hgnc_id
string | symbol
string | name
string | locus_group
string | locus_type
string | status
string | location
string | alias_symbol
sequence | alias_name
sequence | prev_symbol
sequence | prev_name
sequence | gene_group
sequence | gene_group_id
sequence | date_approved_reserved
string | date_symbol_changed
string | date_name_changed
string | date_modified
string | entrez_id
string | ensembl_gene_id
string | vega_id
string | ucsc_id
string | ena
sequence | refseq_accession
sequence | ccds_id
sequence | uniprot_ids
sequence | pubmed_id
sequence | mgd_id
sequence | rgd_id
sequence | lsdb
sequence | cosmic
string | omim_id
sequence | bioparadigms_slc
string | orphanet
float64 | merops
string | iuphar
string | cd
string | enzyme_id
sequence | agr
string | mane_select
sequence | gencc
string | uuid
string | rna_central_id
sequence | curator_notes
sequence |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGNC:9141 | PMVK | phosphomevalonate kinase | protein-coding gene | gene with protein product | Approved | 1q21.3 | [
"PMK",
"PMKA",
"HUMPMKI"
] | null | null | null | null | null | 1999-07-09 | null | null | 2023-01-20 | 10654 | ENSG00000163344 | OTTHUMG00000037415 | uc001ffq.4 | [
"L77213"
] | [
"NM_006556"
] | [
"CCDS1073"
] | [
"Q15126"
] | [
8663599,
10191291
] | [
"MGI:1915853"
] | [
"RGD:1310812"
] | null | null | [
"607622"
] | null | 444,563 | null | objectId:641 | null | [
"2.7.4.2"
] | HGNC:9141 | [
"ENST00000368467.4",
"NM_006556.4"
] | HGNC:9141 | abf4ee40-08d2-404d-9534-b17040e821b6 | null | null |
HGNC:21484 | MCM9 | minichromosome maintenance 9 homologous recombination repair factor | protein-coding gene | gene with protein product | Approved | 6q22.31 | [
"MGC35304",
"dJ329L24.3",
"FLJ20170"
] | null | [
"MCMDC1",
"C6orf61"
] | [
"minichromosome maintenance deficient domain containing 1",
"chromosome 6 open reading frame 61",
"minichromosome maintenance complex component 9"
] | [
"MCM family"
] | [
1085
] | 2003-06-18 | 2007-04-04 | 2015-08-25 | 2023-01-20 | 254394 | ENSG00000111877 | OTTHUMG00000015468 | uc063qzj.1 | [
"BC031658"
] | [
"NM_153255"
] | [
"CCDS5121",
"CCDS56447"
] | [
"Q9NXL9"
] | [
16226853,
15850810,
16495042
] | [
"MGI:1918817"
] | [
"RGD:1560557"
] | null | null | [
"610098"
] | null | 448,630 | null | null | null | null | HGNC:21484 | [
"ENST00000619706.5",
"NM_017696.3"
] | HGNC:21484 | ceb20fe9-9be6-416f-8fea-db98887324ca | null | null |
HGNC:15861 | DHX35 | DEAH-box helicase 35 | protein-coding gene | gene with protein product | Approved | 20q11.23-q12 | [
"FLJ22759",
"KAIA0875"
] | null | [
"C20orf15",
"DDX35"
] | [
"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35",
"DEAH (Asp-Glu-Ala-His) box polypeptide 35"
] | [
"DEAH-box helicases",
"Spliceosomal C complex"
] | [
500,
1510
] | 2001-11-27 | 2003-06-13 | 2016-01-07 | 2023-01-20 | 60625 | ENSG00000101452 | OTTHUMG00000032463 | uc002xjh.4 | [
"AK026412"
] | [
"NM_021931"
] | [
"CCDS13310",
"CCDS54463"
] | [
"Q9H5Z1"
] | null | [
"MGI:1918965"
] | [
"RGD:1311165"
] | null | null | null | null | null | null | null | null | null | HGNC:15861 | [
"ENST00000252011.8",
"NM_021931.4"
] | null | 4dd0f447-2041-4808-9cb8-6f47551572df | null | null |
HGNC:6201 | JTB | jumping translocation breakpoint | protein-coding gene | gene with protein product | Approved | 1q21.3 | [
"hJT",
"PAR"
] | [
"prostate androgen-regulated gene"
] | null | null | null | null | 2000-01-31 | null | null | 2023-01-20 | 10899 | ENSG00000143543 | OTTHUMG00000036590 | uc001fds.4 | [
"AB016488"
] | [
"NM_006694"
] | [
"CCDS1057"
] | [
"O76095"
] | [
10321732,
27751357,
22079049
] | [
"MGI:1346082"
] | [
"RGD:2942"
] | null | null | [
"604671"
] | null | null | null | null | null | null | HGNC:6201 | [
"ENST00000271843.9",
"NM_006694.4"
] | null | 50fb9258-a49a-45dc-9fee-622e37c71fbb | null | null |
HGNC:9571 | PSMF1 | proteasome inhibitor subunit 1 | protein-coding gene | gene with protein product | Approved | 20p13 | [
"PI31"
] | [
"proteasome inhibitor hP131 subunit"
] | null | [
"proteasome (prosome, macropain) inhibitor subunit 1 (PI31)"
] | [
"Proteasome"
] | [
690
] | 1999-04-15 | null | 2015-08-12 | 2023-01-20 | 9491 | ENSG00000125818 | OTTHUMG00000031656 | uc002wel.4 | [
"D88378"
] | [
"NM_178578"
] | [
"CCDS13010",
"CCDS82589"
] | [
"Q92530"
] | [
10363639
] | [
"MGI:1346072"
] | [
"RGD:1587528"
] | null | null | [
"617858"
] | null | null | null | null | null | null | HGNC:9571 | [
"ENST00000335877.11",
"NM_006814.5"
] | null | c7ea0693-4dfd-4564-b3d1-a0883f4ad5ac | null | null |
HGNC:23990 | STAC2 | SH3 and cysteine rich domain 2 | protein-coding gene | gene with protein product | Approved | 17q12 | [
"24b2"
] | null | null | null | [
"SH3 and cysteine rich domain family"
] | [
2308
] | 2004-05-19 | null | null | 2024-01-17 | 342667 | ENSG00000141750 | OTTHUMG00000179039 | uc002hrs.4 | [
"AJ608762"
] | [
"NM_198993"
] | [
"CCDS11335"
] | [
"Q6ZMT1"
] | [
25548159,
29363593
] | [
"MGI:2144518"
] | [
"RGD:1305548"
] | null | null | null | null | null | null | null | null | null | HGNC:23990 | [
"ENST00000333461.6",
"NM_198993.5"
] | null | 8206483b-f2b4-41b4-af32-6d5f05cd38e4 | null | null |
HGNC:10683 | SDHD | succinate dehydrogenase complex subunit D | protein-coding gene | gene with protein product | Approved | 11q23.1 | [
"cybS"
] | [
"small subunit of cytochrome b"
] | [
"PGL",
"PGL1"
] | [
"succinate dehydrogenase complex, subunit D, integral membrane protein"
] | [
"Mitochondrial complex II: succinate dehydrogenase subunits"
] | [
641
] | 1997-10-21 | null | 2016-01-28 | 2023-01-20 | 6392 | ENSG00000204370 | OTTHUMG00000166997 | uc001pmz.5 | [
"AB006202"
] | [
"NM_003002"
] | null | [
"O14521"
] | [
9533030,
1301144
] | [
"MGI:1914175"
] | [
"RGD:735231"
] | [
"SDHD @ LOVD|http://www.LOVD.nl/SDHD",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD",
"LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml"
] | SDHD | [
"602690"
] | null | 118,561 | null | null | null | null | HGNC:10683 | [
"ENST00000375549.8",
"NM_003002.4"
] | HGNC:10683 | a047a819-acfa-4406-8689-ec43b4fd19a1 | null | null |
HGNC:12563 | UMPS | uridine monophosphate synthetase | protein-coding gene | gene with protein product | Approved | 3q21.2 | null | [
"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"
] | null | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 1986-01-01 | null | 2008-02-04 | 2023-01-20 | 7372 | ENSG00000114491 | OTTHUMG00000159431 | uc003ehl.5 | null | [
"NM_000373"
] | [
"CCDS3029"
] | [
"P11172"
] | [
2767686
] | [
"MGI:1298388"
] | [
"RGD:1311908"
] | null | null | [
"613891"
] | null | 120,414 | null | null | null | [
"2.4.2.10",
"4.1.1.23"
] | HGNC:12563 | [
"ENST00000232607.7",
"NM_000373.4"
] | HGNC:12563 | a5555112-cf2f-42ea-bf1a-9c01029b96ae | null | null |
HGNC:3582 | FANCA | FA complementation group A | protein-coding gene | gene with protein product | Approved | 16q24.3 | [
"FAA",
"FA-H",
"FAH"
] | null | [
"FACA",
"FANCH"
] | [
"Fanconi anemia complementation group A"
] | [
"FA complementation groups",
"FA core complex"
] | [
548,
1751
] | 1995-12-22 | null | 2018-05-09 | 2023-01-20 | 2175 | ENSG00000187741 | OTTHUMG00000173049 | uc002fou.2 | [
"Z83067"
] | [
"NM_000135"
] | null | [
"O15360"
] | [
7581462,
9382107
] | [
"MGI:1341823"
] | [
"RGD:1311380"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA",
"LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml"
] | FANCA | [
"607139"
] | null | 121,693 | null | null | null | null | HGNC:3582 | [
"ENST00000389301.8",
"NM_000135.4"
] | HGNC:3582 | 6f7047de-b0cd-436c-9518-cf587cd5095e | null | null |
HGNC:8988 | PIN1 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1 | protein-coding gene | gene with protein product | Approved | 19p13 | [
"dod"
] | [
"protein interacting with never in mitosis A1",
"parvulin PIN1"
] | null | [
"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"
] | [
"Parvulins"
] | [
920
] | 1996-12-16 | null | 2008-03-25 | 2023-01-20 | 5300 | ENSG00000127445 | OTTHUMG00000180388 | uc002mml.3 | null | [
