMID:15173255, PMID:15192123, PMID:15221755, PMID:15308588, PMID:15342977, PMID:15355915, PMID:15381368, PMID:15390294, PMID:15489903, PMID:15523690, PMID:15541116, PMID:15548685, PMID:15564800, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15611070, PMID:15630097, PMID:15654279, PMID:15659650, PMID:15703170, PMID:15722483, PMID:15741269, PMID:15756275, PMID:15781620, PMID:15781632, PMID:15784129, PMID:15825182, PMID:15850016, PMID:15851479, PMID:15925506, PMID:15951970, PMID:15964795, PMID:15977174, PMID:15982667, PMID:15993273, PMID:16000567, PMID:16007150, PMID:16033918, PMID:16061860, PMID:16199549, PMID:16204849, PMID:16209708, PMID:16258005, PMID:16288208, PMID:16312222, PMID:16322298, PMID:16333835, PMID:16337994, PMID:16401470, PMID:16437140, PMID:16474844, PMID:16477330, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16522644, PMID:16534790, PMID:16551709, PMID:16596195, PMID:16633321, PMID:16644204, PMID:16682957, PMID:16687402, PMID:16707427, PMID:16736287, PMID:16741917, PMID:16778209, PMID:16793544, PMID:16818505, PMID:16818665, PMID:16821082, PMID:16827139, PMID:16861262, PMID:16907706, PMID:16941491, PMID:16964264, PMID:16969106, PMID:17002294, PMID:17015838, PMID:17133269, PMID:17170001, PMID:17189187, PMID:17224074, PMID:17224268, PMID:17289876, PMID:17301252, PMID:17308077, PMID:17311302, PMID:17318340, PMID:17390010, PMID:17401428, PMID:17401432, PMID:17417627, PMID:17417775, PMID:17427234, PMID:17436385, PMID:17530187, PMID:17535973, PMID:17540308, PMID:17541742, PMID:17557566, PMID:17567834, PMID:17572079, PMID:17599946, PMID:17606709, PMID:17636407, PMID:17638920, PMID:17683073, PMID:17690113, PMID:17724467, PMID:17727479, PMID:17875924, PMID:17903248, PMID:17947339, PMID:17977830, PMID:17982662, PMID:18037961, PMID:18199664, PMID:18208484, PMID:18248785, PMID:18307025, PMID:18348285, PMID:18348286, PMID:18357466, PMID:18391940, PMID:18393224, PMID:18413811, PMID:18453682, PMID:18477611, PMID:18489080, PMID:18511570, PMID:18555592, PMID:18575712, PMID:18580489, PMID:18628487, PMID:18685109, PMID:18762572, PMID:18798306, PMID:18818522, PMID:18923929, PMID:18978813, PMID:18989156, PMID:19012332, PMID:19052714, PMID:19101993, PMID:19127094, PMID:19127115, PMID:19147582, PMID:19160491, PMID:19165225, PMID:19171880, PMID:19224462, PMID:19336573, PMID:19367287, PMID:19367569, PMID:19378321, PMID:19405127, PMID:19416725, PMID:19454241, PMID:19462533, PMID:19468865, PMID:19509155, PMID:19521721, PMID:19523860, PMID:19556618, PMID:19558493, PMID:19671856, PMID:19681600, PMID:19711436, PMID:19714488, PMID:19714490, PMID:19717094, PMID:19756158, PMID:19759556, PMID:19763152, PMID:19786980, PMID:19806023, PMID:19834951, PMID:19850740, PMID:19877175, PMID:19881536, PMID:19909015, PMID:19913028, PMID:19930417, PMID:19933256, PMID:19958544, PMID:20010306, PMID:20013323, PMID:20017945, PMID:20025891, PMID:20028212, PMID:20113312, PMID:20118236, PMID:20127978, PMID:20128691, PMID:20182602, PMID:20195489, PMID:20198344, PMID:20234365, PMID:20301488, PMID:20307669, PMID:20308654, PMID:20364130, PMID:20407015, PMID:20421238, PMID:20436704, PMID:20443084, PMID:20449797, PMID:20455025, PMID:20471942, PMID:20478780, PMID:20504876, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20520810, PMID:20522432, PMID:20538734, PMID:20575032, PMID:20634494, PMID:20638924, PMID:20658636, PMID:20689556, PMID:20693561, PMID:20805372, PMID:20878954, PMID:20932800, PMID:20967502, PMID:20972454, PMID:20978130, PMID:21056402, PMID:21056685, PMID:21059199, PMID:21080251, PMID:21115975, PMID:21118481, PMID:21159183, PMID:21187651, PMID:21192060, PMID:21225465, PMID:21232794, PMID:21288114, PMID:21305319, PMID:21319261, PMID:21339461, PMID:21343334, PMID:21345075, PMID:21348412, PMID:21348641, PMID:21356188, PMID:21380628, PMID:21445056, PMID:21464421, PMID:21470402, PMID:21483000, PMID:21484931, PMID:21488255, PMID:21512767, PMID:21514416, PMID:21519010, PMID:21520333, PMID:21522129, PMID:21528875, PMID:21535297, PMID:21546086, PMID:21552135, PMID:21561095, PMID:21601526, PMID:21619694, PMID:21621601, PMID:21626334, PMID:21637529, PMID:21665182, PMID:21666498, PMID:21672450, PMID:21674059, PMID:21747090, PMID:21760960, PMID:21760996, PMID:21761402, PMID:21763698, PMID:21900752, PMID:21901162, PMID:21904608, PMID:21934104, PMID:21953469, PMID:22006311, PMID:22040862, PMID:22052707, PMID:22090360, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22170717, PMID:22178617, PMID:22186996, PMID:22187033, PMID:22188361, PMID:22198284, PMID:22203015, PMID:22228431, PMID:22233476, PMID:22265402, PMID:22319594, PMID:22354696, PMID:22356895, PMID:22373952, PMID:22406018, PMID:22427690, PMID:22495821, PMID:22507745, PMID:22540896, PMID:22551440, PMID:22571758, PMID:22652532, PMID:22653678, PMID:22672556, PMID:22698404, PMID:22703879, PMID:22710932, PMID:22713868, PMID:22722193, PMID:22729912, PMID:22744426, PMID:22768918, PMID:22797305, PMID:22811390, PMID:22829111, PMID:22844452, PMID:22847613, PMID:22851211, PMID:22862161, PMID:22866089, PMID:22877736, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22923433, PMID:22949826, PMID:22983585, PMID:22989750, PMID:22992668, PMID:22999923, PMID:23031740, PMID:23117049, PMID:23124483, PMID:23149933, PMID:23161690, PMID:23165212, PMID:23172776, PMID:23175693, PMID:23196062, PMID:23200980, PMID:23246812, PMID:23255406, PMID:23259501, PMID:23263379, PMID:23264849, PMID:23265383, PMID:23297687, PMID:23315175, PMID:23334666, PMID:23334668, PMID:23340422, PMID:23355100, PMID:23359294, PMID:23403321, PMID:23406775, PMID:23409989, PMID:23469205, PMID:23484829, PMID:23525797, PMID:23531339, PMID:23538418, PMID:23555315, PMID:23570263, PMID:23580068, PMID:23612572, PMID:23612969, PMID:23624782, PMID:23625637, PMID:23630318, PMID:23639785, PMID:23665223, PMID:23667202, PMID:23667851, PMID:23713777, PMID:23733769, PMID:23792586, PMID:23887774, PMID:23894400, PMID:23897043, PMID:23950206, PMID:23967324, PMID:23973262, PMID:23981578, PMID:24009708, PMID:24033266, PMID:24038938, PMID:24076587, PMID:24113472, PMID:24122735, PMID:24198462, PMID:24218030, PMID:24256616, PMID:24278325, PMID:24307375, PMID:24326041, PMID:24336192, PMID:24373500, PMID:24381225, PMID:24382691, PMID:24384472, PMID:24395441, PMID:24448499, PMID:24451277, PMID:24487276, PMID:24487413, PMID:24501221, PMID:24549055, PMID:24556621, PMID:24573247, PMID:24590827, PMID:24594805, PMID:24603336, PMID:24630730, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24663046, PMID:24665023, PMID:24677579, PMID:24682512, PMID:24700732, PMID:24702488, PMID:24724063, PMID:24728327, PMID:24729566, PMID:24733378, PMID:24763289, PMID:24764719, PMID:24766216, PMID:24797764, PMID:24803582, PMID:24810334, PMID:24813712, PMID:24814347, PMID:24835218, PMID:24835311, PMID:24853176, PMID:24868540, PMID:24884479, PMID:24896186, PMID:24908601, PMID:24916180, PMID:24929325, PMID:24936644, PMID:24940547, PMID:24952744, PMID:25034526, PMID:25047674, PMID:25056374, PMID:25074920, PMID:25119136, PMID:25122428, PMID:25123297, PMID:25149524, PMID:25157968, PMID:25169539, PMID:25184754, PMID:25186627, PMID:25226867, PMID:25234657, PMID:25293557, PMID:25294809, PMID:25299233, PMID:25303977, PMID:25318351, PMID:25326637, PMID:25339039, PMID:25339994, PMID:25348012, PMID:25365311, PMID:25374282, PMID:25428789, PMID:25433984, PMID:25452441, PMID:25460562, PMID:25490274, PMID:25490678, PMID:25503501, PMID:25504633, PMID:25512523, PMID:25516983, PMID:25525159, PMID:25527155, PMID:25544776, PMID:25564201, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25589003, PMID:25612911, PMID:25619955, PMID:25634010, PMID:25634208, PMID:25637381, PMID:25669829, PMID:25691460, PMID:25741868, PMID:25742471, PMID:25757876, PMID:25762628, PMID:25787918, PMID:25794615, PMID:25846456, PMID:25856671, PMID:25860607, PMID:25881545, PMID:25886176, PMID:25896519, PMID:25923920, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:25980754, PMID:25981898, PMID:26000489, PMID:26010451, PMID:26014290, PMID:26024390, PMID:26029016, PMID:26086041, PMID:26094658, PMID:26181206, PMID:26200271, PMID:26205489, PMID:26206375, PMID:26225655, PMID:26230955, PMID:26270727, PMID:26332594, PMID:26367797, PMID:26425688, PMID:26447779, PMID:26452166, PMID:26467025, PMID:26475379, PMID:26484312, PMID:26497680, PMID:26527317, PMID:26534844, PMID:26554828, PMID:26556299, PMID:26572807, PMID:26580448, PMID:26585234, PMID:26619011, PMID:26628864, PMID:26641009, PMID:26659639, PMID:26681051, PMID:26681312, PMID:26681682, PMID:26690524, PMID:26696550, PMID:26718964, PMID:26743472, PMID:26781615, PMID:26786923, PMID:26787237, PMID:26818906, PMID:26822237, PMID:26837699, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27034505, PMID:27059324, PMID:27077130, PMID:27091190, PMID:27101868, PMID:27146902, PMID:27150160, PMID:27153395, PMID:27157322, PMID:27179933, PMID:27189670, PMID:27194209, PMID:27210295, PMID:27223487, PMID:27242894, PMID:27267833, PMID:27276561, PMID:27276934, PMID:27297285, PMID:27328919, PMID:27374712, PMID:27391063, PMID:27443514, PMID:27443517, PMID:27449771, PMID:27463065, PMID:27484708, PMID:27489289, PMID:27493922, PMID:27496084, PMID:27501770, PMID:27516001, PMID:27523101, PMID:27533082, PMID:27545002, PMID:27616075, PMID:27619989, PMID:27621308, PMID:27622479, PMID:27626311, PMID:27657329, PMID:27662657, PMID:27663983, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27726232, PMID:27741277, PMID:27785980, PMID:27834926, PMID:27866339, PMID:27895058, PMID:27911860, PMID:27923552, PMID:27959731, PMID:27978560, PMID:28025407, PMID:28091804, PMID:28125078, PMID:28135145, PMID:28152038, PMID:28199989, PMID:28202063, PMID:28222664, PMID:28230820, PMID:28234344, PMID:28255015, PMID:28279309, PMID:28288110, PMID:28349240, PMID:28369373, PMID:28408749, PMID:28452373, PMID:28453743, PMID:28472496, PMID:28475293, PMID:28476805, PMID:28477316, PMID:28477317, PMID:28486781, PMID:28492532, PMID:28499267, PMID:28503720, PMID:28528518, PMID:28573494, PMID:28649645, PMID:28664506, PMID:28681140, PMID:28724667, PMID:28744014, PMID:28772286, PMID:28819011, PMID:28826481, PMID:28843361, PMID:28861920, PMID:28902083, PMID:28915717, PMID:28961279, PMID:28975465, PMID:29025599, PMID:29056573, PMID:29070607, PMID:29079597, PMID:29126202, PMID:29170254, PMID:29225734, PMID:29247016, PMID:29300620, PMID:29324801, PMID:29338689, PMID:29348365, PMID:29360161, PMID:29365323, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29522266, PMID:29667044, PMID:29752822, PMID:29753700, PMID:29769598, PMID:29770616, PMID:29774081, PMID:29785153, PMID:29936259, PMID:29945567, PMID:29946497, PMID:29955864, PMID:29958926, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30092803, PMID:30107858, PMID:30128536, PMID:30181807, PMID:30190792, PMID:30212483, PMID:30216591, PMID:30224644, PMID:30256826, PMID:30287823, PMID:30297838, PMID:30306255, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30374176, PMID:30450585, PMID:30588330, PMID:30607672, PMID:30630526, PMID:30709381, PMID:30709875, PMID:30720243, PMID:30840781, PMID:30883245, PMID:31016814, PMID:31081129, PMID:31105275, PMID:31159747, PMID:31235699, PMID:31422574, PMID:31775759, PMID:32566746 RGD:2290542 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 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,010,936...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:23172776, PMID:26681312, PMID:28492532 NCBI 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 PMID:9242456, PMID:17683073, PMID:18511570, PMID:20522432, PMID:21056402, PMID:23172776, PMID:24033266, PMID:25741868, PMID:25762628, PMID:26681312, PMID:28492532 NCBI chrNW_004955467:9,225,506...9,240,756 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:25741868, PMID:28492532 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 OMIM 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 OMIM 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 Annotator: match by term: Li-fraumeni-like syndrome
ClinVar PMID:1349175, PMID:1565143, PMID:1565144, PMID:1591732, PMID:1679237, PMID:2531845, PMID:2554494, PMID:7565304, PMID:7783166, PMID:7791795, PMID:8023157, PMID:8134127, PMID:8164043, PMID:8401536, PMID:8550239, PMID:8718514, PMID:8829627, PMID:9218725, PMID:9242456, PMID:9364015, PMID:9667734, PMID:9839505, PMID:10519380, PMID:10922393, PMID:11370630, PMID:11429705, PMID:12726864, PMID:12826609, PMID:12885464, PMID:12917626, PMID:15722483, PMID:15925506, PMID:15951970, PMID:16401470, PMID:16494995, PMID:16551709, PMID:17015838, PMID:17311302, PMID:17606709, PMID:18511570, PMID:19012332, PMID:19468865, PMID:19930417, PMID:20128691, PMID:20407015, PMID:20522432, PMID:20805372, PMID:21059199, PMID:21305319, PMID:21343334, PMID:21761402, PMID:22672556, PMID:23161690, PMID:23538418, PMID:24033266, PMID:24122735, PMID:24573247, PMID:24835218, PMID:25157968, PMID:25584008, PMID:25619955, PMID:25741868, PMID:25896519, PMID:26014290, PMID:26205489, PMID:26225655, PMID:26619011, PMID:26786923, PMID:26845104, PMID:26878390, PMID:26911350, PMID:27077130, PMID:27276934, PMID:27621308, PMID:28369373, PMID:28472496, PMID:28492532, PMID:28975465 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 Fam189a1 family with sequence similarity 189 member A1 ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome ClinVar PMID:20864041, PMID:27427983 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 OMIM 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 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar PMID:17453009, PMID:18602922, PMID:20186688 NCBI chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726
JBrowse link
G Ankrd61 ankyrin repeat domain 61 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer ClinVar PMID:17453009, PMID:18602922, PMID:20186688, PMID:20205264, PMID:20487569, PMID:22577899, PMID:23837913, PMID:25856668, PMID:26895986, PMID:30877237 NCBI chrNW_004955460:13,744,482...13,748,863
Ensembl chrNW_004955460:13,744,473...13,748,004
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 Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chrNW_004955422:11,106,061...11,189,951 JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer ClinVar PMID:17453009, PMID:18602922, PMID:20186688, PMID:20205264, PMID:20487569, PMID:22577899, PMID:23837913, PMID:25856668, PMID:26895986, PMID:30877237 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: Lynch syndrome ClinVar PMID:25741868 NCBI chrNW_004955523:553,356...559,376
Ensembl chrNW_004955523:553,356...559,376
JBrowse link
G Epcam epithelial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Lynch syndrome
CTD
ClinVar
PMID:19177550, PMID:21145788, PMID:21227399, PMID:22243433, PMID:23264089, PMID:23938213, PMID:24033266, PMID:25637381, PMID:25701956, PMID:25741868, PMID:28492532, PMID:30374176 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: Lynch syndrome ClinVar NCBI chrNW_004955421:3,882,486...3,889,851
Ensembl chrNW_004955421:3,888,007...3,889,833
JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004955441:14,471,283...14,495,508
Ensembl chrNW_004955441:14,471,283...14,553,916
JBrowse link
