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http://identifiers.org/hgnc/12441 | TYMS | thymidylate synthetase | http://identifiers.org/ncbigene/7298 | http://identifiers.org/ensembl/ENSG00000176890 | http://identifiers.org/uniprot/P04818 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2642 | http://identifiers.org/kegg.genes/hsa:7298 | https://omim.org/entry/188350 | http://www.orpha.net/ORDO/Orphanet_241969 | 18p11.32 |
http://identifiers.org/hgnc/7765 | NF1 | neurofibromin 1 | http://identifiers.org/ncbigene/4763 | http://identifiers.org/ensembl/ENSG00000196712 | http://identifiers.org/uniprot/P21359 | null | http://identifiers.org/kegg.genes/hsa:4763 | https://omim.org/entry/613113 | http://www.orpha.net/ORDO/Orphanet_123772 | 17q11.2 |
http://identifiers.org/hgnc/7773 | NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | http://identifiers.org/ncbigene/4771 | http://identifiers.org/ensembl/ENSG00000186575 | http://identifiers.org/uniprot/P35240 | null | http://identifiers.org/kegg.genes/hsa:4771 | https://omim.org/entry/607379 | http://www.orpha.net/ORDO/Orphanet_123774 | 22q12.2 |
http://identifiers.org/hgnc/30064 | PBRM1 | polybromo 1 | http://identifiers.org/ncbigene/55193 | http://identifiers.org/ensembl/ENSG00000163939 | http://identifiers.org/uniprot/Q86U86 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2738 | http://identifiers.org/kegg.genes/hsa:55193 | https://omim.org/entry/606083 | http://www.orpha.net/ORDO/Orphanet_434716 | 3p21.1 |
http://identifiers.org/hgnc/9588 | PTEN | phosphatase and tensin homolog | http://identifiers.org/ncbigene/5728 | http://identifiers.org/ensembl/ENSG00000171862 | http://identifiers.org/uniprot/P60484 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2497 | http://identifiers.org/kegg.genes/hsa:5728 | https://omim.org/entry/601728 | http://www.orpha.net/ORDO/Orphanet_118128 | 10q23.31 |
http://identifiers.org/hgnc/11998 | TP53 | tumor protein p53 | http://identifiers.org/ncbigene/7157 | http://identifiers.org/ensembl/ENSG00000141510 | http://identifiers.org/uniprot/P04637 | null | http://identifiers.org/kegg.genes/hsa:7157 | https://omim.org/entry/191170 | http://www.orpha.net/ORDO/Orphanet_120204 | 17p13.1 |
http://identifiers.org/hgnc/11999 | TP53BP1 | tumor protein p53 binding protein 1 | http://identifiers.org/ncbigene/7158 | http://identifiers.org/ensembl/ENSG00000067369 | http://identifiers.org/uniprot/Q12888 | null | http://identifiers.org/kegg.genes/hsa:7158 | https://omim.org/entry/605230 | http://www.orpha.net/ORDO/Orphanet_ | 15q15.3 |
http://identifiers.org/hgnc/25009 | UBE2T | ubiquitin conjugating enzyme E2 T | http://identifiers.org/ncbigene/29089 | http://identifiers.org/ensembl/ENSG00000077152 | http://identifiers.org/uniprot/Q9NPD8 | null | http://identifiers.org/kegg.genes/hsa:29089 | https://omim.org/entry/610538 | http://www.orpha.net/ORDO/Orphanet_432157 | 1q32.1 |
http://identifiers.org/hgnc/1748 | CDH1 | cadherin 1 | http://identifiers.org/ncbigene/999 | http://identifiers.org/ensembl/ENSG00000039068 | http://identifiers.org/uniprot/P12830 | null | http://identifiers.org/kegg.genes/hsa:999 | https://omim.org/entry/192090 | http://www.orpha.net/ORDO/Orphanet_119276 | 16q22.1 |
http://identifiers.org/hgnc/20473 | BRIP1 | BRCA1 interacting DNA helicase 1 | http://identifiers.org/ncbigene/83990 | http://identifiers.org/ensembl/ENSG00000136492 | http://identifiers.org/uniprot/Q9BX63 | null | http://identifiers.org/kegg.genes/hsa:83990 | https://omim.org/entry/605882 | http://www.orpha.net/ORDO/Orphanet_119080 | 17q23.2 |
http://identifiers.org/hgnc/12687 | VHL | von Hippel-Lindau tumor suppressor | http://identifiers.org/ncbigene/7428 | http://identifiers.org/ensembl/ENSG00000134086 | http://identifiers.org/uniprot/P40337 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3204 | http://identifiers.org/kegg.genes/hsa:7428 | https://omim.org/entry/608537 | http://www.orpha.net/ORDO/Orphanet_120467 | 3p25.3 |
http://identifiers.org/hgnc/25628 | DDX19A | DEAD-box helicase 19A | http://identifiers.org/ncbigene/55308 | http://identifiers.org/ensembl/ENSG00000168872 | http://identifiers.org/uniprot/Q9NUU7 | null | http://identifiers.org/kegg.genes/hsa:55308 | https://omim.org/entry/ | http://www.orpha.net/ORDO/Orphanet_ | 16q22.1 |
