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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 chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150
JBrowse link
G RECQL4 RecQ like helicase 4 ISO RGD PMID:25859855 RGD:13207506 NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753
JBrowse link
G WRN WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616805 NCBI chr16:33,164,662...33,304,466
Ensembl chr16:33,167,364...33,304,625
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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, 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 chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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 chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660
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 chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ATM ATM serine/threonine kinase ISO OMIM NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr10:22,417,374...22,433,055 JBrowse link
G C5H11orf65 chromosome 5 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 chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 5:24,297,419...24,360,461
Ensembl chr 5:24,296,653...24,346,935
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 chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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 chr 5:33,538,354...33,604,984
Ensembl chr 5:33,532,708...33,604,984
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 chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150
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 chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G C5H11orf65 chromosome 5 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 chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
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 chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
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 chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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 chr 3:53,408,120...53,506,728
Ensembl chr 3:53,408,217...53,473,146
JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,346,975...53,356,547
Ensembl chr 3:53,347,012...53,356,516
JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,357,491...53,368,285
Ensembl chr 3:53,358,045...53,365,423
JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,310,364...53,312,034
Ensembl chr 3:53,310,404...53,311,693
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 chr 1:108,105,523...108,143,954
Ensembl chr 1:108,105,987...108,143,953
JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,319,938...53,338,538
Ensembl chr 3:53,322,299...53,338,598
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,252,893...53,279,717
Ensembl chr 3:53,253,626...53,279,211
JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,287,343...53,292,673 JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067
JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr26:17,900,354...17,911,126
Ensembl chr26:17,901,357...17,911,288
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 chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
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 chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO OMIM NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
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 chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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 chr22:52,339,011...52,372,618 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 chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G POLR1G RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:110,146,495...110,149,338
Ensembl chr 1:110,146,012...110,149,186
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 chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
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 chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr19:23,310,911...23,344,083
Ensembl chr19:23,310,986...23,337,683
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr22:52,339,011...52,372,618 JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progeroid nanism
ClinVar Annotator: match by term: Cockayne syndrome
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
DNA:insertion: :c.1034_1035insT (human)
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
CTD
ClinVar
RGD
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 chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
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 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889
JBrowse link
G GHR growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065
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 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889
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 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696
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 chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
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 chr18:31,553,965...31,618,147
Ensembl chr18:31,556,023...31,618,123
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr18:31,614,143...31,621,489
Ensembl chr18:31,618,481...31,620,064
JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:18,077,241...18,083,053 JBrowse link
G CORO1A coronin 1A ISO OMIM NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854
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 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993
JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636
JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068
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 chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
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 chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
JBrowse link
G C1H9orf3 chromosome 1 open reading frame, human C9orf3 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 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G FANCA FA complementation group A disease_progression 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 anemia, complementation group A
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
CTD
ClinVar
RGD
PMID:1792455, PMID:2472832, PMID:8502512, PMID:08896563, PMID:9371798, PMID:09399890, PMID:9711872, PMID:9721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11110674, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12827451, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16015582, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16445838, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:19423727, PMID:21273304, PMID:21279724, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22482891, PMID:22720145, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24689079, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25239263, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25703136, PMID:25741868, PMID:25751062, PMID:26136524, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26689913, PMID:26740942, PMID:26799702, PMID:26841305, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28687356, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29797310, PMID:29904161, PMID:30031030, PMID:30032139, PMID:30086788, PMID:30311386 RGD:11344899, RGD:11344914, RGD:11344919 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
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:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
G FANCC FA complementation group C onset ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
DNA:deletion: :322delG (human)
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
CTD
ClinVar
RGD
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 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G FANCD2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11239453, PMID:14667412, PMID:17308347, PMID:17436244, PMID:19287902, PMID:21356188, PMID:22720145, PMID:22828868, PMID:23613520, PMID:24033266, PMID:24728327, PMID:25703294, PMID:25741868, PMID:27041517, PMID:28202063, PMID:28492532, PMID:28678401 RGD:11344904, RGD:1601137 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405
