identifier
stringlengths 31
33
| gene_symbol
stringlengths 3
8
| name
stringlengths 10
122
| entrez_url
stringlengths 35
38
| ensembl_url
stringlengths 46
46
| uniprot_url
stringlengths 37
37
| iuphar_url
stringlengths 74
75
⌀ | kegg_url
stringlengths 41
44
| omim_url
stringlengths 23
29
| orphanet_url
stringlengths 35
41
| location
stringlengths 4
12
|
|---|---|---|---|---|---|---|---|---|---|---|
http://identifiers.org/hgnc/12441
|
TYMS
|
thymidylate synthetase
|
http://identifiers.org/ncbigene/7298
|
http://identifiers.org/ensembl/ENSG00000176890
|
http://identifiers.org/uniprot/P04818
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2642
|
http://identifiers.org/kegg.genes/hsa:7298
|
https://omim.org/entry/188350
|
http://www.orpha.net/ORDO/Orphanet_241969
|
18p11.32
|
http://identifiers.org/hgnc/7765
|
NF1
|
neurofibromin 1
|
http://identifiers.org/ncbigene/4763
|
http://identifiers.org/ensembl/ENSG00000196712
|
http://identifiers.org/uniprot/P21359
| null |
http://identifiers.org/kegg.genes/hsa:4763
|
https://omim.org/entry/613113
|
http://www.orpha.net/ORDO/Orphanet_123772
|
17q11.2
|
http://identifiers.org/hgnc/7773
|
NF2
|
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
|
http://identifiers.org/ncbigene/4771
|
http://identifiers.org/ensembl/ENSG00000186575
|
http://identifiers.org/uniprot/P35240
| null |
http://identifiers.org/kegg.genes/hsa:4771
|
https://omim.org/entry/607379
|
http://www.orpha.net/ORDO/Orphanet_123774
|
22q12.2
|
http://identifiers.org/hgnc/30064
|
PBRM1
|
polybromo 1
|
http://identifiers.org/ncbigene/55193
|
http://identifiers.org/ensembl/ENSG00000163939
|
http://identifiers.org/uniprot/Q86U86
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2738
|
http://identifiers.org/kegg.genes/hsa:55193
|
https://omim.org/entry/606083
|
http://www.orpha.net/ORDO/Orphanet_434716
|
3p21.1
|
http://identifiers.org/hgnc/9588
|
PTEN
|
phosphatase and tensin homolog
|
http://identifiers.org/ncbigene/5728
|
http://identifiers.org/ensembl/ENSG00000171862
|
http://identifiers.org/uniprot/P60484
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2497
|
http://identifiers.org/kegg.genes/hsa:5728
|
https://omim.org/entry/601728
|
http://www.orpha.net/ORDO/Orphanet_118128
|
10q23.31
|
http://identifiers.org/hgnc/11998
|
TP53
|
tumor protein p53
|
http://identifiers.org/ncbigene/7157
|
http://identifiers.org/ensembl/ENSG00000141510
|
http://identifiers.org/uniprot/P04637
| null |
http://identifiers.org/kegg.genes/hsa:7157
|
https://omim.org/entry/191170
|
http://www.orpha.net/ORDO/Orphanet_120204
|
17p13.1
|
http://identifiers.org/hgnc/11999
|
TP53BP1
|
tumor protein p53 binding protein 1
|
http://identifiers.org/ncbigene/7158
|
http://identifiers.org/ensembl/ENSG00000067369
|
http://identifiers.org/uniprot/Q12888
| null |
http://identifiers.org/kegg.genes/hsa:7158
|
https://omim.org/entry/605230
|
http://www.orpha.net/ORDO/Orphanet_
|
15q15.3
|
http://identifiers.org/hgnc/25009
|
UBE2T
|
ubiquitin conjugating enzyme E2 T
|
http://identifiers.org/ncbigene/29089
|
http://identifiers.org/ensembl/ENSG00000077152
|
http://identifiers.org/uniprot/Q9NPD8
| null |
http://identifiers.org/kegg.genes/hsa:29089
|
https://omim.org/entry/610538
|
http://www.orpha.net/ORDO/Orphanet_432157
|
1q32.1
|
http://identifiers.org/hgnc/1748
|
CDH1
|
cadherin 1
|
http://identifiers.org/ncbigene/999
|
http://identifiers.org/ensembl/ENSG00000039068
|
http://identifiers.org/uniprot/P12830
| null |
http://identifiers.org/kegg.genes/hsa:999
|
https://omim.org/entry/192090
|
http://www.orpha.net/ORDO/Orphanet_119276
|
16q22.1
|
http://identifiers.org/hgnc/20473
|
BRIP1
|
BRCA1 interacting DNA helicase 1
|
http://identifiers.org/ncbigene/83990
|
http://identifiers.org/ensembl/ENSG00000136492
|
http://identifiers.org/uniprot/Q9BX63
| null |
http://identifiers.org/kegg.genes/hsa:83990
|
https://omim.org/entry/605882
|
http://www.orpha.net/ORDO/Orphanet_119080
