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GENE - TERM ANNOTATION REPORT

RGD ID: 737039
Species: Homo sapiens
RGD Object: Gene
Symbol: CDKN2A
Name: cyclin dependent kinase inhibitor 2A
Acc ID: DOID:0111511
Term: melanoma and neural system tumor syndrome
Definition: A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10797439 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8414022 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8635060 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CDKN2A IAGP 7240710OMIM  
CDKN2A EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:25780468 PMID:28492532 PMID:29684080 PMID:32957588 PMID:35001868
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10627132 PMID:11815963 PMID:12853981 PMID:14508519 PMID:16905682 PMID:20539244 PMID:20876876 PMID:21150883 PMID:24737347 PMID:25356972 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28726808 PMID:29263814 PMID:29922827 PMID:30113427 PMID:34028844
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:16818274 PMID:18519632 PMID:25741868 PMID:25980754 PMID:26467025 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:7718873 PMID:9166859
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:15761864 PMID:18023021 PMID:25741868 PMID:26467025
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:12454511 PMID:15146471 PMID:16905682 PMID:18983535 PMID:25356972 PMID:25741868 PMID:25877891 PMID:28492532 PMID:8668202
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma astrocytoma syndromePMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:14508519 PMID:16905682 PMID:18573309 PMID:21462282 PMID:25356972 PMID:25741868 PMID:26619011 PMID:26681309 PMID:26775776 PMID:28492532 PMID:28830827 PMID:29464027 PMID:29983899 PMID:32455486 PMID:35001868 PMID:8573142 PMID:8595405 PMID:8723678 PMID:9751050 PMID:9823374
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10398427 PMID:11518711 PMID:12072543 PMID:12606942 PMID:16307646 PMID:16896043 PMID:16905682 PMID:17047042 PMID:20340136 PMID:21462282 PMID:22841127 PMID:25741868 PMID:28492532 PMID:33050356 PMID:33766116
CDKN2A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:16234564 PMID:17218939 PMID:18335566 PMID:21462282 PMID:25741868 PMID:25780468 PMID:26225579 PMID:28492532 PMID:28873162 PMID:29641532 PMID:30291219 PMID:34069952 PMID:35001868 PMID:5001868
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:12072543 PMID:15150307 PMID:15235029 PMID:17492760 PMID:20340136 PMID:21462282 PMID:22841127 PMID:25741868 PMID:2677576 PMID:28492532 PMID:9425228 PMID:9516223
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:18573309 PMID:19571771 PMID:21085193 PMID:21462282 PMID:25741868 PMID:28492532 PMID:33945383 PMID:8552400 PMID:8710906 PMID:9053859 PMID:9823374
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25064638 PMID:25741868 PMID:26650189 PMID:26681309 PMID:28492532
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma astrocytoma syndromePMID:10491434 PMID:16234564 PMID:16896043 PMID:21462282 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:35001868 PMID:7780957 PMID:8521414 PMID:9324288
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11726555 PMID:15009729 PMID:16905682 PMID:22841127 PMID:25741868 PMID:28492532
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11075991 PMID:11518711 PMID:18983535 PMID:19260062 PMID:20340136 PMID:21462282 PMID:25741868 PMID:25780468 PMID:28492532 PMID:29661971 PMID:32482799 PMID:35001868 PMID:8710906 PMID:9425228
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10874641 PMID:12352668 PMID:15860862 PMID:18023021 PMID:19260062 PMID:21462282 PMID:23190892 PMID:25741868 PMID:26650572 PMID:26681309 PMID:28492532 PMID:29774366 PMID:7647780 PMID:7987387 PMID:8603820
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:12606942 PMID:25741868 PMID:28492532
CDKN2A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:28492532
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:28492532 PMID:8573142