http://identifiers.org/hgnc/9884 | RB1 | RB transcriptional corepressor 1 | http://identifiers.org/ncbigene/5925 | http://identifiers.org/ensembl/ENSG00000139687 | http://identifiers.org/uniprot/P06400 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=5253 | http://identifiers.org/kegg.genes/hsa:5925 | https://omim.org/entry/614041 | http://www.orpha.net/ORDO/Orphanet_118239 | 13q14.2 |
http://identifiers.org/hgnc/17485 | PPP2R3C | protein phosphatase 2 regulatory subunit B''gamma | http://identifiers.org/ncbigene/55012 | http://identifiers.org/ensembl/ENSG00000092020 | http://identifiers.org/uniprot/Q969Q6 | null | http://identifiers.org/kegg.genes/hsa:55012 | https://omim.org/entry/615902 | http://www.orpha.net/ORDO/Orphanet_ | 14q13.2 |
http://identifiers.org/hgnc/16209 | RPRD1B | regulation of nuclear pre-mRNA domain containing 1B | http://identifiers.org/ncbigene/58490 | http://identifiers.org/ensembl/ENSG00000101413 | http://identifiers.org/uniprot/Q9NQG5 | null | http://identifiers.org/kegg.genes/hsa:58490 | https://omim.org/entry/614694 | http://www.orpha.net/ORDO/Orphanet_ | 20q11.23 |
http://identifiers.org/hgnc/3581 | BPTF | bromodomain PHD finger transcription factor | http://identifiers.org/ncbigene/2186 | http://identifiers.org/ensembl/ENSG00000171634 | http://identifiers.org/uniprot/Q12830 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2723 | http://identifiers.org/kegg.genes/hsa:2186 | https://omim.org/entry/601819 | http://www.orpha.net/ORDO/Orphanet_ | 17q24.2 |
http://identifiers.org/hgnc/23177 | KEAP1 | kelch like ECH associated protein 1 | http://identifiers.org/ncbigene/9817 | http://identifiers.org/ensembl/ENSG00000079999 | http://identifiers.org/uniprot/Q14145 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2757 | http://identifiers.org/kegg.genes/hsa:9817 | https://omim.org/entry/606016 | http://www.orpha.net/ORDO/Orphanet_ | 19p13.2 |
http://identifiers.org/hgnc/3582 | FANCA | FA complementation group A | http://identifiers.org/ncbigene/2175 | http://identifiers.org/ensembl/ENSG00000187741 | http://identifiers.org/uniprot/O15360 | null | http://identifiers.org/kegg.genes/hsa:2175 | https://omim.org/entry/607139 | http://www.orpha.net/ORDO/Orphanet_121693 | 16q24.3 |
http://identifiers.org/hgnc/3585 | FANCD2 | FA complementation group D2 | http://identifiers.org/ncbigene/2177 | http://identifiers.org/ensembl/ENSG00000144554 | http://identifiers.org/uniprot/Q9BXW9 | null | http://identifiers.org/kegg.genes/hsa:2177 | https://omim.org/entry/613984 | http://www.orpha.net/ORDO/Orphanet_121709 | 3p25.3 |
http://identifiers.org/hgnc/3587 | FANCF | FA complementation group F | http://identifiers.org/ncbigene/2188 | http://identifiers.org/ensembl/ENSG00000183161 | http://identifiers.org/uniprot/Q9NPI8 | null | http://identifiers.org/kegg.genes/hsa:2188 | https://omim.org/entry/613897 | http://www.orpha.net/ORDO/Orphanet_121719 | 11p14.3 |
http://identifiers.org/hgnc/21484 | MCM9 | minichromosome maintenance 9 homologous recombination repair factor | http://identifiers.org/ncbigene/254394 | http://identifiers.org/ensembl/ENSG00000111877 | http://identifiers.org/uniprot/Q9NXL9 | null | http://identifiers.org/kegg.genes/hsa:254394 | https://omim.org/entry/610098 | http://www.orpha.net/ORDO/Orphanet_448630 | 6q22.31 |
http://identifiers.org/hgnc/10681 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | http://identifiers.org/ncbigene/6390 | http://identifiers.org/ensembl/ENSG00000117118 | http://identifiers.org/uniprot/P21912 | null | http://identifiers.org/kegg.genes/hsa:6390 | https://omim.org/entry/185470 | http://www.orpha.net/ORDO/Orphanet_118554 | 1p36.13 |
http://identifiers.org/hgnc/950 | BAP1 | BRCA1 associated deubiquitinase 1 | http://identifiers.org/ncbigene/8314 | http://identifiers.org/ensembl/ENSG00000163930 | http://identifiers.org/uniprot/Q92560 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2332 | http://identifiers.org/kegg.genes/hsa:8314 | https://omim.org/entry/603089 | http://www.orpha.net/ORDO/Orphanet_289543 | 3p21.1 |