|
17q23.2
|
http://identifiers.org/hgnc/12687
|
VHL
|
von Hippel-Lindau tumor suppressor
|
http://identifiers.org/ncbigene/7428
|
http://identifiers.org/ensembl/ENSG00000134086
|
http://identifiers.org/uniprot/P40337
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3204
|
http://identifiers.org/kegg.genes/hsa:7428
|
https://omim.org/entry/608537
|
http://www.orpha.net/ORDO/Orphanet_120467
|
3p25.3
|
http://identifiers.org/hgnc/25628
|
DDX19A
|
DEAD-box helicase 19A
|
http://identifiers.org/ncbigene/55308
|
http://identifiers.org/ensembl/ENSG00000168872
|
http://identifiers.org/uniprot/Q9NUU7
| null |
http://identifiers.org/kegg.genes/hsa:55308
|
https://omim.org/entry/
|
http://www.orpha.net/ORDO/Orphanet_
|
16q22.1
|
http://identifiers.org/hgnc/9884
|
RB1
|
RB transcriptional corepressor 1
|
http://identifiers.org/ncbigene/5925
|
http://identifiers.org/ensembl/ENSG00000139687
|
http://identifiers.org/uniprot/P06400
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=5253
|
http://identifiers.org/kegg.genes/hsa:5925
|
https://omim.org/entry/614041
|
http://www.orpha.net/ORDO/Orphanet_118239
|
13q14.2
|
http://identifiers.org/hgnc/17485
|
PPP2R3C
|
protein phosphatase 2 regulatory subunit B''gamma
|
http://identifiers.org/ncbigene/55012
|
http://identifiers.org/ensembl/ENSG00000092020
|
http://identifiers.org/uniprot/Q969Q6
| null |
http://identifiers.org/kegg.genes/hsa:55012
|
https://omim.org/entry/615902
|
http://www.orpha.net/ORDO/Orphanet_
|
14q13.2
|
http://identifiers.org/hgnc/16209
|
RPRD1B
|
regulation of nuclear pre-mRNA domain containing 1B
|
http://identifiers.org/ncbigene/58490
|
http://identifiers.org/ensembl/ENSG00000101413
|
http://identifiers.org/uniprot/Q9NQG5
| null |
http://identifiers.org/kegg.genes/hsa:58490
|
https://omim.org/entry/614694
|
http://www.orpha.net/ORDO/Orphanet_
|
20q11.23
|
http://identifiers.org/hgnc/3581
|
BPTF
|
bromodomain PHD finger transcription factor
|
http://identifiers.org/ncbigene/2186
|
http://identifiers.org/ensembl/ENSG00000171634
|
http://identifiers.org/uniprot/Q12830
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2723
|
http://identifiers.org/kegg.genes/hsa:2186
|
https://omim.org/entry/601819
|
http://www.orpha.net/ORDO/Orphanet_
|
17q24.2
|
http://identifiers.org/hgnc/23177
|
KEAP1
|
kelch like ECH associated protein 1
|
http://identifiers.org/ncbigene/9817
|
http://identifiers.org/ensembl/ENSG00000079999
|
http://identifiers.org/uniprot/Q14145
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2757
|
http://identifiers.org/kegg.genes/hsa:9817
|
https://omim.org/entry/606016
|
http://www.orpha.net/ORDO/Orphanet_
|
19p13.2
|
http://identifiers.org/hgnc/3582
|
FANCA
|
FA complementation group A
|
http://identifiers.org/ncbigene/2175
|
http://identifiers.org/ensembl/ENSG00000187741
|
http://identifiers.org/uniprot/O15360
| null |
http://identifiers.org/kegg.genes/hsa:2175
|
https://omim.org/entry/607139
|
http://www.orpha.net/ORDO/Orphanet_121693
|
16q24.3
|
http://identifiers.org/hgnc/3585
|
FANCD2
|
FA complementation group D2
|
http://identifiers.org/ncbigene/2177
|
http://identifiers.org/ensembl/ENSG00000144554
|
http://identifiers.org/uniprot/Q9BXW9
| null |
http://identifiers.org/kegg.genes/hsa:2177
|
https://omim.org/entry/613984
|
http://www.orpha.net/ORDO/Orphanet_121709
|
3p25.3
|
http://identifiers.org/hgnc/3587
|
FANCF
|
FA complementation group F
|
http://identifiers.org/ncbigene/2188
|
http://identifiers.org/ensembl/ENSG00000183161
|
http://identifiers.org/uniprot/Q9NPI8
| null |
http://identifiers.org/kegg.genes/hsa:2188
|
https://omim.org/entry/613897
|
http://www.orpha.net/ORDO/Orphanet_121719
|
11p14.3
|
http://identifiers.org/hgnc/21484
|
MCM9
|
minichromosome maintenance 9 homologous recombination repair factor
|
http://identifiers.org/ncbigene/254394
|
http://identifiers.org/ensembl/ENSG00000111877
|
http://identifiers.org/uniprot/Q9NXL9