"NM_006221"
] | [
"CCDS12220"
] | [
"Q13526"
] | [
8606777
] | [
"MGI:1346036"
] | [
"RGD:1310299"
] | [
"LRG_847|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_847.xml"
] | null | [
"601052"
] | null | null | null | objectId:3171 | null | null | HGNC:8988 | [
"ENST00000247970.9",
"NM_006221.4"
] | null | 0ce903c5-b19b-459a-a14a-0c3ec9d9a303 | null | null |
HGNC:6743 | CAPRIN1 | cell cycle associated protein 1 | protein-coding gene | gene with protein product | Approved | 11p13 | [
"caprin-1",
"RNG105"
] | [
"cytoplasmic activation/proliferation-associated protein-1"
] | [
"M11S1",
"GPIAP1"
] | [
"membrane component, chromosome 11, surface marker 1",
"GPI-anchored membrane protein 1"
] | null | null | 1995-12-18 | 2007-03-27 | 2007-03-27 | 2023-01-20 | 4076 | ENSG00000135387 | OTTHUMG00000166248 | uc001mvh.2 | [
"BC001731"
] | [
"NM_005898"
] | [
"CCDS31453",
"CCDS31454"
] | [
"Q14444"
] | [
7657653,
16177067,
17210633,
14764709,
15471883
] | [
"MGI:1858234"
] | [
"RGD:1305707"
] | null | null | [
"601178"
] | null | null | null | null | null | null | HGNC:6743 | [
"ENST00000341394.9",
"NM_005898.5"
] | HGNC:6743 | 02292dd6-ce1e-4cb2-81e0-fdad6935531a | null | null |
HGNC:25682 | FAM106A | family with sequence similarity 106 member A | non-coding RNA | RNA, long non-coding | Approved | 17p11.2 | [
"FLJ11800"
] | null | null | [
"family with sequence similarity 106, member A"
] | [
"Long non-coding RNAs with FAM root symbol"
] | [
1993
] | 2006-01-12 | null | 2015-11-18 | 2023-03-15 | 80039 | ENSG00000273018 | OTTHUMG00000179516 | uc002gtz.3 | [
"AK021862"
] | [
"NR_170998"
] | null | [
"Q4KMX7"
] | [
14702039
] | null | null | null | null | null | null | null | null | null | null | null | HGNC:25682 | null | null | c060d96f-1677-4d6f-bce6-842d9b23ee49 | [
"URS000075F0DD"
] | null |
HGNC:9884 | RB1 | RB transcriptional corepressor 1 | protein-coding gene | gene with protein product | Approved | 13q14.2 | [
"RB",
"PPP1R130"
] | [
"prepro-retinoblastoma-associated protein",
"protein phosphatase 1, regulatory subunit 130"
] | [
"OSRC"
] | [
"osteosarcoma",
"retinoblastoma 1"
] | [
"Receptor ligands"
] | [
542
] | 1986-01-01 | null | 2016-05-24 | 2023-01-20 | 5925 | ENSG00000139687 | OTTHUMG00000016900 | uc001vcb.4 | [
"M15400"
] | [
"NM_000321"
] | [
"CCDS31973"
] | [
"P06400"
] | [
1857421,
15057823
] | [
"MGI:97874"
] | [
"RGD:3540"
] | [
"RB1-LSDB|http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1",
"LRG_517|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_517.xml"
] | RB1 | [
"614041"
] | null | 118,239 | null | ligandId:5253 | null | null | HGNC:9884 | [
"ENST00000267163.6",
"NM_000321.3"
] | HGNC:9884 | 6303f2b5-2189-41b4-9ea1-7788d53ddf76 | null | null |
HGNC:19701 | CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | protein-coding gene | gene with protein product | Approved | Xp22.12 | [
"KIAA0902",
"CNK2",
"KSR2"
] | null | null | null | [
"Pleckstrin homology domain containing",
"Sterile alpha motif domain containing",
"PDZ domain containing"
] | [
682,
760,
1220
] | 2004-05-27 | null | null | 2023-01-20 | 22866 | ENSG00000149970 | OTTHUMG00000021233 | uc011mjo.3 | [
"AB020709"
] | [
"NM_014927"
] | null | [
"Q8WXI2"
] | null | [
"MGI:2661175"
] | [
"RGD:708454"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2"
] | null | [
"300724"
] | null | 449,961 | null | null | null | null | HGNC:19701 | [
"ENST00000379510.5",
"NM_014927.5"
] | HGNC:19701 | ede2a473-6529-4e99-b519-9a0547dc59f8 | null | null |
HGNC:7224 | MPV17 | mitochondrial inner membrane protein MPV17 | protein-coding gene | gene with protein product | Approved | 2p23.3 | [
"SYM1"
] | [
"glomerulosclerosis"
] | null | [
"MpV17 transgene, murine homolog, glomerulosclerosis"
] | null | null | 1994-03-21 | null | 2018-08-15 | 2023-01-20 | 4358 | ENSG00000115204 | OTTHUMG00000097074 | uc002rjs.4 | null | [
"NM_002437"
] | [
"CCDS1748"
] | [
"P39210"
] | [
8281143,
16582910
] | [
"MGI:97138"
] | [
"RGD:1310512"
] | null | null | [
"137960"
] | null | 123,470 | null | null | null | null | HGNC:7224 | [
"ENST00000380044.6",
"NM_002437.5"
] | HGNC:7224 | eea097c8-474e-469e-ac92-fdf610015849 | null | null |
HGNC:25981 | TOR4A | torsin family 4 member A | protein-coding gene | gene with protein product | Approved | 9q34.3 | [
"FLJ20245"
] | null | [
"C9orf167"
] | [
"chromosome 9 open reading frame 167",
"torsin family 4, member A"
] | [
"Torsins"
] | [
1831
] | 2007-02-08 | 2012-04-03 | 2016-01-25 | 2023-01-20 | 54863 | ENSG00000198113 | OTTHUMG00000131779 | uc004cmn.4 | [
"AK023361"
] | [
"NM_017723"
] | [
"CCDS7041"
] | [
"Q9NXH8"
] | null | [
"MGI:2442720"
] | [
"RGD:1308019"
] | null | null | null | null | null | null | null | null | null | HGNC:25981 | [
"ENST00000357503.3",
"NM_017723.3"
] | null | e46a6c88-929d-4ef8-96f3-940d85a2fd1c | null | null |
HGNC:22474 | MED13 | mediator complex subunit 13 | protein-coding gene | gene with protein product | Approved | 17q23.2 | [
"KIAA0593",
"TRAP240"
] | null | [
"THRAP1"
] | [
"thyroid hormone receptor associated protein 1"
] | [
"Mediator complex"
] | [
1061
] | 2004-03-10 | 2007-07-30 | 2007-07-30 | 2023-01-20 | 9969 | ENSG00000108510 | OTTHUMG00000179251 | uc002izo.3 | [
"AB011165"
] | [
"NM_005121"
] | [
"CCDS42366"
] | [
"Q9UHV7"
] | [
1019863
] | [
"MGI:3029632"
] | [
"RGD:1304829"
] | null | null | [
"603808"
] | null | null | null | null | null | null | HGNC:22474 | [
"ENST00000397786.7",
"NM_005121.3"
] | HGNC:22474 | aec2aebf-e016-4ddc-a4fb-c38268681610 | null | null |
HGNC:10839 | SHBG | sex hormone binding globulin | protein-coding gene | gene with protein product | Approved | 17p13.1 | [
"ABP",
"TEBG",
"MGC126834",
"MGC138391"
] | [
"androgen binding protein"
] | null | [
"sex hormone-binding globulin"
] | null | null | 1990-03-14 | null | 2016-04-04 | 2023-01-20 | 6462 | ENSG00000129214 | OTTHUMG00000108153 | uc002gie.4 | null | [
"NM_001040"
] | null | [
"P04278"
] | [
2587256
] | [
"MGI:98295"
] | [
"RGD:3671"
] | null | null | [
"182205"
] | null | null | null | null | null | null | HGNC:10839 | [
"ENST00000380450.9",
"NM_001040.5"
] | null | 33acc57a-71c4-4856-bdbc-f13781b2e547 | null | null |
HGNC:29666 | MTFMT | mitochondrial methionyl-tRNA formyltransferase | protein-coding gene | gene with protein product | Approved | 15q22.31 | [
"FMT1"
] | null | null | null | null | null | 2005-07-19 | 2005-08-09 | null | 2023-01-20 | 123263 | ENSG00000103707 | OTTHUMG00000172371 | uc002aof.5 | [
"AK055688"
] | [
"NM_139242"
] | [
"CCDS45280"
] | [
"Q96DP5"
] | [
9614118
] | [
"MGI:1916856"
] | [
"RGD:1309462"
] | null | null | [
"611766"
] | null | 299,657 | null | null | null | [
"2.1.2.9"
] | HGNC:29666 | [
"ENST00000220058.9",
"NM_139242.4"
] | HGNC:29666 | 69b4a5b8-b3ea-4f71-a6f5-53eeb38a6f03 | null | null |
HGNC:11999 | TP53BP1 | tumor protein p53 binding protein 1 | protein-coding gene | gene with protein product | Approved | 15q15.3 | [
"53BP1",
"p202",
"TDRD30"
] | null | null | [
"tumor protein p53-binding protein, 1"
] | [
"Tudor domain containing"
] | [
780
] | 2000-06-24 | null | 2007-08-02 | 2023-01-20 | 7158 | ENSG00000067369 | OTTHUMG00000059757 | uc001zrs.4 | [
"U09477"
] | [
"NM_001141979"
] | null | [
"Q12888"
] | [
8016121,
9748285
] | [
"MGI:1351320"
] | [
"RGD:1308039"
] | null | null | [
"605230"
] | null | null | null | null | null | null | HGNC:11999 | [
"ENST00000382044.9",
"NM_001141980.3"
] | null | a38d2322-3b58-4248-9f67-eae077c94ab7 | null | null |
HGNC:3587 | FANCF | FA complementation group F | protein-coding gene | gene with protein product | Approved | 11p14.3 | [
"FAF"
] | null | null | [
"Fanconi anemia complementation group F"
] | [
"FA complementation groups",
"FA core complex"
] | [
548,
1751
] | 1998-08-26 | null | 2018-05-09 | 2023-01-20 | 2188 | ENSG00000183161 | OTTHUMG00000166070 | uc001mql.2 | null | [
"NM_022725"
] | [
"CCDS7857"
] | [
"Q9NPI8"
] | [
9382107
] | [
"MGI:3689889"
] | [
"RGD:1561456"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCF",