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 chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
JBrowse link
G FANCG FA complementation group G ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
FANCG, OMIM:602956
CTD
ClinVar
RGD
PMID:9806458, PMID:09806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24033266, PMID:24136620, PMID:24584348, PMID:24728327, PMID:25703136, PMID:25741868, PMID:26689913, PMID:26968956, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:30031030 RGD:1599879 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
JBrowse link
G FANCM FA complementation group M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:2867840, PMID:16116422, PMID:17289582, PMID:18174376, PMID:18414213, PMID:19379763, PMID:19737859, PMID:19763152, PMID:20307669, PMID:21681190, PMID:22406018, PMID:23932590, PMID:24003026, PMID:25288723, PMID:25741868, PMID:26067930, PMID:26094658, PMID:26130695, PMID:26296701, PMID:26483394, PMID:26689913, PMID:26740942, PMID:26822949, PMID:28033443, PMID:28492532, PMID:28678401, PMID:28702895, PMID:28837157, PMID:28837162, PMID:28881617, PMID:29231814, PMID:29287190, PMID:29351780, PMID:29895858, PMID:30075111, PMID:30426508, PMID:30995915, PMID:31700994, PMID:32566746 NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350
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 chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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 chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
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 chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
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 chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:8438880, PMID:22628295, PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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 chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189
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 chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924
JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group 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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G C1H9orf3 chromosome 1 open reading frame, human C9orf3 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 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G FANCA FA complementation group A ISO OMIM NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
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:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
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 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
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 chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
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 chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
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 chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
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 chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189
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 chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924
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:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H9orf3 chromosome 1 open reading frame, human C9orf3 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 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G FANCC FA complementation group C ISO OMIM NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
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 chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
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 chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
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 chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
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 chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405
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 chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
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 chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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 chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
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 chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
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 chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189
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 chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
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 chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
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 chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
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 chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
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 chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887
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 chr30:7,842,540...7,877,128
Ensembl chr30:7,842,540...7,877,606
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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
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 7:719,128...726,128
Ensembl chr 7:719,116...725,898
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 chr16:16,402,821...16,429,095
Ensembl chr16:16,402,933...16,429,037
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 2:84,539,724...84,549,402
Ensembl chr 2:84,545,226...84,549,356
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 chr 5:75,960,909...76,001,088
Ensembl chr 5:75,960,955...76,000,467
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 chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
hereditary nonpolyposis colorectal cancer type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMS2 PMS1 homolog 2, mismatch repair system component ISO OMIM NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
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 chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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 chr10:49,838,003...49,864,211
Ensembl chr10:49,838,776...49,925,064
JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
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 chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
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 chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318
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 chr 8:48,110,521...48,117,175
Ensembl chr 8:48,110,050...48,116,686
JBrowse link
G MLH3 mutL homolog 3 ISO OMIM NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
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 chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475
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 chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375
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 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094
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 chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075
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 chr 5:15,141,861...15,171,642
Ensembl chr 5:15,143,499...15,171,586
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,329,060...15,336,344 JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,893,548...14,919,121
Ensembl chr 5:14,900,208...14,919,193
JBrowse link
G CD3D CD3d molecule ISO OMIM NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750
JBrowse link
G CD3E CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260
JBrowse link
G CD3G CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,379,788...15,391,271
Ensembl chr 5:15,380,633...15,391,214
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,836,293...14,843,731
Ensembl chr 5:14,836,291...14,843,875
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,852,381...14,861,364