| null |
http://identifiers.org/kegg.genes/hsa:254394
|
https://omim.org/entry/610098
|
http://www.orpha.net/ORDO/Orphanet_448630
|
6q22.31
|
http://identifiers.org/hgnc/10681
|
SDHB
|
succinate dehydrogenase complex iron sulfur subunit B
|
http://identifiers.org/ncbigene/6390
|
http://identifiers.org/ensembl/ENSG00000117118
|
http://identifiers.org/uniprot/P21912
| null |
http://identifiers.org/kegg.genes/hsa:6390
|
https://omim.org/entry/185470
|
http://www.orpha.net/ORDO/Orphanet_118554
|
1p36.13
|
http://identifiers.org/hgnc/950
|
BAP1
|
BRCA1 associated deubiquitinase 1
|
http://identifiers.org/ncbigene/8314
|
http://identifiers.org/ensembl/ENSG00000163930
|
http://identifiers.org/uniprot/Q92560
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2332
|
http://identifiers.org/kegg.genes/hsa:8314
|
https://omim.org/entry/603089
|
http://www.orpha.net/ORDO/Orphanet_289543
|
3p21.1
|
http://identifiers.org/hgnc/20294
|
USPL1
|
ubiquitin specific peptidase like 1
|
http://identifiers.org/ncbigene/10208
|
http://identifiers.org/ensembl/ENSG00000132952
|
http://identifiers.org/uniprot/Q5W0Q7
| null |
http://identifiers.org/kegg.genes/hsa:10208
|
https://omim.org/entry/617470
|
http://www.orpha.net/ORDO/Orphanet_
|
13q12.3
|
http://identifiers.org/hgnc/22408
|
ATG9A
|
autophagy related 9A
|
http://identifiers.org/ncbigene/79065
|
http://identifiers.org/ensembl/ENSG00000198925
|
http://identifiers.org/uniprot/Q7Z3C6
| null |
http://identifiers.org/kegg.genes/hsa:79065
|
https://omim.org/entry/612204
|
http://www.orpha.net/ORDO/Orphanet_
|
2q35
|
http://identifiers.org/hgnc/25223
|
COQ2
|
coenzyme Q2, polyprenyltransferase
|
http://identifiers.org/ncbigene/27235
|
http://identifiers.org/ensembl/ENSG00000173085
|
http://identifiers.org/uniprot/Q96H96
| null |
http://identifiers.org/kegg.genes/hsa:27235
|
https://omim.org/entry/609825
|
http://www.orpha.net/ORDO/Orphanet_120770
|
4q21.23
|
http://identifiers.org/hgnc/25682
|
FAM106A
|
family with sequence similarity 106 member A
|
http://identifiers.org/ncbigene/80039
|
http://identifiers.org/ensembl/ENSG00000273018
|
http://identifiers.org/uniprot/Q4KMX7
| null |
http://identifiers.org/kegg.genes/hsa:80039
|
https://omim.org/entry/
|
http://www.orpha.net/ORDO/Orphanet_
|
17p11.2
|
http://identifiers.org/hgnc/13607
|
FBXW11
|
F-box and WD repeat domain containing 11
|
http://identifiers.org/ncbigene/23291
|
http://identifiers.org/ensembl/ENSG00000072803
|
http://identifiers.org/uniprot/Q9UKB1
| null |
http://identifiers.org/kegg.genes/hsa:23291
|
https://omim.org/entry/605651
|
http://www.orpha.net/ORDO/Orphanet_
|
5q35.1
|
http://identifiers.org/hgnc/7705
|
NDUFC1
|
NADH:ubiquinone oxidoreductase subunit C1
|
http://identifiers.org/ncbigene/4717
|
http://identifiers.org/ensembl/ENSG00000109390
|
http://identifiers.org/uniprot/O43677
| null |
http://identifiers.org/kegg.genes/hsa:4717
|
https://omim.org/entry/603844
|
http://www.orpha.net/ORDO/Orphanet_470758
|
4q31.1
|
http://identifiers.org/hgnc/9141
|
PMVK
|
phosphomevalonate kinase
|
http://identifiers.org/ncbigene/10654
|
http://identifiers.org/ensembl/ENSG00000163344
|
http://identifiers.org/uniprot/Q15126
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=641
|
http://identifiers.org/kegg.genes/hsa:10654
|
https://omim.org/entry/607622
|
http://www.orpha.net/ORDO/Orphanet_444563
|
1q21.3
|
http://identifiers.org/hgnc/9352
|
PRDX1
|
peroxiredoxin 1
|
http://identifiers.org/ncbigene/5052
|
http://identifiers.org/ensembl/ENSG00000117450
|
http://identifiers.org/uniprot/Q06830
| null |
http://identifiers.org/kegg.genes/hsa:5052
|
https://omim.org/entry/176763
|
http://www.orpha.net/ORDO/Orphanet_
|
1p34.1
|
http://identifiers.org/hgnc/9438
|
PRKRA
|
protein activator of interferon induced protein kinase EIF2AK2
|
http://identifiers.org/ncbigene/8575
|
http://identifiers.org/ensembl/ENSG00000180228
|
http://identifiers.org/uniprot/O75569