"LRG_527|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_527.xml"
] | FANCF | [
"613897"
] | null | 121,719 | null | null | null | null | HGNC:3587 | [
"ENST00000327470.6",
"NM_022725.4"
] | HGNC:3587 | 0a7889fa-e413-427d-b8c5-efd2258ab48c | null | null |
HGNC:1148 | BUB1 | BUB1 mitotic checkpoint serine/threonine kinase | protein-coding gene | gene with protein product | Approved | 2q13 | [
"hBUB1",
"BUB1A"
] | null | [
"BUB1L"
] | [
"budding uninhibited by benzimidazoles 1 (yeast homolog)",
"budding uninhibited by benzimidazoles 1 homolog (yeast)"
] | null | null | 1997-08-18 | null | 2016-01-15 | 2023-01-20 | 699 | ENSG00000169679 | OTTHUMG00000153638 | uc002tgc.5 | [
"AF046078"
] | [
"NM_004336"
] | null | [
"O43683"
] | [
9441741
] | [
"MGI:1100510"
] | [
"RGD:1311707"
] | null | null | [
"602452"
] | null | 367,084 | null | objectId:1949 | null | null | HGNC:1148 | [
"ENST00000302759.11",
"NM_004336.5"
] | HGNC:1148 | da597a4b-75a5-4d5b-92f0-98ca2f0a918d | null | null |
HGNC:16245 | PARD6B | par-6 family cell polarity regulator beta | protein-coding gene | gene with protein product | Approved | 20q13.13 | [
"PAR-6B"
] | null | null | [
"par-6 (partitioning defective 6, C.elegans) homolog beta",
"par-6 partitioning defective 6 homolog beta (C. elegans)"
] | [
"PDZ domain containing"
] | [
1220
] | 2001-08-01 | null | 2013-08-28 | 2023-01-20 | 84612 | ENSG00000124171 | OTTHUMG00000032732 | uc002xvo.3 | [
"AB044555"
] | [
"NM_032521"
] | [
"CCDS33485"
] | [
"Q9BYG5"
] | [
11260256
] | [
"MGI:2135605"
] | [
"RGD:1308205"
] | null | null | [
"608975"
] | null | null | null | null | null | null | HGNC:16245 | [
"ENST00000371610.7",
"NM_032521.3"
] | null | f518108a-cd0c-4737-b398-7531593c5f49 | null | null |
HGNC:12441 | TYMS | thymidylate synthetase | protein-coding gene | gene with protein product | Approved | 18p11.32 | [
"Tsase",
"TMS",
"HsT422"
] | null | [
"TS"
] | null | null | null | 1990-09-10 | null | null | 2023-01-20 | 7298 | ENSG00000176890 | OTTHUMG00000131473 | uc010dka.2 | [
"X02308"
] | [
"NM_001071"
] | null | [
"P04818"
] | null | [
"MGI:98878"
] | [
"RGD:3921"
] | [
"LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml"
] | null | [
"188350"
] | null | 241,969 | null | objectId:2642 | null | [
"2.1.1.45"
] | HGNC:12441 | [
"ENST00000323274.15",
"NM_001071.4"
] | null | c667dcf6-a2c1-48a7-ae57-aa4cc4023a2e | null | null |
HGNC:16209 | RPRD1B | regulation of nuclear pre-mRNA domain containing 1B | protein-coding gene | gene with protein product | Approved | 20q11.23 | [
"dJ1057B20.2",
"DKFZp434P0735",
"CREPT",
"FLJ44520",
"NET60",
"Kub5-Hera",
"K-H"
] | [
"cell-cycle related and expression-elevated protein in tumor",
"Ku70-binding protein 5-Hera"
] | [
"C20orf77"
] | [
"chromosome 20 open reading frame 77"
] | null | null | 2001-07-17 | 2008-07-28 | 2008-08-15 | 2023-01-20 | 58490 | ENSG00000101413 | OTTHUMG00000032434 | uc002xho.5 | [
"AL109823"
] | [
"NM_021215"
] | [
"CCDS13301"
] | [
"Q9NQG5"
] | [
22231121
] | [
"MGI:1917720"
] | [
"RGD:1304782"
] | null | null | [
"614694"
] | null | null | null | null | null | null | HGNC:16209 | [
"ENST00000373433.9",
"NM_021215.4"
] | null | a742b1b7-2873-4a39-8c4c-67e7c1f2a904 | null | null |
HGNC:5468 | IGFALS | insulin like growth factor binding protein acid labile subunit | protein-coding gene | gene with protein product | Approved | 16p13.3 | [
"ALS"
] | null | null | [
"insulin-like growth factor binding protein, acid labile subunit"
] | null | null | 1997-11-28 | null | 2015-11-23 | 2023-01-20 | 3483 | ENSG00000099769 | OTTHUMG00000128638 | uc002cmy.4 | [
"M86826"
] | [
"NM_001146006"
] | [
"CCDS10446",
"CCDS53982"
] | [
"P35858"
] | [
1379671,
16114275
] | [
"MGI:107973"
] | [
"RGD:68429"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS"
] | null | [
"601489"
] | null | 159,982 | null | null | null | null | HGNC:5468 | [
"ENST00000215539.4",
"NM_004970.3"
] | HGNC:5468 | 22c1142b-9019-4407-9b14-255ca573ed4d | null | null |
HGNC:29249 | FBXO42 | F-box protein 42 | protein-coding gene | gene with protein product | Approved | 1p36.13 | [
"KIAA1332",
"Fbx42"
] | null | null | null | [
"F-boxes other"
] | [
560
] | 2004-06-15 | null | null | 2023-01-20 | 54455 | ENSG00000037637 | OTTHUMG00000002218 | uc001ayg.4 | [
"BC063864"
] | [
"NM_018994"
] | [
"CCDS30613"
] | [
"Q6P3S6"
] | [
10718198
] | [
"MGI:1924992"
] | [
"RGD:1304787"
] | null | null | [
"609109"
] | null | null | null | null | null | null | HGNC:29249 | [
"ENST00000375592.8",
"NM_018994.3"
] | null | 71f7b405-bef0-49a9-9df2-4495231b6fe3 | null | null |
HGNC:30631 | TADA1 | transcriptional adaptor 1 | protein-coding gene | gene with protein product | Approved | 1q24.1 | [
"STAF42",
"ADA1",
"hADA1",
"HFI1"
] | null | [
"TADA1L"
] | [
"transcriptional adaptor 1 (HFI1 homolog, yeast)-like",
"transcriptional adaptor 1 (HFI1 homolog, yeast)"
] | [
"SAGA complex"
] | [
1059
] | 2005-06-10 | 2009-10-02 | 2009-10-02 | 2023-01-20 | 117143 | ENSG00000152382 | OTTHUMG00000034321 | uc001gdw.4 | [
"BC015401"
] | [
"NM_053053"
] | [
"CCDS1255"
] | [
"Q96BN2"
] | [
11564863
] | [
"MGI:1196415"
] | [
"RGD:1306774"
] | null | null | [
"612763"
] | null | null | null | null | null | null | HGNC:30631 | [
"ENST00000367874.5",
"NM_053053.4"
] | null | 5b2623c7-5d77-478c-a809-ff35f76b6242 | null | null |
HGNC:9826 | RAD54L | RAD54 like | protein-coding gene | gene with protein product | Approved | 1p34.1 | [
"hHR54",
"hRAD54",
"RAD54A"
] | null | null | [
"RAD54 (S.cerevisiae)-like",
"RAD54 like (S. cerevisiae)"
] | [
"SNF2 related family"
] | [
1190
] | 1998-11-04 | null | 2017-08-08 | 2023-01-20 | 8438 | ENSG00000085999 | OTTHUMG00000007772 | uc009vye.2 | [
"X97795"
] | [
"NM_003579"
] | [
"CCDS532"
] | [
"Q92698"
] | [
8805304
] | [
"MGI:894697"
] | [
"RGD:1310600"
] | [
"LRG_1414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1414.xml"
] | null | [
"603615"
] | null | 437,664 | null | null | null | null | HGNC:9826 | [
"ENST00000371975.9",
"NM_003579.4"
] | null | 9afbb9bf-2df3-495c-888e-b5c961aa7439 | null | null |
HGNC:24327 | VGLL3 | vestigial like family member 3 | protein-coding gene | gene with protein product | Approved | 3p12.1 | [
"VGL-3"
] | null | null | [
"vestigial like 3 (Drosophila)",
"vestigial-like family member 3"
] | [
"Vestigial like family"
] | [
367
] | 2005-12-30 | null | 2015-11-23 | 2023-01-20 | 389136 | ENSG00000206538 | OTTHUMG00000158984 | uc003dqn.4 | [
"AF099505"
] | [
"NM_016206"
] | [
"CCDS43110",
"CCDS82807"
] | [
"A8MV65"
] | [
12376544
] | [
"MGI:1920819"
] | [
"RGD:1560030"
] | null | null | [
"609980"
] | null | null | null | null | null | null | HGNC:24327 | [
"ENST00000398399.7",
"NM_016206.4"
] | null | 61b910b1-3d7e-4ba1-96f2-84c99b785f06 | null | null |
HGNC:20292 | CAB39 | calcium binding protein 39 | protein-coding gene | gene with protein product | Approved | 2q37.1 | [
"CGI-66",
"MO25"
] | null | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2004-07-02 | null | null | 2023-07-26 | 51719 | ENSG00000135932 | OTTHUMG00000133220 | uc002vqx.4 | [
"AF113536"
] | [
"NM_016289"
] | [
"CCDS2478"
] | [
"Q9Y376"
] | [
8418809,
14730349
] | [
"MGI:107438"
] | [
"RGD:1306390"
] | null | null | [
"612174"
] | null | null | null | null | null | null | HGNC:20292 | [
"ENST00000258418.10",
"NM_016289.4"
] | null | c4f4a894-9b0e-4f68-a0a0-f132937b4ac1 | null | null |
HGNC:12687 | VHL | von Hippel-Lindau tumor suppressor | protein-coding gene | gene with protein product | Approved | 3p25.3 | [
"VHL1"
] | null | null | [
"von Hippel-Lindau syndrome",
"von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase"
] | null | null | 1986-01-01 | null | 2016-03-02 | 2023-01-20 | 7428 | ENSG00000134086 | OTTHUMG00000128668 | uc003bvc.4 | [
"L15409"
] | [
"NM_000551"
] | null | [
"P40337"
] | [
9671762
] | [
"MGI:103223"
] | [
"RGD:3960"
] | [
"UMD Locus Specific Databases|http://www.umd.be/",
"LRG_322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_322.xml"
] | VHL | [
"608537"
