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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_004936664:3,649,020...3,656,545 JBrowse link
G Recql4 RecQ like helicase 4 ISO RGD PMID:25859855 RGD:13207506 NCBI chrNW_004936470:7,755,253...7,761,705 JBrowse link
G Wrn WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616805 NCBI chrNW_004936792:862,659...1,005,065 JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chrNW_004936722:967,443...991,530 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_004936533:1,817,135...1,827,393 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_004936551:594,647...626,016 JBrowse link
G Atm ATM serine/threonine kinase ISO OMIM NCBI chrNW_004936551:359,134...534,672 JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chrNW_004936476:25,347,608...25,354,772 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_004936664:2,968,103...2,973,652 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_004936551:305,617...343,369 JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chrNW_004936745:1,730,743...1,942,071 JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G LOC101974563 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chrNW_004936551:534,879...585,674 JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23755103, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24093751, PMID:24549055, PMID:24556621, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26057807, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26757417, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27153395, PMID:27329137, PMID:27433846, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28524162, PMID:28559769, PMID:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chrNW_004936674:466,495...528,072 JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936485:13,766,221...13,771,215 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_004936595:2,029,074...2,053,954 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_004936664:3,649,020...3,656,545 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_004936551:359,134...534,672 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_004936551:305,617...343,369 JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO OMIM NCBI chrNW_004936674:466,495...528,072 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_004936485:13,766,221...13,771,215 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_004936483:16,194,092...16,295,803 JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,123,938...16,135,044 JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,136,099...16,147,945 JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,090,191...16,092,442 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_004936664:2,242,916...2,276,286 JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,096,522...16,116,402 JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,034,577...16,061,856 JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,049,288...16,071,275 JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,072,421...16,087,286 JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chrNW_004936769:911,296...922,770 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_004936728:706,499...843,447 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_004936706:1,816,561...1,829,638 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO OMIM NCBI chrNW_004936728:706,499...843,447 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_004936706:1,816,561...1,829,638 JBrowse link
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968680 DNA repair protein complementing XP-G cells ISO OMIM NCBI chrNW_004936472:8,209,482...8,234,696 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_004936706:1,854,938...1,867,521 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_004936706:1,852,350...1,854,921 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_004936706:1,854,938...1,867,521 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_004936706:1,816,561...1,829,638 JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chrNW_004936469:43,970,002...43,998,279 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO DNA:insertion: :c.1034_1035insT (human)
ClinVar Annotator: match by term: Progeroid nanism
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
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_004936728:706,499...843,447 JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Y322X (human)
RGD
ClinVar
CTD
PMID:19894250, PMID:21108394, PMID:22466610, PMID:22466612 RGD:10401108, RGD:11064547 NCBI chrNW_004936480:7,560,055...7,609,650 JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004936518:235,996...380,225 JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G LOC101968680 DNA repair protein complementing XP-G cells ISO RGD PMID:15082767 RGD:10401090 NCBI chrNW_004936472:8,209,482...8,234,696 JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chrNW_004936480:7,385,986...7,559,937 JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chrNW_004936524:6,467,365...6,493,556 JBrowse link
Cockayne Syndrome A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO OMIM NCBI chrNW_004936480:7,560,055...7,609,650 JBrowse link
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_004936480:7,385,986...7,559,937 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_004936728:706,499...843,447 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_004936533:1,746,762...1,805,191 JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chrNW_004936533:1,817,135...1,827,393 JBrowse link
G Rag2 recombination activating 2 ISO OMIM NCBI chrNW_004936533:1,801,207...1,807,431 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_004936501:12,418,090...12,423,959 JBrowse link
G Coro1a coronin 1A ISO OMIM NCBI chrNW_004936501:12,338,542...12,344,236 JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004936501:12,391,204...12,397,877 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004936501:12,342,670...12,390,650 JBrowse link