| null |
http://identifiers.org/kegg.genes/hsa:8575
|
https://omim.org/entry/603424
|
http://www.orpha.net/ORDO/Orphanet_213048
|
2q31.2
|
http://identifiers.org/hgnc/29681
|
SLC25A33
|
solute carrier family 25 member 33
|
http://identifiers.org/ncbigene/84275
|
http://identifiers.org/ensembl/ENSG00000171612
|
http://identifiers.org/uniprot/Q9BSK2
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1084
|
http://identifiers.org/kegg.genes/hsa:84275
|
https://omim.org/entry/610816
|
http://www.orpha.net/ORDO/Orphanet_
|
1p36.22
|
http://identifiers.org/hgnc/30298
|
UIMC1
|
ubiquitin interaction motif containing 1
|
http://identifiers.org/ncbigene/51720
|
http://identifiers.org/ensembl/ENSG00000087206
|
http://identifiers.org/uniprot/Q96RL1
| null |
http://identifiers.org/kegg.genes/hsa:51720
|
https://omim.org/entry/609433
|
http://www.orpha.net/ORDO/Orphanet_
|
5q35.2
|
http://identifiers.org/hgnc/12563
|
UMPS
|
uridine monophosphate synthetase
|
http://identifiers.org/ncbigene/7372
|
http://identifiers.org/ensembl/ENSG00000114491
|
http://identifiers.org/uniprot/P11172
| null |
http://identifiers.org/kegg.genes/hsa:7372
|
https://omim.org/entry/613891
|
http://www.orpha.net/ORDO/Orphanet_120414
|
3q21.2
|
http://identifiers.org/hgnc/18037
|
ARID2
|
AT-rich interaction domain 2
|
http://identifiers.org/ncbigene/196528
|
http://identifiers.org/ensembl/ENSG00000189079
|
http://identifiers.org/uniprot/Q68CP9
| null |
http://identifiers.org/kegg.genes/hsa:196528
|
https://omim.org/entry/609539
|
http://www.orpha.net/ORDO/Orphanet_469962
|
12q12
|
http://identifiers.org/hgnc/13516
|
BIRC6
|
baculoviral IAP repeat containing 6
|
http://identifiers.org/ncbigene/57448
|
http://identifiers.org/ensembl/ENSG00000115760
|
http://identifiers.org/uniprot/Q9NR09
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2796
|
http://identifiers.org/kegg.genes/hsa:57448
|
https://omim.org/entry/605638
|
http://www.orpha.net/ORDO/Orphanet_
|
2p22.3
|
http://identifiers.org/hgnc/1148
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
http://identifiers.org/ncbigene/699
|
http://identifiers.org/ensembl/ENSG00000169679
|
http://identifiers.org/uniprot/O43683
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1949
|
http://identifiers.org/kegg.genes/hsa:699
|
https://omim.org/entry/602452
|
http://www.orpha.net/ORDO/Orphanet_367084
|
2q13
|
http://identifiers.org/hgnc/18380
|
BZW1
|
basic leucine zipper and W2 domains 1
|
http://identifiers.org/ncbigene/9689
|
http://identifiers.org/ensembl/ENSG00000082153
|
http://identifiers.org/uniprot/Q7L1Q6
| null |
http://identifiers.org/kegg.genes/hsa:9689
|
https://omim.org/entry/619252
|
http://www.orpha.net/ORDO/Orphanet_
|
2q33.1
|
http://identifiers.org/hgnc/20292
|
CAB39
|
calcium binding protein 39
|
http://identifiers.org/ncbigene/51719
|
http://identifiers.org/ensembl/ENSG00000135932
|
http://identifiers.org/uniprot/Q9Y376
| null |
http://identifiers.org/kegg.genes/hsa:51719
|
https://omim.org/entry/612174
|
http://www.orpha.net/ORDO/Orphanet_
|
2q37.1
|
http://identifiers.org/hgnc/6743
|
CAPRIN1
|
cell cycle associated protein 1
|
http://identifiers.org/ncbigene/4076
|
http://identifiers.org/ensembl/ENSG00000135387
|
http://identifiers.org/uniprot/Q14444
| null |
http://identifiers.org/kegg.genes/hsa:4076
|
https://omim.org/entry/601178
|
http://www.orpha.net/ORDO/Orphanet_
|
11p13
|
http://identifiers.org/hgnc/25675
|
CHMP6
|
charged multivesicular body protein 6
|
http://identifiers.org/ncbigene/79643
|
http://identifiers.org/ensembl/ENSG00000176108
|
http://identifiers.org/uniprot/Q96FZ7
| null |
http://identifiers.org/kegg.genes/hsa:79643
|
https://omim.org/entry/610901
|
http://www.orpha.net/ORDO/Orphanet_
|
17q25.3
|
http://identifiers.org/hgnc/19701
|
CNKSR2
|
connector enhancer of kinase suppressor of Ras 2
|
http://identifiers.org/ncbigene/22866
|
http://identifiers.org/ensembl/ENSG00000149970
|