G Lrrfip2 LRR binding FLII interacting protein 2 ISO ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar PMID:12658575, PMID:14635101, PMID:15713769, PMID:16143124, PMID:18556772, PMID:18566915, PMID:19690142, PMID:21348412, PMID:26681312, PMID:28135145 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 DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:16, PMID:1522200, PMID:1749856, PMID:1756143, PMID:2022152, PMID:4063166, PMID:5713769, PMID:7557107, PMID:7584997, PMID:7704024, PMID:7705822, PMID:7728749, PMID:7757073, PMID:7812952, PMID:8128251, PMID:8145827, PMID:8198129, PMID:8521394, PMID:8521398, PMID:8566964, PMID:8571956, PMID:8574961, PMID:8581513, PMID:8592341, PMID:8646682, PMID:8751876, PMID:8776590, PMID:8797773, PMID:8808596, PMID:8863153, PMID:8872463, PMID:8880570, PMID:8895729, PMID:8938136, PMID:8940269, PMID:8971183, PMID:8993976, PMID:9032648, PMID:9052445, PMID:9071575, PMID:9087566, PMID:9218993, PMID:9234704, PMID:9272156, PMID:9288790, PMID:9298827, PMID:9311737, PMID:9322509, PMID:9326924, PMID:9377556, PMID:9399661, PMID:9419403, PMID:9490293, PMID:9506527, PMID:9526167, PMID:9559627, PMID:9611074, PMID:9634524, PMID:9697702, PMID:9718327, PMID:9777949, PMID:9788388, PMID:9806477, PMID:9820400, PMID:9831355, PMID:9833759, PMID:9927033, PMID:9927034, PMID:10037723, PMID:10082584, PMID:10196371, PMID:10200055, PMID:10323887, PMID:10348818, PMID:10375096, PMID:10386556, PMID:10389971, PMID:10422993, PMID:10446963, PMID:10448273, PMID:10471527, PMID:10480359, PMID:10495924, PMID:10521294, PMID:10533476, PMID:10534773, PMID:10573010, PMID:10598809, PMID:10601588, PMID:10612827, PMID:10660333, PMID:10709098, PMID:10713887, PMID:10732761, PMID:10777691, PMID:10793088, PMID:10799973, PMID:10829038, PMID:10861474, PMID:10874307, PMID:10882759, PMID:10923051, PMID:10970186, PMID:10985134, PMID:10995807, PMID:11015456, PMID:11093816, PMID:11112663, PMID:11139242, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11291077, PMID:11292842, PMID:11304573, PMID:11306449, PMID:11342971, PMID:11343035, PMID:11369138, PMID:11376800, PMID:11385712, PMID:11427529, PMID:11429708, PMID:11474654, PMID:11507050, PMID:11524701, PMID:11555625, PMID:11585727, PMID:11601928, PMID:11606497, PMID:11726306, PMID:11748856, PMID:11754112, PMID:11781295, PMID:11793442, PMID:11839723, PMID:11879922, PMID:11920458, PMID:11920650, PMID:11948175, PMID:12011148, PMID:12037578, PMID:12052501, PMID:12067992, PMID:12070261, PMID:12095971, PMID:12112654, PMID:12115348, PMID:12132870, PMID:12173039, PMID:12183410, PMID:12200596, PMID:12362047, PMID:12362848, PMID:12373605, PMID:12377806, PMID:12386821, PMID:12414623, PMID:12414824, PMID:12419761, PMID:12513688, PMID:12522551, PMID:12537657, PMID:12547705, PMID:12555990, PMID:12618391, PMID:12624141, PMID:12655562, PMID:12655568, PMID:12658575, PMID:12799449, PMID:12808326, PMID:12810663, PMID:12874865, PMID:12919137, PMID:12919140, PMID:14504054, PMID:14512394, PMID:14514376, PMID:14517962, PMID:14526391, PMID:14574010, PMID:14635101, PMID:14645426, PMID:14688830, PMID:14699485, PMID:14756672, PMID:14762794, PMID:14871975, PMID:14961575, PMID:14970868, PMID:14985405, PMID:15024732, PMID:15046089, PMID:15099349, PMID:15133479, PMID:15139004, PMID:15173238, PMID:15178966, PMID:15184898, PMID:15217520, PMID:15222003, PMID:15235038, PMID:15253764, PMID:15254659, PMID:15289847, PMID:15300854, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15345113, PMID:15365995, PMID:15365996, PMID:15466831, PMID:15475387, PMID:15494688, PMID:15520370, PMID:15555211, PMID:15563510, PMID:15571801, PMID:15613555, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15765394, PMID:15786548, PMID:15845562, PMID:15849733, PMID:15849752, PMID:15855432, PMID:15864295, PMID:15870828, PMID:15872200, PMID:15926618, PMID:15943554, PMID:15955785, PMID:15991064, PMID:15991306, PMID:15996210, PMID:16034045, PMID:16083711, PMID:16116158, PMID:16142001, PMID:16143124, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16276679, PMID:16288214, PMID:16338176, PMID:16341550, PMID:16341804, PMID:16395668, PMID:16425354, PMID:16451135, PMID:16456782, PMID:16521201, PMID:16616355, PMID:16636019, PMID:16685411, PMID:16724012, PMID:16736289, PMID:16736291, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16885385, PMID:16929514, PMID:16941473, PMID:16963262, PMID:16982745, PMID:16995940, PMID:17011982, PMID:17054581, PMID:17074586, PMID:17087981, PMID:17095871, PMID:17117178, PMID:17135187, PMID:17192056, PMID:17199584, PMID:17203532, PMID:17210669, PMID:17222328, PMID:17228328, PMID:17267619, PMID:17301300, PMID:17312306, PMID:17348456, PMID:17417778, PMID:17440950, PMID:17440981, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17569143, PMID:17576681, PMID:17594722, PMID:17653898, PMID:17665423, PMID:17690979, PMID:17889038, PMID:17895478, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18205192, PMID:18227862, PMID:18270343, PMID:18301448, PMID:18307539, PMID:18325052, PMID:18337503, PMID:18373977, PMID:18383312, PMID:18389388, PMID:18415027, PMID:18470917, PMID:18518984, PMID:18547406, PMID:18556772, PMID:18561205, PMID:18566915, PMID:18618713, PMID:18625694, PMID:18636350, PMID:18713544, PMID:18726168, PMID:18759827, PMID:18772310, PMID:18809606, PMID:18931482, PMID:18951437, PMID:19015241, PMID:19047842, PMID:19072991, PMID:19116412, PMID:19117025, PMID:19120036, PMID:19130300, PMID:19133695, PMID:19142183, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19324997, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19504447, PMID:19526325, PMID:19575290, PMID:19621678, PMID:19665066, PMID:19669161, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19731080, PMID:19760518, PMID:19863800, PMID:20007843, PMID:20020535, PMID:20045164, PMID:20167975, PMID:20176655, PMID:20176959, PMID:20215533, PMID:20223024, PMID:20233461, PMID:20305446, PMID:20373145, PMID:20459533, PMID:20533529, PMID:20587412, PMID:20682701, PMID:20704743, PMID:20717847, PMID:20858721, PMID:20864636, PMID:20937110, PMID:20978114, PMID:20978117, PMID:21034533, PMID:21056691, PMID:21064154, PMID:21120944, PMID:21153778, PMID:21155023, PMID:21239990, PMID:21247423, PMID:21286667, PMID:21286823, PMID:21311894, PMID:21348412, PMID:21387278, PMID:21404117, PMID:21404177, PMID:21475916, PMID:21520333, PMID:21598002, PMID:21636617, PMID:21642682, PMID:21671081, PMID:21671475, PMID:21681552, PMID:21778331, PMID:21868491, PMID:21901500, PMID:21952876, PMID:22081473, PMID:22086678, PMID:22102614, PMID:22136435, PMID:22252508, PMID:22290698, PMID:22322191, PMID:22395473, PMID:22426235, PMID:22453149, PMID:22480969, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22773173, PMID:22776989, PMID:22788692, PMID:22843852, PMID:22854115, PMID:22875147, PMID:22878509, PMID:22883484, PMID:22949379, PMID:22949387, PMID:22987205, PMID:22995991, PMID:23047549, PMID:23112559, PMID:23329266, PMID:23354017, PMID:23403630, PMID:23431106, PMID:23523604, PMID:23544471, PMID:23573243, PMID:23612316, PMID:23640085, PMID:23695190, PMID:23712482, PMID:23729658, PMID:23741719, PMID:23747338, PMID:23752102, PMID:23760103, PMID:23990280, PMID:24032978, PMID:24033266, PMID:24055113, PMID:24090359, PMID:24122200, PMID:24204293, PMID:24278394, PMID:24292105, PMID:24323032, PMID:24333619, PMID:24344984, PMID:24362816, PMID:24440087, PMID:24456667, PMID:24549055, PMID:24689082, PMID:24710284, PMID:24728327, PMID:24743384, PMID:24802709, PMID:24811117, PMID:24851142, PMID:24933000, PMID:24953332, PMID:25060679, PMID:25077178, PMID:25081409, PMID:25110875, PMID:25111426, PMID:25115387, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25148578, PMID:25157968, PMID:25186627, PMID:25197397, PMID:25338684, PMID:25345868, PMID:25420488, PMID:25430799, PMID:25435955, PMID:25477341, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25530820, PMID:25559809, PMID:25576899, PMID:25617771, PMID:25637381, PMID:25640679, PMID:25648859, PMID:25701956, PMID:25741868, PMID:25762362, PMID:25782445, PMID:25823662, PMID:25851949, PMID:25871441, PMID:25871621, PMID:25882375, PMID:25892863, PMID:25927356, PMID:25980754, PMID:26053027, PMID:26078562, PMID:26096739, PMID:26202870, PMID:26206375, PMID:26247049, PMID:26248088, PMID:26249686, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26437357, PMID:26467025, PMID:26485756, PMID:26517685, PMID:26552419, PMID:26557847, PMID:26580448, PMID:26628864, PMID:26637282, PMID:26659639, PMID:26666765, PMID:26681312, PMID:26761715, PMID:26811195, PMID:26845104, PMID:26888055, PMID:26895986, PMID:26898890, PMID:26900293, PMID:26976419, PMID:27064304, PMID:27093186, PMID:27152634, PMID:27153395, PMID:27173243, PMID:27185373, PMID:27295708, PMID:27435373, PMID:27449771, PMID:27487738, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27602174, PMID:27629256, PMID:27647783, PMID:27696107, PMID:27732944, PMID:27831900, PMID:27978560, PMID:28127413, PMID:28135145, PMID:28152038, PMID:28259476, PMID:28334867, PMID:28349240, PMID:28445943, PMID:28449805, PMID:28492532, PMID:28514183, PMID:28526081, PMID:28528518, PMID:28687356, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29050249, PMID:29124495, PMID:29151953, PMID:29212164, PMID:29228462, PMID:29288294, PMID:29360161, PMID:29360550, PMID:29368341, PMID:29419868, PMID:29472279, PMID:29505604, PMID:29506128, PMID:29520894, PMID:29575718, PMID:29596542, PMID:29755653, PMID:29758216, PMID:29887214, PMID:30013564, PMID:30019097, PMID:30093976, PMID:30256826, PMID:30374176, PMID:30504929, PMID:30521064, PMID:30702970, PMID:30720243, PMID:30917047, PMID:30998989, PMID:31118792, PMID:31386297, PMID:31391288, PMID:31784484, PMID:32566746 RGD:1625106 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 DNA:point mutations:exon:Q24E, N499S, E624Q, E1451K