G Ppp4c protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004936501:12,407,968...12,416,057 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_004936482:7,721,815...7,723,395 JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004936501:12,402,709...12,407,571 JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chrNW_004936501:12,399,323...12,402,349 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_004936728:706,499...843,447 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 anemia
ClinVar Annotator: match by term: Fanconi's 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_004936626:3,704,474...3,973,913 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_004936472:26,945,659...27,017,693 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_004936490:3,001,445...3,139,538 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_004936602:3,147,773...3,155,739 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 anemia, complementation group A
ClinVar Annotator: match by term: Fanconi's anemia
DNA:deletions, transitions:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutations:exon, intron:multiple
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_004936641:281,119...319,796 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_004936470:4,305,220...4,323,456 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
CTD Direct Evidence: marker/mechanism
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
RGD
ClinVar
CTD
PMID:1574115, PMID:1641028, PMID:7492758, PMID:7689011, PMID:8081385, PMID:8103176, PMID:8128956, PMID:8348157, 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_004936626:3,980,311...4,147,042 JBrowse link
G Fancd2 FA complementation group D2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
CTD
ClinVar
RGD
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_004936602:3,162,177...3,220,468 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327, PMID:25741868, PMID:28492532 NCBI chrNW_004936602:3,160,505...3,161,374 JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chrNW_004936476:23,783,161...23,794,646 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_004936654:3,298,193...3,301,251 JBrowse link
G Fancg FA complementation group G ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
FANCG, OMIM:602956
CTD
ClinVar
RGD
PMID:9806458, PMID:09806548, 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_004936524:3,103,912...3,110,246 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_004936483:15,096,215...15,179,856 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_004936491:4,057,312...4,119,966 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's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
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_004936583:4,085,802...4,145,621 JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chrNW_004936664:3,343,541...3,351,590 JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chrNW_004936641:193,885...198,730 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_004936501:8,246,927...8,273,258 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:15477547, PMID: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_004936483:15,178,947...15,196,277 JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chrNW_004936521:8,057,874...8,060,695 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919 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_004936490:4,440,638...4,473,301 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_004936694:720,585...744,477 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_004936641:236,135...246,004 JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chrNW_004936641:202,522...232,962 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_004936727:1,936,066...1,937,766 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_004936524:3,085,959...3,102,461 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936602:3,135,790...3,140,622 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_004936491:3,956,171...4,057,753 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_004936641:305,423...332,312 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_004936626:3,704,474...3,973,913 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_004936490:17,735,444...17,801,456 JBrowse link
G Fanca FA complementation group A ISO OMIM NCBI chrNW_004936641:281,119...319,796 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_004936470:4,305,220...4,323,456 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_004936626:3,980,311...4,147,042 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_004936602:3,162,177...3,220,468 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar NCBI chrNW_004936602:3,160,505...3,161,374 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chrNW_004936524:3,103,912...3,110,246 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_004936483:15,096,215...15,179,856 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_004936491:4,057,312...4,119,966 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_004936583:4,085,802...4,145,621 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_004936694:720,585...744,477 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_004936491:3,956,171...4,057,753 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_004936641:305,423...332,312 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_004936470:4,305,220...4,323,456 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_004936626:3,704,474...3,973,913 JBrowse link