http://identifiers.org/uniprot/Q8WXI2
| null |
http://identifiers.org/kegg.genes/hsa:22866
|
https://omim.org/entry/300724
|
http://www.orpha.net/ORDO/Orphanet_449961
|
Xp22.12
|
http://identifiers.org/hgnc/7880
|
CNOT4
|
CCR4-NOT transcription complex subunit 4
|
http://identifiers.org/ncbigene/4850
|
http://identifiers.org/ensembl/ENSG00000080802
|
http://identifiers.org/uniprot/O95628
| null |
http://identifiers.org/kegg.genes/hsa:4850
|
https://omim.org/entry/604911
|
http://www.orpha.net/ORDO/Orphanet_
|
7q33
|
http://identifiers.org/hgnc/2495
|
CTBP2
|
C-terminal binding protein 2
|
http://identifiers.org/ncbigene/1488
|
http://identifiers.org/ensembl/ENSG00000175029
|
http://identifiers.org/uniprot/P56545
| null |
http://identifiers.org/kegg.genes/hsa:1488
|
https://omim.org/entry/602619
|
http://www.orpha.net/ORDO/Orphanet_
|
10q26.13
|
http://identifiers.org/hgnc/2867
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
http://identifiers.org/ncbigene/1723
|
http://identifiers.org/ensembl/ENSG00000102967
|
http://identifiers.org/uniprot/Q02127
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2604
|
http://identifiers.org/kegg.genes/hsa:1723
|
https://omim.org/entry/126064
|
http://www.orpha.net/ORDO/Orphanet_225386
|
16q22.2
|
http://identifiers.org/hgnc/15861
|
DHX35
|
DEAH-box helicase 35
|
http://identifiers.org/ncbigene/60625
|
http://identifiers.org/ensembl/ENSG00000101452
|
http://identifiers.org/uniprot/Q9H5Z1
| null |
http://identifiers.org/kegg.genes/hsa:60625
|
https://omim.org/entry/
|
http://www.orpha.net/ORDO/Orphanet_
|
20q11.23-q12
|
http://identifiers.org/hgnc/15531
|
EBNA1BP2
|
EBNA1 binding protein 2
|
http://identifiers.org/ncbigene/10969
|
http://identifiers.org/ensembl/ENSG00000117395
|
http://identifiers.org/uniprot/Q99848
| null |
http://identifiers.org/kegg.genes/hsa:10969
|
https://omim.org/entry/614443
|
http://www.orpha.net/ORDO/Orphanet_
|
1p34.2
|
http://identifiers.org/hgnc/17233
|
ELMO2
|
engulfment and cell motility 2
|
http://identifiers.org/ncbigene/63916
|
http://identifiers.org/ensembl/ENSG00000062598
|
http://identifiers.org/uniprot/Q96JJ3
| null |
http://identifiers.org/kegg.genes/hsa:63916
|
https://omim.org/entry/606421
|
http://www.orpha.net/ORDO/Orphanet_465978
|
20q13.12
|
http://identifiers.org/hgnc/29249
|
FBXO42
|
F-box protein 42
|
http://identifiers.org/ncbigene/54455
|
http://identifiers.org/ensembl/ENSG00000037637
|
http://identifiers.org/uniprot/Q6P3S6
| null |
http://identifiers.org/kegg.genes/hsa:54455
|
https://omim.org/entry/609109
|
http://www.orpha.net/ORDO/Orphanet_
|
1p36.13
|
http://identifiers.org/hgnc/4113
|
GAK
|
cyclin G associated kinase
|
http://identifiers.org/ncbigene/2580
|
http://identifiers.org/ensembl/ENSG00000178950
|
http://identifiers.org/uniprot/O14976
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2027
|
http://identifiers.org/kegg.genes/hsa:2580
|
https://omim.org/entry/602052
|
http://www.orpha.net/ORDO/Orphanet_
|
4p16.3
|
http://identifiers.org/hgnc/4163
|
GART
|
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
|
http://identifiers.org/ncbigene/2618
|
http://identifiers.org/ensembl/ENSG00000159131
|
http://identifiers.org/uniprot/P22102
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2612
|
http://identifiers.org/kegg.genes/hsa:2618
|
https://omim.org/entry/138440
|
http://www.orpha.net/ORDO/Orphanet_
|
21q22.11
|
http://identifiers.org/hgnc/4670
|
GTPBP2
|
GTP binding protein 2
|
http://identifiers.org/ncbigene/54676
|
http://identifiers.org/ensembl/ENSG00000172432
|
http://identifiers.org/uniprot/Q9BX10
| null |
http://identifiers.org/kegg.genes/hsa:54676
|
https://omim.org/entry/607434
|
http://www.orpha.net/ORDO/Orphanet_
|
6p21.1
|
http://identifiers.org/hgnc/5468
|
IGFALS
|
insulin like growth factor binding protein acid labile subunit
|
http://identifiers.org/ncbigene/3483
|
http://identifiers.org/ensembl/ENSG00000099769
|
