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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 6:54,870,359...54,880,814
Ensembl chr 6:54,870,361...54,880,807
JBrowse link
G RECQL4 RecQ like helicase 4 ISO RGD PMID:25859855 RGD:13207506 NCBI chr 4:287,206...293,629 JBrowse link
G WRN WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616805 NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,972...54,094,587
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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
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 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
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 chr 2:24,565,447...24,573,853
Ensembl chr 2:24,565,449...24,602,590
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 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ATM ATM serine/threonine kinase ISO OMIM NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:29,808,849...29,815,345 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 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G C9H11orf65 chromosome 9 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 9:36,768,819...36,855,318
Ensembl chr 9:36,769,342...36,849,575
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,627...138,614,301
JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 9:36,554,800...36,620,515
Ensembl chr 9:36,554,671...36,620,447
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 chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,360...26,634,568
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,125,814...14,185,276
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 chr12:53,979,206...54,046,927
Ensembl chr12:53,979,215...54,055,377
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 6:54,870,359...54,880,814
Ensembl chr 6:54,870,361...54,880,807
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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G C9H11orf65 chromosome 9 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 9:36,768,819...36,855,318
Ensembl chr 9:36,769,342...36,849,575
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 chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,360...26,634,568
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 chr17:14,137,746...14,142,584
Ensembl chr17:14,125,814...14,185,276
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 7:53,317,515...53,412,649
Ensembl chr 7:53,317,540...53,412,647
JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,472,947...53,485,084
Ensembl chr 7:53,472,946...53,485,082
JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,455,634...53,472,791
Ensembl chr 7:53,460,017...53,472,790
JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,525,984...53,527,913
Ensembl chr 7:53,525,987...53,527,896
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 6:53,620,483...53,660,020
Ensembl chr 6:53,620,483...53,686,562
JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,498,917...53,519,512
Ensembl chr 7:53,498,963...53,519,688
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,869,749...55,900,640
Ensembl chr 7:55,840,723...56,045,582
JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,546,666...53,557,718
Ensembl chr 7:53,531,274...53,558,128
JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,529,605...53,545,960
JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,501...41,757,862
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 chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO OMIM NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
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 chr11:71,141,823...71,168,326
Ensembl chr11:71,141,798...71,168,321
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 6:51,783,537...51,808,898 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 6:51,780,709...51,783,696
Ensembl chr 6:51,781,347...51,785,106
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 6:51,783,537...51,808,898 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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,798...71,168,321
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO DNA:insertion: :c.1034_1035insT (human)
ClinVar Annotator: match by term: Progeroid nanism
ClinVar Annotator: match by term: Cockayne syndrome
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
RGD
ClinVar
CTD
PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:18446857, PMID:22466610, PMID:22466612, PMID:23599700, PMID:25440059, PMID:25463447, PMID:25741868, PMID:26972010, PMID:28492532, PMID:30311386 RGD:10401095, RGD:10401100, RGD:11567232 NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cockayne syndrome
DNA:nonsense mutation: :p.Y322X (human)
DNA:mutations:multiple (human)
CTD
ClinVar
RGD
PMID:19894250, PMID:21108394, PMID:22466610, PMID:22466612 RGD:10401108, RGD:11064547 NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,701...39,770,315
JBrowse link
G GHR growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,286...27,422,268
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar NCBI chr16:39,770,398...39,950,786
Ensembl chr16:39,770,419...39,952,804
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,246...239,568,649
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 chr16:39,704,602...39,770,330
Ensembl chr16:39,701,701...39,770,315
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 chr16:39,770,398...39,950,786
Ensembl chr16:39,770,419...39,952,804
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 chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
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 chr 2:24,477,084...24,551,690
Ensembl chr 2:24,477,172...24,551,670
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,565,449...24,602,590
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,546,958...24,558,430
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 3:18,246,036...18,260,167 JBrowse link
G CORO1A coronin 1A ISO OMIM NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,899...18,342,380
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,294,196
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586
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 8:31,321,005...31,372,366
Ensembl chr 8:31,321,113...31,372,364
JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,984...18,277,573
JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,277,999...18,281,298
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 chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:11050007, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:17924555, PMID:20869034, PMID:21520333, PMID:22720145, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:32566746 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
RGD
ClinVar
PMID:9971877, PMID:11030417, PMID:11185744, PMID:12065746, PMID:12491487, PMID:12955716, PMID:12960223, PMID:15026808, PMID:15070707, PMID:15635067, PMID:15645491, PMID:15876480, PMID:16825431, PMID:17924331, PMID:17972177, PMID:18284688, PMID:18431501, PMID:18627636, PMID:18779604, PMID:19043619, PMID:20104584, PMID:20127978, PMID:20927582, PMID:21120943, PMID:21218378, PMID:21523855, PMID:21548014, PMID:21702907, PMID:21719596, PMID:21990134, PMID:22009639, PMID:22034289, PMID:22126563, PMID:22228431, PMID:22293751, PMID:22486713, PMID:22874498, PMID:23555315, PMID:23704879, PMID:23893897, PMID:24033266, PMID:24055113, PMID:24123850, PMID:24728327, PMID:25085752, PMID:25525159, PMID:25637381, PMID:25682074, PMID:25741868, PMID:26295337, PMID:26296701, PMID:26467025, PMID:26689913, PMID:26834852, PMID:26920070, PMID:27376475, PMID:28222693, PMID:28492532, PMID:28831036, PMID:29394989, PMID:29753700, PMID:29884841, PMID:30254663, PMID:31131967 RGD:734658 NCBI chr11:8,805,950...8,858,128 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 chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,433...66,324,174
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 anemia, complementation group A
ClinVar Annotator: match by term: Fanconi's anemia
DNA:missense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, transitions:exon, intron:multiple
CTD
ClinVar
RGD
PMID:1792455, PMID:2472832, PMID:8502512, PMID:08896563, PMID:09371798, PMID:09399890, PMID:9711872, PMID:9721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11110674, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12827451, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16015582, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16445838, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:19423727, PMID:21273304, PMID:21279724, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22482891, PMID:22720145, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24689079, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25239263, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25703136, PMID:25741868, PMID:25751062, PMID:26136524, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26689913, PMID:26740942, PMID:26799702, PMID:26841305, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28687356, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29797310, PMID:29904161, PMID:30031030, PMID:30032139, PMID:30086788, PMID:30311386 RGD:11344899, RGD:11344914, RGD:11344919 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