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10398427 PMID:10719365 PMID:16234564 PMID:16905682 PMID:20340136 PMID:21462282 PMID:22841127 PMID:25741868 PMID:28492532 PMID:28592523 PMID:28830827
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:16234564 PMID:16896043 PMID:17167857 PMID:17992122 PMID:21462282 PMID:24659262 PMID:25741868 PMID:26223839 PMID:26775776 PMID:27267843 PMID:28492532 PMID:28830827 PMID:29661971 PMID:31382929 PMID:9856841
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:12001124 PMID:17992122 PMID:19260062 PMID:19712690 PMID:20340136 PMID:21462282 PMID:24659262 PMID:25741868 PMID:28492532 PMID:9425228
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:19500876 PMID:25741868 PMID:28492532 PMID:33436027 PMID:8880901
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:28492532 PMID:29641532
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:12517341 PMID:23190892 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35264596
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:16818274 PMID:18519632 PMID:25741868 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:7718873 PMID:9166859
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11595726 PMID:16234564 PMID:16307646 PMID:16896043 PMID:16905682 PMID:17171691 PMID:17218939 PMID:20340136 PMID:21462282 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26542317 PMID:27804060 PMID:28492532 PMID:29091774 PMID:31567591 PMID:32482799 PMID:8595405 PMID:9328469 PMID:9389568 PMID:9699728
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11571653 PMID:15856016 PMID:17440112 PMID:25741868 PMID:26467025 PMID:28492532
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10498896 PMID:11815963 PMID:15146471 PMID:18023021 PMID:18983535 PMID:19500876 PMID:21462282 PMID:22804906 PMID:25741868 PMID:26775776 PMID:27804060 PMID:28492532 PMID:29922827 PMID:30274933 PMID:30967399 PMID:35001868
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10389768 PMID:11595726 PMID:20340136 PMID:23190892 PMID:23371019 PMID:25741868 PMID:28492532 PMID:7647780 PMID:7987387 PMID:8668202
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:21462282 PMID:25741868 PMID:28492532 PMID:7796400 PMID:9132280
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:25787093 PMID:28492532
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:26918361
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11136714
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10389768 PMID:10508477 PMID:10869234 PMID:11556834 PMID:11579459 PMID:11807902 PMID:12001124 PMID:12072543 PMID:14679123 PMID:15146471 PMID:15860862 PMID:16234564 PMID:16818274 PMID:17047042 PMID:17397031 PMID:18519632 PMID:19260062 PMID:19360740 PMID:20340136 PMID:21462282 PMID:21801156 PMID:22841127 PMID:24659262 PMID:25741868 PMID:25780468 PMID:26381259 PMID:26467025 PMID:26658419 PMID:26681309 PMID:26775776 PMID:27181379 PMID:27756164 PMID:27960642 PMID:28146043 PMID:28492532 PMID:28592523 PMID:28765326 PMID:29464027 PMID:29945567 PMID:30274933 PMID:31432501 PMID:31517177 PMID:32455486 PMID:7566978 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8552158 PMID:8668202 PMID:8755727 PMID:9166859 PMID:9324288 PMID:9425228
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11595726 PMID:16234564 PMID:16307646 PMID:16896043 PMID:16905682 PMID:17171691 PMID:20340136 PMID:25356972 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32482799 PMID:8595405 PMID:8710906 PMID:9328469 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9516223 PMID:9603434 PMID:9699728
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10390011 PMID:10398427 PMID:11556834 PMID:11595726 PMID:11815963 PMID:15146471 PMID:15945100 PMID:16234564 PMID:16905682 PMID:17047042 PMID:17218939 PMID:17909018 PMID:18363633 PMID:18843795 PMID:19260062 PMID:20340136 PMID:21150883 PMID:21462282 PMID:21801156 PMID:23190892 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26206375 PMID:26225579 PMID:26775776 PMID:26845104 PMID:28492532 PMID:28873162 PMID:33050356 PMID:8570179 PMID:9425228 PMID:9516223 PMID:9699728