http://identifiers.org/uniprot/P35858
| null |
http://identifiers.org/kegg.genes/hsa:3483
|
https://omim.org/entry/601489
|
http://www.orpha.net/ORDO/Orphanet_159982
|
16p13.3
|
http://identifiers.org/hgnc/5961
|
IKBKG
|
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
|
http://identifiers.org/ncbigene/8517
|
http://identifiers.org/ensembl/ENSG00000269335
|
http://identifiers.org/uniprot/Q9Y6K9
| null |
http://identifiers.org/kegg.genes/hsa:8517
|
https://omim.org/entry/300248
|
http://www.orpha.net/ORDO/Orphanet_122614
|
Xq28
|
http://identifiers.org/hgnc/6201
|
JTB
|
jumping translocation breakpoint
|
http://identifiers.org/ncbigene/10899
|
http://identifiers.org/ensembl/ENSG00000143543
|
http://identifiers.org/uniprot/O76095
| null |
http://identifiers.org/kegg.genes/hsa:10899
|
https://omim.org/entry/604671
|
http://www.orpha.net/ORDO/Orphanet_
|
1q21.3
|
http://identifiers.org/hgnc/6397
|
KPNA4
|
karyopherin subunit alpha 4
|
http://identifiers.org/ncbigene/3840
|
http://identifiers.org/ensembl/ENSG00000186432
|
http://identifiers.org/uniprot/O00629
| null |
http://identifiers.org/kegg.genes/hsa:3840
|
https://omim.org/entry/602970
|
http://www.orpha.net/ORDO/Orphanet_
|
3q25.33
|
http://identifiers.org/hgnc/18752
|
MAPKAP1
|
MAPK associated protein 1
|
http://identifiers.org/ncbigene/79109
|
http://identifiers.org/ensembl/ENSG00000119487
|
http://identifiers.org/uniprot/Q9BPZ7
| null |
http://identifiers.org/kegg.genes/hsa:79109
|
https://omim.org/entry/610558
|
http://www.orpha.net/ORDO/Orphanet_
|
9q33.3
|
http://identifiers.org/hgnc/22474
|
MED13
|
mediator complex subunit 13
|
http://identifiers.org/ncbigene/9969
|
http://identifiers.org/ensembl/ENSG00000108510
|
http://identifiers.org/uniprot/Q9UHV7
| null |
http://identifiers.org/kegg.genes/hsa:9969
|
https://omim.org/entry/603808
|
http://www.orpha.net/ORDO/Orphanet_
|
17q23.2
|
http://identifiers.org/hgnc/7224
|
MPV17
|
mitochondrial inner membrane protein MPV17
|
http://identifiers.org/ncbigene/4358
|
http://identifiers.org/ensembl/ENSG00000115204
|
http://identifiers.org/uniprot/P39210
| null |
http://identifiers.org/kegg.genes/hsa:4358
|
https://omim.org/entry/137960
|
http://www.orpha.net/ORDO/Orphanet_123470
|
2p23.3
|
http://identifiers.org/hgnc/29666
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
http://identifiers.org/ncbigene/123263
|
http://identifiers.org/ensembl/ENSG00000103707
|
http://identifiers.org/uniprot/Q96DP5
| null |
http://identifiers.org/kegg.genes/hsa:123263
|
https://omim.org/entry/611766
|
http://www.orpha.net/ORDO/Orphanet_299657
|
15q22.31
|
http://identifiers.org/hgnc/7701
|
NDUFB6
|
NADH:ubiquinone oxidoreductase subunit B6
|
http://identifiers.org/ncbigene/4712
|
http://identifiers.org/ensembl/ENSG00000165264
|
http://identifiers.org/uniprot/O95139
| null |
http://identifiers.org/kegg.genes/hsa:4712
|
https://omim.org/entry/603322
|
http://www.orpha.net/ORDO/Orphanet_470752
|
9p21.1
|
http://identifiers.org/hgnc/18017
|
NUP160
|
nucleoporin 160
|
http://identifiers.org/ncbigene/23279
|
http://identifiers.org/ensembl/ENSG00000030066
|
http://identifiers.org/uniprot/Q12769
| null |
http://identifiers.org/kegg.genes/hsa:23279
|
https://omim.org/entry/607614
|
http://www.orpha.net/ORDO/Orphanet_
|
11p11.2
|
http://identifiers.org/hgnc/16245
|
PARD6B
|
par-6 family cell polarity regulator beta
|
http://identifiers.org/ncbigene/84612
|
http://identifiers.org/ensembl/ENSG00000124171
|
http://identifiers.org/uniprot/Q9BYG5
| null |
http://identifiers.org/kegg.genes/hsa:84612
|
https://omim.org/entry/608975
|
http://www.orpha.net/ORDO/Orphanet_
|
20q13.13
|
http://identifiers.org/hgnc/4606
|
PDIA3
|
protein disulfide isomerase family A member 3
|
http://identifiers.org/ncbigene/2923
|
http://identifiers.org/ensembl/ENSG00000167004
|
http://identifiers.org/uniprot/P30101
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3293
|