] | null | 120,467 | null | objectId:3204 | null | null | HGNC:12687 | [
"ENST00000256474.3",
"NM_000551.4"
] | HGNC:12687 | 50929358-41f1-430c-af5a-d727a5bd6a3e | null | null |
HGNC:17034 | TUSC2 | tumor suppressor 2, mitochondrial calcium regulator | protein-coding gene | gene with protein product | Approved | 3p21.31 | [
"FUS1",
"PAP",
"C3orf11"
] | null | [
"PDAP2"
] | [
"PDGFA associated protein 2",
"tumor suppressor candidate 2"
] | null | null | 2003-09-25 | 2004-01-21 | 2018-02-23 | 2023-01-20 | 11334 | ENSG00000114383 | OTTHUMG00000156877 | uc003czy.2 | [
"AF055479"
] | [
"NM_007275"
] | [
"CCDS2819"
] | [
"O75896"
] | [
8780057,
11593436
] | [
"MGI:1931086"
] | [
"RGD:1561664"
] | null | null | [
"607052"
] | null | null | null | null | null | null | HGNC:17034 | [
"ENST00000232496.5",
"NM_007275.3"
] | null | e0126842-7a76-4abe-8b75-6309735e64eb | null | null |
HGNC:23147 | UNC13D | unc-13 homolog D | protein-coding gene | gene with protein product | Approved | 17q25.3 | [
"Munc13-4"
] | null | null | [
"unc-13 homolog D (C. elegans)"
] | [
"UNC13 homologs"
] | [
836
] | 2003-10-16 | null | 2016-04-05 | 2024-01-16 | 201294 | ENSG00000092929 | OTTHUMG00000179895 | uc002jpp.5 | [
"AK024474"
] | [
"NM_199242"
] | [
"CCDS11730"
] | [
"Q70J99"
] | [
17993578
] | [
"MGI:1917700"
] | [
"RGD:628593"
] | [
"UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3|http://structure.bmc.lu.se/idbase/UNC13Dbase/",
"CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=UNC13D",
"LRG_122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_122.xml"
] | null | [
"608897"
] | null | 120,416 | null | null | null | null | HGNC:23147 | [
"ENST00000207549.9",
"NM_199242.3"
] | HGNC:23147 | 9df77aac-e404-4007-92ad-897f72a70930 | null | null |
HGNC:18017 | NUP160 | nucleoporin 160 | protein-coding gene | gene with protein product | Approved | 11p11.2 | [
"KIAA0197",
"FLJ22583"
] | [
"Nuclear pore complex protein Nup160"
] | null | [
"nucleoporin 160kDa"
] | [
"Nucleoporins"
] | [
1051
] | 2002-01-18 | null | 2016-06-01 | 2023-06-19 | 23279 | ENSG00000030066 | OTTHUMG00000166534 | uc001ngm.4 | [
"D83781"
] | [
"NM_015231"
] | [
"CCDS31484",
"CCDS81567"
] | [
"Q12769"
] | [
11684705
] | [
"MGI:1926227"
] | [
"RGD:1311052"
] | null | null | [
"607614"
] | null | null | null | null | null | null | HGNC:18017 | [
"ENST00000378460.7",
"NM_015231.3"
] | HGNC:18017 | bea38402-fcc3-4995-a241-6265f0a379ce | null | null |
HGNC:13607 | FBXW11 | F-box and WD repeat domain containing 11 | protein-coding gene | gene with protein product | Approved | 5q35.1 | [
"KIAA0696",
"Fbw1b",
"BTRCP2",
"BTRC2",
"Hos",
"Fbw11"
] | null | [
"FBXW1B"
] | [
"F-box and WD-40 domain protein 1B",
"F-box and WD-40 domain protein 11"
] | [
"WD repeat domain containing",
"F-box and WD repeat domain containing"
] | [
362,
559
] | 2000-09-27 | 2004-06-16 | 2007-02-08 | 2023-01-20 | 23291 | ENSG00000072803 | OTTHUMG00000163267 | uc003mbl.2 | [
"AB014596"
] | [
"NM_012300"
] | null | [
"Q9UKB1"
] | [
10531035,
10694485
] | [
"MGI:2144023"
] | [
"RGD:1309121"
] | null | null | [
"605651"
] | null | null | null | null | null | null | HGNC:13607 | [
"ENST00000517395.6",
"NM_001378974.1"
] | HGNC:13607 | 79ad3c1d-e16a-43f0-b26a-0e7af238b35e | null | null |
HGNC:4113 | GAK | cyclin G associated kinase | protein-coding gene | gene with protein product | Approved | 4p16.3 | [
"DNAJC26"
] | [
"auxilin-2"
] | null | null | [
"DNAJ (HSP40) heat shock proteins",
"C2 tensin-type domain containing"
] | [
584,
837
] | 1997-01-09 | null | null | 2023-01-20 | 2580 | ENSG00000178950 | OTTHUMG00000088301 | uc003gbm.6 | [
"D88435"
] | [
"NM_005255"
] | null | [
"O14976"
] | [
9299234
] | [
"MGI:2442153"
] | [
"RGD:621589"
] | null | null | [
"602052"
] | null | null | null | objectId:2027 | null | null | HGNC:4113 | [
"ENST00000314167.9",
"NM_005255.4"
] | null | e2827137-82f7-4864-9b8a-14107b34eec4 | null | null |
HGNC:4606 | PDIA3 | protein disulfide isomerase family A member 3 | protein-coding gene | gene with protein product | Approved | 15q15.3 | [
"P58",
"ERp61",
"ERp57",
"ERp60",
"GRP57",
"PI-PLC",
"HsT17083"
] | null | [
"GRP58"
] | [
"glucose regulated protein, 58kDa",
"protein disulfide isomerase-associated 3",
"protein disulfide isomerase family A, member 3"
] | [
"Protein disulfide isomerases"
] | [
692
] | 1997-06-09 | 2005-03-03 | 2015-11-16 | 2023-01-20 | 2923 | ENSG00000167004 | OTTHUMG00000044444 | uc001zsu.4 | null | [
"NM_005313"
] | [
"CCDS10101"
] | [
"P30101"
] | [
8974399
] | [
"MGI:95834"
] | [
"RGD:68430"
] | null | null | [
"602046"
] | null | null | null | objectId:3293 | null | [
"5.3.4.1"
] | HGNC:4606 | [
"ENST00000300289.10",
"NM_005313.5"
] | null | b3abf99f-c531-4b1b-b136-37b3daea91e4 | null | null |
HGNC:12607 | USP1 | ubiquitin specific peptidase 1 | protein-coding gene | gene with protein product | Approved | 1p31.3 | null | [
"Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1"
] | null | [
"ubiquitin specific protease 1"
] | [
"Ubiquitin specific peptidases"
] | [
366
] | 1998-06-08 | null | 2005-08-08 | 2023-01-20 | 7398 | ENSG00000162607 | OTTHUMG00000008972 | uc001daj.3 | null | [
"NM_001017415"
] | [
"CCDS621"
] | [
"O94782"
] | [
12838346
] | [
"MGI:2385198"
] | [
"RGD:1306461"
] | null | null | [
"603478"
] | null | null | C19.019 | objectId:2428 | null | [
"3.4.19.12"
] | HGNC:12607 | [
"ENST00000339950.5",
"NM_003368.5"
] | HGNC:12607 | 591bb6a9-2148-4654-95bd-6a565f7eba46 | null | null |
HGNC:23177 | KEAP1 | kelch like ECH associated protein 1 | protein-coding gene | gene with protein product | Approved | 19p13.2 | [
"KIAA0132",
"MGC10630",
"MGC1114",
"MGC20887",
"MGC4407",
"MGC9454",
"INrf2",
"KLHL19"
] | [
"kelch-like family member 19"
] | null | null | [
"Kelch like",
"BTB domain containing"
] | [
617,
861
] | 2003-09-30 | null | 2015-11-23 | 2023-01-20 | 9817 | ENSG00000079999 | OTTHUMG00000180579 | uc002mor.2 | [
"AF361886"
] | [
"NM_012289"
] | [
"CCDS12239"
] | [
"Q14145"
] | null | [
"MGI:1858732"
] | [
"RGD:621619"
] | null | KEAP1 | [
"606016"
] | null | null | null | objectId:2757 | null | null | HGNC:23177 | [
"ENST00000171111.10",
"NM_203500.2"
] | HGNC:23177 | cf5bd1e5-c2a6-4408-9450-adb7a50232ce | null | null |
HGNC:25675 | CHMP6 | charged multivesicular body protein 6 | protein-coding gene | gene with protein product | Approved | 17q25.3 | [
"FLJ11749",
"VPS20"
] | null | null | [
"chromatin modifying protein 6"
] | [
"Charged multivesicular body proteins",
"ESCRT-III"
] | [
482,
1118
] | 2005-04-04 | null | 2011-09-21 | 2023-08-02 | 79643 | ENSG00000176108 | OTTHUMG00000177645 | uc002jyw.4 | [
"BC010108"
] | [
"NM_024591"
] | [
"CCDS11774"
] | [
"Q96FZ7"
] | [
11559748,
15511219
] | [
"MGI:3583942"
] | [
"RGD:1565325"
] | null | null | [
"610901"
] | null | null | null | null | null | null | HGNC:25675 | [
"ENST00000325167.9",
"NM_024591.5"
] | null | e54cdca4-022a-4460-b389-11112c6b3016 | null | null |
HGNC:29681 | SLC25A33 | solute carrier family 25 member 33 | protein-coding gene | gene with protein product | Approved | 1p36.22 | [
"MGC4399",
"BMSC-MCP",
"PNC1"
] | null | null | [
"solute carrier family 25, member 33",
"solute carrier family 25 (pyrimidine nucleotide carrier), member 33"
] | [
"Solute carrier family 25"
] | [
2176
] | 2006-09-21 | null | 2016-02-18 | 2023-01-20 | 84275 | ENSG00000171612 | OTTHUMG00000001322 | uc001apw.4 | [
"AF495714"
] | [
"NM_032315"
] | [
"CCDS103"
] | [
"Q9BSK2"
] | [
14715278,
16949250
] | [
"MGI:1917806"
] | [
"RGD:1583942"
] | null | null | [
"610816"
] | SLC25A33 | null | null | objectId:1084 | null | null | HGNC:29681 | [
"ENST00000302692.7",
"NM_032315.3"
] | null | 95af2e7d-6184-4790-bfd9-a69681b7a25d | null | null |
HGNC:18533 | USP48 | ubiquitin specific peptidase 48 | protein-coding gene | gene with protein product | Approved | 1p36.12 | [
"FLJ23277",
"FLJ11328",
"FLJ20103",
"FLJ23054",
"MGC14879"
] | null | [
"USP31"
] | [
"ubiquitin specific protease 31",
"ubiquitin specific protease 48"
] | [
"Ubiquitin specific peptidases"