Ensembl chr 5:14,852,205...14,861,728
JBrowse link
G H2AX H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,179,287...15,197,737
Ensembl chr 5:15,170,854...15,197,736
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,675,775...15,688,935
Ensembl chr 5:15,677,547...15,682,163
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,485,378...15,513,457
Ensembl chr 5:15,476,582...15,513,075
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,460,147...15,485,274
Ensembl chr 5:15,460,211...15,484,202
JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,090,823...15,138,397
Ensembl chr 5:15,090,813...15,134,784
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,833,804...14,836,376
Ensembl chr 5:14,833,918...14,836,749
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,514,760...15,534,179
Ensembl chr 5:15,521,481...15,534,179
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,552,347...15,564,085
Ensembl chr 5:15,543,632...15,563,486
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004
JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,202,726...15,207,252
Ensembl chr 5:15,203,974...15,206,704
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,575,068...15,609,819
Ensembl chr 5:15,575,338...15,610,190
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,830,604...14,833,444
Ensembl chr 5:14,830,611...14,833,447
JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,085,038...15,090,667
Ensembl chr 5:15,071,802...15,090,522
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,207,400...15,211,905
Ensembl chr 5:15,207,403...15,211,853
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:15,338,279...15,375,722
Ensembl chr 5:15,341,141...15,370,294
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,868,064...14,872,527
Ensembl chr 5:14,868,051...14,871,153
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692
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 2:68,940,816...68,964,585
Ensembl chr 2:68,941,249...68,964,567
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 chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014
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 chr29:24,904...243,926
Ensembl chr29:35,007...243,895
JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 ISO OMIM NCBI chr10:44,887,416...44,913,845
Ensembl chr10:44,887,433...44,900,071
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 chr29:244,634...261,154
Ensembl chr29:244,656...260,991
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 chr26:7,584,276...7,599,667
Ensembl chr26:7,584,880...7,599,401
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 chr25:28,788,803...28,833,964
Ensembl chr25:28,790,506...28,937,647
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 chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
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 chr 5:32,878,348...32,888,253
Ensembl chr 5:32,878,338...32,888,316
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 chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
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 chr 5:33,096,108...33,110,551
Ensembl chr 5:33,098,159...33,121,083
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 chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948
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 chr 5:33,002,458...33,004,555
Ensembl chr 5:33,003,149...33,004,204
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 chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
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 chr 5:32,777,242...32,811,747
Ensembl chr 5:32,777,341...32,811,518
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 chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chr 5:32,714,130...32,721,719 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 chr 5:32,600,902...32,688,560
Ensembl chr 5:32,602,553...32,688,559
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 chr 5:32,588,062...32,592,390
Ensembl chr 5:32,574,134...32,594,333
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 chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
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 chr 5:32,944,351...32,950,433
Ensembl chr 5:32,944,037...32,947,591
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 chr 5:32,777,435...32,783,619
Ensembl chr 5:32,777,791...32,783,611
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 chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666
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 chr 5:33,144,223...33,151,175
Ensembl chr 5:33,147,045...33,150,779
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 chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600
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 chr 5:33,118,401...33,121,979
Ensembl chr 5:33,120,604...33,121,945
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 chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465
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 chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
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 chr 5:33,084,355...33,085,810
Ensembl chr 5:33,084,397...33,085,812
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 chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302
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 chr 5:33,085,781...33,089,379
Ensembl chr 5:33,085,537...33,089,021
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 chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248
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 chr 5:32,711,289...32,712,281
Ensembl chr 5:32,711,305...32,712,108
JBrowse link
G TP53 tumor protein p53 ISO DNA:missense mutations
ClinVar Annotator: match by term: Li-Fraumeni syndrome
ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:887414, PMID:920706, PMID:1349102, PMID:1349175, PMID:1359493, PMID:1394133, PMID:1467311, PMID:1552135, PMID:1559227, PMID:1562462, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1581912, PMID:1591732, PMID:1631137, PMID:1631151, PMID:1644930, PMID:1672732, PMID:1673792, PMID:1679237, PMID:1683921, PMID:1686725, PMID:1737852, PMID:1849234, PMID:1915267, PMID:1918170, PMID:1933902, PMID:1975675, PMID:1978757, PMID:1999338, PMID:2046748, PMID:2113594, PMID:2134334, PMID:2259385, PMID:2531845, PMID:2554494, PMID:2750177, PMID:2802540, PMID:2826609, PMID:7565304, PMID:7599045, PMID:7651740, PMID:7664239, PMID:7669577, PMID:7700647, PMID:7706467, PMID:7707106, PMID:7732013, PMID:7750099, PMID:7761089, PMID:7783166, PMID:7791795, PMID:7796267, PMID:7881428, PMID:7887414, PMID:7936651, PMID:7955036, PMID:7966399, PMID:7969167, PMID:7978053, PMID:7981076, PMID:8012986, PMID:8023157, PMID:8062826, PMID:8075648, PMID:8080050, PMID:8099841, PMID:8102535, PMID:8118819, PMID:8134126, PMID:8134127, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8242631, PMID:8242752, PMID:8308926, PMID:8336941, PMID:8352280, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479743, PMID:8479749, PMID:8527048, PMID:8550239, PMID:8633021, PMID:8639798, PMID:8649785, PMID:8675009, PMID:8688334, PMID:8700525, PMID:8710380, PMID:8718514, PMID:8756654, PMID:8825920, PMID:8829627, PMID:9020384, PMID:9047394, PMID:9049183, PMID:9067756, PMID:9096669, PMID:9115587, PMID:9150393, PMID:9157982, PMID:9207066, PMID:9218725, PMID:9242456, PMID:9285560, PMID:9290701, PMID:9301461, PMID:9364015, PMID:9367778, PMID:9405613, PMID:9407971, PMID:9446663, PMID:9452042, PMID:9470817, PMID:9472631, PMID:9482117, PMID:9524109, PMID:9525742, PMID:9546439, PMID:9569035, PMID:9569050, PMID:9572492, PMID:9582268, PMID:9598730, PMID:9607760, PMID:9627118, PMID:9632751, PMID:9635828, PMID:9662334, PMID:9667734, PMID:9681828, PMID:9704930, PMID:9704931, PMID:9723024, PMID:9766574, PMID:9792154, PMID:9825943, PMID:9839505, PMID:9865903, PMID:9891044, PMID:10064694, PMID:10206274, PMID:10229196, PMID:10329187, PMID:10389749, PMID:10408787, PMID:10411893, PMID:10432928, PMID:10435620, PMID:10486243, PMID:10486318, PMID:10497279, PMID:10507764, PMID:10519380, PMID:10519384, PMID:10554037, PMID:10557074, PMID:10567903, PMID:10589545, PMID:10616528, PMID:10629033, PMID:10653977, PMID:10654936, PMID:10697617, PMID:10706125, PMID:10713666, PMID:10719737, PMID:10753186, PMID:10754498, PMID:10761705, PMID:10777217, PMID:10780666, PMID:10797439, PMID:10802655, PMID:10811497, PMID:10854221, PMID:10864200, PMID:10871862, PMID:10914716, PMID:10922393, PMID:10949938, PMID:10980596, PMID:11040944, PMID:11051239, PMID:11051241, PMID:11101847, PMID:11124955, PMID:11139324, PMID:11161397, PMID:11180592, PMID:11222779, PMID:11229518, PMID:11238924, PMID:11285227, PMID:11313981, PMID:11315715, PMID:11332399, PMID:11358831, PMID:11359905, PMID:11370630, PMID:11391594, PMID:11403041, PMID:11420672, PMID:11420676, PMID:11423991, PMID:11429700, PMID:11429705, PMID:11453810, PMID:11479205, PMID:11481490, PMID:11494139, PMID:11518751, PMID:11590071, PMID:11593407, PMID:11600572, PMID:11668476, PMID:11715068, PMID:11753428, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11900253, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12019170, PMID:12034820, PMID:12067251, PMID:12070601, PMID:12076704, PMID:12124823, PMID:12209975, PMID:12406399, PMID:12433927, PMID:12509279, PMID:12509970, PMID:12524418, PMID:12567188, PMID:12610779, PMID:12619118, PMID:12672316, PMID:12695689, PMID:12700230, PMID:12702523, PMID:12716906, PMID:12725534, PMID:12726864, PMID:12759621, PMID:12779080, PMID:12792784, PMID:12826609, PMID:12885464, PMID:12901974, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14612556, PMID:14656244, PMID:14670539, PMID:14673037, PMID:14695212, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15060172, PMID:15077194, PMID:15095302, PMID:15121773, PMID:15138567, PMID:15161705, PMID:15173255, PMID:15192123, PMID:15221755, PMID:15308588, PMID:15342977, PMID:15355915, PMID:15381368, PMID:15390294, PMID:15489903, PMID:15523690, PMID:15541116, PMID:15548685, PMID:15564800, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15611070, PMID:15630097, PMID:15654279, PMID:15659650, PMID:15703170, PMID:15722483, PMID:15741269, PMID:15756275, PMID:15781620, PMID:15781632, PMID:15784129, PMID:15825182, PMID:15850016, PMID:15851479, PMID:15925506, PMID:15951970, PMID:15964795, PMID:15977174, PMID:15982667, PMID:15993273, PMID:16000567, PMID:16007150, PMID:16033918, PMID:16061860, PMID:16199549, PMID:16204849, PMID:16209708, PMID:16258005, PMID:16288208, PMID:16312222, PMID:16322298, PMID:16333835, PMID:16337994, PMID:16401470, PMID:16437140, PMID:16474844, PMID:16477330, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16522644, PMID:16534790, PMID:16551709, PMID:16596195, PMID:16633321, PMID:16644204, PMID:16682957, PMID:16687402, PMID:16707427, PMID:16736287, PMID:16741917, PMID:16778209, PMID:16793544, PMID:16818505, PMID:16818665, PMID:16821082, PMID:16827139, PMID:16861262, PMID:16907706, PMID:16941491, PMID:16964264, PMID:16969106, PMID:17002294, PMID:17015838, PMID:17133269, PMID:17170001, PMID:17189187, PMID:17224074, PMID:17224268, PMID:17289876, PMID:17301252, PMID:17308077, PMID:17311302, PMID:17318340, PMID:17390010, PMID:17401428, PMID:17401432, PMID:17417627, PMID:17417775, PMID:17427234, PMID:17436385, PMID:17530187, PMID:17535973, PMID:17540308, PMID:17541742, PMID:17557566, PMID:17567834, PMID:17572079, PMID:17599946, PMID:17606709, PMID:17636407, PMID:17638920, PMID:17683073, PMID:17690113, PMID:17724467, PMID:17727479, PMID:17875924, PMID:17903248, PMID:17947339, PMID:17977830, PMID:17982662, PMID:18037961, PMID:18199664, PMID:18208484, PMID:18248785, PMID:18307025, PMID:18348285, PMID:18348286, PMID:18357466, PMID:18391940, PMID:18393224, PMID:18413811, PMID:18453682, PMID:18477611, PMID:18489080, PMID:18511570, PMID:18555592, PMID:18575712, PMID:18580489, PMID:18628487, PMID:18685109, PMID:18762572, PMID:18798306, PMID:18818522, PMID:18923929, PMID:18978813, PMID:18989156, PMID:19012332, PMID:19052714, PMID:19101993, PMID:19127094, PMID:19127115, PMID:19147582, PMID:19160491, PMID:19165225, PMID:19171880, PMID:19224462, PMID:19336573, PMID:19367287, PMID:19367569, PMID:19378321, PMID:19405127, PMID:19416725, PMID:19454241, PMID:19462533, PMID:19468865, PMID:19509155, PMID:19521721, PMID:19523860, PMID:19556618, PMID:19558493, PMID:19671856, PMID:19681600, PMID:19711436, PMID:19714488, PMID:19714490, PMID:19717094, PMID:19756158, PMID:19759556, PMID:19763152, PMID:19786980, PMID:19806023, PMID:19834951, PMID:19850740, PMID:19877175, PMID:19881536, PMID:19909015, PMID:19913028, PMID:19930417, PMID:19933256, PMID:19958544, PMID:20010306, PMID:20013323, PMID:20017945, PMID:20025891, PMID:20028212, PMID:20113312, PMID:20118236, PMID:20127978, PMID:20128691, PMID:20182602, PMID:20195489, PMID:20198344, PMID:20234365, PMID:20301488, PMID:20307669, PMID:20308654, PMID:20364130, PMID:20407015, PMID:20421238, PMID:20436704, PMID:20443084, PMID:20449797, PMID:20455025, PMID:20471942, PMID:20478780, PMID:20504876, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20520810, PMID:20522432, PMID:20538734, PMID:20575032, PMID:20634494, PMID:20638924, PMID:20658636, PMID:20689556, PMID:20693561, PMID:20805372, PMID:20878954, PMID:20932800, PMID:20967502, PMID:20972454, PMID:20978130, PMID:21056402, PMID:21056685, PMID:21059199, PMID:21080251, PMID:21115975, PMID:21118481, PMID:21159183, PMID:21187651, PMID:21192060, PMID:21225465, PMID:21232794, PMID:21288114, PMID:21305319, PMID:21319261, PMID:21339461, PMID:21343334, PMID:21345075, PMID:21348412, PMID:21348641, PMID:21356188, PMID:21380628, PMID:21445056, PMID:21464421, PMID:21470402, PMID:21483000, PMID:21484931, PMID:21488255, PMID:21512767, PMID:21514416, PMID:21519010, PMID:21520333, PMID:21522129, PMID:21528875, PMID:21535297, PMID:21546086, PMID:21552135, PMID:21561095, PMID:21601526, PMID:21619694, PMID:21621601, PMID:21626334, PMID:21637529, PMID:21665182, PMID:21666498, PMID:21672450, PMID:21674059, PMID:21747090, PMID:21760960, PMID:21760996, PMID:21761402, PMID:21763698, PMID:21900752, PMID:21901162, PMID:21904608, PMID:21934104, PMID:21953469, PMID:22006311, PMID:22040862, PMID:22052707, PMID:22090360, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22170717, PMID:22178617, PMID:22186996, PMID:22187033, PMID:22188361, PMID:22198284, PMID:22203015, PMID:22228431, PMID:22233476, PMID:22265402, PMID:22319594, PMID:22354696, PMID:22356895, PMID:22373952, PMID:22406018, PMID:22427690, PMID:22495821, PMID:22507745, PMID:22540896, PMID:22551440, PMID:22571758, PMID:22652532, PMID:22653678, PMID:22672556, PMID:22698404, PMID:22703879, PMID:22710932, PMID:22713868, PMID:22722193, PMID:22729912, PMID:22744426, PMID:22768918, PMID:22797305, PMID:22811390, PMID:22829111, PMID:22844452, PMID:22847613, PMID:22851211, PMID:22862161, PMID:22866089, PMID:22877736, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22923433, PMID:22949826, PMID:22983585, PMID:22989750, PMID:22992668, PMID:22999923, PMID:23031740, PMID:23117049, PMID:23124483, PMID:23149933, PMID:23161690, PMID:23165212, PMID:23172776, PMID:23175693, PMID:23196062, PMID:23200980, PMID:23246812, PMID:23255406, PMID:23259501, PMID:23263379, PMID:23264849, PMID:23265383, PMID:23297687, PMID:23315175, PMID:23334666, PMID:23334668, PMID:23340422, PMID:23355100, PMID:23359294, PMID:23403321, PMID:23406775, PMID:23409989, PMID:23469205, PMID:23484829, PMID:23525797, PMID:23531339, PMID:23538418, PMID:23555315, PMID:23570263, PMID:23580068, PMID:23612572, PMID:23612969, PMID:23624782, PMID:23625637, PMID:23630318, PMID:23639785, PMID:23665223, PMID:23667202, PMID:23667851, PMID:23713777, PMID:23733769, PMID:23792586, PMID:23887774, PMID:23894400, PMID:23897043, PMID:23950206, PMID:23967324, PMID:23973262, PMID:23981578, PMID:24009708, PMID:24033266, PMID:24038938, PMID:24076587, PMID:24113472, PMID:24122735, PMID:24198462, PMID:24218030, PMID:24256616, PMID:24278325, PMID:24307375, PMID:24326041, PMID:24336192, PMID:24373500, PMID:24381225, PMID:24382691, PMID:24384472, PMID:24395441, PMID:24448499, PMID:24451277, PMID:24487276, PMID:24487413, PMID:24501221, PMID:24549055, PMID:24556621, PMID:24573247, PMID:24590827, PMID:24594805, PMID:24603336, PMID:24630730, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24663046, PMID:24665023, PMID:24677579, PMID:24682512, PMID:24700732, PMID:24702488, PMID:24724063, PMID:24728327, PMID:24729566, PMID:24733378, PMID:24763289, PMID:24764719, PMID:24766216, PMID:24797764, PMID:24803582