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
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11586295, PMID:12702580, PMID:18521850, PMID:19156873, PMID:25637381, PMID:25741868, PMID:28492532, PMID:29212164 RGD:1600415 NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410
JBrowse link
G Msh2 mutS homolog 2 ISO DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1061282, PMID:1710317, PMID:2695166, PMID:3616036, PMID:6096739, PMID:7557107, PMID:7585065, PMID:7713503, PMID:7717919, PMID:7726159, PMID:7874129, PMID:7937795, PMID:8062247, PMID:8261515, PMID:8521394, PMID:8566964, PMID:8574961, PMID:8581513, PMID:8589682, PMID:8592341, PMID:8613431, PMID:8723682, PMID:8808596, PMID:8872463, PMID:8880570, PMID:8895729, PMID:8931714, PMID:8993976, PMID:9002677, PMID:9036882, PMID:9052445, PMID:9087566, PMID:9125109, PMID:9217825, PMID:9222765, PMID:9240418, PMID:9288790, PMID:9298827, PMID:9311737, PMID:9506527, PMID:9611074, PMID:9621522, PMID:9634524, PMID:9709044, PMID:9718327, PMID:9739019, PMID:9774676, PMID:9777949, PMID:10023327, PMID:10051005, PMID:10077621, PMID:10080150, PMID:10196371, PMID:10323887, PMID:10369701, PMID:10375096, PMID:10397236, PMID:10404063, PMID:10413423, PMID:10422993, PMID:10432927, PMID:10446963, PMID:10448273, PMID:10469597, PMID:10480359, PMID:10495924, PMID:10523644, PMID:10528862, PMID:10530344, PMID:10564582, PMID:10573010, PMID:10612827, PMID:10612836, PMID:10712226, PMID:10713887, PMID:10732761, PMID:10777691, PMID:10793088, PMID:10812001, PMID:10874307, PMID:10874318, PMID:10882759, PMID:10978353, PMID:10995807, PMID:11074494, PMID:11112663, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11291077, PMID:11304573, PMID:11379475, PMID:11385712, PMID:11420466, PMID:11524701, PMID:11535541, PMID:11555625, PMID:11601928, PMID:11606497, PMID:11691782, PMID:11720433, PMID:11754112, PMID:11769729, PMID:11772966, PMID:11782355, PMID:11809679, PMID:11830542, PMID:11854906, PMID:11870161, PMID:11879922, PMID:11910346, PMID:11920458, PMID:11920650, PMID:11975096, PMID:12067992, PMID:12070261, PMID:12112654, PMID:12115348, PMID:12115503, PMID:12124176, PMID:12132870, PMID:12173039, PMID:12200596, PMID:12324578, PMID:12352241, PMID:12362047, PMID:12373605, PMID:12385013, PMID:12386821, PMID:12414824, PMID:12419761, PMID:12436451, PMID:12454801, PMID:12522549, PMID:12537652, PMID:12547705, PMID:12549480, PMID:12624141, PMID:12626904, PMID:12655562, PMID:12655564, PMID:12655568, PMID:12658575, PMID:12660027, PMID:12694232, PMID:12702580, PMID:12792735, PMID:12875840, PMID:12949792, PMID:14499697, PMID:14504054, PMID:14512394, PMID:14514376, PMID:14526391, PMID:14574162, PMID:14574163, PMID:14580774, PMID:14594944, PMID:14635101, PMID:14729822, PMID:14756672, PMID:14871915, PMID:14871975, PMID:14970868, PMID:14994245, PMID:15046089, PMID:15075785, PMID:15178966, PMID:15217520, PMID:15222003, PMID:15235030, PMID:15235034, PMID:15254659, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15350299, PMID:15365995, PMID:15365996, PMID:15516845, PMID:15520224, PMID:15520370, PMID:15527911, PMID:15571801, PMID:15655560, PMID:15680406, PMID:15713769, PMID:15731775, PMID:15845562, PMID:15849733, PMID:15855432, PMID:15862756, PMID:15872200, PMID:15926618, PMID:15929773, PMID:15942939, PMID:15943554, PMID:15945244, PMID:15955785, PMID:15991308, PMID:15991314, PMID:15996210, PMID:16015629, PMID:16034045, PMID:16086322, PMID:16116158, PMID:16142001, PMID:16143124, PMID:16175654, PMID:16181381, PMID:16199548, PMID:16203774, PMID:16216036, PMID:16237223, PMID:16251890, PMID:16311127, PMID:16327991, PMID:16341550, PMID:16395668, PMID:16408224, PMID:16423994, PMID:16425354, PMID:16451135, PMID:16476474, PMID:16479259, PMID:16500024, PMID:16534870, PMID:16574953, PMID:16614121, PMID:16616355, PMID:16636019, PMID:16639607, PMID:16736289, PMID:16803540, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16884359, PMID:16885385, PMID:16929514, PMID:16995940, PMID:16996571, PMID:17011982, PMID:17074586, PMID:17095871, PMID:17101317, PMID:17165155, PMID:17189986, PMID:17192056, PMID:17229076, PMID:17250661, PMID:17250665, PMID:17250671, PMID:17312306, PMID:17348456, PMID:17350822, PMID:17374836, PMID:17414604, PMID:17440950, PMID:17453009, PMID:17473388, PMID:17483304, PMID:17505997, PMID:17531815, PMID:17569143, PMID:17594722, PMID:17601929, PMID:17653898, PMID:17661183, PMID:17720936, PMID:17846840, PMID:17939062, PMID:18033691, PMID:18257912, PMID:18270343, PMID:18289827, PMID:18307539, PMID:18325052, PMID:18383312, PMID:18389388, PMID:18406877, PMID:18415027, PMID:18470917, PMID:18547406, PMID:18556772, PMID:18559331, PMID:18561205, PMID:18566915, PMID:18618713, PMID:18625694, PMID:18636359, PMID:18641418, PMID:18674656, PMID:18726168, PMID:18759827, PMID:18772310, PMID:18781192, PMID:18781619, PMID:18822302, PMID:18841495, PMID:18931482, PMID:18951462, PMID:18951465, PMID:18990764, PMID:19047842, PMID:19072991, PMID:19101824, PMID:19117025, PMID:19250818, PMID:19267393, PMID:19324997, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19659756, PMID:19669161, PMID:19669601, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19706203, PMID:19723918, PMID:19728162, PMID:19731080, PMID:19760518, PMID:19930554, PMID:20007843, PMID:20010080, PMID:20052760, PMID:20068152, PMID:20176959, PMID:20215533, PMID:20223024, PMID:20233461, PMID:20301390, PMID:20305446, PMID:20388775, PMID:20459533, PMID:20587412, PMID:20591884, PMID:20672385, PMID:20682701, PMID:20850175, PMID:20872076, PMID:20965939, PMID:21056691, PMID:21120944, PMID:21145788, PMID:21153778, PMID:21155023, PMID:21225464, PMID:21227399, PMID:21239990, PMID:21309037, PMID:21311894, PMID:21387278, PMID:21419771, PMID:21431882, PMID:21520333, PMID:21550136, PMID:21590452, PMID:21598002, PMID:21615986, PMID:21642682, PMID:21671081, PMID:21681552, PMID:21778331, PMID:21788563, PMID:21791569, PMID:21837758, PMID:21868491, PMID:21879275, PMID:21926548, PMID:22006311, PMID:22034109, PMID:22039344, PMID:22067334, PMID:22102614, PMID:22144684, PMID:22166501, PMID:22219001, PMID:22234272, PMID:22283331, PMID:22290698, PMID:22321913, PMID:22322191, PMID:22371642, PMID:22480969, PMID:22581703, PMID:22585170, PMID:22658618, PMID:22691310, PMID:22703879, PMID:22712459, PMID:22739024, PMID:22781090, PMID:22883484, PMID:22949379, PMID:22949387, PMID:22977643, PMID:22987205, PMID:22995991, PMID:23047549, PMID:23170986, PMID:23248292, PMID:23329266, PMID:23443670, PMID:23454724, PMID:23523604, PMID:23526924, PMID:23537056, PMID:23573243, PMID:23604856, PMID:23640085, PMID:23690608, PMID:23729658, PMID:23733757, PMID:23760103, PMID:23960188, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24078570, PMID:24082139, PMID:24090359, PMID:24100870, PMID:24114314, PMID:24194902, PMID:24240112, PMID:24244552, PMID:24278394, PMID:24310308, PMID:24323032, PMID:24326041, PMID:24344984, PMID:24362816, PMID:24393486, PMID:24396821, PMID:24415873, PMID:24474082, PMID:24501230, PMID:24506336, PMID:24549055, PMID:24603434, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24735542, PMID:24763289, PMID:24851142, PMID:24933000, PMID:24933100, PMID:24953332, PMID:25006859, PMID:25032700, PMID:25081409, PMID:25093288, PMID:25107687, PMID:25110875, PMID:25117502, PMID:25117503, PMID:25133505, PMID:25173403, PMID:25186627, PMID:25194673, PMID:25200962, PMID:25420488, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25569433, PMID:25637381, PMID:25639900, PMID:25648859, PMID:25701956, PMID:25712738, PMID:25741868, PMID:25782445, PMID:25871441, PMID:25872134, PMID:25964535, PMID:25980754, PMID:26053027, PMID:26076155, PMID:26094658, PMID:26096739, PMID:26182300, PMID:26202870, PMID:26247049, PMID:26248088, PMID:26250988, PMID:26270727, PMID:26289772, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26344056, PMID:26381082, PMID:26437257, PMID:26446363, PMID:26467025, PMID:26485756, PMID:26517685, PMID:26528695, PMID:26552419, PMID:26556299, PMID:26580448, PMID:26635394, PMID:26659599, PMID:26659639, PMID:26681312, PMID:26689913, PMID:26718727, PMID:26824983, PMID:26845104, PMID:26866578, PMID:26878173, PMID:26898890, PMID:26900293, PMID:26951660, PMID:26976419, PMID:27007491, PMID:27013479, PMID:27016151, PMID:27064304, PMID:27153395, PMID:27273229, PMID:27284491, PMID:27287813, PMID:27328445, PMID:27443514, PMID:27449771, PMID:27468915, PMID:27556954, PMID:27600092, PMID:27601186, PMID:27606285, PMID:27628256, PMID:27629256, PMID:27720647, PMID:27978560, PMID:28050010, PMID:28125075, PMID:28127413, PMID:28135145, PMID:28152038, PMID:28195393, PMID:28202063, PMID:28349240, PMID:28422960, PMID:28445943, PMID:28449805, PMID:28491141, PMID:28492532, PMID:28494185, PMID:28514183, PMID:28526081, PMID:28537014, PMID:28577310, PMID:28580595, PMID:28640387, PMID:28687971, PMID:28724667, PMID:28767289, PMID:28769567, PMID:28785832, PMID:28790115, PMID:28828701, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29020732, PMID:29050249, PMID:29164703, PMID:29192238, PMID:29212164, PMID:29238914, PMID:29333623, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29458332, PMID:29489754, PMID:29568967, PMID:29575718, PMID:29684080, PMID:29690800, PMID:29706558, PMID:29706640, PMID:29731845, PMID:29752822, PMID:29769598, PMID:29887214, PMID:29889250, PMID:29945567, PMID:30019097, PMID:30089731, PMID:30093976, PMID:30131383, PMID:30217226, PMID:30306255, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30376427, PMID:30521064, PMID:30702970, PMID:30742731, PMID:30798936, PMID:30850667, PMID:30998989, PMID:31101557, PMID:31307542, PMID:31366136, PMID:31386297, PMID:31422574, PMID:31647837, PMID:32566746, PMID:32587781, PMID:206672385 RGD:1625106 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 DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
ClinVar Annotator: match by term: Lynch syndrome I
HNPCC5, DNA:deletion:exon:L222X
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1548301, PMID:1734424, PMID:1736038, PMID:1851154, PMID:1958276, PMID:2059188, PMID:2563738, PMID:5559809, PMID:7604266, PMID:8063241, PMID:8176851, PMID:8838326, PMID:9307272, PMID:9354786, PMID:9774676, PMID:9819445, PMID:9929971, PMID:10348829, PMID:10413423, PMID:10471527, PMID:10507723, PMID:10508506, PMID:10521294, PMID:10537275, PMID:10612827, PMID:10675480, PMID:10699937, PMID:10938287, PMID:11153917, PMID:11470537, PMID:11479205, PMID:11586295, PMID:11641390, PMID:11709755, PMID:11807791, PMID:11900875, PMID:12019211, PMID:12202775, PMID:12376507, PMID:12376742, PMID:12522549, PMID:12537658, PMID:12547705, PMID:12658575, PMID:12732731, PMID:14520694, PMID:14574004, PMID:14585961, PMID:14871975, PMID:14961575, PMID:14974087, PMID:15098177, PMID:15184898, PMID:15217520, PMID:15236168, PMID:15340264, PMID:15354210, PMID:15365995, PMID:15483016, PMID:15571801, PMID:15805151, PMID:15837969, PMID:15872200, PMID:15952900, PMID:16010685, PMID:16034045, PMID:16203774, PMID:16237223, PMID:16270383, PMID:16283678, PMID:16283884, PMID:16341805, PMID:16360201, PMID:16408224, PMID:16418736, PMID:16464007, PMID:16525781, PMID:16636019, PMID:16638864, PMID:16736289, PMID:16771955, PMID:16807412, PMID:16885385, PMID:16929514, PMID:16940983, PMID:17117178, PMID:17199584, PMID:17205513, PMID:17259933, PMID:17323113, PMID:17344846, PMID:17417778, PMID:17440981, PMID:17453009, PMID:17498565, PMID:17531815, PMID:17557300, PMID:17594722, PMID:17653898, PMID:17661183, PMID:17718861, PMID:17854147, PMID:17909073, PMID:18033691, PMID:18067074, PMID:18176851, PMID:18236172, PMID:18269114, PMID:18301448, PMID:18307539, PMID:18355840, PMID:18389388, PMID:18409202, PMID:18415027, PMID:18417481, PMID:18521850, PMID:18523027, PMID:18550572, PMID:18566915, PMID:18625694, PMID:18701435, PMID:18790734, PMID:18809606, PMID:19072991, PMID:19130300, PMID:19194194, PMID:19250818, PMID:19324997, PMID:19389263, PMID:19459153, PMID:19526325, PMID:19575290, PMID:19659577, PMID:19685280, PMID:19685281, PMID:19698169, PMID:19766128, PMID:19781088, PMID:19851887, PMID:19924528, PMID:19931546, PMID:20007843, PMID:20028993, PMID:20045164, PMID:20149637, PMID:20176959, PMID:20379851, PMID:20487569, PMID:20587412, PMID:20591884, PMID:20682701, PMID:20924129, PMID:20937110, PMID:21039432, PMID:21056691, PMID:21081928, PMID:21120944, PMID:21153778, PMID:21155762, PMID:21247423, PMID:21437237, PMID:21520333, PMID:21642682, PMID:21671081, PMID:21674763, PMID:21836479, PMID:21868491, PMID:22006311, PMID:22081473, PMID:22102614, PMID:22144684, PMID:22180424, PMID:22219001, PMID:22250089, PMID:22283331, PMID:22290698, PMID:22480969, PMID:22495361, PMID:22581703, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22734033, PMID:22766992, PMID:22810696, PMID:22851212, PMID:22895193, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23104009, PMID:23263490, PMID:23294250, PMID:23354634, PMID:23523604, PMID:23530095, PMID:23541221, PMID:23544471, PMID:23554159, PMID:23612316, PMID:23621914, PMID:23652311, PMID:23700467, PMID:23729658, PMID:23733757, PMID:23757202, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24068316, PMID:24072394, PMID:24073290, PMID:24100870, PMID:24244552, PMID:24278394, PMID:24323032, PMID:24362816, PMID:24393486, PMID:24425144, PMID:24440087, PMID:24448499, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24737826, PMID:24763289, PMID:24933000, PMID:24933100, PMID:25006859, PMID:25081409, PMID:25093288, PMID:25110875, PMID:25111426, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25186627, PMID:25194673, PMID:25224212, PMID:25231023, PMID:25307252, PMID:25318351, PMID:25318681, PMID:25370038, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25536104, PMID:25559809, PMID:25561518, PMID:25617771, PMID:25637381, PMID:25648859, PMID:25670083, PMID:25701956, PMID:25741868, PMID:25751794, PMID:25782445, PMID:25801821, PMID:25871441, PMID:25980754, PMID:25985138, PMID:26023681, PMID:26046366, PMID:26099011, PMID:26177554, PMID:26181448, PMID:26206375, PMID:26270727, PMID:26274037, PMID:26300997, PMID:26318770, PMID:26332594, PMID:26333163, PMID:26374070, PMID:26436109, PMID:26436112, PMID:26437257, PMID:26440929, PMID:26457233, PMID:26467025, PMID:26483394, PMID:26485756, PMID:26517685, PMID:26530882, PMID:26544533, PMID:26552419, PMID:26580448, PMID:26633542, PMID:26648449, PMID:26666765, PMID:26674132, PMID:26681312, PMID:26687385, PMID:26689913, PMID:26720728, PMID:26787237, PMID:26805314, PMID:26811195, PMID:26832770, PMID:26845104, PMID:26866578, PMID:26888055, PMID:26898890, PMID:26900293, PMID:26901136, PMID:26976419, PMID:27013479, PMID:27028851, PMID:27060149, PMID:27064304, PMID:27153395, PMID:27165744, PMID:27273229, PMID:27329137, PMID:27432916, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27456091, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27696107, PMID:27714650, PMID:27723366, PMID:27854360, PMID:27878467, PMID:27920101, PMID:27928858, PMID:27978560, PMID:28125075, PMID:28135145, PMID:28152038, PMID:28153049, PMID:28176205, PMID:28195393, PMID:28206961, PMID:28283864, PMID:28323777, PMID:28369758, PMID:28449805, PMID:28460341, PMID:28466842, PMID:28481244, PMID:28492532, PMID:28502729, PMID:28503720, PMID:28514183, PMID:28528517, PMID:28528518, PMID:28531214, PMID:28596308, PMID:28687356, PMID:28724667, PMID:28765196, PMID:28767289, PMID:28873162, PMID:28874130, PMID:28878254, PMID:28922847, PMID:28944238, PMID:29107668, PMID:29212164, PMID:29263802, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29575718, PMID:29596542, PMID:29659569, PMID:29684080, PMID:29750335, PMID:29753700, PMID:29785566, PMID:29880898, PMID:29887214, PMID:29915797, PMID:29922827, PMID:29946849, PMID:29967336, PMID:30013564, PMID:30128536, PMID:30306255, PMID:30311386, PMID:30374176, PMID:30376427, PMID:30498870, PMID:30521064, PMID:30670635, PMID:31100584, PMID:31204389, PMID:31297337, PMID:31307542, PMID:31391288, PMID:31422818, PMID:31666926, PMID:31965077, PMID:32141610, PMID:32566746, PMID:32773772 RGD:1600460, RGD:1625106 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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 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 NCBI chrNW_004955452:6,261,500...6,278,393