] | [
366
] | 2003-05-29 | 2004-04-07 | 2005-08-08 | 2023-03-17 | 84196 | ENSG00000090686 | OTTHUMG00000007798 | uc001bfb.4 | [
"AF502942"
] | [
"NM_032236"
] | null | [
"Q86UV5"
] | [
12838346,
15354349
] | [
"MGI:2158502"
] | [
"RGD:735213"
] | null | null | [
"617445"
] | null | null | C19.068 | null | null | null | HGNC:18533 | [
"ENST00000308271.14",
"NM_032236.8"
] | HGNC:18533 | 4e0cddea-e0fa-4bff-ab58-b3e91c8c8bb2 | null | null |
HGNC:17233 | ELMO2 | engulfment and cell motility 2 | protein-coding gene | gene with protein product | Approved | 20q13.12 | [
"CED12",
"ELMO-2",
"CED-12",
"KIAA1834",
"FLJ11656"
] | null | null | [
"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"
] | [
"Engulfment and cell motility proteins"
] | [
543
] | 2001-12-13 | null | 2006-01-20 | 2023-01-20 | 63916 | ENSG00000062598 | OTTHUMG00000033070 | uc002xru.2 | [
"AF398886"
] | [
"NM_022086"
] | [
"CCDS13398",
"CCDS82623"
] | [
"Q96JJ3"
] | [
11595183
] | [
"MGI:2153045"
] | [
"RGD:1305784"
] | null | null | [
"606421"
] | null | 465,978 | null | null | null | null | HGNC:17233 | [
"ENST00000290246.11",
"NM_133171.5"
] | HGNC:17233 | 8df4ed04-328f-4ee0-a0b6-4920f02a368a | null | null |
HGNC:9588 | PTEN | phosphatase and tensin homolog | protein-coding gene | gene with protein product | Approved | 10q23.31 | [
"MMAC1",
"TEP1",
"PTEN1"
] | [
"mutated in multiple advanced cancers 1",
"Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN"
] | [
"BZS",
"MHAM"
] | null | [
"C2 tensin-type domain containing",
"PTEN protein phosphatases",
"Phosphoinositide phosphatases"
] | [
837,
902,
1079
] | 1997-04-21 | null | 2008-07-31 | 2023-11-09 | 5728 | ENSG00000171862 | OTTHUMG00000018688 | uc001kfb.4 | [
"U92436"
] | [
"NM_000314"
] | [
"CCDS31238"
] | [
"P60484"
] | [
9090379
] | [
"MGI:109583"
] | [
"RGD:61995"
] | [
"LRG_311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_311.xml"
] | PTEN | [
"601728"
] | null | 118,128 | null | objectId:2497 | null | [
"3.1.3.16",
"3.1.3.48",
"3.1.3.67"
] | HGNC:9588 | [
"ENST00000371953.8",
"NM_000314.8"
] | HGNC:9588 | 2f0f357d-a8fd-4e42-a808-05cfa3f0cfb3 | null | null |
HGNC:11998 | TP53 | tumor protein p53 | protein-coding gene | gene with protein product | Approved | 17p13.1 | [
"p53",
"LFS1"
] | [
"Li-Fraumeni syndrome"
] | null | null | null | null | 1986-01-01 | null | 2008-01-16 | 2023-01-20 | 7157 | ENSG00000141510 | OTTHUMG00000162125 | uc060aur.1 | [
"AF307851"
] | [
"NM_000546"
] | null | [
"P04637"
] | [
6396087,
3456488,
2047879
] | [
"MGI:98834"
] | [
"RGD:3889"
] | [
"IARC TP53 Mutation Database|http://www-p53.iarc.fr/",
"p53 UMD TP53 mutation database|http://p53.fr/",
"Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm",
"MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/",
"LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml"
] | TP53 | [
"191170"
] | null | 120,204 | null | null | null | null | HGNC:11998 | [
"ENST00000269305.9",
"NM_000546.6"
] | HGNC:11998 | e0978285-ce58-482d-9414-dc11d3bc3c3b | null | null |
HGNC:17485 | PPP2R3C | protein phosphatase 2 regulatory subunit B''gamma | protein-coding gene | gene with protein product | Approved | 14q13.2 | [
"FLJ20644",
"G4-1",
"G5PR"
] | null | [
"C14orf10"
] | [
"chromosome 14 open reading frame 10",
"protein phosphatase 2 (formerly 2A), regulatory subunit B''"
] | [
"Protein phosphatase 2 regulatory subunits"
] | [
696
] | 2002-11-18 | 2007-01-22 | 2017-04-05 | 2023-01-20 | 55012 | ENSG00000092020 | OTTHUMG00000140224 | uc001wss.4 | [
"AK000651"
] | [
"NM_017917"
] | [
"CCDS9654"
] | [
"Q969Q6"
] | [
12167160,
16129705
] | [
"MGI:1930009"
] | [
"RGD:1309207"
] | null | null | [
"615902"
] | null | null | null | null | null | null | HGNC:17485 | [
"ENST00000261475.10",
"NM_017917.4"
] | HGNC:17485 | 6b7d7a79-09a3-422a-9a56-c20d10926390 | null | null |
HGNC:7701 | NDUFB6 | NADH:ubiquinone oxidoreductase subunit B6 | protein-coding gene | gene with protein product | Approved | 9p21.1 | [
"B17",
"CI"
] | [
"NADH-ubiquinone oxidoreductase beta subunit, 6",
"NADH-ubiquinone oxidoreductase B17 subunit",
"complex I, mitochondrial respiratory chain, B17 subunit"
] | null | [
"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)",
"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa"
] | [
"NADH:ubiquinone oxidoreductase supernumerary subunits"
] | [
1150
] | 1997-12-09 | null | 2015-11-20 | 2023-01-20 | 4712 | ENSG00000165264 | OTTHUMG00000019741 | uc003zre.3 | [
"AF035840"
] | [
"NM_002493"
] | null | [
"O95139"
] | [
9763677,
9760212
] | [
"MGI:2684983"
] | [
"RGD:1311354"
] | null | null | [
"603322"
] | null | 470,752 | null | null | null | null | HGNC:7701 | [
"ENST00000379847.8",
"NM_002493.5"
] | null | 4cfddc82-5962-49a5-82d3-cb8d62e5adba | null | null |
HGNC:4163 | GART | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | protein-coding gene | gene with protein product | Approved | 21q22.11 | [
"GARS-AIRS-GART"
] | [
"GAR transformylase",
"glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase",
"Glycinamide ribonucleotide formyltransferase",
"Trifunctional purine biosynthetic protein adenosine-3"
] | [
"PRGS",
"PGFT"
] | null | [
"Purinosome"
] | [
1569
] | 2001-06-22 | null | null | 2023-01-20 | 2618 | ENSG00000159131 | OTTHUMG00000065628 | uc002yry.4 | [
"M32082"
] | [
"NM_000819"
] | null | [
"P22102"
] | [
2050105
] | [
"MGI:95654"
] | [
"RGD:1308717"
] | null | null | [
"138440"
] | null | null | null | objectId:2612 | null | [
"2.1.2.2",
"6.3.3.1",
"6.3.4.13"
] | HGNC:4163 | [
"ENST00000381815.9",
"NM_000819.5"
] | null | 7ef85e44-cf43-40b3-8e18-b17e0416e3d2 | null | null |
HGNC:28814 | TMCO6 | transmembrane and coiled-coil domains 6 | protein-coding gene | gene with protein product | Approved | 5q31.3 | [
"FLJ39769",
"PRO1580"
] | null | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2006-08-21 | null | null | 2023-01-20 | 55374 | ENSG00000113119 | OTTHUMG00000129497 | uc003lgl.4 | [
"BC001910"
] | [
"NM_018502"
] | [
"CCDS4233",
"CCDS75320"
] | [
"Q96DC7"
] | [
12477932
] | [
"MGI:1919233"
] | [
"RGD:1309263"
] | null | null | null | null | null | null | null | null | null | HGNC:28814 | [
"ENST00000394671.8",
"NM_018502.5"
] | null | 1e6a4dd2-4ca2-4632-8839-db83b3150204 | null | null |
HGNC:4670 | GTPBP2 | GTP binding protein 2 | protein-coding gene | gene with protein product | Approved | 6p21.1 | null | null | null | null | null | null | 2000-07-31 | null | null | 2023-01-20 | 54676 | ENSG00000172432 | OTTHUMG00000014744 | uc003ovs.5 | [
"AB024574"
] | [
"NM_001286216"
] | null | [
"Q9BX10"
] | [
10833435,
11054535
] | [
"MGI:1860138"
] | [
"RGD:1306367"
] | null | null | [
"607434"
] | null | null | null | null | null | null | HGNC:4670 | [
"ENST00000307126.10",
"NM_019096.5"
] | HGNC:4670 | d987dbca-8e52-4dad-a8ad-1619d19550ff | null | null |
HGNC:7765 | NF1 | neurofibromin 1 | protein-coding gene | gene with protein product | Approved | 17q11.2 | null | [
"neurofibromatosis",
"von Recklinghausen disease",
"Watson disease"
] | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 1986-01-01 | null | 2008-07-31 | 2023-01-20 | 4763 | ENSG00000196712 | OTTHUMG00000132871 | uc002hgh.3 | null | [
"NM_000267"
] | null | [
"P21359"
] | [
1715669
] | [
"MGI:97306"
] | [
"RGD:3168"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1",
"LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml"
] | NF1 | [
"613113"
] | null | 123,772 | null | null | null | null | HGNC:7765 | [
"ENST00000358273.9",
"NM_001042492.3"
] | HGNC:7765 | 9f7fb9b1-7284-4e41-9d37-0e153ef5b2dc | null | null |
HGNC:7880 | CNOT4 | CCR4-NOT transcription complex subunit 4 | protein-coding gene | gene with protein product | Approved | 7q33 | [
"CLONE243",
"NOT4H"
] | null | [
"NOT4"
] | [
"CCR4-NOT transcription complex, subunit 4"
] | [
"Ring finger proteins",
"RNA binding motif containing",
"CCR4-NOT transcription complex"
] | [
58,
725,
1023
] | 1996-07-19 | null | 2015-11-12 | 2023-01-20 | 4850 | ENSG00000080802 | OTTHUMG00000155568 | uc003vss.4 | [
"AF180475"
] | [
"NM_013316"
] | null | [
"O95628"
] | [
10637334,
18533727
] | [
"MGI:1859026"
] | [
"RGD:1310318"
] | null | null | [
"604911"
] | null | null | null | null | null | null | HGNC:7880 | [
"ENST00000541284.6",
"NM_001190850.2"
] | null | 95a23e0d-586c-4724-aeec-0d8ee426feda | null | null |
HGNC:17271 | RRAS2 | RAS related 2 | protein-coding gene | gene with protein product | Approved | 11p15.2 | [
"TC21"
] | null | null | [
"related RAS viral (r-ras) oncogene homolog 2"
] | [
"RAS type GTPase family"
] | [
389
] | 2001-11-30 | null | 2017-08-02 | 2023-01-20 | 22800 | ENSG00000133818 | OTTHUMG00000165756 | uc001mlf.5 | [
"M31468"
] | [
"NM_012250"
] | null | [
"P62070"
] | [
2108320,
8052619
] | [
"MGI:1914172"
] | [
"RGD:1310793"
] | null | RRAS2 | [
"600098"
] | null | null | null | null | null | null | HGNC:17271 | [
"ENST00000256196.9",
"NM_012250.6"
] | HGNC:17271 | a0303add-0a84-44de-9bb9-ac6e3f62670f | null | null |
HGNC:7705 | NDUFC1 | NADH:ubiquinone oxidoreductase subunit C1 | protein-coding gene | gene with protein product | Approved | 4q31.1 | [
"KFYI"
] | [
"complex I KFYI subunit"
] | null | [
"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)",
"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa"
] | [
"NADH:ubiquinone oxidoreductase supernumerary subunits"
] | [
1150
] | 1997-12-17 | null | 2015-11-20 | 2023-01-20 | 4717 | ENSG00000109390 | OTTHUMG00000133387 | uc021xsd.1 | [
"AF047184"
] | [
"NM_002494"
] | [
"CCDS3746"
] | [
"O43677"
] | [
9425316,
9763677
] | [
"MGI:1913627"
] | [
"RGD:1586362"
] | null | null | [
"603844"
] | null | 470,758 | null | null | null | null | HGNC:7705 | [
"ENST00000394223.2",
"NM_001184989.2"
] | null | ddb038fe-8068-4bd2-90d7-75b1782ea418 | null | null |
HGNC:30536 | DMAC1 | distal membrane arm assembly component 1 | protein-coding gene | gene with protein product | Approved | 9p24.1 | [
"MGC4730"
] | null | [
"C9orf123",
"TMEM261"
] | [
"chromosome 9 open reading frame 123",
"transmembrane protein 261",
"distal membrane arm assembly complex 1"
] | [
"Mitochondrial respiratory chain complex assembly factors"
] | [
645
] | 2004-04-15 | 2017-06-01 | 2021-02-05 | 2023-01-20 | 90871 | ENSG00000137038 | OTTHUMG00000019539 | null | [
"BC009510"
] | [
"NM_033428"
] | [
"CCDS34989"
] | [
"Q96GE9"
] | [
21666724,
27626371
] | [
"MGI:1914178"
] | [
"RGD:1309148"
] | null | null | [
"617261"
] | null | null | null | null | null | null | HGNC:30536 | [
"ENST00000358227.5",
"NM_033428.3"
] | null | 27b562f3-2be5-4dcb-b8e0-2dfb0a19c9e3 | null | null |
HGNC:25223 | COQ2 | coenzyme Q2, polyprenyltransferase | protein-coding gene | gene with protein product | Approved | 4q21.23 | [
"CL640",
"FLJ26072"
] | [
"4-hydroxybenzoate polyprenyltransferase"
] | null | [
"coenzyme Q2 homolog, prenyltransferase (yeast)"
] | null | null | 2005-07-05 | null | 2016-03-21 | 2023-01-20 | 27235 | ENSG00000173085 | OTTHUMG00000160940 | uc003hog.3 | null | [
"NM_015697"
] | [
"CCDS47090",
"CCDS87234"
] | [
"Q96H96"
] | [
15153069,
17332895
] | [
"MGI:1919133"
] | [
"RGD:1306722"
] | null | null | [
"609825"
] | null | 120,770 | null | null | null | [
"2.5.1.39"
] | HGNC:25223 | [
"ENST00000647002.2",
"NM_001358921.2"
] | HGNC:25223 | f0f51982-f687-496e-8be8-b6502caf9a12 | null | null |
HGNC:9438 | PRKRA | protein activator of interferon induced protein kinase EIF2AK2 | protein-coding gene | gene with protein product | Approved | 2q31.2 | [
"PACT",
"RAX",
"HSD14",
"DYT16"
] | [
"protein activator of the interferon-induced protein kinase",
"PKR-associated protein X"
] | null | [
"protein kinase, interferon-inducible double stranded RNA dependent activator"
] | [
"RISC loading complex subunits"
] | [
1776
] | 1999-12-07 | null | 2016-01-06 | 2023-05-10 | 8575 | ENSG00000180228 | OTTHUMG00000132576 | uc002umf.3 | [
"AF072860"
] | [
"NM_003690"
] | null | [
"O75569"
] | [
9687506,
10336432
] | [
"MGI:1344375"
] | [
"RGD:1306707"
] | null | null | [
"603424"
] | null | 213,048 | null | null | null | null | HGNC:9438 | [
"ENST00000325748.9",
"NM_003690.5"
] | HGNC:9438 | 40d55a43-5513-4652-b997-ac272412633b | null | null |
HGNC:3585 | FANCD2 | FA complementation group D2 | protein-coding gene | gene with protein product | Approved | 3p25.3 | [
"FAD",
"FA-D2"
] | null | [
"FACD",
"FANCD"
] | [
"Fanconi anemia complementation group D2"
] | [
"FA complementation groups",
"Armadillo like helical domain containing"
] | [
548,
1492
] | 1996-01-04 | 2001-10-05 | 2018-05-09 | 2023-01-20 | 2177 | ENSG00000144554 | OTTHUMG00000128670 | uc003buw.4 | [
"AF340183"
] | [
"NM_001018115"
] | [
"CCDS2595",
"CCDS33696"
] | [
"Q9BXW9"
] | [
7581463,
11239453,
18475298
] | [
"MGI:2448480"
] | [
"RGD:1303172"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2",
"LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml"
] | FANCD2 | [
"613984"
] | null | 121,709 | null | null | null | null | HGNC:3585 | [
"ENST00000675286.1",
"NM_001018115.3"
] | HGNC:3585 | 3bdabdbb-31ef-43be-82f3-4a60761d76c5 | null | null |
HGNC:6397 | KPNA4 | karyopherin subunit alpha 4 | protein-coding gene | gene with protein product | Approved | 3q25.33 | [
"QIP1",
"SRP3",
"IPOA3",
"MGC12217",
"MGC26703"
] | [
"importin alpha 3"
] | null | [
"karyopherin alpha 4 (importin alpha 3)",
"karyopherin alpha 4"
] | [
"Armadillo repeat containing",
"Importins"
] | [
409,
596
] | 1998-08-20 | null | 2016-02-01 | 2023-01-20 | 3840 | ENSG00000186432 | OTTHUMG00000159033 | uc003fdn.3 | [
"AB002533"
] | [
"NM_002268"
] | [
"CCDS3191"
] | [
"O00629"
] | [
9168958,
9395085
] | [
"MGI:1100848"
] | [
"RGD:1311483"
] | null | null | [
"602970"
] | null | null | null | null | null | null | HGNC:6397 | [
"ENST00000334256.9",
"NM_002268.5"
] | null | 557135d0-0184-4058-8335-5e9b10756bb4 | null | null |
HGNC:9352 | PRDX1 | peroxiredoxin 1 | protein-coding gene | gene with protein product | Approved | 1p34.1 | [
"NKEFA"
] | null | [
"PAGA"
] | null | [
"Peroxiredoxins"
] | [
953
] | 1993-11-01 | null | null | 2023-01-20 | 5052 | ENSG00000117450 | OTTHUMG00000007738 | uc001cob.4 | [
"BC021683"
] | [
"NM_181697"
] | [
"CCDS522"
] | [
"Q06830"
] | [
8496166
] | [
"MGI:99523"
] | [
"RGD:620039"
] | null | null | [
"176763"
] | null | null | null | null | null | null | HGNC:9352 | [
"ENST00000319248.13",
"NM_181697.3"
] | HGNC:9352 | dae0cb94-2fca-4a53-b287-2e4b22ee8818 | null | null |
HGNC:22408 | ATG9A | autophagy related 9A | protein-coding gene | gene with protein product | Approved | 2q35 | [
"FLJ22169"
] | null | [
"APG9L1"
] | [
"APG9 autophagy 9-like 1 (S. cerevisiae)",
"ATG9 autophagy related 9 homolog A (S. cerevisiae)"
] | [
"Autophagy related"
] | [
1022
] | 2004-11-24 | 2005-09-11 | 2012-06-06 | 2023-07-17 | 79065 | ENSG00000198925 | OTTHUMG00000154557 | uc002vkf.3 | [
"AK021732"
] | [
"NM_024085"
] | [
"CCDS42820"
] | [
"Q7Z3C6"
] | [
29180427,
33106659
] | [
"MGI:2138446"
] | [
"RGD:1310450"
] | null | null | [
"612204"
] | null | null | null | null | null | null | HGNC:22408 | [
"ENST00000361242.9",
"NM_001077198.3"
] | null | d62e0fb7-e1f4-40e7-81d3-c7079955dc74 | null | null |
HGNC:1748 | CDH1 | cadherin 1 | protein-coding gene | gene with protein product | Approved | 16q22.1 | [
"uvomorulin",
"CD324"
] | [
"E-Cadherin"
] | [
"UVO"
] | [
"cadherin 1, type 1, E-cadherin (epithelial)"
] | [
"CD molecules",
"Type I classical cadherins"
] | [
471,
1185
] | 1986-01-01 | null | 2016-01-15 | 2023-01-20 | 999 | ENSG00000039068 | OTTHUMG00000137561 | uc002ewg.2 | [
"L08599"
] | [
"NM_004360"
] | null | [
"P12830"
] | [
9925936
] | [
"MGI:88354"
] | [
"RGD:69279"
] | [
"LRG_301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_301.xml"
] | CDH1 | [
"192090"
] | null | 119,276 | null | null | CD324 | null | HGNC:1748 | [
"ENST00000261769.10",
"NM_004360.5"
] | HGNC:1748 | ed200e21-6dd4-46d1-b1f1-0817b32a884c | null | [
"This entry has the approved symbol CDH1 which is also an alias symbol for the unrelated gene [FZR1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24824)."
] |
HGNC:20294 | USPL1 | ubiquitin specific peptidase like 1 | protein-coding gene | gene with protein product | Approved | 13q12.3 | [
"bA121O19.1",
"D13S106E"
] | null | [
"C13orf22"
] | [
"chromosome 13 open reading frame 22"
] | [
"Ubiquitin specific peptidases",
"Ubiquitin specific peptidase like "
] | [
366,
988
] | 2004-04-16 | 2005-11-24 | 2005-11-24 | 2024-03-15 | 10208 | ENSG00000132952 | OTTHUMG00000016675 | uc001utc.3 | [
"X59131"
] | [
"NM_005800"
] | null | [
"Q5W0Q7"
] | [
22878415,
24413172,
35383180
] | [
"MGI:2442342"
] | [
"RGD:1310835"
] | null | null | [
"617470"
] | null | null | null | null | null | null | HGNC:20294 | [
"ENST00000255304.9",
"NM_005800.5"
] | null | 7047f585-00e3-494c-8d44-8741f897e20c | null | null |
HGNC:2495 | CTBP2 | C-terminal binding protein 2 | protein-coding gene | gene with protein product | Approved | 10q26.13 | [
"ribeye"
] | null | null | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 1997-08-22 | null | null | 2023-01-20 | 1488 | ENSG00000175029 | OTTHUMG00000019224 | uc009yal.4 | [
"AF016507"
] | [
"NM_001083914"
] | null | [
"P56545"
] | [
9479502,
11864595
] | [
"MGI:1201686"
] | [
"RGD:68372"
] | null | null | [
"602619"
] | null | null | null | null | null | null | HGNC:2495 | [
"ENST00000337195.11",
"NM_001329.4"
] | null | 86798954-841e-4a6f-aa9b-c18457e3c861 | null | null |
HGNC:5961 | IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | protein-coding gene | gene with protein product | Approved | Xq28 | [
"IKK-gamma",
"NEMO",
"Fip3p",
"FIP-3",
"FIP3",
"ZC2HC9",
"IKKAP1",
"IKKG"
] | [
"NF-kappa-B essential modulator",
"IkB kinase-associated protein 1",
"I-kappa-B kinase subunit gamma",
"IkB kinase subunit gamma",
"14.7K (adenovirus E3 protein) interacting protein 3"
] | [
"IP2",
"IP1"
] | [
"incontinentia pigmenti",
"inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma",
"inhibitor of nuclear factor kappa B kinase subunit gamma"
] | [
"Zinc fingers C2HC-type",
"IKK complex"
] | [
66,
1817
] | 1998-09-30 | null | 2019-02-14 | 2023-01-20 | 8517 | ENSG00000269335 | OTTHUMG00000024234 | uc033fbv.2 | [
"AF074382"
] | [
"NM_003639"
] | null | [
"Q9Y6K9"
] | [
9751060,
10087442,
11590134,
11242109
] | [
"MGI:1338074"
] | [
"RGD:735223"
] | [
"IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG",
"LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml"
] | null | [
"300248"
] | null | 122,614 | null | null | null | null | HGNC:5961 | [
"ENST00000594239.6",
"NM_001099857.5"
] | HGNC:5961 | aaf41256-6bd8-4f34-937c-703cc3b0719d | null | null |
HGNC:29088 | PDS5A | PDS5 cohesin associated factor A | protein-coding gene | gene with protein product | Approved | 4p14 | [
"KIAA0648",
"PIG54",
"SCC-112"
] | null | null | [
"PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)"
] | [
"Armadillo like helical domain containing"
] | [
1492
] | 2007-06-20 | null | 2014-11-17 | 2023-03-15 | 23244 | ENSG00000121892 | OTTHUMG00000160582 | uc003guv.4 | [
"AF294791"
] | [
"NM_015200"
] | [
"CCDS47045",
"CCDS54759"
] | [
"Q29RF7"
] | [
11076961,
15855230,
24141881
] | [
"MGI:1918771"
] | [
"RGD:1307094"
] | null | null | [
"613200"
] | null | 470,848 | null | null | null | null | HGNC:29088 | [
"ENST00000303538.13",
"NM_001100399.2"
] | null | 57a892dc-5464-4cfc-9924-2e9b7c5fec92 | null | null |
HGNC:3581 | BPTF | bromodomain PHD finger transcription factor | protein-coding gene | gene with protein product | Approved | 17q24.2 | [
"FAC1",
"NURF301"
] | null | [
"FALZ"
] | [
"fetal Alzheimer antigen"
] | [
"PHD finger proteins",
"Bromodomain containing",
"NURF complex"
] | [
88,
1232,
1363
] | 1996-10-30 | 2006-12-01 | 2006-12-01 | 2023-01-20 | 2186 | ENSG00000171634 | OTTHUMG00000132254 | uc002jgf.4 | [
"AY282495"
] | [
"NM_182641",
"NM_004459"
] | [
"CCDS11673"
] | [
"Q12830"
] | [
8975731,
10662542,
16728976
] | [
"MGI:2444008"
] | [
"RGD:1307039"
] | null | null | [
"601819"
] | null | null | null | objectId:2723 | null | null | HGNC:3581 | [
"ENST00000306378.11",
"NM_182641.4"
] | HGNC:3581 | 2c7f1ac2-490e-47bc-a10e-e6c97401abd2 | null | null |
HGNC:20473 | BRIP1 | BRCA1 interacting DNA helicase 1 | protein-coding gene | gene with protein product | Approved | 17q23.2 | [
"OF",
"BACH1",
"FANCJ"
] | [
"BRCA1/BRCA2-associated helicase 1",
"FANCJ helicase",
"BRCA1-associated C-terminal helicase",
"BRCA1 interacting protein 1"
] | null | [
"BRCA1 interacting helicase 1",
"BRCA1 interacting protein C-terminal helicase 1"
] | [
"DEAH-box helicases",
"FA complementation groups",
"BRCA1 B complex"
] | [
500,
548,
1335
] | 2003-04-11 | null | 2024-09-05 | 2024-09-05 | 83990 | ENSG00000136492 | OTTHUMG00000179233 | uc002izk.3 | [
"AF360549"
] | [
"NM_032043"
] | [
"CCDS11631"
] | [
"Q9BX63"
] | [
11595410,
11301010
] | [
"MGI:2442836"
] | [
"RGD:1307659"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCJ",
"LRG_300|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_300.xml"
] | BRIP1 | [
"605882"
] | null | 119,080 | null | null | null | null | HGNC:20473 | [
"ENST00000259008.7",
"NM_032043.3"
] | HGNC:20473 | 4d16db18-b95a-4dd5-b3fe-843c20923303 | null | [
"This entry has the alias symbol BACH1 which is also the approved symbol for the unrelated gene [BACH1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:935)"
] |
HGNC:16356 | USH1G | USH1 protein network component sans | protein-coding gene | gene with protein product | Approved | 17q25.1 | [
"Sans",
"FLJ33924",
"ANKS4A"
] | null | null | [
"Usher syndrome 1G (autosomal recessive)"
] | [
"Ankyrin repeat domain containing",
"Sterile alpha motif domain containing"
] | [
403,
760
] | 2001-12-07 | null | 2016-02-17 | 2023-01-20 | 124590 | ENSG00000182040 | OTTHUMG00000178864 | uc032fra.2 | [
"AK091243"
] | [
"NM_173477"
] | [
"CCDS32725"
] | [
"Q495M9"
] | [
12588794
] | [
"MGI:2450757"
] | [
"RGD:1304551"
] | [
"CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G",
"LRG_1416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1416.xml"
] | null | [
"607696"
] | null | 120,442 | null | null | null | null | HGNC:16356 | [
"ENST00000614341.5",
"NM_173477.5"
] | HGNC:16356 | 9b1a4f34-dce9-4875-9191-cf024111b5c9 | null | null |
HGNC:25522 | WRAP53 | WD repeat containing antisense to TP53 | protein-coding gene | gene with protein product | Approved | 17p13.1 | [
"FLJ10385",
"TCAB1"
] | [
"telomerase cajal body protein 1",
"WD-encoding RNA antisense to p53"
] | [
"WDR79"
] | [
"WD repeat domain 79",
"WD repeat containing, antisense to TP53"
] | [
"WD repeat domain containing"
] | [
362
] | 2005-08-12 | 2009-02-16 | 2016-04-25 | 2023-01-20 | 55135 | ENSG00000141499 | OTTHUMG00000134323 | uc010vuh.2 | [
"AK001247",
"DQ431240"
] | [
"NM_018081"
] | [
"CCDS11119"
] | [
"Q9BUR4"
] | [
19179534,
19250907,
19571673,
19342896,
20494116,
21441950
] | [
"MGI:2384933"
] | [
"RGD:1359624"
] | [
"LRG_375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_375.xml"
] | null | [
"612661"
] | null | 266,162 | null | null | null | null | HGNC:25522 | [
"ENST00000396463.7",
"NM_001143992.2"
] | HGNC:25522 | 956e0fc3-76d8-4b08-b166-94ce7b8b1b7b | null | null |
HGNC:10681 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | protein-coding gene | gene with protein product | Approved | 1p36.13 | null | [
"iron-sulfur subunit of complex II",
"succinate dehydrogenase [ubiquinone] iron-sulfur subunit"
] | [
"SDH1",
"SDH"
] | [
"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",
"succinate dehydrogenase complex subunit B, iron sulfur (Ip)"
] | [
"Mitochondrial complex II: succinate dehydrogenase subunits"
] | [
641
] | 2001-06-22 | null | 2016-01-28 | 2023-01-20 | 6390 | ENSG00000117118 | OTTHUMG00000002289 | uc001bae.5 | [
"U17248"
] | [
"NM_003000"
] | [
"CCDS176"
] | [
"P21912"
] | null | [
"MGI:1914930"
] | [
"RGD:1308598"
] | [
"SDHB @ LOVD|http://www.LOVD.nl/SDHB",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHB",
"LRG_316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_316.xml"
] | SDHB | [
"185470"
] | null | 118,554 | null | null | null | [
"1.3.99.1"
] | HGNC:10681 | [
"ENST00000375499.8",
"NM_003000.3"
] | HGNC:10681 | ec70da14-9860-4a86-a9ff-cb8c76134b63 | null | null |
HGNC:25009 | UBE2T | ubiquitin conjugating enzyme E2 T | protein-coding gene | gene with protein product | Approved | 1q32.1 | [
"HSPC150",
"FANCT"
] | null | null | [
"ubiquitin-conjugating enzyme E2T"
] | [
"Ubiquitin conjugating enzymes E2",
"FA complementation groups"
] | [
102,
548
] | 2005-03-21 | null | 2016-03-14 | 2023-01-20 | 29089 | ENSG00000077152 | OTTHUMG00000041392 | uc001gxx.5 | [
"AF161499"
] | [
"NM_014176"
] | [
"CCDS1425"
] | [
"Q9NPD8"
] | [
11042152,
16916645,
26046368
] | [
"MGI:1914446"
] | [
"RGD:1310816"
] | [
"LRG_1169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1169.xml"
] | null | [
"610538"
] | null | 432,157 | null | null | null | null | HGNC:25009 | [
"ENST00000646651.1",
"NM_014176.4"
] | HGNC:25009 | 61086eaa-b2c9-481d-9e82-e2453928b135 | null | null |
HGNC:30064 | PBRM1 | polybromo 1 | protein-coding gene | gene with protein product | Approved | 3p21.1 | [
"BAF180",
"PB1",
"SMARCH1"
] | null | null | null | [
"Bromodomain containing",
"PBAF complex subunits"
] | [
1232,
1605
] | 2007-03-29 | null | null | 2023-01-20 | 55193 | ENSG00000163939 | OTTHUMG00000152663 | uc003des.3 | [
"BC015323"
] | [
"NM_018165"
] | null | [
"Q86U86"
] | [
11078522,
11483580
] | [
"MGI:1923998"
] | [
"RGD:1565549"
] | null | PBRM1 | [
"606083"
] | null | 434,716 | null | objectId:2738 | null | null | HGNC:30064 | [
"ENST00000707071.1",
"NM_001405607.1"
] | null | a7a5adfd-bb04-4454-9bae-abcb2d299e18 | null | null |
HGNC:30298 | UIMC1 | ubiquitin interaction motif containing 1 | protein-coding gene | gene with protein product | Approved | 5q35.2 | [
"RAP80"
] | [
"receptor associated protein 80"