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:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
JBrowse link
G FANCC FA complementation group C onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1574115, PMID:1641028, PMID:7492758, PMID:7689011, PMID:8081385, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10666230, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21520333, PMID:21659346, PMID:22482891, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551, PMID:32566746 RGD:11041907, RGD:11344914 NCBI chr10:26,796,546...27,055,271 JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
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 chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
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 chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,726...36,885,856
JBrowse link
G FANCG FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9806458, PMID:9806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24033266, PMID:24136620, PMID:24584348, PMID:24728327, PMID:25703136, PMID:25741868, PMID:26689913, PMID:26968956, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:30031030 RGD:1599879 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
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 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
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 chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
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 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922
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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
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 chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,018
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 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
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 6:211,480...246,109
Ensembl chr 6:211,487...243,636
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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 chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980
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 6:298,034...316,451
Ensembl chr 6:298,036...313,366
JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212, PMID:12670332, PMID:15695377, PMID:24728327, PMID:25741868, PMID:26689913, PMID:28492532, PMID:30031030, PMID:32566746 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:11157798, PMID:11802209, PMID:12496476, PMID:15235020, PMID:17308087, PMID:17574969, PMID:17924331, PMID:19200354, PMID:19563646, PMID:20516115, PMID:21324516, PMID:21356067, PMID:21473589, PMID:21702907, PMID:21965345, PMID:21990134, PMID:22889855, PMID:23867111, PMID:24055113, PMID:24569164, PMID:25472942, PMID:25741868, PMID:26467025, PMID:28265380, PMID:28324225, PMID:28477318, PMID:28492532, PMID:28724667, PMID:28831036, PMID:29712865, PMID:30103829 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G FANCA FA complementation group A ISO OMIM NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
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:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
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 chr10:26,796,546...27,055,271 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 chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
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 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
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 chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
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 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
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 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
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 chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980
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 6:298,034...316,451
Ensembl chr 6:298,036...313,366
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:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C ClinVar PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:10431244, PMID:11050007, PMID:12093742, PMID:12670332, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17924555, PMID:19278965, PMID:20869034, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G FANCC FA complementation group C ISO OMIM NCBI chr10:26,796,546...27,055,271 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 chr11:8,805,950...8,858,128 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 chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
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 chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
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 chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,726...36,885,856
JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO OMIM NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
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 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
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 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
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 chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
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 chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980
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 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
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 chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,018
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 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
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 3:29,266,234...29,306,109
Ensembl chr 3:29,266,236...29,306,116
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 chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,647...130,640,136
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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
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 chr10:24,454,492...24,459,085
Ensembl chr10:24,454,495...24,459,057
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 chr18:4,808,428...4,834,281
Ensembl chr18:4,808,469...4,835,804
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 6:71,773,680...71,779,192
Ensembl chr 6:71,773,681...71,779,183
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 6:12,952,243...12,994,053
Ensembl chr 6:12,952,350...12,994,050
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 chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
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 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
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 chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
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 chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,619
JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
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 chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
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 7:97,893,182...97,940,932
Ensembl chr 7:97,875,220...97,940,902
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 7:98,203,820...98,246,199
Ensembl chr 7:98,203,814...98,259,183
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 chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
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 chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
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 3:2,145,178...2,266,377
Ensembl chr 3:2,145,177...2,266,356
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 chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,553
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 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,514
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,661,106...45,720,783
JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,514...46,174,589
JBrowse link
G CD3D CD3d molecule ISO OMIM NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221
JBrowse link
G CD3E CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,481...45,635,379
JBrowse link
G CD3G CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,229,729...46,239,433
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,127,488...46,146,637
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,445...46,063,814
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,870...46,316,848
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,963...46,220,073
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,313,936
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,929...46,276,996
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,870