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10389768 PMID:11506491 PMID:11595726 PMID:15146471 PMID:16169933 PMID:16905682 PMID:18178632 PMID:18983535 PMID:20340136 PMID:21462282 PMID:21614589 PMID:22841127 PMID:23190892 PMID:23371019 PMID:25356972 PMID:25685612 PMID:25741868 PMID:26225579 PMID:26467025 PMID:28492532 PMID:29541281 PMID:35001868 PMID:7647780 PMID:7987387 PMID:7987388 PMID:8668202 PMID:9425228
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10874641 PMID:12700603 PMID:14646620 PMID:15146471 PMID:15860862 PMID:16905682 PMID:17055252 PMID:19260062 PMID:19331830 PMID:19571771 PMID:19799798 PMID:20539244 PMID:20653773 PMID:21893440 PMID:22841127 PMID:25741868 PMID:25780468 PMID:26467025 PMID:26681309 PMID:28492532 PMID:28717660 PMID:28979722 PMID:29506128 PMID:29543703 PMID:32113160 PMID:32455486 PMID:33322357 PMID:35566480 PMID:9036865 PMID:9425228 PMID:9823374
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10389768 PMID:10667595 PMID:10719365 PMID:11518711 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:27993330 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 PMID:35001868 PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9823374
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:16818274 PMID:18519632 PMID:25741868 PMID:26467025 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:35001868 PMID:7718873 PMID:9166859
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:11477665 PMID:11500805 PMID:11815963 PMID:16234564 PMID:24728327 PMID:25356972 PMID:25741868 PMID:26467025 PMID:26775776 PMID:28492532 PMID:8573142 PMID:8595405
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:25741868 PMID:26104880 PMID:28492532 PMID:30548481 PMID:35001868 PMID:35171259
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10491434 PMID:10498896 PMID:10874641 PMID:10892805 PMID:11687599 PMID:15761864 PMID:16169933 PMID:18803811 PMID:20876876 PMID:21085193 PMID:21325014 PMID:21462282 PMID:22841127 PMID:25741868 PMID:25780468 PMID:28060055 PMID:28492532 PMID:35001868
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10398427 PMID:10956390 PMID:109563903 PMID:15146471 PMID:16905682 PMID:17047042 PMID:18813118 PMID:18981015 PMID:20340136 PMID:21614589 PMID:22636603 PMID:23897584 PMID:25227142 PMID:25741868 PMID:28492532 PMID:7640518 PMID:9823374
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10738302 PMID:16397522 PMID:16896043 PMID:17713569 PMID:18025365 PMID:18337833 PMID:19523171 PMID:20093296 PMID:25023876 PMID:25741868 PMID:25780468 PMID:26467025 PMID:26581427 PMID:26681309 PMID:26775776 PMID:28492532 PMID:29263814 PMID:31567591 PMID:7881419 PMID:8570179 PMID:8653684 PMID:8727306 PMID:9916806
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10951521 PMID:15146471 PMID:15863662 PMID:16818274 PMID:18519632 PMID:21085193 PMID:21462282 PMID:24185512 PMID:25186627 PMID:25741868 PMID:26467025 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:28830827 PMID:28944238 PMID:29684080 PMID:30038052 PMID:30039340 PMID:35001868 PMID:7718873 PMID:9166859
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:10498896 PMID:10922411 PMID:11156381 PMID:11319798 PMID:12072543 PMID:15146471 PMID:16905682 PMID:17047042 PMID:20526219 PMID:24935963 PMID:25741868 PMID:25803691 PMID:25813228 PMID:27287845 PMID:28492532 PMID:30291219 PMID:8213823 PMID:865368 PMID:8653684
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:16818274 PMID:17047042 PMID:18519632 PMID:19260062 PMID:19484507 PMID:20340136 PMID:21325014 PMID:21462282 PMID:24660985 PMID:25741868 PMID:25780468 PMID:25980754 PMID:26104880 PMID:27756164 PMID:27960642 PMID:28135145 PMID:28440912 PMID:28492532 PMID:28765326 PMID:30303537 PMID:30709382 PMID:33753322 PMID:35001868 PMID:7718873 PMID:9166859 PMID:9425228 PMID:9751050
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Melanoma and neural system tumor syndromePMID:18023021 PMID:21462282 PMID:22447455 PMID:25741868 PMID:25980754 PMID:26467025 PMID:28492532 PMID:29316957
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