, PMID:24810334, PMID:24813712, PMID:24814347, PMID:24835218, PMID:24835311, PMID:24853176, PMID:24868540, PMID:24884479, PMID:24896186, PMID:24908601, PMID:24916180, PMID:24929325, PMID:24936644, PMID:24940547, PMID:24952744, PMID:25034526, PMID:25047674, PMID:25056374, PMID:25074920, PMID:25119136, PMID:25122428, PMID:25123297, PMID:25149524, PMID:25157968, PMID:25169539, PMID:25184754, PMID:25186627, PMID:25226867, PMID:25234657, PMID:25293557, PMID:25294809, PMID:25299233, PMID:25303977, PMID:25318351, PMID:25326637, PMID:25339039, PMID:25339994, PMID:25348012, PMID:25365311, PMID:25374282, PMID:25428789, PMID:25433984, PMID:25452441, PMID:25460562, PMID:25490274, PMID:25490678, PMID:25503501, PMID:25504633, PMID:25512523, PMID:25516983, PMID:25525159, PMID:25527155, PMID:25544776, PMID:25564201, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25589003, PMID:25612911, PMID:25619955, PMID:25634010, PMID:25634208, PMID:25637381, PMID:25669829, PMID:25691460, PMID:25741868, PMID:25742471, PMID:25757876, PMID:25762628, PMID:25787918, PMID:25794615, PMID:25846456, PMID:25856671, PMID:25860607, PMID:25881545, PMID:25886176, PMID:25896519, PMID:25923920, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:25980754, PMID:25981898, PMID:26000489, PMID:26010451, PMID:26014290, PMID:26024390, PMID:26029016, PMID:26086041, PMID:26094658, PMID:26181206, PMID:26200271, PMID:26205489, PMID:26206375, PMID:26225655, PMID:26230955, PMID:26270727, PMID:26332594, PMID:26367797, PMID:26425688, PMID:26447779, PMID:26452166, PMID:26467025, PMID:26475379, PMID:26484312, PMID:26497680, PMID:26527317, PMID:26534844, PMID:26554828, PMID:26556299, PMID:26572807, PMID:26580448, PMID:26585234, PMID:26619011, PMID:26628864, PMID:26641009, PMID:26659639, PMID:26681051, PMID:26681312, PMID:26681682, PMID:26690524, PMID:26696550, PMID:26718964, PMID:26743472, PMID:26781615, PMID:26786923, PMID:26787237, PMID:26818906, PMID:26822237, PMID:26837699, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27034505, PMID:27059324, PMID:27077130, PMID:27091190, PMID:27101868, PMID:27146902, PMID:27150160, PMID:27153395, PMID:27157322, PMID:27179933, PMID:27189670, PMID:27194209, PMID:27210295, PMID:27223487, PMID:27242894, PMID:27267833, PMID:27276561, PMID:27276934, PMID:27297285, PMID:27328919, PMID:27374712, PMID:27391063, PMID:27443514, PMID:27443517, PMID:27449771, PMID:27463065, PMID:27484708, PMID:27489289, PMID:27493922, PMID:27496084, PMID:27501770, PMID:27516001, PMID:27523101, PMID:27533082, PMID:27545002, PMID:27616075, PMID:27619989, PMID:27621308, PMID:27622479, PMID:27626311, PMID:27657329, PMID:27662657, PMID:27663983, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27726232, PMID:27741277, PMID:27785980, PMID:27834926, PMID:27866339, PMID:27895058, PMID:27911860, PMID:27923552, PMID:27959731, PMID:27978560, PMID:28025407, PMID:28091804, PMID:28125078, PMID:28135145, PMID:28152038, PMID:28199989, PMID:28202063, PMID:28222664, PMID:28230820, PMID:28234344, PMID:28255015, PMID:28279309, PMID:28288110, PMID:28349240, PMID:28369373, PMID:28408749, PMID:28452373, PMID:28453743, PMID:28472496, PMID:28475293, PMID:28476805, PMID:28477316, PMID:28477317, PMID:28486781, PMID:28492532, PMID:28499267, PMID:28503720, PMID:28528518, PMID:28573494, PMID:28649645, PMID:28664506, PMID:28681140, PMID:28724667, PMID:28744014, PMID:28772286, PMID:28819011, PMID:28826481, PMID:28843361, PMID:28861920, PMID:28902083, PMID:28915717, PMID:28961279, PMID:28975465, PMID:29025599, PMID:29056573, PMID:29070607, PMID:29079597, PMID:29126202, PMID:29170254, PMID:29225734, PMID:29247016, PMID:29300620, PMID:29324801, PMID:29338689, PMID:29348365, PMID:29360161, PMID:29365323, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29522266, PMID:29667044, PMID:29752822, PMID:29753700, PMID:29769598, PMID:29770616, PMID:29774081, PMID:29785153, PMID:29936259, PMID:29945567, PMID:29946497, PMID:29955864, PMID:29958926, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30092803, PMID:30107858, PMID:30128536, PMID:30181807, PMID:30190792, PMID:30212483, PMID:30216591, PMID:30224644, PMID:30256826, PMID:30287823, PMID:30297838, PMID:30306255, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30374176, PMID:30450585, PMID:30588330, PMID:30607672, PMID:30630526, PMID:30709381, PMID:30709875, PMID:30720243, PMID:30840781, PMID:30883245, PMID:31016814, PMID:31081129, PMID:31105275, PMID:31159747, PMID:31235699, PMID:31422574, PMID:31775759, PMID:32566746 RGD:2290542 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 chr 5:32,784,577...32,786,060
Ensembl chr 5:32,784,846...32,786,163
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 chr 5:32,975,372...32,977,967 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 chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G TP53 tumor protein p53 ISO OMIM NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 chr 3:38,432,567...38,888,077
Ensembl chr 3:38,435,421...38,889,003
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 6:11,438,768...11,446,307
Ensembl chr 6:11,438,803...11,446,308
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 6:11,453,248...11,456,794
Ensembl chr 6:11,453,291...11,456,630
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer ClinVar PMID:28306719 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076
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 6:11,447,225...11,478,611
Ensembl chr 6:11,447,081...11,478,658
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr 8:48,110,521...48,117,175
Ensembl chr 8:48,110,050...48,116,686
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 chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475
JBrowse link
G EPM2AIP1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr23:6,880,996...6,888,863
Ensembl chr23:6,886,885...6,888,711
JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr10:49,838,003...49,864,211
Ensembl chr10:49,838,776...49,925,064
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 chr23:6,939,476...7,047,721
Ensembl chr23:6,940,318...7,047,610
JBrowse link
G MLH1 mutL homolog 1 ISO DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:16, PMID:1522200, PMID:1749856, PMID:1756143, PMID:2022152, PMID:4063166, PMID:5713769, PMID:7557107, PMID:7584997, PMID:7704024, PMID:7705822, PMID:7728749, PMID:7757073, PMID:7812952, PMID:8128251, PMID:8145827, PMID:8198129, PMID:8521394, PMID:8521398, PMID:8566964, PMID:8571956, PMID:8574961, PMID:8581513, PMID:8592341, PMID:8646682, PMID:8751876, PMID:8776590, PMID:8797773, PMID:8808596, PMID:8863153, PMID:8872463, PMID:8880570, PMID:8895729, PMID:8938136, PMID:8940269, PMID:8971183, PMID:8993976, PMID:9032648, PMID:9052445, PMID:9071575, PMID:9087566, PMID:9218993, PMID:9234704, PMID:9272156, PMID:9288790, PMID:9298827, PMID:9311737, PMID:9322509, PMID:9326924, PMID:9377556, PMID:9399661, PMID:9419403, PMID:9490293, PMID:9506527, PMID:9526167, PMID:9559627, PMID:9611074, PMID:9634524, PMID:9697702, PMID:9718327, PMID:9777949, PMID:9788388, PMID:9806477, PMID:9820400, PMID:9831355, PMID:9833759, PMID:9927033, PMID:9927034, PMID:10037723, PMID:10082584, PMID:10196371, PMID:10200055, PMID:10323887, PMID:10348818, PMID:10375096, PMID:10386556, PMID:10389971, PMID:10422993, PMID:10446963, PMID:10448273, PMID:10471527, PMID:10480359, PMID:10495924, PMID:10521294, PMID:10533476, PMID:10534773, PMID:10573010, PMID:10598809, PMID:10601588, PMID:10612827, PMID:10660333, PMID:10709098, PMID:10713887, PMID:10732761, PMID:10777691, PMID:10793088, PMID:10799973, PMID:10829038, PMID:10861474, PMID:10874307, PMID:10882759, PMID:10923051, PMID:10970186, PMID:10985134, PMID:10995807, PMID:11015456, PMID:11093816, PMID:11112663, PMID:11139242, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11291077, PMID:11292842, PMID:11304573, PMID:11306449, PMID:11342971, PMID:11343035, PMID:11369138, PMID:11376800, PMID:11385712, PMID:11427529, PMID:11429708, PMID:11474654, PMID:11507050, PMID:11524701, PMID:11555625, PMID:11585727, PMID:11601928, PMID:11606497, PMID:11726306, PMID:11748856, PMID:11754112, PMID:11781295, PMID:11793442, PMID:11839723, PMID:11879922, PMID:11920458, PMID:11920650, PMID:11948175, PMID:12011148, PMID:12037578, PMID:12052501, PMID:12067992, PMID:12