http://identifiers.org/hgnc/20294 | USPL1 | ubiquitin specific peptidase like 1 | http://identifiers.org/ncbigene/10208 | http://identifiers.org/ensembl/ENSG00000132952 | http://identifiers.org/uniprot/Q5W0Q7 | null | http://identifiers.org/kegg.genes/hsa:10208 | https://omim.org/entry/617470 | http://www.orpha.net/ORDO/Orphanet_ | 13q12.3 |
http://identifiers.org/hgnc/22408 | ATG9A | autophagy related 9A | http://identifiers.org/ncbigene/79065 | http://identifiers.org/ensembl/ENSG00000198925 | http://identifiers.org/uniprot/Q7Z3C6 | null | http://identifiers.org/kegg.genes/hsa:79065 | https://omim.org/entry/612204 | http://www.orpha.net/ORDO/Orphanet_ | 2q35 |
http://identifiers.org/hgnc/25223 | COQ2 | coenzyme Q2, polyprenyltransferase | http://identifiers.org/ncbigene/27235 | http://identifiers.org/ensembl/ENSG00000173085 | http://identifiers.org/uniprot/Q96H96 | null | http://identifiers.org/kegg.genes/hsa:27235 | https://omim.org/entry/609825 | http://www.orpha.net/ORDO/Orphanet_120770 | 4q21.23 |
http://identifiers.org/hgnc/25682 | FAM106A | family with sequence similarity 106 member A | http://identifiers.org/ncbigene/80039 | http://identifiers.org/ensembl/ENSG00000273018 | http://identifiers.org/uniprot/Q4KMX7 | null | http://identifiers.org/kegg.genes/hsa:80039 | https://omim.org/entry/ | http://www.orpha.net/ORDO/Orphanet_ | 17p11.2 |
http://identifiers.org/hgnc/13607 | FBXW11 | F-box and WD repeat domain containing 11 | http://identifiers.org/ncbigene/23291 | http://identifiers.org/ensembl/ENSG00000072803 | http://identifiers.org/uniprot/Q9UKB1 | null | http://identifiers.org/kegg.genes/hsa:23291 | https://omim.org/entry/605651 | http://www.orpha.net/ORDO/Orphanet_ | 5q35.1 |
http://identifiers.org/hgnc/7705 | NDUFC1 | NADH:ubiquinone oxidoreductase subunit C1 | http://identifiers.org/ncbigene/4717 | http://identifiers.org/ensembl/ENSG00000109390 | http://identifiers.org/uniprot/O43677 | null | http://identifiers.org/kegg.genes/hsa:4717 | https://omim.org/entry/603844 | http://www.orpha.net/ORDO/Orphanet_470758 | 4q31.1 |
http://identifiers.org/hgnc/9141 | PMVK | phosphomevalonate kinase | http://identifiers.org/ncbigene/10654 | http://identifiers.org/ensembl/ENSG00000163344 | http://identifiers.org/uniprot/Q15126 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=641 | http://identifiers.org/kegg.genes/hsa:10654 | https://omim.org/entry/607622 | http://www.orpha.net/ORDO/Orphanet_444563 | 1q21.3 |
http://identifiers.org/hgnc/9352 | PRDX1 | peroxiredoxin 1 | http://identifiers.org/ncbigene/5052 | http://identifiers.org/ensembl/ENSG00000117450 | http://identifiers.org/uniprot/Q06830 | null | http://identifiers.org/kegg.genes/hsa:5052 | https://omim.org/entry/176763 | http://www.orpha.net/ORDO/Orphanet_ | 1p34.1 |
http://identifiers.org/hgnc/9438 | PRKRA | protein activator of interferon induced protein kinase EIF2AK2 | http://identifiers.org/ncbigene/8575 | http://identifiers.org/ensembl/ENSG00000180228 | http://identifiers.org/uniprot/O75569 | null | http://identifiers.org/kegg.genes/hsa:8575 | https://omim.org/entry/603424 | http://www.orpha.net/ORDO/Orphanet_213048 | 2q31.2 |
http://identifiers.org/hgnc/29681 | SLC25A33 | solute carrier family 25 member 33 | http://identifiers.org/ncbigene/84275 | http://identifiers.org/ensembl/ENSG00000171612 | http://identifiers.org/uniprot/Q9BSK2 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1084 | http://identifiers.org/kegg.genes/hsa:84275 | https://omim.org/entry/610816 | http://www.orpha.net/ORDO/Orphanet_ | 1p36.22 |
http://identifiers.org/hgnc/30298 | UIMC1 | ubiquitin interaction motif containing 1 | http://identifiers.org/ncbigene/51720 | http://identifiers.org/ensembl/ENSG00000087206 | http://identifiers.org/uniprot/Q96RL1 | null | http://identifiers.org/kegg.genes/hsa:51720 | https://omim.org/entry/609433 | http://www.orpha.net/ORDO/Orphanet_ | 5q35.2 |
http://identifiers.org/hgnc/12563 | UMPS | uridine monophosphate synthetase | http://identifiers.org/ncbigene/7372 | http://identifiers.org/ensembl/ENSG00000114491 | http://identifiers.org/uniprot/P11172 | null | http://identifiers.org/kegg.genes/hsa:7372 | https://omim.org/entry/613891 | http://www.orpha.net/ORDO/Orphanet_120414 | 3q21.2 |