Ensembl chrNW_004955452:6,261,286...6,278,393
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 JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
RGD
ClinVar
PMID:8072530, PMID:25741868 RGD:1599137 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
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:2440087, PMID:7628019, PMID:7629132, PMID:7632227, PMID:7661930, PMID:7704024, PMID:8072530, PMID:8993976, PMID:9419979, PMID:9488480, PMID:9683794, PMID:10037723, PMID:10199405, PMID:10479499, PMID:10480359, PMID:10763829, PMID:11574484, PMID:11897781, PMID:12208142, PMID:12714694, PMID:14574005, PMID:14756672, PMID:15077197, PMID:15256438, PMID:15304120, PMID:15448003, PMID:15470502, PMID:15521988, PMID:15845562, PMID:15872200, PMID:15887099, PMID:15887124, PMID:15942939, PMID:16144131, PMID:16283678, PMID:16426742, PMID:16472587, PMID:16507833, PMID:16609022, PMID:16619239, PMID:16774946, PMID:16817031, PMID:16873062, PMID:17016615, PMID:17029773, PMID:17072973, PMID:17139668, PMID:17258725, PMID:17312306, PMID:17453009, PMID:17557300, PMID:17567544, PMID:17993636, PMID:18007577, PMID:18030674, PMID:18178629, PMID:18268114, PMID:18273873, PMID:18310077, PMID:18415027, PMID:18602922, PMID:18619468, PMID:18768816, PMID:18824584, PMID:19132747, PMID:19156169, PMID:19283792, PMID:19479271, PMID:19495563, PMID:19526325, PMID:20176959, PMID:20186688, PMID:20186689, PMID:20205264, PMID:20487569, PMID:20531397, PMID:20624957, PMID:20698049, PMID:21182953, PMID:21204794, PMID:21239990, PMID:21356188, PMID:21376568, PMID:21520333, PMID:21618646, PMID:21984973, PMID:22081473, PMID:22086678, PMID:22120844, PMID:22290698, PMID:22577899, PMID:22585707, PMID:22608206, PMID:22658618, PMID:22692065, PMID:22703879, PMID:22875147, PMID:22918162, PMID:22941189, PMID:22949387, PMID:23012243, PMID:23017166, PMID:23376243, PMID:23435383, PMID:23582141, PMID:23612316, PMID:23629955, PMID:23652311, PMID:23709753, PMID:23837913, PMID:23960188, PMID:23981578, PMID:24027009, PMID:24033266, PMID:24055113, PMID:24072394, PMID:24113346, PMID:24130102, PMID:24326041, PMID:24351291, PMID:24362816, PMID:24434690, PMID:24440087, PMID:24549055, PMID:24556621, PMID:24618965, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24763289, PMID:24897087, PMID:25006859, PMID:25117502, PMID:25142776, PMID:25151201, PMID:25186627, PMID:25194673, PMID:25326637, PMID:25345868, PMID:25430799, PMID:25477341, PMID:25479140, PMID:25503501, PMID:25512458, PMID:25525159, PMID:25559809, PMID:25567908, PMID:25637381, PMID:25648859, PMID:25701956, PMID:25741868, PMID:25801821, PMID:25850602, PMID:25856668, PMID:25871621, PMID:25938944, PMID:25964535, PMID:25980754, PMID:26110232, PMID:26116798, PMID:26232782, PMID:26247049, PMID:26249686, PMID:26270727, PMID:26272126, PMID:26318770, PMID:26437257, PMID:26467025, PMID:26483394, PMID:26517685, PMID:26544533, PMID:26681312, PMID:26689913, PMID:26720728, PMID:26811195, PMID:26837502, PMID:26845104, PMID:26866578, PMID:26895986, PMID:26898890, PMID:26976419, PMID:27001570, PMID:27017610, PMID:27028851, PMID:27037742, PMID:27060149, PMID:27060170, PMID:27064304, PMID:27153395, PMID:27273229, PMID:27392081, PMID:27433846, PMID:27435373, PMID:27443514, PMID:27449771, PMID:27476653, PMID:27498913, PMID:27535533, PMID:27589204, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27647783, PMID:27863258, PMID:27878467, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28152038, PMID:28195393, PMID:28365877, PMID:28381238, PMID:28449805, PMID:28466842, PMID:28492532, PMID:28503720, PMID:28503822, PMID:28514183, PMID:28528518, PMID:28562508, PMID:28596308, PMID:28640387, PMID:28724667, PMID:28726808, PMID:28765196, PMID:28805995, PMID:28873162, PMID:28874130, PMID:28975465, PMID:29335925, PMID:29345684, PMID:29356034, PMID:29489754, PMID:29566657, PMID:29659569, PMID:29667044, PMID:29752822, PMID:29785153, PMID:29887214, PMID:29945567, PMID:29946849, PMID:30039884, PMID:30093976, PMID:30155321, PMID:30161022, PMID:30256826, PMID:30306255, PMID:30311386, PMID:30337059, PMID:30374176, PMID:30376427, PMID:30447919, PMID:30521064, PMID:30572730, PMID:30653781, PMID:30680046, PMID:30760869, PMID:30877237, PMID:31101557, PMID:31159747, PMID:31300551, PMID:32773772 RGD:1599137, RGD:1599142 NCBI chrNW_004955460:13,762,854...13,791,462 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 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 Stpg4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:30374176 NCBI chrNW_004955441:13,926,926...13,969,316
Ensembl chrNW_004955441:13,925,403...13,969,052
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lynch syndrome
CTD
ClinVar
PMID:9590282, 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 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004955421:3,707,510...3,852,886
Ensembl chrNW_004955421:3,707,510...3,853,868
JBrowse link
Lynch syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lynch syndrome I
CTD
ClinVar
PMID:19098912, 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 Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome I ClinVar NCBI chrNW_004955441:14,270,030...14,281,639 JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Lynch syndrome I
ClinVar Annotator: match by term: Lynch syndrome II
ClinVar PMID:16, PMID:661956, PMID:1522200, PMID:1756143, PMID:2022152, PMID:5713769, PMID:7557107, PMID:7584997, PMID:8145827, PMID:8521398, PMID:8566964, PMID:8571956, PMID:8574961, PMID:8581513, PMID:8592341, PMID:8797773, PMID:08808596, PMID:8863153, PMID:8872463, PMID:8880570, PMID:8938136, PMID:8940269, PMID:8993976, PMID:9052445, PMID:9057658, PMID:9071575, PMID:9087566, PMID:9218993, PMID:9234704, PMID:9272156, PMID:9298827, PMID:9311737, PMID:9322509, PMID:9326924, PMID:9377556, PMID:9419403, PMID:9506527, PMID:9526167, PMID:9559627, PMID:9611074, PMID:9697702, PMID:9718327, PMID:9777949, PMID:9806477, PMID:9831355, PMID:9833759, PMID:9927033, PMID:9927034, PMID:10037723, PMID:10200055, PMID:10323887, PMID:10348818, PMID:10386556, PMID:10389971, PMID:10413423, PMID:10422993, PMID:10446963, PMID:10448273, PMID:10480359, PMID:10495924, PMID:10573010, PMID:10598809, PMID:10601588, PMID:10612827, PMID:10671064, PMID:10709098, PMID:10713887, PMID:10732761, PMID:10793088, PMID:10829038, PMID:10861474, PMID:10874307, PMID:10923051, PMID:10956410, PMID:10970186, PMID:10995807, PMID:11015456, PMID:11093816, PMID:11112663, PMID:11139242, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11342971, PMID:11343035, PMID:11369138, PMID:11376800, PMID:11385712, PMID:11389087, PMID:11427529, PMID:11429708, PMID:11474654, PMID:11524701, PMID:11555625, PMID:11574484, PMID:11585727, PMID:11601928, PMID:11606497, PMID:11726306, PMID:11748856, PMID:11781295, PMID:11793442, PMID:11839723, PMID:11870161, PMID:11879922, PMID:11920458, PMID:11920650, PMID:11948175, PMID:12011148, PMID:12037578, PMID:12067992, PMID:12070261, PMID:12095971, PMID:12112654, PMID:12115348, PMID:12173039, PMID:12183410, PMID:12200596, PMID:12362047, PMID:12373605, PMID:12377806, PMID:12386821, PMID:12414824, PMID:12419761, PMID:12513688, PMID:12522551, PMID:12537657, PMID:12547705, PMID:12618391, PMID:12624141, PMID:12655568, PMID:12658575, PMID:12799449, PMID:12808326, PMID:12810663, PMID:12874865, PMID:12919137, PMID:12919140, PMID:14512394, PMID:14514376, PMID:14526391, PMID:14574010, PMID:14635101, PMID:14645426, PMID:14688830, PMID:14699485, PMID:14762794, PMID:14871975, PMID:14961575, PMID:15024732, PMID:15099349, PMID:15133479, PMID:15139004, PMID:15173238, PMID:15178966, PMID:15184898, PMID:15222003, PMID:15235038, PMID:15253764, PMID:15254659, PMID:15256438, PMID:15289847, PMID:15300854, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15345113, PMID:15365995, PMID:15475387, PMID:15494688, PMID:15520370, PMID:15563510, PMID:15571801, PMID:15613555, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15765394, PMID:15845562, PMID:15849733, PMID:15864295, PMID:15870828, PMID:15872200, PMID:15926618, PMID:15943554, PMID:15955785, PMID:15991064, PMID:15991306, PMID:15996210, PMID:16034045, PMID:16083711, PMID:16142001, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16270383, PMID:16288214, PMID:16338176, PMID:16341550, PMID:16341804, PMID:16395668, PMID:16425354, PMID:16451135, PMID:16456782, PMID:16636019, PMID:16685411, PMID:16724012, PMID:16736289, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16885385, PMID:16929514, PMID:16963262, PMID:16982745, PMID:16995940, PMID:17011982, PMID:17054581, PMID:17074586, PMID:17117178, PMID:17135187, PMID:17192056, PMID:17199584, PMID:17210669, PMID:17250665, PMID:17267619, PMID:17301300, PMID:17312306, PMID:17348456, PMID:17370310, PMID:17414604, PMID:17417778, PMID:17440950, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17569143, PMID:17576681, PMID:17594722, PMID:17653898, PMID:17690979, PMID:17889038, PMID:17895478, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18205192, PMID:18301448, PMID:18307539, PMID:18325052, PMID:18337503, PMID:18373977, PMID:18383312, PMID:18389388, PMID:18415027, PMID:18470917, PMID:18518984, PMID:18547406, PMID:18561205, PMID:18566915, PMID:18625694, PMID:18636350, PMID:18713544, PMID:18726168, PMID:18772310, PMID:18792805, PMID:18809606, PMID:18931482, PMID:18951437, PMID:18951440, PMID:18999873, PMID:19116412, PMID:19117025, PMID:19120036, PMID:19142183, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19339519, PMID:19386570, PMID:19389263, PMID:19419416, PMID:19423266, PMID:19459153, PMID:19504447, PMID:19526325, PMID:19665066, PMID:19669161, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19760518, PMID:19863800, PMID:20020535, PMID:20034658, PMID:20045164, PMID:20052760, PMID:20176655, PMID:20176959, PMID:20223024, PMID:20233461, PMID:20373145, PMID:20473912, PMID:20533529, PMID:20587412, PMID:20682701, PMID:20858721, PMID:20864636, PMID:20937110, PMID:20978114, PMID:20978117, PMID:21034533, PMID:21056691, PMID:21120944, PMID:21136174, PMID:21153778, PMID:21155023, PMID:21239990, PMID:21247423, PMID:21286667, PMID:21311894, PMID:21387278, PMID:21404117, PMID:21404177, PMID:21475916, PMID:21520333, PMID:21598002, PMID:21615986, PMID:21636617, PMID:21642682, PMID:21671475, PMID:21681552, PMID:21785361, PMID:21840485, PMID:21868491, PMID:21901500, PMID:21952876, PMID:22006311, PMID:22034109, PMID:22081473, PMID:22086678, PMID:22136435, PMID:22144684, PMID:22252508, PMID:22290698, PMID:22322191, PMID:22395473, PMID:22691310, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22776989, PMID:22843852, PMID:22875147, PMID:22878509, PMID:22949379, PMID:22949387, PMID:22995991, PMID:23047549, PMID:23329266, PMID:23354017, PMID:23403630, PMID:23431106, PMID:23523604, PMID:23544471, PMID:23573243, PMID:23640085, PMID:23695190, PMID:23729658, PMID:23741719, PMID:23747338, PMID:23760103, PMID:24032978, PMID:24033266, PMID:24055113, PMID:24073290, PMID:24084575, PMID:24090359, PMID:24278394, PMID:24302565, PMID:24323032, PMID:24344984, PMID:24362816, PMID:24383517, PMID:24440087, PMID:24456667, PMID:24549055, PMID:24689082, PMID:24710284, PMID:24728327, PMID:24743384, PMID:24802709, PMID:24933000, PMID:24953332, PMID:25110875, PMID:25111426, PMID:25115387, PMID:25133505, PMID:25142776, PMID:25148578, PMID:25157968, PMID:25186627, PMID:25197397, PMID:25338684, PMID:25430799, PMID:25437057, PMID:25477341, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25579085, PMID:25617771, PMID:25637381, PMID:25648859, PMID:25741868, PMID:25762362, PMID:25823662, PMID:25871441, PMID:25871621, PMID:25882375, PMID:25892863, PMID:25980754, PMID:26053027, PMID:26078562, PMID:26096739, PMID:26206375, PMID:26247049, PMID:26247079, PMID:26248088, PMID:26249686, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26437357, PMID:26467025, PMID:26485756, PMID:26510091, PMID:26552419, PMID:26580448, PMID:26637282, PMID:26659599, PMID:26659639, PMID:26681312, PMID:26761715, PMID:26811195, PMID:26817999, PMID:26845104, PMID:26888055, PMID:26895986, PMID:26898890, PMID:26900293, PMID:26976419, PMID:27064304, PMID:27093186, PMID:27121310, PMID:27152634, PMID:27153395, PMID:27173243, PMID:27185373, PMID:27284491, PMID:27295708, PMID:27300758, PMID:27435373, PMID:27449771, PMID:27487738, PMID:27498913, PMID:27527004, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27629256, PMID:27647783, PMID:27696107, PMID:27732944, PMID:27831900, PMID:27930734, PMID:27978560, PMID:28127413, PMID:28135145, PMID:28445943, PMID:28449805, PMID:28466842, PMID:28492532, PMID:28503720, PMID:28514183, PMID:28526081, PMID:28528518, PMID:28687356, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29050249, PMID:29151953, PMID:29212164, PMID:29228462, PMID:29288294, PMID:29360550, PMID:29368341, PMID:29419868, PMID:29472279, PMID:29478780, PMID:29484706, PMID:29505604, PMID:29506128, PMID:29520894, PMID:29575718, PMID:29596542, PMID:29758216, PMID:29887214, PMID:29922827, PMID:30019097, PMID:30093976, PMID:30238922, PMID:30256826, PMID:30324682, PMID:30504929, PMID:30521064, PMID:30720243, PMID:30866919, PMID:30998989, PMID:31273885, PMID:31386297, PMID:31391288, PMID:31642931, PMID:31784484, PMID:32566746 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 OMIM 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 I ClinVar PMID:1548301, PMID:1958276, PMID:8838326, PMID:9354786, PMID:9510473, PMID:10348829, PMID:10508506, PMID:10537275, PMID:10612827, PMID:10699937, PMID:11153917, PMID:11470537, PMID:11807791, PMID:12376507, PMID:14520694, PMID:14871975, PMID:14974087, PMID:15184898, PMID:15217520, PMID:15236168, PMID:15340264, PMID:15483016, PMID:15805151, PMID:15872200, PMID:16010685, PMID:16034045, PMID:16203774, PMID:16237223, PMID:16270383, PMID:16341805, PMID:16408224, PMID:16418736, PMID:16525781, PMID:16771955, PMID:16813607, PMID:17117178, PMID:17205513, PMID:17417778, PMID:17453009, PMID:17531815, PMID:18033691, PMID:18269114, PMID:18301448, PMID:18355840, PMID:18409202, PMID:18523027, PMID:18566915, PMID:18625694, PMID:18701435, PMID:18809606, PMID:19072991, PMID:19250818, PMID:19389263, PMID:19685280, PMID:19723918, PMID:19781088, PMID:19924528, PMID:20028993, PMID:20176959, PMID:20379851, PMID:20487569, PMID:20587412, PMID:20937110, PMID:21039432, PMID:21056691, PMID:21239990, PMID:21520333, PMID:21836479, PMID:22006311, PMID:22081473, PMID:22102614, PMID:22250089, PMID:22283331, PMID:22290698, PMID:22495361, PMID:22703879, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23104009, PMID:23403630, PMID:23612316, PMID:23621914, PMID:23733757, PMID:23755103, PMID:24033266, PMID:24072394, PMID:24323032, PMID:24362816, PMID:24710284, PMID:24728189, PMID:24728327, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25536104, PMID:25617771, PMID:25637381, PMID:25741868, PMID:25751794, PMID:26023681, PMID:26046366, PMID:26467025, PMID:26483394, PMID:26530882, PMID:26689913, PMID:26832770, PMID:26845104, PMID:26898890, PMID:27028851, PMID:27153395, PMID:27273229, PMID:27498913, PMID:27601186, PMID:27616075, PMID:27696107, PMID:28153049, PMID:28481244, PMID:28492532, PMID:28531214, PMID:28767289, PMID:28873162, PMID:28878254, PMID:28944238, PMID:29360161, PMID:29368341, PMID:29684080, PMID:29750335, PMID:29785566, PMID:29922827, PMID:30013564, PMID:30128536, PMID:30521064, PMID:31100584, PMID:31391288, PMID:31422818, PMID:31965077 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD 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 I ClinVar PMID:7704024, PMID:8072530, PMID:9419979, PMID:9683794, PMID:10479499, PMID:10480359, PMID:11574484, PMID:11793469, PMID:12208142, PMID:14756672, PMID:15256438, PMID:15304120, PMID:15448003, PMID:15521988, PMID:15872200, PMID:15887099, PMID:16472587, PMID:16619239, PMID:16817031, PMID:16873062, PMID:17029773, PMID:17312306, PMID:17567544, PMID:17993636, PMID:18602922, PMID:18768816, PMID:19132747, PMID:19389263, PMID:20176959, PMID:20186688, PMID:20186689, PMID:20205264, PMID:20487569, PMID:20624957, PMID:20698049, PMID:21153778, PMID:21239990, PMID:21984973, PMID:22120844, PMID:22290698, PMID:22577899, PMID:22703879, PMID:22949387, PMID:23012243, PMID:23612316, PMID:23652311, PMID:23709753, PMID:23960188, PMID:23981578, PMID:24027009, PMID:24033266, PMID:24326041, PMID:24351291, PMID:24362816, PMID:24434690, PMID:24556621, PMID:24618965, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:25117502, PMID:25186627, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25964535, PMID:25980754, PMID:26110232, PMID:26116798, PMID:26272126, PMID:26318770, PMID:26467025, PMID:26483394, PMID:26517685, PMID:26681312, PMID:26689913, PMID:26837502, PMID:26845104, PMID:26898890, PMID:27017610, PMID:27037742, PMID:27064304, PMID:27435373, PMID:27449771, PMID:27601186, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28466842, PMID:28492532, PMID:28503720, PMID:28562508, PMID:28726808, PMID:28765196, PMID:29659569, PMID:29752822, PMID:29785153, PMID:29887214, PMID:29946849, PMID:30155321, PMID:30256826, PMID:30337059, PMID:30521064, PMID:30572730, PMID:30760869, PMID:32773772 NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Rad51d RAD51 paralog D ISO ClinVar Annotator: match by term: Lynch syndrome I ClinVar PMID:21822267, PMID:25741868, PMID:26261251, PMID:26467025, PMID:28492532, PMID:29371908 NCBI chrNW_004955481:9,795,102...9,810,426
Ensembl chrNW_004955481:9,795,102...9,810,426
JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO OMIM 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 OMIM NCBI chrNW_004955437:1,480,217...1,499,032 JBrowse link
G Tapbp TAP binding protein ISO OMIM 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 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 OMIM
RGD
PMID:11466404 RGD:5491200 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 2
ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar PMID:28492532 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 OMIM 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 OMIM 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 OMIM NCBI chrNW_004955431:9,200,006...9,209,588
Ensembl chrNW_004955431:9,200,117...9,208,811
JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlh1 mutL homolog 1 ISO OMIM 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 OMIM 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 Nbn nibrin ISO OMIM 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:10792024, PMID:15048089, PMID:15758953, PMID:15964794, PMID:21035407, PMID:22864661, PMID:24894818, PMID:25741868, PMID:26315354, PMID:26467025, PMID:26681312, PMID:28492532 NCBI chrNW_004955417:6,816,348...6,833,257
Ensembl chrNW_004955417:6,816,346...6,833,810
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 OMIM NCBI chrNW_004955408:3,953,801...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 OMIM NCBI chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321
JBrowse link
G Rag1 recombination activating 1 ISO OMIM 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 OMIM 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 OMIM 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 OMIM NCBI chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422
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: RAG2 deficiency
ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency
ClinVar PMID:25741868, PMID:28492532, PMID:29772310 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 OMIM 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 Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: High Grade Surface Osteosarcoma ClinVar PMID:25741868, PMID:26467025, PMID:26580448, PMID:28492532 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Recql4 RecQ like helicase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rothmund-Thomson syndrome
CTD
ClinVar
RGD
PMID:10319867, PMID:10678659, PMID:12734318, PMID:12838562, PMID:15964893, PMID:16681588, PMID:17250521, PMID:18616953, PMID:18647888, PMID:18716613, PMID:19291770, PMID:21418107, PMID:24033266, PMID:24635570, PMID:25120469, PMID:25326635, PMID:25741868, PMID:27247962, PMID:28492532 RGD:1599421 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 OMIM NCBI chrNW_004955470:2,182,163...2,262,804
Ensembl chrNW_004955470:2,183,766...2,262,900
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Poikiloderma atrophicans and cataract ClinVar PMID:10678659, PMID:12734318, PMID:12838562, PMID:18716613, PMID:25741868 NCBI chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422
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 OMIM 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 Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
RGD
ClinVar
PMID:498598, PMID:980079, PMID:1284479, PMID:2166947, PMID:2651461, PMID:2758612, PMID:2783588, PMID:3839802, PMID:6208479, PMID:7599635, PMID:8023852, PMID:8178821, PMID:8227344, PMID:8589684, PMID:8673127, PMID:9225964, PMID:9361033, PMID:9758612, PMID:9806422, PMID:14499267, PMID:16825284, PMID:18952502, PMID:19179314, PMID:19830125, PMID:21664875, PMID:21865538, PMID:22409989, PMID:22447032, PMID:22764473, PMID:22968453, PMID:24033266, PMID:25525159, PMID:25741868, PMID:25875700, PMID:26255240, PMID:26376800, PMID:27129325, PMID:28492532, PMID:29744787, PMID:30290665 RGD:1300353 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 CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chrNW_004955452:11,254,853...11,275,587 JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:14602880, PMID:15546002, PMID:28492532 RGD:1549420 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD
ClinVar
PMID:15546002, PMID:28492532 NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990
JBrowse link
G Dclre1c DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
RGD
ClinVar
PMID:11336668, PMID:24033266, PMID:25741868 RGD:1601049 NCBI chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321
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 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 JBrowse link
G Il7r interleukin 7 receptor ISO autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 DNA:point_mutation:CDS:C->T, amino acid T66I
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
RGD
ClinVar
PMID:9843216, PMID:15661025, PMID:16492442, PMID:17827065, PMID:18255337, PMID:18403192, PMID:18641513, PMID:24759676, PMID:25741868, PMID:27833609, PMID:28492532 RGD:1600151 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 treatment ISO CTD Direct Evidence: marker/mechanism
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
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD
ClinVar
RGD
PMID:9354668, PMID:9427607, PMID:9753072, PMID:10900158, PMID:10982185, PMID:11213805, PMID:11668610, PMID:14615376, PMID:15220007, PMID:15661026, PMID:17433830, PMID:17644747, PMID:18559588, PMID:19203666, PMID:21184155, PMID:24033266, PMID:24728327, PMID:25146434, PMID:25741868, PMID:28492532 RGD:11531109 NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:9005853, PMID:9639450, PMID:10815160, PMID:11292420, PMID:11535458, PMID:11803488, PMID:11815346, PMID:12189160, PMID:12522550, PMID:12872267, PMID:17562996, PMID:17615537, PMID:19023451, PMID:20021252, PMID:22933836, PMID:23304066, PMID:24732711, PMID:25741868, PMID:30311386 NCBI chrNW_004955406:12,182,115...12,194,683
Ensembl chrNW_004955406:12,182,046...12,199,669
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO