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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 chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G WRN WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616805 NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO OMIM NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G LOC100978529 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 chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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 chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
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 chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ATM ATM serine/threonine kinase ISO OMIM NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
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 chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:23,994,256...24,014,244
Ensembl chr22:42,207,149...42,213,022
JBrowse link
G C11H11orf65 chromosome 11 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 chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100983381 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034
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 chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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 chr17:42,686,483...42,773,668
Ensembl chr17:47,475,201...47,507,282
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 chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G C11H11orf65 chromosome 11 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 chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
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 chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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 chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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 chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,623,932...69,628,130 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 chr19:45,056,737...45,110,867
Ensembl chr19:53,706,778...53,761,088
JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,648,220...69,682,408 JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502
JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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 chr10:44,703,720...44,784,948 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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO OMIM NCBI chr10:44,703,720...44,784,948 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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC5 ERCC excision repair 5, endonuclease ISO OMIM NCBI chr13:84,005,950...84,036,710 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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
JBrowse link
G POLR1G RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr19:42,354,919...42,359,537
Ensembl chr19:50,951,038...50,953,826
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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr13:84,005,950...84,036,710 JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
ClinVar Annotator: match by term: Progeroid nanism
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:insertion: :c.1034_1035insT (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 chr10:44,703,720...44,784,948 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
DNA:nonsense mutation: :p.Y322X (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:19894250, PMID:21108394, PMID:22466610, PMID:22466612 RGD:10401108, RGD:11064547 NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496
JBrowse link
G GHR growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr12:99,986,887...100,066,773 JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chr 5:52,843,931...53,053,671 JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254
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 chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496
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 chr 5:52,843,931...53,053,671 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 chr10:44,703,720...44,784,948 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 chr11:36,560,918...36,623,870
Ensembl chr11:36,433,630...36,496,483
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
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
G CORO1A coronin 1A ISO OMIM Ensembl chr16:30,550,383...30,556,196 JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,479,684...30,488,868 JBrowse link
G LOC100995352 keratin-associated protein 10-2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,450,467...30,464,446 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 chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124
JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,460,305...30,467,070 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,467,490...30,471,256 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 chr10:44,703,720...44,784,948 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 chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201
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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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 chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, transitions:exon, intron:multiple
RGD
ClinVar
CTD
PMID:1792455, PMID:2472832, PMID:8502512, PMID:08896563, PMID:09371798, 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 chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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 chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817
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:08348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10666230, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21520333, PMID:21659346, PMID:22482891, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551, PMID:32566746 RGD:11041907, RGD:11344914 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chr 6:35,012,076...35,027,018 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 chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176
JBrowse link
G FANCG FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9806458, PMID:9806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24033266, PMID:24136620, PMID:24584348, PMID:24728327, PMID:25703136, PMID:25741868, PMID:26689913, PMID:26968956, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:30031030 RGD:1599879 NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
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 chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr19:46,486,169...46,499,008 JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019
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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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 chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
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 chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
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 chr16:70,580,030...70,634,143
Ensembl chr16:90,273,160...90,299,061
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr16:70,636,413...70,675,841
Ensembl chr16:90,298,175...90,340,048
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 chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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 chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895
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 chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192
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 chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201
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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G FANCA FA complementation group A ISO OMIM NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817
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 chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
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 chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
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 chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
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 chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895
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 chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192
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 chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817
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 chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201
JBrowse link
G FANCC FA complementation group C ISO OMIM NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
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 chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
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 chr 6:35,012,076...35,027,018 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 chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176
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 chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
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 chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
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 chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
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 chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895
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 chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
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 chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
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 chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
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 chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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 chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207
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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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 chr 1:177,929,298...177,939,027
Ensembl chr 1:182,227,166...182,236,712
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 chr 7:144,229,031...144,256,854
Ensembl chr 7:156,378,685...156,406,516
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 chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526
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 chr16:55,187,178...55,233,265
Ensembl chr16:74,541,450...74,586,951
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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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 LOC100976787 mismatch repair endonuclease PMS2 ISO OMIM NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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 chr2A:47,926,629...48,026,245
Ensembl chr2A:48,830,780...48,886,300
JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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 chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
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 chr14:55,213,600...55,265,198
Ensembl chr14:74,060,653...74,112,165
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 chr14:55,554,516...55,561,201
Ensembl chr14:74,399,056...74,405,770
JBrowse link
G MLH3 mutL homolog 3 ISO OMIM NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
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 chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038
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 chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224
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 chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
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 chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
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 chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030
JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598
JBrowse link
G CD3D CD3d molecule ISO OMIM NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G CD3E CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
JBrowse link
G CD3G CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,273,198...113,364,404 JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,932,078...113,933,679 JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051
JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,856,661...113,861,855 JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389
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 chr 1:31,560,229...31,572,391
Ensembl chr 1:32,565,739...32,579,923
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 chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455
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 chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100971372 tyrosine-protein kinase ZAP-70 ISO OMIM NCBI chr2A:101,582,567...101,613,175
Ensembl chr2A:98,613,740...98,639,088
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 chr 8:44,387,529...44,404,773
Ensembl chr 8:41,778,247...41,794,783
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 chr12:119,229,069...119,243,435 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 chr 8:27,983,700...28,035,879
Ensembl chr 8:25,174,414...25,233,599
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 chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
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 chr17:43,609,146...43,619,713
Ensembl chr17:48,340,777...48,350,808
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 chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
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 chr17:43,336,764...43,349,787
Ensembl chr17:48,070,223...48,082,499
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 chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129
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 chr17:43,467,811...43,470,061
Ensembl chr17:48,200,155...48,201,228
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 chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
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 chr22:9,757,038...9,811,171 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 chr17:7,967,297...7,983,743
Ensembl chr17:7,953,660...7,970,148
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 chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537
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 chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752
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 chr17:7,737,297...7,743,732
Ensembl chr17:7,724,983...7,731,270
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 chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
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 chr17:43,530,919...43,537,999 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 chr17:7,956,961...7,965,450
Ensembl chr17:7,943,403...7,951,477
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 chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937
JBrowse link
G KRBA2 KRAB-A domain containing 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chr17:43,282,744...43,291,426
Ensembl chr17:48,021,804...48,024,433
JBrowse link
G LOC100970954 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 chr17:7,892,814...7,897,251
Ensembl chr17:7,879,163...7,883,719
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 chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932
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 chr17:43,313,586...43,320,058
Ensembl chr17:48,046,835...48,053,135
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 chr17:43,502,080...43,518,098
Ensembl chr17:48,234,360...48,250,391
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 chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
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 chr17:43,369,556...43,371,025
Ensembl chr17:48,101,744...48,103,394
JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chr17:7,948,370...7,951,882
Ensembl chr17:7,936,179...7,937,723
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 chr17:43,274,839...43,282,606
Ensembl chr17:48,009,198...48,015,977
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 chr17:43,364,198...43,369,582
Ensembl chr17:48,096,764...48,102,215
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 chr17:43,481,043...43,485,189
Ensembl chr17:48,214,392...48,217,773
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 chr17:7,889,870...7,891,032
Ensembl chr17:7,876,294...7,877,517
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni
ClinVar Annotator: match by term: Li-Fraumeni syndrome
DNA:missense mutations
CTD
ClinVar
RGD
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr17:7,965,454...7,967,172
Ensembl chr17:7,951,885...7,953,365
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 chr17:43,495,464...43,499,348 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 chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
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 chr22:9,757,038...9,811,171 JBrowse link
G TP53 tumor protein p53 ISO OMIM NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
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 chr22:9,757,038...9,811,171 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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr15:400,828...861,377
Ensembl chr15:26,915,381...27,176,793
JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component ISO OMIM NCBI chr15:550,856...552,543
Ensembl chr15:27,027,373...27,028,285
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 chr 7:7,418,406...7,433,020
Ensembl chr 7:6,203,329...6,221,202
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 chr 7:7,405,211...7,411,512
Ensembl chr 7:6,228,709...6,234,079
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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 chr 7:7,382,669...7,418,469
Ensembl chr 7:6,222,187...6,256,252
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr14:55,554,516...55,561,201
Ensembl chr14:74,399,056...74,405,770
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 chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038
JBrowse link
G EPM2AIP1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 3:36,894,383...36,899,772
Ensembl chr 3:37,187,354...37,189,177
JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr2A:47,926,629...48,026,245
Ensembl chr2A:48,830,780...48,886,300
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:9834266 RGD:12792228 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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 chr 3:36,959,065...37,082,971
Ensembl chr 3:37,248,015...37,371,448
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:08808596, 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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MLH3 mutL homolog 3 ISO DNA:point mutations:exon:Q24E, N499S, E624Q, E1451K
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Colorectal cancer, non-polyposis
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11586295, PMID:12702580, PMID:18521850, PMID:19156873, PMID:25637381, PMID:25741868, PMID:28492532, PMID:29212164 RGD:1600415 NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
JBrowse link
G MSH2 mutS homolog 2 ISO DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1061282, PMID:1710317, PMID:2695166, PMID:3616036, PMID:6096739, PMID:7557107, PMID:7585065, PMID:7713503, PMID:7717919, PMID:7726159, PMID:7874129, PMID:7937795, PMID:8062247, PMID:8261515, PMID:8521394, PMID:8566964, PMID:8574961, PMID:8581513, PMID:8589682, PMID:8592341, PMID:8613431, PMID:8723682, PMID:8808596, PMID:8872463, PMID:8880570, PMID:8895729, PMID:8931714, PMID:8993976, PMID:9002677, PMID:9036882, PMID:9052445, PMID:9087566, PMID:9125109, PMID:9217825, PMID:9222765, PMID:9240418, PMID:9288790, PMID:9298827, PMID:9311737, PMID:9506527, PMID:9611074, PMID:9621522, PMID:9634524, PMID:9709044, PMID:9718327, PMID:9739019, PMID:9774676, PMID:9777949, PMID:10023327, PMID:10051005, PMID:10077621, PMID:10080150, PMID:10196371, PMID:10323887, PMID:10369701, PMID:10375096, PMID:10397236, PMID:10404063, PMID:10413423, PMID:10422993, PMID:10432927, PMID:10446963, PMID:10448273, PMID:10469597, PMID:10480359, PMID:10495924, PMID:10523644, PMID:10528862, PMID:10530344, PMID:10564582, PMID:10573010, PMID:10612827, PMID:10612836, PMID:10712226, PMID:10713887, PMID:10732761, PMID:10777691, PMID:10793088, PMID:10812001, PMID:10874307, PMID:10874318, PMID:10882759, PMID:10978353, PMID:10995807, PMID:11074494, PMID:11112663, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11291077, PMID:11304573, PMID:11379475, PMID:11385712, PMID:11420466, PMID:11524701, PMID:11535541, PMID:11555625, PMID:11601928, PMID:11606497, PMID:11691782, PMID:11720433, PMID:11754112, PMID:11769729, PMID:11772966, PMID:11782355, PMID:11809679, PMID:11830542, PMID:11854906, PMID:11870161, PMID:11879922, PMID:11910346, PMID:11920458, PMID:11920650, PMID:11975096, PMID:12067992, PMID:12070261, PMID:12112654, PMID:12115348, PMID:12115503, PMID:12124176, PMID:12132870, PMID:12173039, PMID:12200596, PMID:12324578, PMID:12352241, PMID:12362047, PMID:12373605, PMID:12385013, PMID:12386821, PMID:12414824, PMID:12419761, PMID:12436451, PMID:12454801, PMID:12522549, PMID:12537652, PMID:12547705, PMID:12549480, PMID:12624141, PMID:12626904, PMID:12655562, PMID:12655564, PMID:12655568, PMID:12658575, PMID:12660027, PMID:12694232, PMID:12702580, PMID:12792735, PMID:12875840, PMID:12949792, PMID:14499697, PMID:14504054, PMID:14512394, PMID:14514376, PMID:14526391, PMID:14574162, PMID:14574163, PMID:14580774, PMID:14594944, PMID:14635101, PMID:14729822, PMID:14756672, PMID:14871915, PMID:14871975, PMID:14970868, PMID:14994245, PMID:15046089, PMID:15075785, PMID:15178966, PMID:15217520, PMID:15222003, PMID:15235030, PMID:15235034, PMID:15254659, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15350299, PMID:15365995, PMID:15365996, PMID:15516845, PMID:15520224, PMID:15520370, PMID:15527911, PMID:15571801, PMID:15655560, PMID:15680406, PMID:15713769, PMID:15731775, PMID:15845562, PMID:15849733, PMID:15855432, PMID:15862756, PMID:15872200, PMID:15926618, PMID:15929773, PMID:15942939, PMID:15943554, PMID:15945244, PMID:15955785, PMID:15991308, PMID:15991314, PMID:15996210, PMID:16015629, PMID:16034045, PMID:16086322, PMID:16116158, PMID:16142001, PMID:16143124, PMID:16175654, PMID:16181381, PMID:16199548, PMID:16203774, PMID:16216036, PMID:16237223, PMID:16251890, PMID:16311127, PMID:16327991, PMID:16341550, PMID:16395668, PMID:16408224, PMID:16423994, PMID:16425354, PMID:16451135, PMID:16476474, PMID:16479259, PMID:16500024, PMID:16534870, PMID:16574953, PMID:16614121, PMID:16616355, PMID:16636019, PMID:16639607, PMID:16736289, PMID:16803540, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16884359, PMID:16885385, PMID:16929514, PMID:16995940, PMID:16996571, PMID:17011982, PMID:17074586, PMID:17095871, PMID:17101317, PMID:17165155, PMID:17189986, PMID:17192056, PMID:17229076, PMID:17250661, PMID:17250665, PMID:17250671, PMID:17312306, PMID:17348456, PMID:17350822, PMID:17374836, PMID:17414604, PMID:17440950, PMID:17453009, PMID:17473388, PMID:17483304, PMID:17505997, PMID:17531815, PMID:17569143, PMID:17594722, PMID:17601929, PMID:17653898, PMID:17661183, PMID:17720936, PMID:17846840, PMID:17939062, PMID:18033691, PMID:18257912, PMID:18270343, PMID:18289827, PMID:18307539, PMID:18325052, PMID:18383312, PMID:18389388, PMID:18406877, PMID:18415027, PMID:18470917, PMID:18547406, PMID:18556772, PMID:18559331, PMID:18561205, PMID:18566915, PMID:18618713, PMID:18625694, PMID:18636359, PMID:18641418, PMID:18674656, PMID:18726168, PMID:18759827, PMID:18772310, PMID:18781192, PMID:18781619, PMID:18822302, PMID:18841495, PMID:18931482, PMID:18951462, PMID:18951465, PMID:18990764, PMID:19047842, PMID:19072991, PMID:19101824, PMID:19117025, PMID:19250818, PMID:19267393, PMID:19324997, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19659756, PMID:19669161, PMID:19669601, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19706203, PMID:19723918, PMID:19728162, PMID:19731080, PMID:19760518, PMID:19930554, PMID:20007843, PMID:20010080, PMID:20052760, PMID:20068152, PMID:20176959, PMID:20215533, PMID:20223024, PMID:20233461, PMID:20301390, PMID:20305446, PMID:20388775, PMID:20459533, PMID:20587412, PMID:20591884, PMID:20672385, PMID:20682701, PMID:20850175, PMID:20872076, PMID:20965939, PMID:21056691, PMID:21120944, PMID:21145788, PMID:21153778, PMID:21155023, PMID:21225464, PMID:21227399, PMID:21239990, PMID:21309037, PMID:21311894, PMID:21387278, PMID:21419771, PMID:21431882, PMID:21520333, PMID:21550136, PMID:21590452, PMID:21598002, PMID:21615986, PMID:21642682, PMID:21671081, PMID:21681552, PMID:21778331, PMID:21788563, PMID:21791569, PMID:21837758, PMID:21868491, PMID:21879275, PMID:21926548, PMID:22006311, PMID:22034109, PMID:22039344, PMID:22067334, PMID:22102614, PMID:22144684, PMID:22166501, PMID:22219001, PMID:22234272, PMID:22283331, PMID:22290698, PMID:22321913, PMID:22322191, PMID:22371642, PMID:22480969, PMID:22581703, PMID:22585170, PMID:22658618, PMID:22691310, PMID:22703879, PMID:22712459, PMID:22739024, PMID:22781090, PMID:22883484, PMID:22949379, PMID:22949387, PMID:22977643, PMID:22987205, PMID:22995991, PMID:23047549, PMID:23170986, PMID:23248292, PMID:23329266, PMID:23443670, PMID:23454724, PMID:23523604, PMID:23526924, PMID:23537056, PMID:23573243, PMID:23604856, PMID:23640085, PMID:23690608, PMID:23729658, PMID:23733757, PMID:23760103, PMID:23960188, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24078570, PMID:24082139, PMID:24090359, PMID:24100870, PMID:24114314, PMID:24194902, PMID:24240112, PMID:24244552, PMID:24278394, PMID:24310308, PMID:24323032, PMID:24326041, PMID:24344984, PMID:24362816, PMID:24393486, PMID:24396821, PMID:24415873, PMID:24474082, PMID:24501230, PMID:24506336, PMID:24549055, PMID:24603434, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24735542, PMID:24763289, PMID:24851142, PMID:24933000, PMID:24933100, PMID:24953332, PMID:25006859, PMID:25032700, PMID:25081409, PMID:25093288, PMID:25107687, PMID:25110875, PMID:25117502, PMID:25117503, PMID:25133505, PMID:25173403, PMID:25186627, PMID:25194673, PMID:25200962, PMID:25420488, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25569433, PMID:25637381, PMID:25639900, PMID:25648859, PMID:25701956, PMID:25712738, PMID:25741868, PMID:25782445, PMID:25871441, PMID:25872134, PMID:25964535, PMID:25980754, PMID:26053027, PMID:26076155, PMID:26094658, PMID:26096739, PMID:26182300, PMID:26202870, PMID:26247049, PMID:26248088, PMID:26250988, PMID:26270727, PMID:26289772, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26344056, PMID:26381082, PMID:26437257, PMID:26446363, PMID:26467025, PMID:26485756, PMID:26517685, PMID:26528695, PMID:26552419, PMID:26556299, PMID:26580448, PMID:26635394, PMID:26659599, PMID:26659639, PMID:26681312, PMID:26689913, PMID:26718727, PMID:26824983, PMID:26845104, PMID:26866578, PMID:26878173, PMID:26898890, PMID:26900293, PMID:26951660, PMID:26976419, PMID:27007491, PMID:27013479, PMID:27016151, PMID:27064304, PMID:27153395, PMID:27273229, PMID:27284491, PMID:27287813, PMID:27328445, PMID:27443514, PMID:27449771, PMID:27468915, PMID:27556954, PMID:27600092, PMID:27601186, PMID:27606285, PMID:27628256, PMID:27629256, PMID:27720647, PMID:27978560, PMID:28050010, PMID:28125075, PMID:28127413, PMID:28135145, PMID:28152038, PMID:28195393, PMID:28202063, PMID:28349240, PMID:28422960, PMID:28445943, PMID:28449805, PMID:28491141, PMID:28492532, PMID:28494185, PMID:28514183, PMID:28526081, PMID:28537014, PMID:28577310, PMID:28580595, PMID:28640387, PMID:28687971, PMID:28724667, PMID:28767289, PMID:28769567, PMID:28785832, PMID:28790115, PMID:28828701, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29020732, PMID:29050249, PMID:29164703, PMID:29192238, PMID:29212164, PMID:29238914, PMID:29333623, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29458332, PMID:29489754, PMID:29568967, PMID:29575718, PMID:29684080, PMID:29690800, PMID:29706558, PMID:29706640, PMID:29731845, PMID:29752822, PMID:29769598, PMID:29887214, PMID:29889250, PMID:29945567, PMID:30019097, PMID:30089731, PMID:30093976, PMID:30131383, PMID:30217226, PMID:30306255, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30376427, PMID:30521064, PMID:30702970, PMID:30742731, PMID:30798936, PMID:30850667, PMID:30998989, PMID:31101557, PMID:31307542, PMID:31366136, PMID:31386297, PMID:31422574, PMID:31647837, PMID:32566746, PMID:32587781, PMID:206672385 RGD:1625106 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G MSH6 mutS homolog 6 ISO DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
ClinVar Annotator: match by term: Lynch syndrome I
CTD Direct Evidence: marker/mechanism
HNPCC5, DNA:deletion:exon:L222X
RGD
ClinVar
CTD
PMID:1548301, PMID:1734424, PMID:1736038, PMID:1851154, PMID:1958276, PMID:2059188, PMID:2563738, PMID:5559809, PMID:7604266, PMID:8063241, PMID:8176851, PMID:8838326, PMID:9307272, PMID:9354786, PMID:9774676, PMID:9819445, PMID:9929971, PMID:10348829, PMID:10413423, PMID:10471527, PMID:10507723, PMID:10508506, PMID:10521294, PMID:10537275, PMID:10612827, PMID:10675480, PMID:10699937, PMID:10938287, PMID:11153917, PMID:11470537, PMID:11479205, PMID:11586295, PMID:11641390, PMID:11709755, PMID:11807791, PMID:11900875, PMID:12019211, PMID:12202775, PMID:12376507, PMID:12376742, PMID:12522549, PMID:12537658, PMID:12547705, PMID:12658575, PMID:12732731, PMID:14520694, PMID:14574004, PMID:14585961, PMID:14871975, PMID:14961575, PMID:14974087, PMID:15098177, PMID:15184898, PMID:15217520, PMID:15236168, PMID:15340264, PMID:15354210, PMID:15365995, PMID:15483016, PMID:15571801, PMID:15805151, PMID:15837969, PMID:15872200, PMID:15952900, PMID:16010685, PMID:16034045, PMID:16203774, PMID:16237223, PMID:16270383, PMID:16283678, PMID:16283884, PMID:16341805, PMID:16360201, PMID:16408224, PMID:16418736, PMID:16464007, PMID:16525781, PMID:16636019, PMID:16638864, PMID:16736289, PMID:16771955, PMID:16807412, PMID:16885385, PMID:16929514, PMID:16940983, PMID:17117178, PMID:17199584, PMID:17205513, PMID:17259933, PMID:17323113, PMID:17344846, PMID:17417778, PMID:17440981, PMID:17453009, PMID:17498565, PMID:17531815, PMID:17557300, PMID:17594722, PMID:17653898, PMID:17661183, PMID:17718861, PMID:17854147, PMID:17909073, PMID:18033691, PMID:18067074, PMID:18176851, PMID:18236172, PMID:18269114, PMID:18301448, PMID:18307539, PMID:18355840, PMID:18389388, PMID:18409202, PMID:18415027, PMID:18417481, PMID:18521850, PMID:18523027, PMID:18550572, PMID:18566915, PMID:18625694, PMID:18701435, PMID:18790734, PMID:18809606, PMID:19072991, PMID:19130300, PMID:19194194, PMID:19250818, PMID:19324997, PMID:19389263, PMID:19459153, PMID:19526325, PMID:19575290, PMID:19659577, PMID:19685280, PMID:19685281, PMID:19698169, PMID:19766128, PMID:19781088, PMID:19851887, PMID:19924528, PMID:19931546, PMID:20007843, PMID:20028993, PMID:20045164, PMID:20149637, PMID:20176959, PMID:20379851, PMID:20487569, PMID:20587412, PMID:20591884, PMID:20682701, PMID:20924129, PMID:20937110, PMID:21039432, PMID:21056691, PMID:21081928, PMID:21120944, PMID:21153778, PMID:21155762, PMID:21247423, PMID:21437237, PMID:21520333, PMID:21642682, PMID:21671081, PMID:21674763, PMID:21836479, PMID:21868491, PMID:22006311, PMID:22081473, PMID:22102614, PMID:22144684, PMID:22180424, PMID:22219001, PMID:22250089, PMID:22283331, PMID:22290698, PMID:22480969, PMID:22495361, PMID:22581703, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22734033, PMID:22766992, PMID:22810696, PMID:22851212, PMID:22895193, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23104009, PMID:23263490, PMID:23294250, PMID:23354634, PMID:23523604, PMID:23530095, PMID:23541221, PMID:23544471, PMID:23554159, PMID:23612316, PMID:23621914, PMID:23652311, PMID:23700467, PMID:23729658, PMID:23733757, PMID:23757202, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24068316, PMID:24072394, PMID:24073290, PMID:24100870, PMID:24244552, PMID:24278394, PMID:24323032, PMID:24362816, PMID:24393486, PMID:24425144, PMID:24440087, PMID:24448499, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24737826, PMID:24763289, PMID:24933000, PMID:24933100, PMID:25006859, PMID:25081409, PMID:25093288, PMID:25110875, PMID:25111426, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25186627, PMID:25194673, PMID:25224212, PMID:25231023, PMID:25307252, PMID:25318351, PMID:25318681, PMID:25370038, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25536104, PMID:25559809, PMID:25561518, PMID:25617771, PMID:25637381, PMID:25648859, PMID:25670083, PMID:25701956, PMID:25741868, PMID:25751794, PMID:25782445, PMID:25801821, PMID:25871441, PMID:25980754, PMID:25985138, PMID:26023681, PMID:26046366, PMID:26099011, PMID:26177554, PMID:26181448, PMID:26206375, PMID:26270727, PMID:26274037, PMID:26300997, PMID:26318770, PMID:26332594, PMID:26333163, PMID:26374070, PMID:26436109, PMID:26436112, PMID:26437257, PMID:26440929, PMID:26457233, PMID:26467025, PMID:26483394, PMID:26485756, PMID:26517685, PMID:26530882, PMID:26544533, PMID:26552419, PMID:26580448, PMID:26633542, PMID:26648449, PMID:26666765, PMID:26674132, PMID:26681312, PMID:26687385, PMID:26689913, PMID:26720728, PMID:26787237, PMID:26805314, PMID:26811195, PMID:26832770, PMID:26845104, PMID:26866578, PMID:26888055, PMID:26898890, PMID:26900293, PMID:26901136, PMID:26976419, PMID:27013479, PMID:27028851, PMID:27060149, PMID:27064304, PMID:27153395, PMID:27165744, PMID:27273229, PMID:27329137, PMID:27432916, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27456091, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27696107, PMID:27714650, PMID:27723366, PMID:27854360, PMID:27878467, PMID:27920101, PMID:27928858, PMID:27978560, PMID:28125075, PMID:28135145, PMID:28152038, PMID:28153049, PMID:28176205, PMID:28195393, PMID:28206961, PMID:28283864, PMID:28323777, PMID:28369758, PMID:28449805, PMID:28460341, PMID:28466842, PMID:28481244, PMID:28492532, PMID:28502729, PMID:28503720, PMID:28514183, PMID:28528517, PMID:28528518, PMID:28531214, PMID:28596308, PMID:28687356, PMID:28724667, PMID:28765196, PMID:28767289, PMID:28873162, PMID:28874130, PMID:28878254, PMID:28922847, PMID:28944238, PMID:29107668, PMID:29212164, PMID:29263802, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29575718, PMID:29596542, PMID:29659569, PMID:29684080, PMID:29750335, PMID:29753700, PMID:29785566, PMID:29880898, PMID:29887214, PMID:29915797, PMID:29922827, PMID:29946849, PMID:29967336, PMID:30013564, PMID:30128536, PMID:30306255, PMID:30311386, PMID:30374176, PMID:30376427, PMID:30498870, PMID:30521064, PMID:30670635, PMID:31100584, PMID:31204389, PMID:31297337, PMID:31307542, PMID:31391288, PMID:31422818, PMID:31666926, PMID:31965077, PMID:32141610, PMID:32566746, PMID:32773772 RGD:1600460, RGD:1625106 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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 chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942
JBrowse link
G NUDC nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer ClinVar NCBI chr 1:26,184,232...26,207,412
Ensembl chr 1:27,239,574...27,267,360
JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr2B:77,076,432...77,090,531
Ensembl chr2B:194,996,437...195,009,102
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 chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492
JBrowse link
G RNASEL ribonuclease L onset ISO DNA:substitution:cds:amino acid R462G RGD PMID:16054567 RGD:2292000 NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G STPG4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:30374176 NCBI chr2A:47,201,536...47,271,253
Ensembl chr2A:48,131,547...48,199,596
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
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 chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
JBrowse link
G TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 3:36,732,939...36,852,023
Ensembl chr 3:37,024,909...37,102,299
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 chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038
JBrowse link
G KCNK12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome I ClinVar NCBI chr2A:47,635,456...47,690,792 JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492
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 chr17:21,666,236...21,693,886
Ensembl chr17:21,958,212...21,978,406
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 chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO OMIM NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
JBrowse link
G TAPBP TAP binding protein ISO OMIM NCBI chr 6:32,871,768...32,886,679
Ensembl chr 6:33,986,058...34,000,190
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 chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar PMID:28492532 NCBI chr19:18,639,380...18,641,725
Ensembl chr19:19,640,163...19,642,179
JBrowse link
G RFX5 regulatory factor X5 ISO OMIM NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO OMIM NCBI chr19:18,630,221...18,639,840
Ensembl chr19:19,631,847...19,640,619
JBrowse link
G RFXAP regulatory factor X associated protein ISO OMIM NCBI chr13:18,029,873...18,039,752
Ensembl chr13:36,461,048...36,470,935
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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
Nijmegen breakage syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DECR1 2,4-dienoyl-CoA reductase 1 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:28492532 NCBI chr 8:86,690,816...86,755,379
Ensembl chr 8:88,642,172...88,693,224
JBrowse link
G NBN nibrin ISO OMIM NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
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 chr 8:86,590,912...86,616,817
Ensembl chr 8:88,543,550...88,569,069
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 chr 5:127,972,630...128,059,911 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 chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991
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 chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
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 chr 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621
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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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 chr2A:90,143,737...90,262,215 JBrowse link
severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
RGD
ClinVar
PMID:498598, PMID:980079, PMID:1284479, PMID:2166947, PMID:2651461, PMID:2758612, PMID:2783588, PMID:3839802, PMID:6208479, PMID:7599635, PMID:8023852, PMID:8178821, PMID:8227344, PMID:8589684, PMID:8673127, PMID:9225964, PMID:9361033, PMID:9758612, PMID:9806422, PMID:14499267, PMID:16825284, PMID:18952502, PMID:19179314, PMID:19830125, PMID:21664875, PMID:21865538, PMID:22409989, PMID:22447032, PMID:22764473, PMID:22968453, PMID:24033266, PMID:25525159, PMID:25741868, PMID:25875700, PMID:26255240, PMID:26376800, PMID:27129325, PMID:28492532, PMID:29744787, PMID:30290665 RGD:1300353 NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G AK2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chr 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621
JBrowse link
G CD3D CD3d molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD
ClinVar
RGD
PMID:14602880, PMID:15546002, PMID:28492532 RGD:1549420 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
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 chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
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 chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043
JBrowse link
G EPO erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G IL2 interleukin 2 ISO mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:60,375,815...60,386,936 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