http://identifiers.org/hgnc/18037 | ARID2 | AT-rich interaction domain 2 | http://identifiers.org/ncbigene/196528 | http://identifiers.org/ensembl/ENSG00000189079 | http://identifiers.org/uniprot/Q68CP9 | null | http://identifiers.org/kegg.genes/hsa:196528 | https://omim.org/entry/609539 | http://www.orpha.net/ORDO/Orphanet_469962 | 12q12 |
http://identifiers.org/hgnc/13516 | BIRC6 | baculoviral IAP repeat containing 6 | http://identifiers.org/ncbigene/57448 | http://identifiers.org/ensembl/ENSG00000115760 | http://identifiers.org/uniprot/Q9NR09 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2796 | http://identifiers.org/kegg.genes/hsa:57448 | https://omim.org/entry/605638 | http://www.orpha.net/ORDO/Orphanet_ | 2p22.3 |
http://identifiers.org/hgnc/1148 | BUB1 | BUB1 mitotic checkpoint serine/threonine kinase | http://identifiers.org/ncbigene/699 | http://identifiers.org/ensembl/ENSG00000169679 | http://identifiers.org/uniprot/O43683 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1949 | http://identifiers.org/kegg.genes/hsa:699 | https://omim.org/entry/602452 | http://www.orpha.net/ORDO/Orphanet_367084 | 2q13 |
http://identifiers.org/hgnc/18380 | BZW1 | basic leucine zipper and W2 domains 1 | http://identifiers.org/ncbigene/9689 | http://identifiers.org/ensembl/ENSG00000082153 | http://identifiers.org/uniprot/Q7L1Q6 | null | http://identifiers.org/kegg.genes/hsa:9689 | https://omim.org/entry/619252 | http://www.orpha.net/ORDO/Orphanet_ | 2q33.1 |
http://identifiers.org/hgnc/20292 | CAB39 | calcium binding protein 39 | http://identifiers.org/ncbigene/51719 | http://identifiers.org/ensembl/ENSG00000135932 | http://identifiers.org/uniprot/Q9Y376 | null | http://identifiers.org/kegg.genes/hsa:51719 | https://omim.org/entry/612174 | http://www.orpha.net/ORDO/Orphanet_ | 2q37.1 |
http://identifiers.org/hgnc/6743 | CAPRIN1 | cell cycle associated protein 1 | http://identifiers.org/ncbigene/4076 | http://identifiers.org/ensembl/ENSG00000135387 | http://identifiers.org/uniprot/Q14444 | null | http://identifiers.org/kegg.genes/hsa:4076 | https://omim.org/entry/601178 | http://www.orpha.net/ORDO/Orphanet_ | 11p13 |
http://identifiers.org/hgnc/25675 | CHMP6 | charged multivesicular body protein 6 | http://identifiers.org/ncbigene/79643 | http://identifiers.org/ensembl/ENSG00000176108 | http://identifiers.org/uniprot/Q96FZ7 | null | http://identifiers.org/kegg.genes/hsa:79643 | https://omim.org/entry/610901 | http://www.orpha.net/ORDO/Orphanet_ | 17q25.3 |
http://identifiers.org/hgnc/19701 | CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | http://identifiers.org/ncbigene/22866 | http://identifiers.org/ensembl/ENSG00000149970 | http://identifiers.org/uniprot/Q8WXI2 | null | http://identifiers.org/kegg.genes/hsa:22866 | https://omim.org/entry/300724 | http://www.orpha.net/ORDO/Orphanet_449961 | Xp22.12 |
http://identifiers.org/hgnc/7880 | CNOT4 | CCR4-NOT transcription complex subunit 4 | http://identifiers.org/ncbigene/4850 | http://identifiers.org/ensembl/ENSG00000080802 | http://identifiers.org/uniprot/O95628 | null | http://identifiers.org/kegg.genes/hsa:4850 | https://omim.org/entry/604911 | http://www.orpha.net/ORDO/Orphanet_ | 7q33 |
http://identifiers.org/hgnc/2495 | CTBP2 | C-terminal binding protein 2 | http://identifiers.org/ncbigene/1488 | http://identifiers.org/ensembl/ENSG00000175029 | http://identifiers.org/uniprot/P56545 | null | http://identifiers.org/kegg.genes/hsa:1488 | https://omim.org/entry/602619 | http://www.orpha.net/ORDO/Orphanet_ | 10q26.13 |
http://identifiers.org/hgnc/2867 | DHODH | dihydroorotate dehydrogenase (quinone) | http://identifiers.org/ncbigene/1723 | http://identifiers.org/ensembl/ENSG00000102967 | http://identifiers.org/uniprot/Q02127 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2604 | http://identifiers.org/kegg.genes/hsa:1723 | https://omim.org/entry/126064 | http://www.orpha.net/ORDO/Orphanet_225386 | 16q22.2 |
http://identifiers.org/hgnc/15861 | DHX35 | DEAH-box helicase 35 | http://identifiers.org/ncbigene/60625 | http://identifiers.org/ensembl/ENSG00000101452 | http://identifiers.org/uniprot/Q9H5Z1 | null | http://identifiers.org/kegg.genes/hsa:60625 | https://omim.org/entry/ | http://www.orpha.net/ORDO/Orphanet_ | 20q11.23-q12 |