070261, PMID:12095971, PMID:12112654, PMID:12115348, PMID:12132870, PMID:12173039, PMID:12183410, PMID:12200596, PMID:12362047, PMID:12362848, PMID:12373605, PMID:12377806, PMID:12386821, PMID:12414623, PMID:12414824, PMID:12419761, PMID:12513688, PMID:12522551, PMID:12537657, PMID:12547705, PMID:12555990, PMID:12618391, PMID:12624141, PMID:12655562, PMID:12655568, PMID:12658575, PMID:12799449, PMID:12808326, PMID:12810663, PMID:12874865, PMID:12919137, PMID:12919140, PMID:14504054, PMID:14512394, PMID:14514376, PMID:14517962, PMID:14526391, PMID:14574010, PMID:14635101, PMID:14645426, PMID:14688830, PMID:14699485, PMID:14756672, PMID:14762794, PMID:14871975, PMID:14961575, PMID:14970868, PMID:14985405, PMID:15024732, PMID:15046089, PMID:15099349, PMID:15133479, PMID:15139004, PMID:15173238, PMID:15178966, PMID:15184898, PMID:15217520, PMID:15222003, PMID:15235038, PMID:15253764, PMID:15254659, PMID:15289847, PMID:15300854, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15345113, PMID:15365995, PMID:15365996, PMID:15466831, PMID:15475387, PMID:15494688, PMID:15520370, PMID:15555211, PMID:15563510, PMID:15571801, PMID:15613555, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15765394, PMID:15786548, PMID:15845562, PMID:15849733, PMID:15849752, PMID:15855432, PMID:15864295, PMID:15870828, PMID:15872200, PMID:15926618, PMID:15943554, PMID:15955785, PMID:15991064, PMID:15991306, PMID:15996210, PMID:16034045, PMID:16083711, PMID:16116158, PMID:16142001, PMID:16143124, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16276679, PMID:16288214, PMID:16338176, PMID:16341550, PMID:16341804, PMID:16395668, PMID:16425354, PMID:16451135, PMID:16456782, PMID:16521201, PMID:16616355, PMID:16636019, PMID:16685411, PMID:16724012, PMID:16736289, PMID:16736291, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16885385, PMID:16929514, PMID:16941473, PMID:16963262, PMID:16982745, PMID:16995940, PMID:17011982, PMID:17054581, PMID:17074586, PMID:17087981, PMID:17095871, PMID:17117178, PMID:17135187, PMID:17192056, PMID:17199584, PMID:17203532, PMID:17210669, PMID:17222328, PMID:17228328, PMID:17267619, PMID:17301300, PMID:17312306, PMID:17348456, PMID:17417778, PMID:17440950, PMID:17440981, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17569143, PMID:17576681, PMID:17594722, PMID:17653898, PMID:17665423, PMID:17690979, PMID:17889038, PMID:17895478, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18205192, PMID:18227862, PMID:18270343, PMID:18301448, PMID:18307539, PMID:18325052, PMID:18337503, PMID:18373977, PMID:18383312, PMID:18389388, PMID:18415027, PMID:18470917, PMID:18518984, PMID:18547406, PMID:18556772, PMID:18561205, PMID:18566915, PMID:18618713, PMID:18625694, PMID:18636350, PMID:18713544, PMID:18726168, PMID:18759827, PMID:18772310, PMID:18809606, PMID:18931482, PMID:18951437, PMID:19015241, PMID:19047842, PMID:19072991, PMID:19116412, PMID:19117025, PMID:19120036, PMID:19130300, PMID:19133695, PMID:19142183, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19324997, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19504447, PMID:19526325, PMID:19575290, PMID:19621678, PMID:19665066, PMID:19669161, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19731080, PMID:19760518, PMID:19863800, PMID:20007843, PMID:20020535, PMID:20045164, PMID:20167975, PMID:20176655, PMID:20176959, PMID:20215533, PMID:20223024, PMID:20233461, PMID:20305446, PMID:20373145, PMID:20459533, PMID:20533529, PMID:20587412, PMID:20682701, PMID:20704743, PMID:20717847, PMID:20858721, PMID:20864636, PMID:20937110, PMID:20978114, PMID:20978117, PMID:21034533, PMID:21056691, PMID:21064154, PMID:21120944, PMID:21153778, PMID:21155023, PMID:21239990, PMID:21247423, PMID:21286667, PMID:21286823, PMID:21311894, PMID:21348412, PMID:21387278, PMID:21404117, PMID:21404177, PMID:21475916, PMID:21520333, PMID:21598002, PMID:21636617, PMID:21642682, PMID:21671081, PMID:21671475, PMID:21681552, PMID:21778331, PMID:21868491, PMID:21901500, PMID:21952876, PMID:22081473, PMID:22086678, PMID:22102614, PMID:22136435, PMID:22252508, PMID:22290698, PMID:22322191, PMID:22395473, PMID:22426235, PMID:22453149, PMID:22480969, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22773173, PMID:22776989, PMID:22788692, PMID:22843852, PMID:22854115, PMID:22875147, PMID:22878509, PMID:22883484, PMID:22949379, PMID:22949387, PMID:22987205, PMID:22995991, PMID:23047549, PMID:23112559, PMID:23329266, PMID:23354017, PMID:23403630, PMID:23431106, PMID:23523604, PMID:23544471, PMID:23573243, PMID:23612316, PMID:23640085, PMID:23695190, PMID:23712482, PMID:23729658, PMID:23741719, PMID:23747338, PMID:23752102, PMID:23760103, PMID:23990280, PMID:24032978, PMID:24033266, PMID:24055113, PMID:24090359, PMID:24122200, PMID:24204293, PMID:24278394, PMID:24292105, PMID:24323032, PMID:24333619, PMID:24344984, PMID:24362816, PMID:24440087, PMID:24456667, PMID:24549055, PMID:24689082, PMID:24710284, PMID:24728327, PMID:24743384, PMID:24802709, PMID:24811117, PMID:24851142, PMID:24933000, PMID:24953332, PMID:25060679, PMID:25077178, PMID:25081409, PMID:25110875, PMID:25111426, PMID:25115387, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25148578, PMID:25157968, PMID:25186627, PMID:25197397, PMID:25338684, PMID:25345868, PMID:25420488, PMID:25430799, PMID:25435955, PMID:25477341, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25530820, PMID:25559809, PMID:25576899, PMID:25617771, PMID:25637381, PMID:25640679, PMID:25648859, PMID:25701956, PMID:25741868, PMID:25762362, PMID:25782445, PMID:25823662, PMID:25851949, PMID:25871441, PMID:25871621, PMID:25882375, PMID:25892863, PMID:25927356, PMID:25980754, PMID:26053027, PMID:26078562, PMID:26096739, PMID:26202870, PMID:26206375, PMID:26247049, PMID:26248088, PMID:26249686, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26437357, PMID:26467025, PMID:26485756, PMID:26517685, PMID:26552419, PMID:26557847, PMID:26580448, PMID:26628864, PMID:26637282, PMID:26659639, PMID:26666765, PMID:26681312, PMID:26761715, PMID:26811195, PMID:26845104, PMID:26888055, PMID:26895986, PMID:26898890, PMID:26900293, PMID:26976419, PMID:27064304, PMID:27093186, PMID:27152634, PMID:27153395, PMID:27173243, PMID:27185373, PMID:27295708, PMID:27435373, PMID:27449771, PMID:27487738, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27602174, PMID:27629256, PMID:27647783, PMID:27696107, PMID:27732944, PMID:27831900, PMID:27978560, PMID:28127413, PMID:28135145, PMID:28152038, PMID:28259476, PMID:28334867, PMID:28349240, PMID:28445943, PMID:28449805, PMID:28492532, PMID:28514183, PMID:28526081, PMID:28528518, PMID:28687356, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29050249, PMID:29124495, PMID:29151953, PMID:29212164, PMID:29228462, PMID:29288294, PMID:29360161, PMID:29360550, PMID:29368341, PMID:29419868, PMID:29472279, PMID:29505604, PMID:29506128, PMID:29520894, PMID:29575718, PMID:29596542, PMID:29755653, PMID:29758216, PMID:29887214, PMID:30013564, PMID:30019097, PMID:30093976, PMID:30256826, PMID:30374176, PMID:30504929, PMID:30521064, PMID:30702970, PMID:30720243, PMID:30917047, PMID:30998989, PMID:31118792, PMID:31386297, PMID:31391288, PMID:31784484, PMID:32566746 RGD:1625106 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
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 chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MSH2 mutS homolog 2 ISO DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Lynch syndrome
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 chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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: Colorectal cancer, hereditary nonpolyposis
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
ClinVar Annotator: match by term: Lynch syndrome I
HNPCC5, DNA:deletion:exon:L222X