http://identifiers.org/kegg.genes/hsa:2923
|
https://omim.org/entry/602046
|
http://www.orpha.net/ORDO/Orphanet_
|
15q15.3
|
http://identifiers.org/hgnc/29088
|
PDS5A
|
PDS5 cohesin associated factor A
|
http://identifiers.org/ncbigene/23244
|
http://identifiers.org/ensembl/ENSG00000121892
|
http://identifiers.org/uniprot/Q29RF7
| null |
http://identifiers.org/kegg.genes/hsa:23244
|
https://omim.org/entry/613200
|
http://www.orpha.net/ORDO/Orphanet_470848
|
4p14
|
http://identifiers.org/hgnc/8988
|
PIN1
|
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
|
http://identifiers.org/ncbigene/5300
|
http://identifiers.org/ensembl/ENSG00000127445
|
http://identifiers.org/uniprot/Q13526
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3171
|
http://identifiers.org/kegg.genes/hsa:5300
|
https://omim.org/entry/601052
|
http://www.orpha.net/ORDO/Orphanet_
|
19p13
|
http://identifiers.org/hgnc/9571
|
PSMF1
|
proteasome inhibitor subunit 1
|
http://identifiers.org/ncbigene/9491
|
http://identifiers.org/ensembl/ENSG00000125818
|
http://identifiers.org/uniprot/Q92530
| null |
http://identifiers.org/kegg.genes/hsa:9491
|
https://omim.org/entry/617858
|
http://www.orpha.net/ORDO/Orphanet_
|
20p13
|
http://identifiers.org/hgnc/9826
|
RAD54L
|
RAD54 like
|
http://identifiers.org/ncbigene/8438
|
http://identifiers.org/ensembl/ENSG00000085999
|
http://identifiers.org/uniprot/Q92698
| null |
http://identifiers.org/kegg.genes/hsa:8438
|
https://omim.org/entry/603615
|
http://www.orpha.net/ORDO/Orphanet_437664
|
1p34.1
|
http://identifiers.org/hgnc/28349
|
RMI2
|
RecQ mediated genome instability 2
|
http://identifiers.org/ncbigene/116028
|
http://identifiers.org/ensembl/ENSG00000175643
|
http://identifiers.org/uniprot/Q96E14
| null |
http://identifiers.org/kegg.genes/hsa:116028
|
https://omim.org/entry/612426
|
http://www.orpha.net/ORDO/Orphanet_
|
16p13.13
|
http://identifiers.org/hgnc/17271
|
RRAS2
|
RAS related 2
|
http://identifiers.org/ncbigene/22800
|
http://identifiers.org/ensembl/ENSG00000133818
|
http://identifiers.org/uniprot/P62070
| null |
http://identifiers.org/kegg.genes/hsa:22800
|
https://omim.org/entry/600098
|
http://www.orpha.net/ORDO/Orphanet_
|
11p15.2
|
http://identifiers.org/hgnc/10683
|
SDHD
|
succinate dehydrogenase complex subunit D
|
http://identifiers.org/ncbigene/6392
|
http://identifiers.org/ensembl/ENSG00000204370
|
http://identifiers.org/uniprot/O14521
| null |
http://identifiers.org/kegg.genes/hsa:6392
|
https://omim.org/entry/602690
|
http://www.orpha.net/ORDO/Orphanet_118561
|
11q23.1
|
http://identifiers.org/hgnc/10839
|
SHBG
|
sex hormone binding globulin
|
http://identifiers.org/ncbigene/6462
|
http://identifiers.org/ensembl/ENSG00000129214
|
http://identifiers.org/uniprot/P04278
| null |
http://identifiers.org/kegg.genes/hsa:6462
|
https://omim.org/entry/182205
|
http://www.orpha.net/ORDO/Orphanet_
|
17p13.1
|
http://identifiers.org/hgnc/23990
|
STAC2
|
SH3 and cysteine rich domain 2
|
http://identifiers.org/ncbigene/342667
|
http://identifiers.org/ensembl/ENSG00000141750
|
http://identifiers.org/uniprot/Q6ZMT1
| null |
http://identifiers.org/kegg.genes/hsa:342667
|
https://omim.org/entry/
|
http://www.orpha.net/ORDO/Orphanet_
|
17q12
|
http://identifiers.org/hgnc/11427
|
STUB1
|
STIP1 homology and U-box containing protein 1
|
http://identifiers.org/ncbigene/10273
|
http://identifiers.org/ensembl/ENSG00000103266
|
http://identifiers.org/uniprot/Q9UNE7
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3202
|
http://identifiers.org/kegg.genes/hsa:10273
|
https://omim.org/entry/607207
|
http://www.orpha.net/ORDO/Orphanet_395106
|
16p13.3
|
http://identifiers.org/hgnc/30631
|
TADA1
|
transcriptional adaptor 1
|
http://identifiers.org/ncbigene/117143
|
http://identifiers.org/ensembl/ENSG00000152382
|
http://identifiers.org/uniprot/Q96BN2
| null |
http://identifiers.org/kegg.genes/hsa:117143
|
https://omim.org/entry/612763
|
