hgnc_id
string | symbol
string | name
string | locus_group
string | locus_type
string | status
string | location
string | alias_symbol
list | alias_name
list | prev_symbol
list | prev_name
list | gene_group
list | gene_group_id
list | 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
list | refseq_accession
list | ccds_id
list | uniprot_ids
list | pubmed_id
list | mgd_id
list | rgd_id
list | lsdb
list | cosmic
string | omim_id
list | bioparadigms_slc
string | orphanet
float64 | merops
string | iuphar
string | cd
string | enzyme_id
list | agr
string | mane_select
list | gencc
string | uuid
string | rna_central_id
list | curator_notes
list |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |
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