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1548301, PMID:1734424, PMID:1736038, PMID:1851154, PMID:1958276, PMID:2059188, PMID:2563738, PMID:5559809, PMID:7604266, PMID:8063241, PMID:8176851, PMID:8838326, PMID:9307272, PMID:9354786, PMID:9774676, PMID:9819445, PMID:9929971, PMID:10348829, PMID:10413423, PMID:10471527, PMID:10507723, PMID:10508506, PMID:10521294, PMID:10537275, PMID:10612827, PMID:10675480, PMID:10699937, PMID:10938287, PMID:11153917, PMID:11470537, PMID:11479205, PMID:11586295, PMID:11641390, PMID:11709755, PMID:11807791, PMID:11900875, PMID:12019211, PMID:12202775, PMID:12376507, PMID:12376742, PMID:12522549, PMID:12537658, PMID:12547705, PMID:12658575, PMID:12732731, PMID:14520694, PMID:14574004, PMID:14585961, PMID:14871975, PMID:14961575, PMID:14974087, PMID:15098177, PMID:15184898, PMID:15217520, PMID:15236168, PMID:15340264, PMID:15354210, PMID:15365995, PMID:15483016, PMID:15571801, PMID:15805151, PMID:15837969, PMID:15872200, PMID:15952900, PMID:16010685, PMID:16034045, PMID:16203774, PMID:16237223, PMID:16270383, PMID:16283678, PMID:16283884, PMID:16341805, PMID:16360201, PMID:16408224, PMID:16418736, PMID:16464007, PMID:16525781, PMID:16636019, PMID:16638864, PMID:16736289, PMID:16771955, PMID:16807412, PMID:16885385, PMID:16929514, PMID:16940983, PMID:17117178, PMID:17199584, PMID:17205513, PMID:17259933, PMID:17323113, PMID:17344846, PMID:17417778, PMID:17440981, PMID:17453009, PMID:17498565, PMID:17531815, PMID:17557300, PMID:17594722, PMID:17653898, PMID:17661183, PMID:17718861, PMID:17854147, PMID:17909073, PMID:18033691, PMID:18067074, PMID:18176851, PMID:18236172, PMID:18269114, PMID:18301448, PMID:18307539, PMID:18355840, PMID:18389388, PMID:18409202, PMID:18415027, PMID:18417481, PMID:18521850, PMID:18523027, PMID:18550572, PMID:18566915, PMID:18625694, PMID:18701435, PMID:18790734, PMID:18809606, PMID:19072991, PMID:19130300, PMID:19194194, PMID:19250818, PMID:19324997, PMID:19389263, PMID:19459153, PMID:19526325, PMID:19575290, PMID:19659577, PMID:19685280, PMID:19685281, PMID:19698169, PMID:19766128, PMID:19781088, PMID:19851887, PMID:19924528, PMID:19931546, PMID:20007843, PMID:20028993, PMID:20045164, PMID:20149637, PMID:20176959, PMID:20379851, PMID:20487569, PMID:20587412, PMID:20591884, PMID:20682701, PMID:20924129, PMID:20937110, PMID:21039432, PMID:21056691, PMID:21081928, PMID:21120944, PMID:21153778, PMID:21155762, PMID:21247423, PMID:21437237, PMID:21520333, PMID:21642682, PMID:21671081, PMID:21674763, PMID:21836479, PMID:21868491, PMID:22006311, PMID:22081473, PMID:22102614, PMID:22144684, PMID:22180424, PMID:22219001, PMID:22250089, PMID:22283331, PMID:22290698, PMID:22480969, PMID:22495361, PMID:22581703, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22734033, PMID:22766992, PMID:22810696, PMID:22851212, PMID:22895193, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23104009, PMID:23263490, PMID:23294250, PMID:23354634, PMID:23523604, PMID:23530095, PMID:23541221, PMID:23544471, PMID:23554159, PMID:23612316, PMID:23621914, PMID:23652311, PMID:23700467, PMID:23729658, PMID:23733757, PMID:23757202, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24068316, PMID:24072394, PMID:24073290, PMID:24100870, PMID:24244552, PMID:24278394, PMID:24323032, PMID:24362816, PMID:24393486, PMID:24425144, PMID:24440087, PMID:24448499, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24737826, PMID:24763289, PMID:24933000, PMID:24933100, PMID:25006859, PMID:25081409, PMID:25093288, PMID:25110875, PMID:25111426, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25186627, PMID:25194673, PMID:25224212, PMID:25231023, PMID:25307252, PMID:25318351, PMID:25318681, PMID:25370038, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25536104, PMID:25559809, PMID:25561518, PMID:25617771, PMID:25637381, PMID:25648859, PMID:25670083, PMID:25701956, PMID:25741868, PMID:25751794, PMID:25782445, PMID:25801821, PMID:25871441, PMID:25980754, PMID:25985138, PMID:26023681, PMID:26046366, PMID:26099011, PMID:26177554, PMID:26181448, PMID:26206375, PMID:26270727, PMID:26274037, PMID:26300997, PMID:26318770, PMID:26332594, PMID:26333163, PMID:26374070, PMID:26436109, PMID:26436112, PMID:26437257, PMID:26440929, PMID:26457233, PMID:26467025, PMID:26483394, PMID:26485756, PMID:26517685, PMID:26530882, PMID:26544533, PMID:26552419, PMID:26580448, PMID:26633542, PMID:26648449, PMID:26666765, PMID:26674132, PMID:26681312, PMID:26687385, PMID:26689913, PMID:26720728, PMID:26787237, PMID:26805314, PMID:26811195, PMID:26832770, PMID:26845104, PMID:26866578, PMID:26888055, PMID:26898890, PMID:26900293, PMID:26901136, PMID:26976419, PMID:27013479, PMID:27028851, PMID:27060149, PMID:27064304, PMID:27153395, PMID:27165744, PMID:27273229, PMID:27329137, PMID:27432916, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27456091, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27696107, PMID:27714650, PMID:27723366, PMID:27854360, PMID:27878467, PMID:27920101, PMID:27928858, PMID:27978560, PMID:28125075, PMID:28135145, PMID:28152038, PMID:28153049, PMID:28176205, PMID:28195393, PMID:28206961, PMID:28283864, PMID:28323777, PMID:28369758, PMID:28449805, PMID:28460341, PMID:28466842, PMID:28481244, PMID:28492532, PMID:28502729, PMID:28503720, PMID:28514183, PMID:28528517, PMID:28528518, PMID:28531214, PMID:28596308, PMID:28687356, PMID:28724667, PMID:28765196, PMID:28767289, PMID:28873162, PMID:28874130, PMID:28878254, PMID:28922847, PMID:28944238, PMID:29107668, PMID:29212164, PMID:29263802, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29575718, PMID:29596542, PMID:29659569, PMID:29684080, PMID:29750335, PMID:29753700, PMID:29785566, PMID:29880898, PMID:29887214, PMID:29915797, PMID:29922827, PMID:29946849, PMID:29967336, PMID:30013564, PMID:30128536, PMID:30306255, PMID:30311386, PMID:30374176, PMID:30376427, PMID:30498870, PMID:30521064, PMID:30670635, PMID:31100584, PMID:31204389, PMID:31297337, PMID:31307542, PMID:31391288, PMID:31422818, PMID:31666926, PMID:31965077, PMID:32141610, PMID:32566746, PMID:32773772 RGD:1600460, RGD:1625106 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
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 2:73,234,482...73,236,548
Ensembl chr 2:73,234,586...73,236,206
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 2:73,207,945...73,222,027
Ensembl chr 2:73,208,146...73,222,020
JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr37:509,592...521,511
Ensembl chr37:511,149...522,865
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 chr37:502,752...609,640
Ensembl chr37:502,747...790,904
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:2440087, PMID:7628019, PMID:7629132, PMID:7632227, PMID:7661930, PMID:7704024, PMID:8072530, PMID:8993976, PMID:9419979, PMID:9488480, PMID:9683794, PMID:10037723, PMID:10199405, PMID:10479499, PMID:10480359, PMID:10763829, PMID:11574484, PMID:11897781, PMID:12208142, PMID:12714694, PMID:14574005, PMID:14756672, PMID:15077197, PMID:15256438, PMID:15304120, PMID:15448003, PMID:15470502, PMID:15521988, PMID:15845562, PMID:15872200, PMID:15887099, PMID:15887124, PMID:15942939, PMID:16144131, PMID:16283678, PMID:16426742, PMID:16472587, PMID:16507833, PMID:16609022, PMID:16619239, PMID:16774946, PMID:16817031, PMID:16873062, PMID:17016615, PMID:17029773, PMID:17072973, PMID:17139668, PMID:17258725, PMID:17312306, PMID:17453009, PMID:17557300, PMID:17567544, PMID:17993636, PMID:18007577, PMID:18030674, PMID:18178629, PMID:18268114, PMID:18273873, PMID:18310077, PMID:18415027, PMID:18602922, PMID:18619468, PMID:18768816, PMID:18824584, PMID:19132747, PMID:19156169, PMID:19283792, PMID:19479271, PMID:19495563, PMID:19526325, PMID:20176959, PMID:20186688, PMID:20186689, PMID:20205264, PMID:20487569, PMID:20531397, PMID:20624957, PMID:20698049, PMID:21182953, PMID:21204794, PMID:21239990, PMID:21356188, PMID:21376568, PMID:21520333, PMID:21618646, PMID:21984973, PMID:22081473, PMID:22086678, PMID:22120844, PMID:22290698, PMID:22577899, PMID:22585707, PMID:22608206, PMID:22658618, PMID:22692065, PMID:22703879, PMID:22875147, PMID:22918162, PMID:22941189, PMID:22949387, PMID:23012243, PMID:23017166, PMID:23376243, PMID:23435383, PMID:23582141, PMID:23612316, PMID:23629955, PMID:23652311, PMID:23709753, PMID:23837913, PMID:23960188, PMID:23981578, PMID:24027009, PMID:24033266, PMID:24055113, PMID:24072394, PMID:24113346, PMID:24130102, PMID:24326041, PMID:24351291, PMID:24362816, PMID:24434690, PMID:24440087, PMID:24549055, PMID:24556621, PMID:24618965, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24763289, PMID:24897087, PMID:25006859, PMID:25117502, PMID:25142776, PMID:25151201, PMID:25186627, PMID:25194673, PMID:25