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,553...45,389,323
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,484,999...45,534,863
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,743,566...45,828,559 JBrowse link
G LOC100522201 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084
JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,511...45,578,185
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,026...45,564,195
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 9:45,902,099...45,949,415
Ensembl chr 9:45,902,105...45,949,417
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,727...46,242,432
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,451,473...45,475,606 JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,282...46,254,017
JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,176...45,838,975
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,400,263...45,436,936
Ensembl chr 9:45,400,464...45,435,916
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,170...46,246,344
JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,645,292...45,704,745
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,489...46,202,753
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 9:46,285,718...46,297,465
Ensembl chr 9:46,285,729...46,297,465
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 6:88,719,886...88,745,922
Ensembl chr 6:88,720,176...88,745,917
JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTPS1 CTP synthase 1 ISO OMIM NCBI chr 6:170,201,749...170,233,105
Ensembl chr 6:170,201,748...170,233,054
JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO OMIM NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,359...79,847,281
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 chr 3:56,515,446...56,541,806
Ensembl chr 3:56,515,449...56,541,740
JBrowse link
immunodeficiency 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM4 minichromosome maintenance complex component 4 ISO OMIM NCBI chr 4:79,674,737...79,686,964
Ensembl chr 4:79,674,737...79,687,307
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 chr14:31,012,212...31,028,008
Ensembl chr14:31,011,644...31,028,639
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 chr14:12,437,551...12,563,548
Ensembl chr14:12,437,515...12,563,544
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 chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
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 chr12:53,259,867...53,281,127
Ensembl chr12:53,259,940...53,281,520
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 chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
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 chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352
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 chr12:53,410,833...53,426,165
Ensembl chr12:53,410,176...53,423,225
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 chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207
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 chr12:53,135,767...53,163,244
Ensembl chr12:53,112,230...53,165,653
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 chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
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 chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667
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 chr12:53,427,807...53,454,149 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 chr12:52,982,217...53,086,744 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 chr12:52,970,398...52,976,260
Ensembl chr12:52,970,484...52,976,261
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 chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
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 chr12:53,334,350...53,339,336
Ensembl chr12:53,334,901...53,337,376
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 chr12:53,171,315...53,178,924
Ensembl chr12:53,171,318...53,180,823
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 chr12:53,087,072...53,108,949
Ensembl chr12:53,091,334...53,108,214
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 chr12:53,111,249...53,112,487 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 chr12:53,517,175...53,525,458 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 chr12:53,361,863...53,376,723
Ensembl chr12:53,361,868...53,376,611
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 chr12:53,458,401...53,477,254 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 chr12:53,484,584...53,486,716
Ensembl chr12:53,485,280...53,525,756
JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, PMID:28492532 NCBI chr12:53,163,996...53,166,418
Ensembl chr12:53,163,863...53,166,567
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 chr12:53,548,313...53,553,453
Ensembl chr12:53,548,321...53,553,451
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 chr12:53,486,687...53,495,972
Ensembl chr12:53,486,247...53,495,986
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 chr12:53,394,500...53,397,064
Ensembl chr12:53,393,043...53,397,051
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 chr12:53,109,467...53,110,648
Ensembl chr12:53,109,621...53,110,646
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni
ClinVar Annotator: match by term: Li-Fraumeni syndrome
DNA:missense mutations
CTD
ClinVar
RGD
PMID:887414, PMID:920706, PMID:1349102, PMID:1349175, PMID:1359493, PMID:1394133, PMID:1467311, PMID:1552135, PMID:1559227, PMID:1562462, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1581912, PMID:1591732, PMID:1631137, PMID:1631151, PMID:1644930, PMID:1672732, PMID:1673792, PMID:1679237, PMID:1683921, PMID:1686725, PMID:1737852, PMID:1849234, PMID:1915267, PMID:1918170, PMID:1933902, PMID:1975675, PMID:1978757, PMID:1999338, PMID:2046748, PMID:2113594, PMID:2134334, PMID:2259385, PMID:2531845, PMID:2554494, PMID:2750177, PMID:2802540, PMID:2826609, PMID:7565304, PMID:7599045, PMID:7651740, PMID:7664239, PMID:7669577, PMID:7700647, PMID:7706467, PMID:7707106, PMID:7732013, PMID:7750099, PMID:7761089, PMID:7783166, PMID:7791795, PMID:7796267, PMID:7881428, PMID:7887414, PMID:7936651, PMID:7955036, PMID:7966399, PMID:7969167, PMID:7978053, PMID:7981076, PMID:8012986, PMID:8023157, PMID:8062826, PMID:8075648, PMID:8080050, PMID:8099841, PMID:8102535, PMID:8118819, PMID:8134126, PMID:8134127, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8242631, PMID:8242752, PMID:8308926, PMID:8336941, PMID:8352280, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479743, PMID:8479749, PMID:8527048, PMID:8550239, PMID:8633021, PMID:8639798, PMID:8649785, PMID:8675009, PMID:8688334, PMID:8700525, PMID:8710380, PMID:8718514, PMID:8756654, PMID:8825920, PMID:8829627, PMID:9020384, PMID:9047394, PMID:9049183, PMID:9067756, PMID:9096669, PMID:9115587, PMID:9150393, PMID:9157982, PMID:9207066, PMID:9218725, PMID:9242456, PMID:9285560, PMID:9290701, PMID:9301461, PMID:9364015, PMID:9367778, PMID:9405613, PMID:9407971, PMID:9446663, PMID:9452042, PMID:9470817, PMID:9472631, PMID:9482117, PMID:9524109, PMID:9525742, PMID:9546439, PMID:9569035, PMID:9569050, PMID:9572492, PMID:9582268, PMID:9598730, PMID:9607760, PMID:9627118, PMID:9632751, PMID:9635828, PMID:9662334, PMID:9667734, PMID:9681828, PMID:9704930, PMID:9704931, PMID:9723024, PMID:9766574, PMID:9792154, PMID:9825943, PMID:9839505, PMID:9865903, PMID:9891044, PMID:10064694, PMID:10206274, PMID:10229196, PMID:10329187, PMID:10389749, PMID:10408787, PMID:10411893, PMID:10432928, PMID:10435620, PMID:10486243, PMID:10486318, PMID:10497279, PMID:10507764, PMID:10519380, PMID:10519384, PMID:10554037, PMID:10557074, PMID:10567903, PMID:10589545, PMID:10616528, PMID:10629033, PMID:10653977, PMID:10654936, PMID:10697617, PMID:10706125, PMID:10713666, PMID:10719737, PMID:10753186, PMID:10754498, PMID:10761705, PMID:10777217, PMID:10780666, PMID:10797439, PMID:10802655, PMID:10811497, PMID:10854221, PMID:10864200, PMID:10871862, PMID:10914716, PMID:10922393, PMID:10949938, PMID:10980596, PMID:11040944, PMID:11051239, PMID:11051241, PMID:11101847, PMID:11124955, PMID:11139324, PMID:11161397, PMID:11180592, PMID:11222779, PMID:11229518, PMID:11238924, PMID:11285227, PMID:11313981, PMID:11315715, PMID:11332399, PMID:11358831, PMID:11359905, PMID:11370630, PMID:11391594, PMID:11403041, PMID:11420672, PMID:11420676, PMID:11423991, PMID:11429700, PMID:11429705, PMID:11453810, PMID:11479205, PMID:11481490, PMID:11494139, PMID:11518751, PMID:11590071, PMID:11593407, PMID:11600572, PMID:11668476, PMID:11715068, PMID:11753428, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11900253, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12019170, PMID:12034820, PMID:12067251, PMID:12070601, PMID:12076704, PMID:12124823, PMID:12209975, PMID:12406399, PMID:12433927, PMID:12509279, PMID:12509970, PMID:12524418, PMID:12567188, PMID:12610779, PMID:12619118, PMID:12672316, PMID:12695689, PMID:12700230, PMID:12702523, PMID:12716906, PMID:12725534, PMID:12726864, PMID:12759621, PMID:12779080, PMID:12792784, PMID:12826609, PMID:12885464, PMID:12901974, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14612556, PMID:14656244, PMID:14670539, PMID:14673037, PMID:14695212, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15060172, PMID:15077194, PMID:15095302, PMID:15121773, PMID:15138567, PMID:15161705, PMID:15173255, PMID:15192123, PMID:15221755, PMID:15308588, PMID:15342977, PMID:15355915, PMID:15381368, PMID:15390294, PMID:15489903, PMID:15523690, PMID:15541116, PMID:15548685, PMID:15564800, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15611070, PMID:15630097, PMID:15654279, PMID:15659650, PMID:15703170, PMID:15722483, PMID:15741269, PMID:15756275, PMID:15781620, PMID:15781632, PMID:15784129, PMID:15825182, PMID:15850016, PMID:15851479, PMID:15925506, PMID:15951970, PMID:15964795, PMID:15977174, PMID:15982667, PMID:15993273, PMID:16000567, PMID:16007150, PMID:16033918, PMID:16061860, PMID:16199549, PMID:16204849, PMID:16209708, PMID:16258005, PMID:16288208, PMID:16312222, PMID:16322298, PMID:16333835, PMID:16337994, PMID:16401470, PMID:16437140, PMID:16474844, PMID:16477330, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16522644, PMID:16534790, PMID:16551709, PMID:16596195, PMID:16633321, PMID:16644204, PMID:16682957, PMID:16687402, PMID:16707427, PMID:16736287, PMID:16741917, PMID:16778209, PMID:16793544, PMID:16818505, PMID:16818665, PMID:16821082, PMID:16827139, PMID:16861262, PMID:16907706, PMID:16941491, PMID:16964264, PMID:16969106, PMID:17002294, PMID:17015838, PMID:17133269, PMID:17170001, PMID:17189187, PMID:17224074, PMID:17224268, PMID:17289876, PMID:17301252, PMID:17308077, PMID:17311302, PMID:17318340, PMID:17390010, PMID:17401428, PMID:17401432, PMID:17417627, PMID:17417775, PMID:17427234, PMID:17436385, PMID:17530187, PMID:17535973, PMID:17540308, PMID:17541742, PMID:17557566, PMID:17567834, PMID:17572079, PMID:17599946, PMID:17606709, PMID:17636407, PMID:17638920, PMID:17683073, PMID:17690113, PMID:17724467, PMID:17727479, PMID:17875924, PMID:17903248, PMID:17947339, PMID:17977830, PMID:17982662, PMID:18037961, PMID:18199664, PMID:18208484, PMID:18248785, PMID:18307025, PMID:18348285, PMID:18348286, PMID:18357466, PMID:18391940, PMID:18393224, PMID:18413811, PMID:18453682, PMID:18477611, PMID:18489080, PMID:18511570, PMID:18555592, PMID:18575712, PMID:18580489, PMID:18628487, PMID:18685109, PMID:18762572, PMID:18798306, PMID:18818522, PMID:18923929, PMID:18978813, PMID:18989156, PMID:19012332, PMID:19052714, PMID:19101993, PMID:19127094, PMID:19127115, PMID:19147582, PMID:19160491, PMID:19165225, PMID:19171880, PMID:19224462, PMID:19336573, PMID:19367287, PMID:19367569, PMID:19378321, PMID:19405127, PMID:19416725, PMID:19454241, PMID:19462533, PMID:19468865, PMID:19509155, PMID:19521721, PMID:19523860, PMID:19556618, PMID:19558493, PMID:19671856, PMID:19681600, PMID:19711436, PMID:19714488, PMID:19714490, PMID:19717094, PMID:19756158, PMID:19759556, PMID:19763152, PMID:19786980, PMID:19806023, PMID:19834951, PMID:19850740, PMID:19877175, PMID:19881536, PMID:19909015, PMID:19913028, PMID:19930417, PMID:19933256, PMID:19958544, PMID:20010306, PMID:20013323, PMID:20017945, PMID:20025891, PMID:20028212, PMID:20113312, PMID:20118236, PMID:20127978, PMID:20128691, PMID:20182602, PMID:20195489, PMID:20198344, PMID:20234365, PMID:20301488, PMID:20307669, PMID:20308654, PMID:20364130, PMID:20407015, PMID:20421238, PMID:20436704, PMID:20443084, PMID:20449797, PMID:20455025, PMID:20471942, PMID:20478780, PMID:20504876, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20520810, PMID:20522432, PMID:20538734, PMID:20575032, PMID:20634494, PMID:20638924, PMID:20658636, PMID:20689556, PMID:20693561, PMID:20805372, PMID:20878954, PMID:20932800, PMID:20967502, PMID:20972454, PMID:20978130, PMID:21056402, PMID:21056685, PMID:21059199, PMID:21080251, PMID:21115975, PMID:21118481, PMID:21159183, PMID:21187651, PMID:21192060, PMID:21225465, PMID:21232794, PMID:21288114, PMID:21305319, PMID:21319261, PMID:21339461, PMID:21343334, PMID:21345075, PMID:21348412, PMID:21348641, PMID:21356188, PMID:21380628, PMID:21445056, PMID:21464421, PMID:21470402, PMID:21483000, PMID:21484931, PMID:21488255, PMID:21512767, PMID:21514416, PMID:21519010, PMID:21520333, PMID:21522129, PMID:21528875, PMID:21535297, PMID:21546086, PMID:21552135, PMID:21561095, PMID:21601526, PMID:21619694, PMID:21621601, PMID:21626334, PMID:21637529, PMID:21665182, PMID:21666498, PMID:21672450, PMID:21674059, PMID:21747090, PMID:21760960, PMID:21760996, PMID:21761402, PMID:21763698, PMID:21900752, PMID:21901162, PMID:21904608, PMID:21934104, PMID:21953469, PMID:22006311, PMID:22040862, PMID:22052707, PMID:22090360, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22170717, PMID:22178617, PMID:22186996, PMID:22187033, PMID:22188361, PMID:22198284, PMID:22203015, PMID:22228431, PMID:22233476, PMID:22265402, PMID:22319594, PMID:22354696, PMID:22356895, PMID:22373952, PMID:22406018, PMID:22427690, PMID:22495821, PMID:22507745, PMID:22540896, PMID:22551440, PMID:22571758, PMID:22652532, PMID:22653678, PMID:22672556, PMID:22698404, PMID:22703879, PMID:22710932, PMID:22713868, PMID:22722193, PMID:22729912, PMID:22744426, PMID:22768918, PMID:22797305, PMID:22811390, PMID:22829111, PMID:22844452, PMID:22847613, PMID:22851211, PMID:22862161, PMID:22866089, PMID:22877736, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22923433, PMID:22949826, PMID:22983585, PMID:22989750, PMID:22992668, PMID:22999923, PMID:23031740, PMID:23117049, PMID:23124483, PMID:23149933, PMID:23161690, PMID:23165212, PMID:23172776, PMID:23175693, PMID:23196062, PMID:23200980, PMID:23246812, PMID:23255406, PMID:23259501, PMID:23263379, PMID:23264849, PMID:23265383, PMID:23297687, PMID:23315175, PMID:23334666, PMID:23334668, PMID:23340422, PMID:23355100, PMID:23359294, PMID:23403321, PMID:23406775, PMID:23409989, PMID:23469205, PMID:23484829, PMID:23525797, PMID:23531339, PMID:23538418, PMID:23555315, PMID:23570263, PMID:23580068, PMID:23612572, PMID:23612969, PMID:23624782, PMID:23625637, PMID:23630318, PMID:23639785, PMID:23665223, PMID:23667202, PMID:23667851, PMID:23713777, PMID:23733769, PMID:23792586, PMID:23887774, PMID:23894400, PMID:23897043, PMID:23950206, PMID:23967324, PMID:23973262, PMID:23981578, PMID:24009708, PMID:24033266, PMID:24038938, PMID:24076587, PMID:24113472, PMID:24122735, PMID:24198462, PMID:24218030, PMID:24256616, PMID:24278325, PMID:24307375, PMID:24326041, PMID:24336192, PMID:24373500, PMID:24381225, PMID:24382691, PMID:24384472, PMID:24395441, PMID:24448499, PMID:24451277, PMID:24487276, PMID:24487413, PMID:24501221, PMID:24549055, PMID:24556621, PMID:24573247, PMID:24590827, PMID:24594805, PMID:24603336, PMID:24630730, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24663046, PMID:24665023, PMID:24677579, PMID:24682512, PMID:24700732, PMID:24702488, PMID:24724063, PMID:24728327, PMID:24729566, PMID:24733378, PMID:24763289, PMID:24764719, PMID:24766216, PMID:24797764, PMID:24803582, PMID:24810334, PMID:24813712, PMID:24814347, PMID:24835218, PMID:24835311, PMID:24853176, PMID:24868540, PMID:24884479, PMID:24896186, PMID:24908601, PMID:24916180, PMID:24929325, PMID:24936644, PMID:24940547, PMID:24952744, PMID:25034526, PMID:25047674, PMID:25056374, PMID:25074920, PMID:25119136, PMID:25122428, PMID:25123297, PMID:25149524, PMID:25157968, PMID:25169539, PMID:25184754, PMID:25186627, PMID:25226867, PMID:25234657, PMID:25293557, PMID:25294809, PMID:25299233, PMID:25303977, PMID:25318351, PMID:25326637, PMID:25339039, PMID:25339994, PMID:25348012, PMID:25365311, PMID:25374282, PMID:25428789, PMID:25433984, PMID:25452441, PMID:25460562, PMID:25490274, PMID:25490678, PMID:25503501, PMID:25504633, PMID:25512523, PMID:25516983, PMID:25525159, PMID:25527155, PMID:25544776, PMID:25564201, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25589003, PMID:25612911, PMID:25619955, PMID:25634010, PMID:25634208, PMID:25637381, PMID:25669829, PMID:25691460, PMID:25741868, PMID:25742471, PMID:25757876, PMID:25762628, PMID:25787918, PMID:25794615, PMID:25846456, PMID:25856671, PMID:25860607, PMID:25881545, PMID:25886176, PMID:25896519, PMID:25923920, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:25980754, PMID:25981898, PMID:26000489, PMID:26010451, PMID:26014290, PMID:26024390, PMID:26029016, PMID:26086041, PMID:26094658, PMID:26181206, PMID:26200271, PMID:26205489, PMID:26206375, PMID:26225655, PMID:26230955, PMID:26270727, PMID:26332594, PMID:26367797, PMID:26425688, PMID:26447779, PMID:26452166, PMID:26467025, PMID:26475379, PMID:26484312, PMID:26497680, PMID:26527317, PMID:26534844, PMID:26554828, PMID:26556299, PMID:26572807, PMID:26580448, PMID:26585234, PMID:26619011, PMID:26628864, PMID:26641009, PMID:26659639, PMID:26681051, PMID:26681312, PMID:26681682, PMID:26690524, PMID:26696550, PMID:26718964, PMID:26743472, PMID:26781615, PMID:26786923, PMID:26787237, PMID:26818906, PMID:26822237, PMID:26837699, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27034505, PMID:27059324, PMID:27077130, PMID:27091190, PMID:27101868, PMID:27146902, PMID:27150160, PMID:27153395, PMID:27157322, PMID:27179933, PMID:27189670, PMID:27194209, PMID:27210295, PMID:27223487, PMID:27242894, PMID:27267833