G Fancc FA complementation group C ISO OMIM NCBI chrNW_004936626:3,980,311...4,147,042 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_004936472:26,945,659...27,017,693 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_004936602:3,162,177...3,220,468 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_004936602:3,160,505...3,161,374 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_004936476:23,783,161...23,794,646 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_004936654:3,298,193...3,301,251 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_004936524:3,103,912...3,110,246 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_004936524:3,085,959...3,102,461 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_004936483:15,096,215...15,179,856 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_004936483:15,178,947...15,196,277 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_004936490:3,001,445...3,139,538 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_004936491:4,057,312...4,119,966 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_004936491:3,956,171...4,057,753 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_004936583:4,085,802...4,145,621 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_004936501:8,246,927...8,273,258 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_004936490:4,440,638...4,473,301 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_004936694:720,585...744,477 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_004936501:2,301,072...2,329,346 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_004936471:4,119,020...4,136,811 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_004936490:17,735,444...17,801,456 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_004936567:2,222,317...2,226,725 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_004936527:7,760,609...7,785,360 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_004936474:538,703...542,901 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_004936475:23,544,974...23,586,716 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_004936473:26,556,636...26,600,830 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_004936750:439,396...468,747 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_004936565:1,596,227...1,746,706 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_004936508:4,622,695...4,708,694 JBrowse link
G Msh6 mutS homolog 6 ISO OMIM NCBI chrNW_004936508:4,708,661...4,728,671 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_004936473:21,324,669...21,409,430 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_004936488:3,835,021...3,882,055 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_004936488:4,150,504...4,156,483 JBrowse link
G Mlh3 mutL homolog 3 ISO OMIM NCBI chrNW_004936488:4,164,322...4,195,408 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_004936508:5,019,513...5,032,610 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_004936498:849,775...1,063,552 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_004936823:580,438...621,298 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_004936785:358,128...406,751 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_004936542:3,605,553...3,634,889 JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,453,287...3,461,125 JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,873,530...3,902,871 JBrowse link
G Cd3d CD3d molecule ISO OMIM NCBI chrNW_004936542:3,400,129...3,403,628 JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,379,361...3,390,677 JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,405,084...3,412,104 JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,965,259...3,974,736 JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,860,536...3,872,528 JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,748,599...3,781,405 JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:4,049,107...4,054,100 JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,943,174...3,951,473 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:4,037,888...4,046,089 JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:4,005,616...4,018,135 JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,577,387...3,597,954 JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,099,484...3,113,159 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,284,445...3,312,190 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,480,071...3,566,823 JBrowse link
G LOC101966907 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:4,046,930...4,049,017 JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,332,822...3,344,663 JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,314,921...3,332,785 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_004936542:3,639,992...3,688,000 JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,974,796...3,977,155 JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,262,161...3,274,545 JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,236,238...3,252,550 JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,980,538...3,987,039 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,569,735...3,575,987 JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,180,260...3,216,208 JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,977,223...3,980,168 JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,688,086...3,702,067 JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,567,469...3,571,393 JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chrNW_004936542:3,929,555...3,931,754 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_004936542:4,022,928...4,035,577 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_004936474:15,293,115...15,314,072 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_004936474:22,611,037...22,633,208 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_004936590:4,722,914...4,887,615 JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971458 tyrosine-protein kinase ZAP-70 ISO OMIM NCBI chrNW_004936744:1,000,105...1,012,712 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_004936590:4,705,028...4,722,320 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_004936558:2,730,098...2,743,062 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_004936675:1,448,381...1,479,735 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_004936595:1,310,556...1,321,974 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_004936595:1,279,944...1,288,321 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_004936595:1,329,492...1,350,914 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_004936595:1,531,694...1,545,206 