http://identifiers.org/hgnc/15531 | EBNA1BP2 | EBNA1 binding protein 2 | http://identifiers.org/ncbigene/10969 | http://identifiers.org/ensembl/ENSG00000117395 | http://identifiers.org/uniprot/Q99848 | null | http://identifiers.org/kegg.genes/hsa:10969 | https://omim.org/entry/614443 | http://www.orpha.net/ORDO/Orphanet_ | 1p34.2 |
http://identifiers.org/hgnc/17233 | ELMO2 | engulfment and cell motility 2 | http://identifiers.org/ncbigene/63916 | http://identifiers.org/ensembl/ENSG00000062598 | http://identifiers.org/uniprot/Q96JJ3 | null | http://identifiers.org/kegg.genes/hsa:63916 | https://omim.org/entry/606421 | http://www.orpha.net/ORDO/Orphanet_465978 | 20q13.12 |
http://identifiers.org/hgnc/29249 | FBXO42 | F-box protein 42 | http://identifiers.org/ncbigene/54455 | http://identifiers.org/ensembl/ENSG00000037637 | http://identifiers.org/uniprot/Q6P3S6 | null | http://identifiers.org/kegg.genes/hsa:54455 | https://omim.org/entry/609109 | http://www.orpha.net/ORDO/Orphanet_ | 1p36.13 |
http://identifiers.org/hgnc/4113 | GAK | cyclin G associated kinase | http://identifiers.org/ncbigene/2580 | http://identifiers.org/ensembl/ENSG00000178950 | http://identifiers.org/uniprot/O14976 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2027 | http://identifiers.org/kegg.genes/hsa:2580 | https://omim.org/entry/602052 | http://www.orpha.net/ORDO/Orphanet_ | 4p16.3 |
http://identifiers.org/hgnc/4163 | GART | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | http://identifiers.org/ncbigene/2618 | http://identifiers.org/ensembl/ENSG00000159131 | http://identifiers.org/uniprot/P22102 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2612 | http://identifiers.org/kegg.genes/hsa:2618 | https://omim.org/entry/138440 | http://www.orpha.net/ORDO/Orphanet_ | 21q22.11 |
http://identifiers.org/hgnc/4670 | GTPBP2 | GTP binding protein 2 | http://identifiers.org/ncbigene/54676 | http://identifiers.org/ensembl/ENSG00000172432 | http://identifiers.org/uniprot/Q9BX10 | null | http://identifiers.org/kegg.genes/hsa:54676 | https://omim.org/entry/607434 | http://www.orpha.net/ORDO/Orphanet_ | 6p21.1 |
http://identifiers.org/hgnc/5468 | IGFALS | insulin like growth factor binding protein acid labile subunit | http://identifiers.org/ncbigene/3483 | http://identifiers.org/ensembl/ENSG00000099769 | http://identifiers.org/uniprot/P35858 | null | http://identifiers.org/kegg.genes/hsa:3483 | https://omim.org/entry/601489 | http://www.orpha.net/ORDO/Orphanet_159982 | 16p13.3 |
http://identifiers.org/hgnc/5961 | IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | http://identifiers.org/ncbigene/8517 | http://identifiers.org/ensembl/ENSG00000269335 | http://identifiers.org/uniprot/Q9Y6K9 | null | http://identifiers.org/kegg.genes/hsa:8517 | https://omim.org/entry/300248 | http://www.orpha.net/ORDO/Orphanet_122614 | Xq28 |
http://identifiers.org/hgnc/6201 | JTB | jumping translocation breakpoint | http://identifiers.org/ncbigene/10899 | http://identifiers.org/ensembl/ENSG00000143543 | http://identifiers.org/uniprot/O76095 | null | http://identifiers.org/kegg.genes/hsa:10899 | https://omim.org/entry/604671 | http://www.orpha.net/ORDO/Orphanet_ | 1q21.3 |
http://identifiers.org/hgnc/6397 | KPNA4 | karyopherin subunit alpha 4 | http://identifiers.org/ncbigene/3840 | http://identifiers.org/ensembl/ENSG00000186432 | http://identifiers.org/uniprot/O00629 | null | http://identifiers.org/kegg.genes/hsa:3840 | https://omim.org/entry/602970 | http://www.orpha.net/ORDO/Orphanet_ | 3q25.33 |
http://identifiers.org/hgnc/18752 | MAPKAP1 | MAPK associated protein 1 | http://identifiers.org/ncbigene/79109 | http://identifiers.org/ensembl/ENSG00000119487 | http://identifiers.org/uniprot/Q9BPZ7 | null | http://identifiers.org/kegg.genes/hsa:79109 | https://omim.org/entry/610558 | http://www.orpha.net/ORDO/Orphanet_ | 9q33.3 |
http://identifiers.org/hgnc/22474 | MED13 | mediator complex subunit 13 | http://identifiers.org/ncbigene/9969 | http://identifiers.org/ensembl/ENSG00000108510 | http://identifiers.org/uniprot/Q9UHV7 | null | http://identifiers.org/kegg.genes/hsa:9969 | https://omim.org/entry/603808 | http://www.orpha.net/ORDO/Orphanet_ | 17q23.2 |
http://identifiers.org/hgnc/7224 | MPV17 | mitochondrial inner membrane protein MPV17 | http://identifiers.org/ncbigene/4358 | http://identifiers.org/ensembl/ENSG00000115204 | http://identifiers.org/uniprot/P39210 | null | http://identifiers.org/kegg.genes/hsa:4358 | https://omim.org/entry/137960 | http://www.orpha.net/ORDO/Orphanet_123470 | 2p23.3 |
http://identifiers.org/hgnc/29666 | MTFMT | mitochondrial methionyl-tRNA formyltransferase | http://identifiers.org/ncbigene/123263 | http://identifiers.org/ensembl/ENSG00000103707 | http://identifiers.org/uniprot/Q96DP5 | null | http://identifiers.org/kegg.genes/hsa:123263 | https://omim.org/entry/611766 | http://www.orpha.net/ORDO/Orphanet_299657 | 15q22.31 |
http://identifiers.org/hgnc/7701 | NDUFB6 | NADH:ubiquinone oxidoreductase subunit B6 | http://identifiers.org/ncbigene/4712 | http://identifiers.org/ensembl/ENSG00000165264 | http://identifiers.org/uniprot/O95139 | null | http://identifiers.org/kegg.genes/hsa:4712 | https://omim.org/entry/603322 | http://www.orpha.net/ORDO/Orphanet_470752 | 9p21.1 |
http://identifiers.org/hgnc/18017 | NUP160 | nucleoporin 160 | http://identifiers.org/ncbigene/23279 | http://identifiers.org/ensembl/ENSG00000030066 | http://identifiers.org/uniprot/Q12769 | null | http://identifiers.org/kegg.genes/hsa:23279 | https://omim.org/entry/607614 | http://www.orpha.net/ORDO/Orphanet_ | 11p11.2 |
http://identifiers.org/hgnc/16245 | PARD6B | par-6 family cell polarity regulator beta | http://identifiers.org/ncbigene/84612 | http://identifiers.org/ensembl/ENSG00000124171 | http://identifiers.org/uniprot/Q9BYG5 | null | http://identifiers.org/kegg.genes/hsa:84612 | https://omim.org/entry/608975 | http://www.orpha.net/ORDO/Orphanet_ | 20q13.13 |
http://identifiers.org/hgnc/4606 | PDIA3 | protein disulfide isomerase family A member 3 | http://identifiers.org/ncbigene/2923 | http://identifiers.org/ensembl/ENSG00000167004 | http://identifiers.org/uniprot/P30101 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3293 | http://identifiers.org/kegg.genes/hsa:2923 | https://omim.org/entry/602046 | http://www.orpha.net/ORDO/Orphanet_ | 15q15.3 |
http://identifiers.org/hgnc/29088 | PDS5A | PDS5 cohesin associated factor A | http://identifiers.org/ncbigene/23244 | http://identifiers.org/ensembl/ENSG00000121892 | http://identifiers.org/uniprot/Q29RF7 | null | http://identifiers.org/kegg.genes/hsa:23244 | https://omim.org/entry/613200 | http://www.orpha.net/ORDO/Orphanet_470848 | 4p14 |
http://identifiers.org/hgnc/8988 | PIN1 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1 | http://identifiers.org/ncbigene/5300 | http://identifiers.org/ensembl/ENSG00000127445 | http://identifiers.org/uniprot/Q13526 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3171 | http://identifiers.org/kegg.genes/hsa:5300 | https://omim.org/entry/601052 | http://www.orpha.net/ORDO/Orphanet_ | 19p13 |
http://identifiers.org/hgnc/9571 | PSMF1 | proteasome inhibitor subunit 1 | http://identifiers.org/ncbigene/9491 | http://identifiers.org/ensembl/ENSG00000125818 | http://identifiers.org/uniprot/Q92530 | null | http://identifiers.org/kegg.genes/hsa:9491 | https://omim.org/entry/617858 | http://www.orpha.net/ORDO/Orphanet_ | 20p13 |
http://identifiers.org/hgnc/9826 | RAD54L | RAD54 like | http://identifiers.org/ncbigene/8438 | http://identifiers.org/ensembl/ENSG00000085999 | http://identifiers.org/uniprot/Q92698 | null | http://identifiers.org/kegg.genes/hsa:8438 | https://omim.org/entry/603615 | http://www.orpha.net/ORDO/Orphanet_437664 | 1p34.1 |
http://identifiers.org/hgnc/28349 | RMI2 | RecQ mediated genome instability 2 | http://identifiers.org/ncbigene/116028 | http://identifiers.org/ensembl/ENSG00000175643 | http://identifiers.org/uniprot/Q96E14 | null | http://identifiers.org/kegg.genes/hsa:116028 | https://omim.org/entry/612426 | http://www.orpha.net/ORDO/Orphanet_ | 16p13.13 |
http://identifiers.org/hgnc/17271 | RRAS2 | RAS related 2 | http://identifiers.org/ncbigene/22800 | http://identifiers.org/ensembl/ENSG00000133818 | http://identifiers.org/uniprot/P62070 | null | http://identifiers.org/kegg.genes/hsa:22800 | https://omim.org/entry/600098 | http://www.orpha.net/ORDO/Orphanet_ | 11p15.2 |
http://identifiers.org/hgnc/10683 | SDHD | succinate dehydrogenase complex subunit D | http://identifiers.org/ncbigene/6392 | http://identifiers.org/ensembl/ENSG00000204370 | http://identifiers.org/uniprot/O14521 | null | http://identifiers.org/kegg.genes/hsa:6392 | https://omim.org/entry/602690 | http://www.orpha.net/ORDO/Orphanet_118561 | 11q23.1 |
http://identifiers.org/hgnc/10839 | SHBG | sex hormone binding globulin | http://identifiers.org/ncbigene/6462 | http://identifiers.org/ensembl/ENSG00000129214 | http://identifiers.org/uniprot/P04278 | null | http://identifiers.org/kegg.genes/hsa:6462 | https://omim.org/entry/182205 | http://www.orpha.net/ORDO/Orphanet_ | 17p13.1 |
http://identifiers.org/hgnc/23990 | STAC2 | SH3 and cysteine rich domain 2 | http://identifiers.org/ncbigene/342667 | http://identifiers.org/ensembl/ENSG00000141750 | http://identifiers.org/uniprot/Q6ZMT1 | null | http://identifiers.org/kegg.genes/hsa:342667 | https://omim.org/entry/ | http://www.orpha.net/ORDO/Orphanet_ | 17q12 |
http://identifiers.org/hgnc/11427 | STUB1 | STIP1 homology and U-box containing protein 1 | http://identifiers.org/ncbigene/10273 | http://identifiers.org/ensembl/ENSG00000103266 | http://identifiers.org/uniprot/Q9UNE7 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3202 | http://identifiers.org/kegg.genes/hsa:10273 | https://omim.org/entry/607207 | http://www.orpha.net/ORDO/Orphanet_395106 | 16p13.3 |
http://identifiers.org/hgnc/30631 | TADA1 | transcriptional adaptor 1 | http://identifiers.org/ncbigene/117143 | http://identifiers.org/ensembl/ENSG00000152382 | http://identifiers.org/uniprot/Q96BN2 | null | http://identifiers.org/kegg.genes/hsa:117143 | https://omim.org/entry/612763 | http://www.orpha.net/ORDO/Orphanet_ | 1q24.1 |
http://identifiers.org/hgnc/28814 | TMCO6 | transmembrane and coiled-coil domains 6 | http://identifiers.org/ncbigene/55374 | http://identifiers.org/ensembl/ENSG00000113119 | http://identifiers.org/uniprot/Q96DC7 | null | http://identifiers.org/kegg.genes/hsa:55374 | https://omim.org/entry/ | http://www.orpha.net/ORDO/Orphanet_ | 5q31.3 |
http://identifiers.org/hgnc/30536 | DMAC1 | distal membrane arm assembly component 1 | http://identifiers.org/ncbigene/90871 | http://identifiers.org/ensembl/ENSG00000137038 | http://identifiers.org/uniprot/Q96GE9 | null | http://identifiers.org/kegg.genes/hsa:90871 | https://omim.org/entry/617261 | http://www.orpha.net/ORDO/Orphanet_ | 9p24.1 |
http://identifiers.org/hgnc/25981 | TOR4A | torsin family 4 member A | http://identifiers.org/ncbigene/54863 | http://identifiers.org/ensembl/ENSG00000198113 | http://identifiers.org/uniprot/Q9NXH8 | null | http://identifiers.org/kegg.genes/hsa:54863 | https://omim.org/entry/ | http://www.orpha.net/ORDO/Orphanet_ | 9q34.3 |
http://identifiers.org/hgnc/17034 | TUSC2 | tumor suppressor 2, mitochondrial calcium regulator | http://identifiers.org/ncbigene/11334 | http://identifiers.org/ensembl/ENSG00000114383 | http://identifiers.org/uniprot/O75896 | null | http://identifiers.org/kegg.genes/hsa:11334 | https://omim.org/entry/607052 | http://www.orpha.net/ORDO/Orphanet_ | 3p21.31 |
http://identifiers.org/hgnc/23147 | UNC13D | unc-13 homolog D | http://identifiers.org/ncbigene/201294 | http://identifiers.org/ensembl/ENSG00000092929 | http://identifiers.org/uniprot/Q70J99 | null | http://identifiers.org/kegg.genes/hsa:201294 | https://omim.org/entry/608897 | http://www.orpha.net/ORDO/Orphanet_120416 | 17q25.3 |
http://identifiers.org/hgnc/16356 | USH1G | USH1 protein network component sans | http://identifiers.org/ncbigene/124590 | http://identifiers.org/ensembl/ENSG00000182040 | http://identifiers.org/uniprot/Q495M9 | null | http://identifiers.org/kegg.genes/hsa:124590 | https://omim.org/entry/607696 | http://www.orpha.net/ORDO/Orphanet_120442 | 17q25.1 |
http://identifiers.org/hgnc/12607 | USP1 | ubiquitin specific peptidase 1 | http://identifiers.org/ncbigene/7398 | http://identifiers.org/ensembl/ENSG00000162607 | http://identifiers.org/uniprot/O94782 | https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2428 | http://identifiers.org/kegg.genes/hsa:7398 | https://omim.org/entry/603478 | http://www.orpha.net/ORDO/Orphanet_ | 1p31.3 |
http://identifiers.org/hgnc/18533 | USP48 | ubiquitin specific peptidase 48 | http://identifiers.org/ncbigene/84196 | http://identifiers.org/ensembl/ENSG00000090686 | http://identifiers.org/uniprot/Q86UV5 | null | http://identifiers.org/kegg.genes/hsa:84196 | https://omim.org/entry/617445 | http://www.orpha.net/ORDO/Orphanet_ | 1p36.12 |
http://identifiers.org/hgnc/24327 | VGLL3 | vestigial like family member 3 | http://identifiers.org/ncbigene/389136 | http://identifiers.org/ensembl/ENSG00000206538 | http://identifiers.org/uniprot/A8MV65 | null | http://identifiers.org/kegg.genes/hsa:389136 | https://omim.org/entry/609980 | http://www.orpha.net/ORDO/Orphanet_ | 3p12.1 |
http://identifiers.org/hgnc/25522 | WRAP53 | WD repeat containing antisense to TP53 | http://identifiers.org/ncbigene/55135 | http://identifiers.org/ensembl/ENSG00000141499 | http://identifiers.org/uniprot/Q9BUR4 | null | http://identifiers.org/kegg.genes/hsa:55135 | https://omim.org/entry/612661 | http://www.orpha.net/ORDO/Orphanet_266162 | 17p13.1 |
http://identifiers.org/hgnc/18329 | YPEL5 | yippee like 5 | http://identifiers.org/ncbigene/51646 | http://identifiers.org/ensembl/ENSG00000119801 | http://identifiers.org/uniprot/P62699 | null | http://identifiers.org/kegg.genes/hsa:51646 | https://omim.org/entry/609726 | http://www.orpha.net/ORDO/Orphanet_ | 2p23.1 |
Dataset Description
This dataset provides a structured representation of gene-related information, incorporating resolvable URLs to key external databases and ontologies. These URLs allow users to directly access detailed information about genes, their relationships, and associated biological properties. The dataset is ideal for bioinformatics research, knowledge graph development, and integrative analyses of genomic data.
Features and Data Structure
The dataset includes the following fields:
identifier
: A resolvable URL that uniquely identifies the gene in the HGNC database.gene_symbol
: The standardized symbol representing the gene (e.g.,TP53
).name
: The full name or description of the gene (e.g.,Thymidylate Synthetase
).entrez_url
: A URL to the gene's entry in the NCBI Entrez Gene database.ensembl_url
: A URL to the gene's entry in the Ensembl genome database.uniprot_url
: A URL to the gene's entry in the UniProt database, providing protein-specific details.iuphar_url
: A URL to the IUPHAR database for pharmacological data related to the gene.kegg_url
: A URL to the gene's pathway information in the KEGG database.omim_url
: A URL to the OMIM database for genetic disorder associations.orphanet_url
: A URL to the Orphanet database for rare disease associations.location
: The chromosomal location of the gene (e.g.,18p11.32
), indicating its position in the human genome.
Key Adjustments in Terminology
- Fields like
entrez_url
,ensembl_url
, and others are not simple "identifiers." They are resolvable URLs that link to detailed information within their respective databases. - The term
URL
is explicitly used in the field names to clarify their purpose as lookup resources rather than unique identifiers.
Usage
This dataset enables direct integration with external knowledge bases through the provided URLs, making it a powerful resource for tasks such as:
- Data Integration: Map genes across databases by resolving URLs to access detailed metadata.
- Knowledge Graph Construction: Use the dataset to establish semantic links between genes, proteins, diseases, and pathways.
- Genomic Analysis: Explore chromosomal locations and database-specific annotations for genes of interest.
Example Queries
- Retrieve genes located on chromosome 18.
- Access details about a specific gene by resolving its uniprot_url.
- Explore rare diseases associated with genes by querying orphanet_url.
Citation
If you use this dataset, please cite it as follows:
@dataset{dwb2023_gene_network,
author = {dwb2023},
title = {Gene Network with HGNC Symbols V4},
year = {2025},
publisher = {Hugging Face Datasets},
url = {https://huggingface.co/datasets/dwb2023/gene_network_with_hgnc_symbols}
}
Acknowledgements
The dataset integrates information from trusted resources, including HGNC, NCBI Entrez, Ensembl, UniProt, KEGG, OMIM, and Orphanet. We thank these organizations for their significant contributions to genomics research.
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