, PMID:27276561, PMID:27276934, PMID:27297285, PMID:27328919, PMID:27374712, PMID:27391063, PMID:27443514, PMID:27443517, PMID:27449771, PMID:27463065, PMID:27484708, PMID:27489289, PMID:27493922, PMID:27496084, PMID:27501770, PMID:27516001, PMID:27523101, PMID:27533082, PMID:27545002, PMID:27616075, PMID:27619989, PMID:27621308, PMID:27622479, PMID:27626311, PMID:27657329, PMID:27662657, PMID:27663983, PMID:27680515, PMID:27683180, PMID:27714481, PMID:27724982, PMID:27726232, PMID:27741277, PMID:27785980, PMID:27834926, PMID:27866339, PMID:27895058, PMID:27911860, PMID:27923552, PMID:27959731, PMID:27978560, PMID:28025407, PMID:28091804, PMID:28125078, PMID:28135145, PMID:28152038, PMID:28199989, PMID:28202063, PMID:28222664, PMID:28230820, PMID:28234344, PMID:28255015, PMID:28279309, PMID:28288110, PMID:28349240, PMID:28369373, PMID:28408749, PMID:28452373, PMID:28453743, PMID:28472496, PMID:28475293, PMID:28476805, PMID:28477316, PMID:28477317, PMID:28486781, PMID:28492532, PMID:28499267, PMID:28503720, PMID:28528518, PMID:28573494, PMID:28649645, PMID:28664506, PMID:28681140, PMID:28724667, PMID:28744014, PMID:28772286, PMID:28819011, PMID:28826481, PMID:28843361, PMID:28861920, PMID:28902083, PMID:28915717, PMID:28961279, PMID:28975465, PMID:29025599, PMID:29056573, PMID:29070607, PMID:29079597, PMID:29126202, PMID:29170254, PMID:29225734, PMID:29247016, PMID:29300620, PMID:29324801, PMID:29338689, PMID:29348365, PMID:29360161, PMID:29365323, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29522266, PMID:29667044, PMID:29752822, PMID:29753700, PMID:29769598, PMID:29770616, PMID:29774081, PMID:29785153, PMID:29936259, PMID:29945567, PMID:29946497, PMID:29955864, PMID:29958926, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30092803, PMID:30107858, PMID:30128536, PMID:30181807, PMID:30190792, PMID:30212483, PMID:30216591, PMID:30224644, PMID:30256826, PMID:30287823, PMID:30297838, PMID:30306255, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30374176, PMID:30450585, PMID:30588330, PMID:30607672, PMID:30630526, PMID:30709381, PMID:30709875, PMID:30720243, PMID:30840781, PMID:30883245, PMID:31016814, PMID:31081129, PMID:31105275, PMID:31159747, PMID:31235699, PMID:31422574, PMID:31775759, PMID:32566746 RGD:2290542 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 chr12:53,179,257...53,180,981 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 chr12:53,378,407...53,382,243 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 chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,974,741
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 chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
G TP53 tumor protein p53 ISO OMIM NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,974,741
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 chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 1:144,316,119...144,788,091
Ensembl chr 1:144,316,121...144,788,091
JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component ISO OMIM NCBI chr 1:144,469,617...144,474,026 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 3:5,109,617...5,117,919
Ensembl chr 3:5,109,617...5,117,985
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 3:5,097,791...5,102,259
Ensembl chr 3:5,097,970...5,102,022
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,704...25,884,153
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 3:5,075,026...5,113,390
Ensembl chr 3:5,075,037...5,113,622
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:25741868 NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,814...98,259,183
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 chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
JBrowse link
G EPM2AIP1 EPM2A interacting protein 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr13:21,877,863...21,886,210
Ensembl chr13:21,878,012...21,887,041
JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,619
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 chr13:21,666,896...21,790,352
Ensembl chr13:21,670,424...21,790,343
JBrowse link
G MLH1 mutL homolog 1 ISO CTD Direct Evidence: marker/mechanism
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
DNA:mutations:premature translation termination
CTD
ClinVar
RGD
PMID:16, PMID:1522200, PMID:1749856, PMID:1756143, PMID:2022152, PMID:4063166, PMID:5713769, PMID:7557107, PMID:7584997, PMID:7704024, PMID:7705822, PMID:7728749, PMID:7757073, PMID:7812952, PMID:8128251, PMID:8145827, PMID:8198129, PMID:8521394, PMID:8521398, PMID:8566964, PMID:8571956, PMID:8574961, PMID:8581513, PMID:8592341, PMID:8646682, PMID:8751876, PMID:8776590, PMID:8797773, PMID:08808596, PMID:8863153, PMID:8872463, PMID:8880570, PMID:8895729, PMID:8938136, PMID:8940269, PMID:8971183, PMID:8993976, PMID:9032648, PMID:9052445, PMID:9071575, PMID:9087566, PMID:9218993, PMID:9234704, PMID:9272156, PMID:9288790, PMID:9298827, PMID:9311737, PMID:9322509, PMID:9326924, PMID:9377556, PMID:9399661, PMID:9419403, PMID:9490293, PMID:9506527, PMID:9526167, PMID:9559627, PMID:9611074, PMID:9634524, PMID:9697702, PMID:9718327, PMID:9777949, PMID:9788388, PMID:9806477, PMID:9820400, PMID:9831355, PMID:9833759, PMID:9927033, PMID:9927034, PMID:10037723, PMID:10082584, PMID:10196371, PMID:10200055, PMID:10323887, PMID:10348818, PMID:10375096, PMID:10386556, PMID:10389971, PMID:10422993, PMID:10446963, PMID:10448273, PMID:10471527, PMID:10480359, PMID:10495924, PMID:10521294, PMID:10533476, PMID:10534773, PMID:10573010, PMID:10598809, PMID:10601588, PMID:10612827, PMID:10660333, PMID:10709098, PMID:10713887, PMID:10732761, PMID:10777691, PMID:10793088, PMID:10799973, PMID:10829038, PMID:10861474, PMID:10874307, PMID:10882759, PMID:10923051, PMID:10970186, PMID:10985134, PMID:10995807, PMID:11015456, PMID:11093816, PMID:11112663, PMID:11139242, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11291077, PMID:11292842, PMID:11304573, PMID:11306449, PMID:11342971, PMID:11343035, PMID:11369138, PMID:11376800, PMID:11385712, PMID:11427529, PMID:11429708, PMID:11474654, PMID:11507050, PMID:11524701, PMID:11555625, PMID:11585727, PMID:11601928, PMID:11606497, PMID:11726306, PMID:11748856, PMID:11754112, PMID:11781295, PMID:11793442, PMID:11839723, PMID:11879922, PMID:11920458, PMID:11920650, PMID:11948175, PMID:12011148, PMID:12037578, PMID:12052501, PMID:12067992, PMID:12070261, PMID:12095971, PMID:12112654, PMID:12115348, PMID:12132870, PMID:12173039, PMID:12183410, PMID:12200596, PMID:12362047, PMID:12362848, PMID:12373605, PMID:12377806, PMID:12386821, PMID:12414623, PMID:12414824, PMID:12419761, PMID:12513688, PMID:12522551, PMID:12537657, PMID:12547705, PMID:12555990, PMID:12618391, PMID:12624141, PMID:12655562, PMID:12655568, PMID:12658575, PMID:12799449, PMID:12808326, PMID:12810663, PMID:12874865, PMID:12919137, PMID:12919140, PMID:14504054, PMID:14512394, PMID:14514376, PMID:14517962, PMID:14526391, PMID:14574010, PMID:14635101, PMID:14645426, PMID:14688830, PMID:14699485, PMID:14756672, PMID:14762794, PMID:14871975, PMID:14961575, PMID:14970868, PMID:14985405, PMID:15024732, PMID:15046089, PMID:15099349, PMID:15133479, PMID:15139004, PMID:15173238, PMID:15178966, PMID:15184898, PMID:15217520, PMID:15222003, PMID:15235038, PMID:15253764, PMID:15254659, PMID:15289847, PMID:15300854, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15345113, PMID:15365995, PMID:15365996, PMID:15466831, PMID:15475387, PMID:15494688, PMID:15520370, PMID:15555211, PMID:15563510, PMID:15571801, PMID:15613555, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15765394, PMID:15786548, PMID:15845562, PMID:15849733, PMID:15849752, PMID:15855432, PMID:15864295, PMID:15870828, PMID:15872200, PMID:15926618, PMID:15943554, PMID:15955785, PMID:15991064, PMID:15991306, PMID:15996210, PMID:16034045, PMID:16083711, PMID:16116158, PMID:16142001, PMID:16143124, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16276679, PMID:16288214, PMID:16338176, PMID:16341550, PMID:16341804, PMID:16395668, PMID:16425354, PMID:16451135, PMID:16456782, PMID:16521201, PMID:16616355, PMID:16636019, PMID:16685411, PMID:16724012, PMID:16736289, PMID:16736291, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16885385, PMID:16929514, PMID:16941473, PMID:16963262, PMID:16982745, PMID:16995940, PMID:17011982, PMID:17054581, PMID:17074586, PMID:17087981, PMID:17095871, PMID:17117178, PMID:17135187, PMID:17192056, PMID:17199584, PMID:17203532, PMID:17210669, PMID:17222328, PMID:17228328, PMID:17267619, PMID:17301300, PMID:17312306, PMID:17348456, PMID:17417778, PMID:17440950, PMID:17440981, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17569143, PMID:17576681, PMID:17594722, PMID:17653898, PMID:17665423, PMID:17690979, PMID:17889038, PMID:17895478, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18205192, PMID:18227862, PMID:18270343, PMID:18301448, PMID:18307539, PMID:18325052, PMID:18337503, PMID:18373977, PMID:18383312, PMID:18389388, PMID:18415027, PMID:18470917, PMID:18518984, PMID:18547406, PMID:18556772, PMID:18561205, PMID:18566915, PMID:18618713, PMID:18625694, PMID:18636350, PMID:18713544, PMID:18726168, PMID:18759827, PMID:18772310, PMID:18809606, PMID:18931482, PMID:18951437, PMID:19015241, PMID:19047842, PMID:19072991, PMID:19116412, PMID:19117025, PMID:19120036, PMID:19130300, PMID:19133695, PMID:19142183, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19324997, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19504447, PMID:19526325, PMID:19575290, PMID:19621678, PMID:19665066, PMID:19669161, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19731080, PMID:19760518, PMID:19863800, PMID:20007843, PMID:20020535, PMID:20045164, PMID:20167975, PMID:20176655, PMID:20176959, PMID:20215533, PMID:20223024, PMID:20233461, PMID:20305446, PMID:20373145, PMID:20459533, PMID:20533529, PMID:20587412, PMID:20682701, PMID:20704743, PMID:20717847, PMID:20858721, PMID:20864636, PMID:20937110, PMID:20978114, PMID:20978117, PMID:21034533, PMID:21056691, PMID:21064154, PMID:21120944, PMID:21153778, PMID:21155023, PMID:21239990, PMID:21247423, PMID:21286667, PMID:21286823, PMID:21311894, PMID:21348412, PMID:21387278, PMID:21404117, PMID:21404177, PMID:21475916, PMID:21520333, PMID:21598002, PMID:21636617, PMID:21642682, PMID:21671081, PMID:21671475, PMID:21681552, PMID:21778331, PMID:21868491, PMID:21901500, PMID:21952876, PMID:22081473, PMID:22086678, PMID:22102614, PMID:22136435, PMID:22252508, PMID:22290698, PMID:22322191, PMID:22395473, PMID:22426235, PMID:22453149, PMID:22480969, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22773173, PMID:22776989, PMID:22788692, PMID:22843852, PMID:22854115, PMID:22875147, PMID:22878509, PMID:22883484, PMID:22949379, PMID:22949387, PMID:22987205, PMID:22995991, PMID:23047549, PMID:23112559, PMID:23329266, PMID:23354017, PMID:23403630, PMID:23431106, PMID:23523604, PMID:23544471, PMID:23573243, PMID:23612316, PMID:23640085, PMID:23695190, PMID:23712482, PMID:23729658, PMID:23741719, PMID:23747338, PMID:23752102, PMID:23760103, PMID:23990280, PMID:24032978, PMID:24033266, PMID:24055113, PMID:24090359, PMID:24122200, PMID:24204293, PMID:24278394, PMID:24292105, PMID:24323032, PMID:24333619, PMID:24344984, PMID:24362816, PMID:24440087, PMID:24456667, PMID:24549055, PMID:24689082, PMID:24710284, PMID:24728327, PMID:24743384, PMID:24802709, PMID:24811117, PMID:24851142, PMID:24933000, PMID:24953332, PMID:25060679, PMID:25077178, PMID:25081409, PMID:25110875, PMID:25111426, PMID:25115387, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25148578, PMID:25157968, PMID:25186627, PMID:25197397, PMID:25338684, PMID:25345868, PMID:25420488, PMID:25430799, PMID:25435955, PMID:25477341, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25530820, PMID:25559809, PMID:25576899, PMID:25617771, PMID:25637381, PMID:25640679, PMID:25648859, PMID:25701956, PMID:25741868, PMID:25762362, PMID:25782445, PMID:25823662, PMID:25851949, PMID:25871441, PMID:25871621, PMID:25882375, PMID:25892863, PMID:25927356, PMID:25980754, PMID:26053027, PMID:26078562, PMID:26096739, PMID:26202870, PMID:26206375, PMID:26247049, PMID:26248088, PMID:26249686, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26437357, PMID:26467025, PMID:26485756, PMID:26517685, PMID:26552419, PMID:26557847, PMID:26580448, PMID:26628864, PMID:26637282, PMID:26659639, PMID:26666765, PMID:26681312, PMID:26761715, PMID:26811195, PMID:26845104, PMID:26888055, PMID:26895986, PMID:26898890, PMID:26900293, PMID:26976419, PMID:27064304, PMID:27093186, PMID:27152634, PMID:27153395, PMID:27173243, PMID:27185373, PMID:27295708, PMID:27435373, PMID:27449771, PMID:27487738, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27602174, PMID:27629256, PMID:27647783, PMID:27696107, PMID:27732944, PMID:27831900, PMID:27978560, PMID:28127413, PMID:28135145, PMID:28152038, PMID:28259476, PMID:28334867, PMID:28349240, PMID:28445943, PMID:28449805, PMID:28492532, PMID:28514183, PMID:28526081, PMID:28528518, PMID:28687356, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29050249, PMID:29124495, PMID:29151953, PMID:29212164, PMID:29228462, PMID:29288294, PMID:29360161, PMID:29360550, PMID:29368341, PMID:29419868, PMID:29472279, PMID:29505604, PMID:29506128, PMID:29520894, PMID:29575718, PMID:29596542, PMID:29755653, PMID:29758216, PMID:29887214, PMID:30013564, PMID:30019097, PMID:30093976, PMID:30256826, PMID:30374176, PMID:30504929, PMID:30521064, PMID:30702970, PMID:30720243, PMID:30917047, PMID:30998989, PMID:31118792, PMID:31386297, PMID:31391288, PMID:31784484, PMID:32566746 RGD:1625106 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
JBrowse link
G MSH2 mutS homolog 2 ISO DNA:mutations:premature translation termination
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1061282, PMID:1710317, PMID:2695166, PMID:3616036, PMID:6096739, PMID:7557107, PMID:7585065, PMID:7713503, PMID:7717919, PMID:7726159, PMID:7874129, PMID:7937795, PMID:8062247, PMID:8261515, PMID:8521394, PMID:8566964, PMID:8574961, PMID:8581513, PMID:8589682, PMID:8592341, PMID:8613431, PMID:8723682, PMID:8808596, PMID:8872463, PMID:8880570, PMID:8895729, PMID:8931714, PMID:8993976, PMID:9002677, PMID:9036882, PMID:9052445, PMID:9087566, PMID:9125109, PMID:9217825, PMID:9222765, PMID:9240418, PMID:9288790, PMID:9298827, PMID:9311737, PMID:9506527, PMID:9611074, PMID:9621522, PMID:9634524, PMID:9709044, PMID:9718327, PMID:9739019, PMID:9774676, PMID:9777949, PMID:10023327, PMID:10051005, PMID:10077621, PMID:10080150, PMID:10196371, PMID:10323887, PMID:10369701, PMID:10375096, PMID:10397236, PMID:10404063, PMID:10413423, PMID:10422993, PMID:10432927, PMID:10446963, PMID:10448273, PMID:10469597, PMID:10480359, PMID:10495924, PMID:10523644, PMID:10528862, PMID:10530344, PMID:10564582, PMID:10573010, PMID:10612827, PMID:10612836, PMID:10712226, PMID:10713887, PMID:10732761, PMID:10777691, PMID:10793088, PMID:10812001, PMID:10874307, PMID:10874318, PMID:10882759, PMID:10978353, PMID:10995807, PMID:11074494, PMID:11112663, PMID:11151427, PMID:11179758, PMID:11208710, PMID:11291077, PMID:11304573, PMID:11379475, PMID:11385712, PMID:11420466, PMID:11524701, PMID:11535541, PMID:11555625, PMID:11601928, PMID:11606497, PMID:11691782, PMID:11720433, PMID:11754112, PMID:11769729, PMID:11772966, PMID:11782355, PMID:11809679, PMID:11830542, PMID:11854906, PMID:11870161, PMID:11879922, PMID:11910346, PMID:11920458, PMID:11920650, PMID:11975096, PMID:12067992, PMID:12070261, PMID:12112654, PMID:12115348, PMID:12115503, PMID:12124176, PMID:12132870, PMID:12173039, PMID:12200596, PMID:12324578, PMID:12352241, PMID:12362047, PMID:12373605, PMID:12385013, PMID:12386821, PMID:12414824, PMID:12419761, PMID:12436451, PMID:12454801, PMID:12522549, PMID:12537652, PMID:12547705, PMID:12549480, PMID:12624141, PMID:12626904, PMID:12655562, PMID:12655564, PMID:12655568, PMID:12658575, PMID:12660027, PMID:12694232, PMID:12702580, PMID:12792735, PMID:12875840, PMID:12949792, PMID:14499697, PMID:14504054, PMID:14512394, PMID:14514376, PMID:14526391, PMID:14574162, PMID:14574163, PMID:14580774, PMID:14594944, PMID:14635101, PMID:14729822, PMID:14756672, PMID:14871915, PMID:14871975, PMID:14970868, PMID:14994245, PMID:15046089, PMID:15075785, PMID:15178966, PMID:15217520, PMID:15222003, PMID:15235030, PMID:15235034, PMID:15254659, PMID:15309712, PMID:15340264, PMID:15342696, PMID:15350299, PMID:15365995, PMID:15365996, PMID:15516845, PMID:15520224, PMID:15520370, PMID:15527911, PMID:15571801, PMID:15655560, PMID:15680406, PMID:15713769, PMID:15731775, PMID:15845562, PMID:15849733, PMID:15855432, PMID:15862756, PMID:15872200, PMID:15926618, PMID:15929773, PMID:15942939, PMID:15943554, PMID:15945244, PMID:15955785, PMID:15991308, PMID:15991314, PMID:15996210, PMID:16015629, PMID:16034045, PMID:16086322, PMID:16116158, PMID:16142001, PMID:16143124, PMID:16175654, PMID:16181381, PMID:16199548, PMID:16203774, PMID:16216036, PMID:16237223, PMID:16251890, PMID:16311127, PMID:16327991, PMID:16341550, PMID:16395668, PMID:16408224, PMID:16423994, PMID:16425354, PMID:16451135, PMID:16476474, PMID:16479259, PMID:16500024, PMID:16534870, PMID:16574953, PMID:16614121, PMID:16616355, PMID:16636019, PMID:16639607, PMID:16736289, PMID:16803540, PMID:16807412, PMID:16810763, PMID:16830052, PMID:16837128, PMID:16884359, PMID:16885385, PMID:16929514, PMID:16995940, PMID:16996571, PMID:17011982, PMID:17074586, PMID:17095871, PMID:17101317, PMID:17165155, PMID:17189986, PMID:17192056, PMID:17229076, PMID:17250661, PMID:17250665, PMID:17250671, PMID:17312306, PMID:17348456, PMID:17350822, PMID:17374836, PMID:17414604, PMID:17440950, PMID:17453009, PMID:17473388, PMID:17483304, PMID:17505997, PMID:17531815, PMID:17569143, PMID:17594722, PMID:17601929, PMID:17653898, PMID:17661183, PMID:17720936, PMID:17846840, PMID:17939062, PMID:18033691, PMID:18257912, PMID:18270343, PMID:18289827, PMID:18307539, PMID:18325052, PMID:18383312, PMID:18389388, PMID:18406877, PMID:18415027, PMID:18470917, PMID:18547406, PMID:18556772, PMID:18559331, PMID:18561205, PMID:18566915, PMID:18618713, PMID:18625694, PMID:18636359, PMID:18641418, PMID:18674656, PMID:18726168, PMID:18759827, PMID:18772310, PMID:18781192, PMID:18781619, PMID:18822302, PMID:18841495, PMID:18931482, PMID:18951462, PMID:18951465, PMID:18990764, PMID:19047842, PMID:19072991, PMID:19101824, PMID:19117