http://www.orpha.net/ORDO/Orphanet_
|
1q24.1
|
http://identifiers.org/hgnc/28814
|
TMCO6
|
transmembrane and coiled-coil domains 6
|
http://identifiers.org/ncbigene/55374
|
http://identifiers.org/ensembl/ENSG00000113119
|
http://identifiers.org/uniprot/Q96DC7
| null |
http://identifiers.org/kegg.genes/hsa:55374
|
https://omim.org/entry/
|
http://www.orpha.net/ORDO/Orphanet_
|
5q31.3
|
http://identifiers.org/hgnc/30536
|
DMAC1
|
distal membrane arm assembly component 1
|
http://identifiers.org/ncbigene/90871
|
http://identifiers.org/ensembl/ENSG00000137038
|
http://identifiers.org/uniprot/Q96GE9
| null |
http://identifiers.org/kegg.genes/hsa:90871
|
https://omim.org/entry/617261
|
http://www.orpha.net/ORDO/Orphanet_
|
9p24.1
|
http://identifiers.org/hgnc/25981
|
TOR4A
|
torsin family 4 member A
|
http://identifiers.org/ncbigene/54863
|
http://identifiers.org/ensembl/ENSG00000198113
|
http://identifiers.org/uniprot/Q9NXH8
| null |
http://identifiers.org/kegg.genes/hsa:54863
|
https://omim.org/entry/
|
http://www.orpha.net/ORDO/Orphanet_
|
9q34.3
|
http://identifiers.org/hgnc/17034
|
TUSC2
|
tumor suppressor 2, mitochondrial calcium regulator
|
http://identifiers.org/ncbigene/11334
|
http://identifiers.org/ensembl/ENSG00000114383
|
http://identifiers.org/uniprot/O75896
| null |
http://identifiers.org/kegg.genes/hsa:11334
|
https://omim.org/entry/607052
|
http://www.orpha.net/ORDO/Orphanet_
|
3p21.31
|
http://identifiers.org/hgnc/23147
|
UNC13D
|
unc-13 homolog D
|
http://identifiers.org/ncbigene/201294
|
http://identifiers.org/ensembl/ENSG00000092929
|
http://identifiers.org/uniprot/Q70J99
| null |
http://identifiers.org/kegg.genes/hsa:201294
|
https://omim.org/entry/608897
|
http://www.orpha.net/ORDO/Orphanet_120416
|
17q25.3
|
http://identifiers.org/hgnc/16356
|
USH1G
|
USH1 protein network component sans
|
http://identifiers.org/ncbigene/124590
|
http://identifiers.org/ensembl/ENSG00000182040
|
http://identifiers.org/uniprot/Q495M9
| null |
http://identifiers.org/kegg.genes/hsa:124590
|
https://omim.org/entry/607696
|
http://www.orpha.net/ORDO/Orphanet_120442
|
17q25.1
|
http://identifiers.org/hgnc/12607
|
USP1
|
ubiquitin specific peptidase 1
|
http://identifiers.org/ncbigene/7398
|
http://identifiers.org/ensembl/ENSG00000162607
|
http://identifiers.org/uniprot/O94782
|
https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2428
|
http://identifiers.org/kegg.genes/hsa:7398
|
https://omim.org/entry/603478
|
http://www.orpha.net/ORDO/Orphanet_
|
1p31.3
|
http://identifiers.org/hgnc/18533
|
USP48
|
ubiquitin specific peptidase 48
|
http://identifiers.org/ncbigene/84196
|
http://identifiers.org/ensembl/ENSG00000090686
|
http://identifiers.org/uniprot/Q86UV5
| null |
http://identifiers.org/kegg.genes/hsa:84196
|
https://omim.org/entry/617445
|
http://www.orpha.net/ORDO/Orphanet_
|
1p36.12
|
http://identifiers.org/hgnc/24327
|
VGLL3
|
vestigial like family member 3
|
http://identifiers.org/ncbigene/389136
|
http://identifiers.org/ensembl/ENSG00000206538
|
http://identifiers.org/uniprot/A8MV65
| null |
http://identifiers.org/kegg.genes/hsa:389136
|
https://omim.org/entry/609980
|
http://www.orpha.net/ORDO/Orphanet_
|
3p12.1
|
http://identifiers.org/hgnc/25522
|
WRAP53
|
WD repeat containing antisense to TP53
|
http://identifiers.org/ncbigene/55135
|
http://identifiers.org/ensembl/ENSG00000141499
|
http://identifiers.org/uniprot/Q9BUR4
| null |
http://identifiers.org/kegg.genes/hsa:55135
|
https://omim.org/entry/612661
|
http://www.orpha.net/ORDO/Orphanet_266162
|
17p13.1
|
http://identifiers.org/hgnc/18329
|
YPEL5
|
yippee like 5
|
http://identifiers.org/ncbigene/51646
|
http://identifiers.org/ensembl/ENSG00000119801
|
http://identifiers.org/uniprot/P62699
| null |
http://identifiers.org/kegg.genes/hsa:51646
|
https://omim.org/entry/609726
|
http://www.orpha.net/ORDO/Orphanet_
|
2p23.1
|
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