] | null | null | [
"BRCA1 A complex"
] | [
1328
] | 2006-10-27 | null | null | 2023-01-20 | 51720 | ENSG00000087206 | OTTHUMG00000130852 | uc063kao.1 | [
"AF349313"
] | [
"NM_016290"
] | [
"CCDS4408",
"CCDS83050"
] | [
"Q96RL1"
] | [
12080054,
19015238
] | [
"MGI:103185"
] | [
"RGD:1307009"
] | null | null | [
"609433"
] | null | null | null | null | null | null | HGNC:30298 | [
"ENST00000511320.6",
"NM_001199298.2"
] | HGNC:30298 | c65f2545-628a-4b28-957d-c2ad01415dc4 | null | null |
HGNC:25628 | DDX19A | DEAD-box helicase 19A | protein-coding gene | gene with protein product | Approved | 16q22.1 | [
"FLJ11126"
] | null | [
"DDX19L"
] | [
"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like",
"DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A"
] | [
"DEAD-box helicases"
] | [
499
] | 2004-11-03 | 2005-07-13 | 2016-01-07 | 2023-01-20 | 55308 | ENSG00000168872 | OTTHUMG00000137579 | uc002eyv.4 | [
"AF183422"
] | [
"NM_018332"
] | [
"CCDS10889",
"CCDS82009"
] | [
"Q9NUU7"
] | [
26538395
] | [
"MGI:99526"
] | [
"RGD:1303136"
] | null | null | null | null | null | null | null | null | null | HGNC:25628 | [
"ENST00000302243.12",
"NM_018332.5"
] | null | bbecc48f-1c66-4a76-a364-f1a2152f9faf | null | null |
HGNC:18037 | ARID2 | AT-rich interaction domain 2 | protein-coding gene | gene with protein product | Approved | 12q12 | [
"KIAA1557",
"DKFZp686G052",
"FLJ30619",
"BAF200",
"SMARCF3",
"ZIPZAP",
"p200"
] | null | null | [
"AT rich interactive domain 2 (ARID, RFX-like)"
] | [
"AT-rich interaction domain containing",
"Armadillo like helical domain containing",
"PBAF complex subunits"
] | [
418,
1492,
1605
] | 2004-01-28 | null | 2015-11-17 | 2023-07-12 | 196528 | ENSG00000189079 | OTTHUMG00000150487 | uc001ros.2 | [
"DQ096628"
] | [
"NM_152641"
] | [
"CCDS31783"
] | [
"Q68CP9"
] | [
16782067,
21822264,
22184115
] | [
"MGI:1924294"
] | [
"RGD:1311105"
] | null | ARID2 | [
"609539"
] | null | 469,962 | null | null | null | null | HGNC:18037 | [
"ENST00000334344.11",
"NM_152641.4"
] | HGNC:18037 | 3424ec6a-36b4-40b5-bb03-75313a4fc445 | null | null |
HGNC:15531 | EBNA1BP2 | EBNA1 binding protein 2 | protein-coding gene | gene with protein product | Approved | 1p34.2 | [
"NOBP",
"EBP2",
"P40"
] | null | null | [
"EBNA1-binding protein 2"
] | [
"MicroRNA protein coding host genes"
] | [
1691
] | 2001-10-16 | null | 2001-11-28 | 2023-01-20 | 10969 | ENSG00000117395 | OTTHUMG00000007284 | uc001cin.4 | [
"U86602"
] | [
"NM_001159936"
] | [
"CCDS478",
"CCDS53308"
] | [
"Q99848"
] | [
10074103,
11438656
] | [
"MGI:1916322"
] | [
"RGD:1305762"
] | null | null | [
"614443"
] | null | null | null | null | null | null | HGNC:15531 | [
"ENST00000236051.3",
"NM_006824.3"
] | null | f1c19122-8546-4bba-9a35-b0e64c780cff | null | null |
HGNC:950 | BAP1 | BRCA1 associated deubiquitinase 1 | protein-coding gene | gene with protein product | Approved | 3p21.1 | [
"hucep-6",
"KIAA0272",
"UCHL2"
] | [
"ubiquitin carboxy-terminal hydrolase L2"
] | null | [
"BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)",
"BRCA1 associated protein 1"
] | [
"Ubiquitin C-terminal hydrolases"
] | [
998
] | 1998-09-17 | null | 2024-07-04 | 2024-07-04 | 8314 | ENSG00000163930 | OTTHUMG00000158392 | uc003ddx.5 | [
"AF045581"
] | [
"NM_001410772"
] | [
"CCDS2853",
"CCDS93284"
] | [
"Q92560"
] | [
9528852,
19117993,
37009801
] | [
"MGI:1206586"
] | [
"RGD:1311938"
] | [
"LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml"
] | BAP1 | [
"603089"
] | null | 289,543 | C12.004 | objectId:2332 | null | [
"3.4.19.12"
] | HGNC:950 | [
"ENST00000460680.6",
"NM_004656.4"
] | HGNC:950 | 7892f77f-9288-4878-86e0-14be27a6981c | null | [
"This entry has the approved symbol BAP1 which is also an alias symbol for the unrelated genes [MAGI1](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:946) and [RNF2](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10061)"
] |
HGNC:18380 | BZW1 | basic leucine zipper and W2 domains 1 | protein-coding gene | gene with protein product | Approved | 2q33.1 | [
"BZAP45",
"KIAA0005",
"5MP2"
] | [
"eIF5-mimic protein 2"
] | null | null | null | null | 2002-08-05 | null | null | 2023-01-20 | 9689 | ENSG00000082153 | OTTHUMG00000154560 | uc002uwc.4 | [
"D13630"
] | [
"NM_014670"
] | null | [
"Q7L1Q6"
] | [
10964520,
11524015,
27325740,
29470543
] | [
"MGI:1914132"
] | [
"RGD:735129"
] | null | null | [
"619252"
] | null | null | null | null | null | null | HGNC:18380 | [
"ENST00000409600.6",
"NM_001207067.2"
] | null | 4dafb471-6cd6-4393-b1f0-247bcfb8221c | null | null |
HGNC:13516 | BIRC6 | baculoviral IAP repeat containing 6 | protein-coding gene | gene with protein product | Approved | 2p22.3 | [
"BRUCE"
] | [
"apollon"
] | null | [
"baculoviral IAP repeat-containing 6"
] | [
"Ubiquitin conjugating enzymes E2",
"Baculoviral IAP repeat containing",
"MicroRNA protein coding host genes"
] | [
102,
419,
1691
] | 2000-09-19 | null | 2011-01-25 | 2023-01-20 | 57448 | ENSG00000115760 | OTTHUMG00000150528 | uc010ezu.4 | [
"AF265555"
] | [
"NM_016252"
] | [
"CCDS33175"
] | [
"Q9NR09"
] | [
10544019
] | [
"MGI:1276108"
] | [
"RGD:1307247"
] | null | null | [
"605638"
] | null | null | I32.006 | objectId:2796 | null | null | HGNC:13516 | [
"ENST00000421745.7",
"NM_016252.4"
] | null | 2f1f1ebe-bf06-4ac2-89d7-34fc2c1ee83b | null | null |
HGNC:18329 | YPEL5 | yippee like 5 | protein-coding gene | gene with protein product | Approved | 2p23.1 | [
"CGI-127"
] | null | null | [
"yippee-like 5 (Drosophila)"
] | [
"Yippee like family"
] | [
1130
] | 2004-06-28 | null | 2015-11-05 | 2023-01-20 | 51646 | ENSG00000119801 | OTTHUMG00000097839 | uc002rna.5 | [
"AF135161"
] | [
"NM_016061"
] | [
"CCDS1771"
] | [
"P62699"
] | [
15556292
] | [
"MGI:1916937"
] | [
"RGD:1309657"
] | null | null | [
"609726"
] | null | null | null | null | null | null | HGNC:18329 | [
"ENST00000261353.9",
"NM_016061.3"
] | null | aa2a0171-72f1-40aa-a49c-f7d8352b96a0 | null | null |
HGNC:18752 | MAPKAP1 | MAPK associated protein 1 | protein-coding gene | gene with protein product | Approved | 9q33.3 | [
"MGC2745",
"SIN1",
"MIP1"
] | [
"stress-activated protein kinase-interacting 1"
] | null | [
"mitogen-activated protein kinase associated protein 1"
] | [
"MTOR complex 2"
] | [
1333
] | 2002-07-19 | null | 2019-04-12 | 2023-01-20 | 79109 | ENSG00000119487 | OTTHUMG00000020683 | uc004bpv.3 | [
"M37191"
] | [
"NM_001006617"
] | null | [
"Q9BPZ7"
] | [
15363842
] | [
"MGI:2444554"
] | [
"RGD:1305363"
] | null | null | [
"610558"
] | null | null | null | null | null | null | HGNC:18752 | [
"ENST00000265960.8",
"NM_001006617.3"
] | null | 02f8804d-e59d-4231-9bf9-53a26e06191c | null | null |
HGNC:2867 | DHODH | dihydroorotate dehydrogenase (quinone) | protein-coding gene | gene with protein product | Approved | 16q22.2 | null | null | null | [
"dihydroorotate dehydrogenase"
] | [
"Flavoproteins"
] | [
2258
] | 1993-06-29 | null | 2011-09-05 | 2023-01-20 | 1723 | ENSG00000102967 | OTTHUMG00000178093 | uc002fbp.4 | null | [
"NM_001361"
] | [
"CCDS42192"
] | [
"Q02127"
] | [
8211381
] | [
"MGI:1928378"
] | [
"RGD:68352"
] | null | null | [
"126064"
] | null | 225,386 | null | objectId:2604 | null | [
"1.3.5.2"
] | HGNC:2867 | [
"ENST00000219240.9",
"NM_001361.5"
] | HGNC:2867 | e902248d-33d9-4655-a763-3860521e0c4e | null | null |
HGNC:28349 | RMI2 | RecQ mediated genome instability 2 | protein-coding gene | gene with protein product | Approved | 16p13.13 | [
"MGC24665",
"BLAP18"
] | null | [
"C16orf75"
] | [
"chromosome 16 open reading frame 75",
"RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"
] | null | null | 2006-07-04 | 2011-06-09 | 2013-06-10 | 2023-01-20 | 116028 | ENSG00000175643 | OTTHUMG00000129793 | uc059quq.1 | [
"AK123764"
] | [
"NM_152308"
] | [
"CCDS10548"
] | [
"Q96E14"
] | [
18923083,
20826341
] | [
"MGI:2685383"
] | [
"RGD:1563163"
] | null | RMI2 | [
"612426"
] | null | null | null | null | null | null | HGNC:28349 | [
"ENST00000312499.6",
"NM_152308.3"
] | null | 5e23b446-d355-4a95-9899-faadd6fefcce | null | null |
HGNC:11427 | STUB1 | STIP1 homology and U-box containing protein 1 | protein-coding gene | gene with protein product | Approved | 16p13.3 | [
"UBOX1",
"CHIP",
"SDCCAG7",
"HSPABP2",
"NY-CO-7"
] | null | null | null | [
"U-box domain containing",
"Tetratricopeptide repeat domain containing"
] | [
365,
769
] | 1999-11-25 | null | 2016-03-23 | 2023-01-20 | 10273 | ENSG00000103266 | OTTHUMG00000121140 | uc002cit.4 | [
"AF039689"
] | [
"NM_005861"
] | [
"CCDS10419",
"CCDS76797"
] | [
"Q9UNE7"
] | [
10330192,
9610721
] | [
"MGI:1891731"
] | [
"RGD:1306167"
] | null | null | [
"607207"
] | null | 395,106 | null | objectId:3202 | null | null | HGNC:11427 | [
"ENST00000219548.9",
"NM_005861.4"
] | HGNC:11427 | e3e1e1d8-561d-493b-af33-857043aa16dc | null | null |
HGNC:7773 | NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | protein-coding gene | gene with protein product | Approved | 22q12.2 | [
"merlin",
"ACN",
"SCH",
"BANF",
"merlin-1"
] | [
"moesin-ezrin-radixin like",
"schwannomin",
"bilateral acoustic neurofibromatosis"
] | null | [
"neurofibromin 2 (bilateral acoustic neuroma)",
"neurofibromin 2 (merlin)"
] | [
"A-kinase anchoring proteins",
"FERM domain containing"
] | [
396,
1293
] | 1992-01-01 | null | 2021-10-07 | 2023-03-15 | 4771 | ENSG00000186575 | OTTHUMG00000030727 | uc003age.5 | [
"L11353"
] | [
"NM_000268"
] | null | [
"P35240"
] | [
10591208
] | [
"MGI:97307"
] | [
"RGD:3169"
] | [
"Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/",
"LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml"
] | NF2 | [
"607379"
] | null | 123,774 | null | null | null | null | HGNC:7773 | [
"ENST00000338641.10",
"NM_000268.4"
] | HGNC:7773 | c1330781-7b55-4cd0-9aee-402272bb9d0f | null | null |