025, PMID:19250818, PMID:19267393, PMID:19324997, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19659756, PMID:19669161, PMID:19669601, PMID:19685281, PMID:19690142, PMID:19697156, PMID:19698169, PMID:19706203, PMID:19723918, PMID:19728162, PMID:19731080, PMID:19760518, PMID:19930554, PMID:20007843, PMID:20010080, PMID:20052760, PMID:20068152, PMID:20176959, PMID:20215533, PMID:20223024, PMID:20233461, PMID:20301390, PMID:20305446, PMID:20388775, PMID:20459533, PMID:20587412, PMID:20591884, PMID:20672385, PMID:20682701, PMID:20850175, PMID:20872076, PMID:20965939, PMID:21056691, PMID:21120944, PMID:21145788, PMID:21153778, PMID:21155023, PMID:21225464, PMID:21227399, PMID:21239990, PMID:21309037, PMID:21311894, PMID:21387278, PMID:21419771, PMID:21431882, PMID:21520333, PMID:21550136, PMID:21590452, PMID:21598002, PMID:21615986, PMID:21642682, PMID:21671081, PMID:21681552, PMID:21778331, PMID:21788563, PMID:21791569, PMID:21837758, PMID:21868491, PMID:21879275, PMID:21926548, PMID:22006311, PMID:22034109, PMID:22039344, PMID:22067334, PMID:22102614, PMID:22144684, PMID:22166501, PMID:22219001, PMID:22234272, PMID:22283331, PMID:22290698, PMID:22321913, PMID:22322191, PMID:22371642, PMID:22480969, PMID:22581703, PMID:22585170, PMID:22658618, PMID:22691310, PMID:22703879, PMID:22712459, PMID:22739024, PMID:22781090, PMID:22883484, PMID:22949379, PMID:22949387, PMID:22977643, PMID:22987205, PMID:22995991, PMID:23047549, PMID:23170986, PMID:23248292, PMID:23329266, PMID:23443670, PMID:23454724, PMID:23523604, PMID:23526924, PMID:23537056, PMID:23573243, PMID:23604856, PMID:23640085, PMID:23690608, PMID:23729658, PMID:23733757, PMID:23760103, PMID:23960188, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24078570, PMID:24082139, PMID:24090359, PMID:24100870, PMID:24114314, PMID:24194902, PMID:24240112, PMID:24244552, PMID:24278394, PMID:24310308, PMID:24323032, PMID:24326041, PMID:24344984, PMID:24362816, PMID:24393486, PMID:24396821, PMID:24415873, PMID:24474082, PMID:24501230, PMID:24506336, PMID:24549055, PMID:24603434, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24735542, PMID:24763289, PMID:24851142, PMID:24933000, PMID:24933100, PMID:24953332, PMID:25006859, PMID:25032700, PMID:25081409, PMID:25093288, PMID:25107687, PMID:25110875, PMID:25117502, PMID:25117503, PMID:25133505, PMID:25173403, PMID:25186627, PMID:25194673, PMID:25200962, PMID:25420488, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25569433, PMID:25637381, PMID:25639900, PMID:25648859, PMID:25701956, PMID:25712738, PMID:25741868, PMID:25782445, PMID:25871441, PMID:25872134, PMID:25964535, PMID:25980754, PMID:26053027, PMID:26076155, PMID:26094658, PMID:26096739, PMID:26182300, PMID:26202870, PMID:26247049, PMID:26248088, PMID:26250988, PMID:26270727, PMID:26289772, PMID:26300997, PMID:26332594, PMID:26333163, PMID:26344056, PMID:26381082, PMID:26437257, PMID:26446363, PMID:26467025, PMID:26485756, PMID:26517685, PMID:26528695, PMID:26552419, PMID:26556299, PMID:26580448, PMID:26635394, PMID:26659599, PMID:26659639, PMID:26681312, PMID:26689913, PMID:26718727, PMID:26824983, PMID:26845104, PMID:26866578, PMID:26878173, PMID:26898890, PMID:26900293, PMID:26951660, PMID:26976419, PMID:27007491, PMID:27013479, PMID:27016151, PMID:27064304, PMID:27153395, PMID:27273229, PMID:27284491, PMID:27287813, PMID:27328445, PMID:27443514, PMID:27449771, PMID:27468915, PMID:27556954, PMID:27600092, PMID:27601186, PMID:27606285, PMID:27628256, PMID:27629256, PMID:27720647, PMID:27978560, PMID:28050010, PMID:28125075, PMID:28127413, PMID:28135145, PMID:28152038, PMID:28195393, PMID:28202063, PMID:28349240, PMID:28422960, PMID:28445943, PMID:28449805, PMID:28491141, PMID:28492532, PMID:28494185, PMID:28514183, PMID:28526081, PMID:28537014, PMID:28577310, PMID:28580595, PMID:28640387, PMID:28687971, PMID:28724667, PMID:28767289, PMID:28769567, PMID:28785832, PMID:28790115, PMID:28828701, PMID:28874130, PMID:28932927, PMID:28944238, PMID:29020732, PMID:29050249, PMID:29164703, PMID:29192238, PMID:29212164, PMID:29238914, PMID:29333623, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29458332, PMID:29489754, PMID:29568967, PMID:29575718, PMID:29684080, PMID:29690800, PMID:29706558, PMID:29706640, PMID:29731845, PMID:29752822, PMID:29769598, PMID:29887214, PMID:29889250, PMID:29945567, PMID:30019097, PMID:30089731, PMID:30093976, PMID:30131383, PMID:30217226, PMID:30306255, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30376427, PMID:30521064, PMID:30702970, PMID:30742731, PMID:30798936, PMID:30850667, PMID:30998989, PMID:31101557, PMID:31307542, PMID:31366136, PMID:31386297, PMID:31422574, PMID:31647837, PMID:32566746, PMID:32587781, PMID:206672385 RGD:1625106 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G MSH6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer
ClinVar Annotator: match by term: Lynch syndrome
ClinVar Annotator: match by term: Familial nonpolyposis colon cancer
ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis
ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
ClinVar Annotator: match by term: Lynch syndrome I
DNA:mutations:premature translation termination
HNPCC5, DNA:deletion:exon:L222X
CTD
ClinVar
RGD
PMID:1548301, PMID:1734424, PMID:1736038, PMID:1851154, PMID:1958276, PMID:2059188, PMID:2563738, PMID:5559809, PMID:7604266, PMID:8063241, PMID:8176851, PMID:8838326, PMID:9307272, PMID:9354786, PMID:9774676, PMID:9819445, PMID:9929971, PMID:10348829, PMID:10413423, PMID:10471527, PMID:10507723, PMID:10508506, PMID:10521294, PMID:10537275, PMID:10612827, PMID:10675480, PMID:10699937, PMID:10938287, PMID:11153917, PMID:11470537, PMID:11479205, PMID:11586295, PMID:11641390, PMID:11709755, PMID:11807791, PMID:11900875, PMID:12019211, PMID:12202775, PMID:12376507, PMID:12376742, PMID:12522549, PMID:12537658, PMID:12547705, PMID:12658575, PMID:12732731, PMID:14520694, PMID:14574004, PMID:14585961, PMID:14871975, PMID:14961575, PMID:14974087, PMID:15098177, PMID:15184898, PMID:15217520, PMID:15236168, PMID:15340264, PMID:15354210, PMID:15365995, PMID:15483016, PMID:15571801, PMID:15805151, PMID:15837969, PMID:15872200, PMID:15952900, PMID:16010685, PMID:16034045, PMID:16203774, PMID:16237223, PMID:16270383, PMID:16283678, PMID:16283884, PMID:16341805, PMID:16360201, PMID:16408224, PMID:16418736, PMID:16464007, PMID:16525781, PMID:16636019, PMID:16638864, PMID:16736289, PMID:16771955, PMID:16807412, PMID:16885385, PMID:16929514, PMID:16940983, PMID:17117178, PMID:17199584, PMID:17205513, PMID:17259933, PMID:17323113, PMID:17344846, PMID:17417778, PMID:17440981, PMID:17453009, PMID:17498565, PMID:17531815, PMID:17557300, PMID:17594722, PMID:17653898, PMID:17661183, PMID:17718861, PMID:17854147, PMID:17909073, PMID:18033691, PMID:18067074, PMID:18176851, PMID:18236172, PMID:18269114, PMID:18301448, PMID:18307539, PMID:18355840, PMID:18389388, PMID:18409202, PMID:18415027, PMID:18417481, PMID:18521850, PMID:18523027, PMID:18550572, PMID:18566915, PMID:18625694, PMID:18701435, PMID:18790734, PMID:18809606, PMID:19072991, PMID:19130300, PMID:19194194, PMID:19250818, PMID:19324997, PMID:19389263, PMID:19459153, PMID:19526325, PMID:19575290, PMID:19659577, PMID:19685280, PMID:19685281, PMID:19698169, PMID:19766128, PMID:19781088, PMID:19851887, PMID:19924528, PMID:19931546, PMID:20007843, PMID:20028993, PMID:20045164, PMID:20149637, PMID:20176959, PMID:20379851, PMID:20487569, PMID:20587412, PMID:20591884, PMID:20682701, PMID:20924129, PMID:20937110, PMID:21039432, PMID:21056691, PMID:21081928, PMID:21120944, PMID:21153778, PMID:21155762, PMID:21247423, PMID:21437237, PMID:21520333, PMID:21642682, PMID:21671081, PMID:21674763, PMID:21836479, PMID:21868491, PMID:22006311, PMID:22081473, PMID:22102614, PMID:22144684, PMID:22180424, PMID:22219001, PMID:22250089, PMID:22283331, PMID:22290698, PMID:22480969, PMID:22495361, PMID:22581703, PMID:22658618, PMID:22691310, PMID:22692065, PMID:22703879, PMID:22734033, PMID:22766992, PMID:22810696, PMID:22851212, PMID:22895193, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23104009, PMID:23263490, PMID:23294250, PMID:23354634, PMID:23523604, PMID:23530095, PMID:23541221, PMID:23544471, PMID:23554159, PMID:23612316, PMID:23621914, PMID:23652311, PMID:23700467, PMID:23729658, PMID:23733757, PMID:23757202, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24055113, PMID:24068316, PMID:24072394, PMID:24073290, PMID:24100870, PMID:24244552, PMID:24278394, PMID:24323032, PMID:24362816, PMID:24393486, PMID:24425144, PMID:24440087, PMID:24448499, PMID:24689082, PMID:24710284, PMID:24728189, PMID:24728327, PMID:24737826, PMID:24763289, PMID:24933000, PMID:24933100, PMID:25006859, PMID:25081409, PMID:25093288, PMID:25110875, PMID:25111426, PMID:25117503, PMID:25133505, PMID:25142776, PMID:25186627, PMID:25194673, PMID:25224212, PMID:25231023, PMID:25307252, PMID:25318351, PMID:25318681, PMID:25370038, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25536104, PMID:25559809, PMID:25561518, PMID:25617771, PMID:25637381, PMID:25648859, PMID:25670083, PMID:25701956, PMID:25741868, PMID:25751794, PMID:25782445, PMID:25801821, PMID:25871441, PMID:25980754, PMID:25985138, PMID:26023681, PMID:26046366, PMID:26099011, PMID:26177554, PMID:26181448, PMID:26206375, PMID:26270727, PMID:26274037, PMID:26300997, PMID:26318770, PMID:26332594, PMID:26333163, PMID:26374070, PMID:26436109, PMID:26436112, PMID:26437257, PMID:26440929, PMID:26457233, PMID:26467025, PMID:26483394, PMID:26485756, PMID:26517685, PMID:26530882, PMID:26544533, PMID:26552419, PMID:26580448, PMID:26633542, PMID:26648449, PMID:26666765, PMID:26674132, PMID:26681312, PMID:26687385, PMID:26689913, PMID:26720728, PMID:26787237, PMID:26805314, PMID:26811195, PMID:26832770, PMID:26845104, PMID:26866578, PMID:26888055, PMID:26898890, PMID:26900293, PMID:26901136, PMID:26976419, PMID:27013479, PMID:27028851, PMID:27060149, PMID:27064304, PMID:27153395, PMID:27165744, PMID:27273229, PMID:27329137, PMID:27432916, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27456091, PMID:27498913, PMID:27553368, PMID:27600092, PMID:27601186, PMID:27616075, PMID:27696107, PMID:27714650, PMID:27723366, PMID:27854360, PMID:27878467, PMID:27920101, PMID:27928858, PMID:27978560, PMID:28125075, PMID:28135145, PMID:28152038, PMID:28153049, PMID:28176205, PMID:28195393, PMID:28206961, PMID:28283864, PMID:28323777, PMID:28369758, PMID:28449805, PMID:28460341, PMID:28466842, PMID:28481244, PMID:28492532, PMID:28502729, PMID:28503720, PMID:28514183, PMID:28528517, PMID:28528518, PMID:28531214, PMID:28596308, PMID:28687356, PMID:28724667, PMID:28765196, PMID:28767289, PMID:28873162, PMID:28874130, PMID:28878254, PMID:28922847, PMID:28944238, PMID:29107668, PMID:29212164, PMID:29263802, PMID:29345684, PMID:29348823, PMID:29360161, PMID:29368341, PMID:29575718, PMID:29596542, PMID:29659569, PMID:29684080, PMID:29750335, PMID:29753700, PMID:29785566, PMID:29880898, PMID:29887214, PMID:29915797, PMID:29922827, PMID:29946849, PMID:29967336, PMID:30013564, PMID:30128536, PMID:30306255, PMID:30311386, PMID:30374176, PMID:30376427, PMID:30498870, PMID:30521064, PMID:30670635, PMID:31100584, PMID:31204389, PMID:31297337, PMID:31307542, PMID:31391288, PMID:31422818, PMID:31666926, PMID:31965077, PMID:32141610, PMID:32566746, PMID:32773772 RGD:1600460, RGD:1625106 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
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 6:84,225,670...84,228,156
Ensembl chr 6:84,225,694...84,228,094
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 6:84,238,695...84,252,046
Ensembl chr 6:84,237,737...84,252,046
JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr15:94,359,784...94,377,331
Ensembl chr15:94,359,333...94,377,303
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma
ClinVar Annotator: match by term: Lynch syndrome
RGD
ClinVar
PMID:8072530, PMID:25741868 RGD:1599137 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,324...94,601,889
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer
ClinVar Annotator: match by term: Lynch syndrome
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 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G RNASEL ribonuclease L onset ISO DNA:substitution:cds:amino acid R462G RGD PMID:16054567 RGD:2292000 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,306...123,910,432
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,358
JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,083...165,124,454
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:10819637 RGD:1599900 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G STPG4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar PMID:30374176 NCBI chr 3:93,386,523...93,438,070
Ensembl chr 3:93,372,045...93,438,068
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
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 chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
G TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Lynch syndrome ClinVar NCBI chr13:21,913,400...22,023,165
Ensembl chr13:21,913,275...22,023,156
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 chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
JBrowse link
G KCNK12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Lynch syndrome I ClinVar NCBI chr 3:92,990,129...93,044,989
Ensembl chr 3:92,990,220...93,044,555
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 chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,324...94,601,889
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 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
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 chr12:40,054,175...40,072,831 JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO OMIM NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,773...25,071,862
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO OMIM NCBI chr 7:25,045,085...25,056,915 JBrowse link
G TAPBP TAP binding protein ISO OMIM NCBI chr 7:29,663,491...29,673,453
Ensembl chr 7:29,663,446...29,676,335
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 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
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 chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,026
JBrowse link
G RFX5 regulatory factor X5 ISO OMIM NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,888,460...97,913,283
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO OMIM NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,534...58,683,882
JBrowse link
G RFXAP regulatory factor X associated protein ISO OMIM NCBI chr11:12,660,306...12,695,137 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 chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
Nijmegen breakage syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DECR1 2,4-dienoyl-CoA reductase 1 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:28492532 NCBI chr 4:46,731,359...46,767,427
Ensembl chr 4:46,730,461...46,767,427
JBrowse link
G NBN nibrin ISO OMIM NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,659...46,903,999
JBrowse link
G OSGIN2 oxidative stress induced growth inhibitor family member 2 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:10792024, PMID:15048089, PMID:15758953, PMID:15964794, PMID:21035407, PMID:22864661, PMID:24894818, PMID:25741868, PMID:26315354, PMID:26467025, PMID:26681312, PMID:28492532 NCBI chr 4:46,886,961...46,912,941
Ensembl chr 4:46,885,775...46,912,255
JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD50 RAD50 double strand break repair protein ISO OMIM NCBI chr 2:134,844,460...134,939,188 JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1C DNA cross-link repair 1C ISO OMIM NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,051...46,868,030
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,565,449...24,602,590
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,546,958...24,558,430
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:54,283,315...54,285,823 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 chr 4:287,206...293,629 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 chr 2:24,547,605...24,553,944
Ensembl chr 2:24,546,958...24,558,430
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 6:89,295,164...89,318,169 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 chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 chr 4:287,206...293,629 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 chr 3:44,483,961...44,605,035
Ensembl chr 3:44,509,692...44,605,014
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 chr 4:287,206...293,629 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 chr 4:287,206...293,629 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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
JBrowse link
G AK2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chr 6:89,295,164...89,318,169 JBrowse link
G CD3D CD3d molecule ISO ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:14602880, PMID:15546002, PMID:28492532 RGD:1549420 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221
JBrowse link
G CD3E CD3e molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD
ClinVar
PMID:15546002, PMID:28492532 NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,481...45,635,379
JBrowse link
G DCLRE1C DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
RGD
ClinVar
PMID:11336668, PMID:24033266, PMID:25741868 RGD:1601049 NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,051...46,868,030
JBrowse link
G EPO erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G IL2 interleukin 2 ISO mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:57,143,568...57,151,242 JBrowse link
G IL7R interleukin 7 receptor ISO autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 DNA:point_mutation:CDS:C->T, amino acid T66I
ClinVar Annotator: match by term: Severe combined immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
RGD
ClinVar
PMID:9843216, PMID:15661025, PMID:16492442, PMID:17827065, PMID:18255337, PMID:18403192, PMID:18641513, PMID:24759676, PMID:25741868, PMID:27833609, PMID:28492532 RGD:1600151 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
JBrowse link
G JAK3 Janus kinase 3 treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD
ClinVar
RGD
PMID:9354668, PMID:9427607, PMID:9753072</