326637, PMID:25345868, PMID:25430799, PMID:25477341, PMID:25479140, PMID:25503501, PMID:25512458, PMID:25525159, PMID:25559809, PMID:25567908, PMID:25637381, PMID:25648859, PMID:25701956, PMID:25741868, PMID:25801821, PMID:25850602, PMID:25856668, PMID:25871621, PMID:25938944, PMID:25964535, PMID:25980754, PMID:26110232, PMID:26116798, PMID:26232782, PMID:26247049, PMID:26249686, PMID:26270727, PMID:26272126, PMID:26318770, PMID:26437257, PMID:26467025, PMID:26483394, PMID:26517685, PMID:26544533, PMID:26681312, PMID:26689913, PMID:26720728, PMID:26811195, PMID:26837502, PMID:26845104, PMID:26866578, PMID:26895986, PMID:26898890, PMID:26976419, PMID:27001570, PMID:27017610, PMID:27028851, PMID:27037742, PMID:27060149, PMID:27060170, PMID:27064304, PMID:27153395, PMID:27273229, PMID:27392081, PMID:27433846, PMID:27435373, PMID:27443514, PMID:27449771, PMID:27476653, PMID:27498913, PMID:27535533, PMID:27589204, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27647783, PMID:27863258, PMID:27878467, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28152038, PMID:28195393, PMID:28365877, PMID:28381238, PMID:28449805, PMID:28466842, PMID:28492532, PMID:28503720, PMID:28503822, PMID:28514183, PMID:28528518, PMID:28562508, PMID:28596308, PMID:28640387, PMID:28724667, PMID:28726808, PMID:28765196, PMID:28805995, PMID:28873162, PMID:28874130, PMID:28975465, PMID:29335925, PMID:29345684, PMID:29356034, PMID:29489754, PMID:29566657, PMID:29659569, PMID:29667044, PMID:29752822, PMID:29785153, PMID:29887214, PMID:29945567, PMID:29946849, PMID:30039884, PMID:30093976, PMID:30155321, PMID:30161022, PMID:30256826, PMID:30306255, PMID:30311386, PMID:30337059, PMID:30374176, PMID:30376427, PMID:30447919, PMID:30521064, PMID:30572730, PMID:30653781, PMID:30680046, PMID:30760869, PMID:30877237, PMID:31101557, PMID:31159747, PMID:31300551, PMID:32773772 RGD:1599137, RGD:1599142 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G RNASEL ribonuclease L onset ISO DNA:substitution:cds:amino acid R462G RGD PMID:16054567 RGD:2292000 NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G STPG4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:30374176 NCBI chr10:49,255,715...49,294,752
Ensembl chr10:49,255,723...49,294,708
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
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 chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
G TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr23:6,749,817...6,849,113
Ensembl chr23:6,631,276...6,849,034
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 chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475
JBrowse link
G KCNK12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome I ClinVar NCBI chr10:49,618,476...49,672,539
Ensembl chr10:49,606,354...49,671,387
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 chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
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G PMS1 PMS1 homolog 1, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:502,752...609,640
Ensembl chr37:502,747...790,904
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Lynch syndrome I ClinVar PMID:7704024, PMID:8072530, PMID:9419979, PMID:9683794, PMID:10479499, PMID:10480359, PMID:11574484, PMID:11793469, PMID:12208142, PMID:14756672, PMID:15256438, PMID:15304120, PMID:15448003, PMID:15521988, PMID:15872200, PMID:15887099, PMID:16472587, PMID:16619239, PMID:16817031, PMID:16873062, PMID:17029773, PMID:17312306, PMID:17567544, PMID:17993636, PMID:18602922, PMID:18768816, PMID:19132747, PMID:19389263, PMID:20176959, PMID:20186688, PMID:20186689, PMID:20205264, PMID:20487569, PMID:20624957, PMID:20698049, PMID:21153778, PMID:21239990, PMID:21984973, PMID:22120844, PMID:22290698, PMID:22577899, PMID:22703879, PMID:22949387, PMID:23012243, PMID:23612316, PMID:23652311, PMID:23709753, PMID:23960188, PMID:23981578, PMID:24027009, PMID:24033266, PMID:24326041, PMID:24351291, PMID:24362816, PMID:24434690, PMID:24556621, PMID:24618965, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:25117502, PMID:25186627, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25964535, PMID:25980754, PMID:26110232, PMID:26116798, PMID:26272126, PMID:26318770, PMID:26467025, PMID:26483394, PMID:26517685, PMID:26681312, PMID:26689913, PMID:26837502, PMID:26845104, PMID:26898890, PMID:27017610, PMID:27037742, PMID:27064304, PMID:27435373, PMID:27449771, PMID:27601186, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28466842, PMID:28492532, PMID:28503720, PMID:28562508, PMID:28726808, PMID:28765196, PMID:29659569, PMID:29752822, PMID:29785153, PMID:29887214, PMID:29946849, PMID:30155321, PMID:30256826, PMID:30337059, PMID:30521064, PMID:30572730, PMID:30760869, PMID:32773772 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
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 chr 9:38,242,178...38,259,788
Ensembl chr 9:38,222,051...38,365,621
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 chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO OMIM NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAPBP TAP binding protein ISO OMIM NCBI chr12:2,740,276...2,751,808
Ensembl chr12:2,740,276...2,751,808
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 chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
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 chr20:43,976,373...43,978,410
Ensembl chr20:43,976,665...43,977,823
JBrowse link
G RFX5 regulatory factor X5 ISO OMIM NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO OMIM NCBI chr20:43,977,860...43,984,063
Ensembl chr20:43,977,867...43,983,273
JBrowse link
G RFXAP regulatory factor X associated protein ISO OMIM NCBI chr25:3,861,927...3,871,854
Ensembl chr25:3,862,069...3,870,994
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 chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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 chr29:35,495,348...35,544,955
Ensembl chr29:35,495,261...35,544,955
JBrowse link
G NBN nibrin ISO OMIM NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
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 chr29:35,386,817...35,405,133
Ensembl chr29:35,390,259...35,404,269
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 chr11:20,836,863...20,928,930
Ensembl chr11:20,836,879...20,928,819
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 chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr18:31,614,143...31,621,489
Ensembl chr18:31,618,481...31,620,064
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 chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:9,766,369...9,768,831
Ensembl chr18:9,765,972...9,768,833
JBrowse link
rapadilino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO OMIM NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753
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 chr18:31,614,143...31,621,489
Ensembl chr18:31,618,481...31,620,064
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 2:68,342,769...68,371,769
Ensembl chr 2:68,350,057...68,371,090
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 chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G RECQL4 RecQ like helicase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rothmund-Thomson syndrome
CTD
ClinVar
RGD
PMID:10319867, PMID:10678659, PMID:12734318, PMID:12838562, PMID:15964893, PMID:16681588, PMID:17250521, PMID:18616953, PMID:18647888, PMID:18716613, PMID:19291770, PMID:21418107, PMID:24033266, PMID:24635570, PMID:25120469, PMID:25326635, PMID:25741868, PMID:27247962, PMID:28492532 RGD:1599421 NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753
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 chr17:36,210,026...36,313,785
Ensembl chr17:36,198,631...36,312,442
JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Poikiloderma atrophicans and cataract ClinVar PMID:10678659, PMID:12734318, PMID:12838562, PMID:18716613, PMID:25741868 NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753
JBrowse link
Rothmund-Thomson Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO OMIM NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753
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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link