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_004936595:1,435,601...1,437,423 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_004936595:1,417,718...1,420,480 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_004936595:1,131,198...1,154,615 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_004936657:2,805,947...2,848,180 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_004936595:1,174,559...1,191,171 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_004936595:1,456,911...1,476,331 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_004936595:970,004...1,076,582 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_004936595:954,383...960,573 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_004936595:1,235,747...1,250,294 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_004936595:1,352,621...1,355,177 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_004936595:1,164,609...1,172,964 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_004936595:1,077,318...1,099,082 JBrowse link
G LOC101959443 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_004936595:1,102,009...1,103,965 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_004936595:1,100,774...1,101,909 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_004936595:1,560,859...1,568,037 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_004936595:1,366,883...1,382,138 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_004936595:1,483,688...1,499,716 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_004936595:1,513,855...1,515,300 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_004936595:1,603,913...1,609,125 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_004936595:1,515,279...1,519,466 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_004936595:1,404,017...1,406,756 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_004936595:1,099,126...1,100,226 JBrowse link
G Tp53 tumor protein p53 ISO DNA:missense mutations
ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni
ClinVar Annotator: match by term: Li-Fraumeni syndrome
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_004936595:919,807...935,367 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_004936595:1,172,957...1,174,517 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_004936595:1,385,692...1,389,484 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_004936595:936,184...952,784 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_004936657:2,805,947...2,848,180 JBrowse link
G Tp53 tumor protein p53 ISO OMIM NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chrNW_004936595:936,184...952,784 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_004936657:2,805,947...2,848,180 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_004936595:919,807...935,367 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_004936483:1,316,542...1,424,463 JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO OMIM NCBI chrNW_004936483:1,433,119...1,434,506 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_004936750:430,780...439,247 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_004936750:418,962...422,621 JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chrNW_004936533:2,949,026...3,033,166 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_004936750:389,913...430,783 JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chrNW_004936488:4,150,504...4,156,483 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_004936508:5,019,513...5,032,610 JBrowse link
G Epm2aip1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004936473:26,548,847...26,556,334 JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004936508:4,622,695...4,708,694 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_004936473:26,602,373...26,692,507 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_004936473:26,556,636...26,600,830 JBrowse link
G Mlh3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism
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
DNA:point mutations:exon:Q24E, N499S, E624Q, E1451K
CTD
ClinVar
RGD
PMID:11586295, PMID:12702580, PMID:18521850, PMID:19156873, PMID:25637381, PMID:25741868, PMID:28492532, PMID:29212164 RGD:1600415 NCBI chrNW_004936488:4,164,322...4,195,408 JBrowse link
G Msh2 mutS homolog 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Lynch syndrome
DNA:mutations:premature translation termination
CTD
ClinVar
RGD
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_004936508:4,943,987...5,013,356 JBrowse link
G Msh6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer
ClinVar Annotator: match by term: Lynch syndrome
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: Lynch syndrome I
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
HNPCC5, DNA:deletion:exon:L222X
DNA:mutations:premature translation termination
CTD
ClinVar
RGD
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_004936508:4,708,661...4,728,671 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_004936474:11,316,857...11,319,669 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_004936474:11,327,986...11,341,357 JBrowse link
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004936506:8,197,116...8,208,712 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_004936506:8,118,816...8,197,040 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_004936750:439,396...468,747 JBrowse link
G Rnasel ribonuclease L onset ISO DNA:substitution:cds:amino acid R462G RGD PMID:16054567 RGD:2292000 NCBI chrNW_004936481:7,165,400...7,177,342 JBrowse link
G Smad2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chrNW_004936497:14,723,199...14,812,160 JBrowse link
G Smad3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chrNW_004936471:27,080,662...27,185,861 JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Stpg4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:30374176 NCBI chrNW_004936508:5,229,734...5,267,094 JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004936524:7,656,523...7,680,043 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_004936473:21,324,669...21,409,430 JBrowse link
G Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chrNW_004936473:26,403,786...26,481,284 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_004936508:5,019,513...5,032,610 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_004936508:4,872,922...4,918,728 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_004936473:26,556,636...26,600,830 JBrowse link
G Msh2 mutS homolog 2 ISO OMIM NCBI chrNW_004936508:4,943,987...5,013,356 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_004936508:4,708,661...4,728,671 JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936506:8,118,816...8,197,040 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_004936750:439,396...468,747 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_004936538:119,409...132,830 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_004936476:25,899,514...25,907,690 JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO OMIM NCBI chrNW_004936476:25,913,699...25,923,419 JBrowse link
G Tapbp TAP binding protein ISO OMIM NCBI chrNW_004936476:25,554,186...25,566,634 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_004936530:9,033,510...9,073,341 JBrowse link
G Nr2c2ap nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar PMID:28492532 NCBI chrNW_004936596:2,223,907...2,225,434 JBrowse link
G Rfx5 regulatory factor X5 ISO OMIM NCBI chrNW_004936580:1,532,806...1,540,353 JBrowse link
G Rfxank regulatory factor X associated ankyrin containing protein ISO OMIM NCBI chrNW_004936596:2,225,423...2,231,504 JBrowse link
G Rfxap regulatory factor X associated protein ISO OMIM NCBI chrNW_004936472:30,959,399...30,964,863 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_004936473:26,556,636...26,600,830 JBrowse link
G Msh2 mutS homolog 2 ISO OMIM NCBI chrNW_004936508:4,943,987...5,013,356 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_004936544:3,816,543...3,853,288 JBrowse link
G Nbn nibrin ISO OMIM NCBI chrNW_004936544:3,773,828...3,812,673 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_004936544:3,737,417...3,762,536 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_004936647:2,546,100...2,637,524 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_004936613:1,467,797...1,501,107 JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chrNW_004936533:1,817,135...1,827,393 JBrowse link
G Rag2 recombination activating 2 ISO OMIM NCBI chrNW_004936533:1,801,207...1,807,431 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_004936706:1,816,561...1,829,638 JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chrNW_004936478:15,421,612...15,423,894 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_004936470:7,755,253...7,761,705 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_004936533:1,801,207...1,807,431 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_004936474:15,887,014...15,908,522 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_004936508:4,943,987...5,013,356 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_004936470:7,755,253...7,761,705 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_004936783:509,287...591,153 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_004936470:7,755,253...7,761,705 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_004936470:7,755,253...7,761,705 JBrowse link
severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chrNW_004936474:15,887,014...15,908,522 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_004936542:3,400,129...3,403,628 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_004936542:3,379,361...3,390,677 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_004936613:1,467,797...1,501,107 JBrowse link
G Epo erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Il2 interleukin 2 ISO mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chrNW_004936762:487,414...491,028 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 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
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_004936518:5,815,820...5,842,571 JBrowse link
G Jak3 Janus kinase 3 treatment ISO 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
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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_004936596:3,212,593...3,224,426 JBrowse link
G LOC101971458 tyrosine-protein kinase ZAP-70 ISO selective T-cell defect, OMIM:176947
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8124727, PMID:8202713 RGD:1599880 NCBI chrNW_004936744:1,000,105...1,012,712 JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chrNW_004936722:967,443...991,530 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_004936481:15,544,733...15,556,813 JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO RGD PMID:9122213, PMID:22981234 RGD:1599202, RGD:8696027 NCBI chrNW_004936590:4,722,914...4,887,615 JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO DNA:deletion RGD PMID:11145714 RGD:1599983 NCBI chrNW_004936567:5,266,653...5,378,464 JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868, PMID:28492532, PMID:30723080 NCBI chrNW_004936492:3,726,375...3,737,961 JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
missense mutations in both genes Omenn syndrome, OMIM:179615 , OMIM:179616
RGD
ClinVar
PMID:8810255, PMID:9630231, PMID:11133745, PMID:11213808, PMID:11520796, PMID:11908269, PMID:11971977, PMID:17075247, PMID:17572155, PMID:18463379, PMID:18768869, PMID:20956421, PMID:21664875, PMID:23136839, PMID:24144642, PMID:24290284, PMID:24406074, PMID:25516070, PMID:25741868, PMID:25869295, PMID:26186701, PMID:26476733, PMID:26596586, PMID:27484032, PMID:28492532, PMID:30290665 RGD:1599402, RGD:1599403, RGD:7204131 NCBI chrNW_004936533:1,817,135...1,827,393 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
RGD
ClinVar
PMID:8810255, PMID:15025726, PMID:20603253, PMID:21131235, PMID:24174341, PMID:24481607, PMID:25741868, PMID:26457731, PMID:26476733, PMID:26515615, PMID:28492532, PMID:28747913, PMID:28769923, PMID:29051008, PMID:29772310, PMID:30206106, PMID:30307608 RGD:1599402,