ONTOLOGY REPORT - ANNOTATIONS
Term: tissue homeostasis
Accession: GO:0001894
browse the term
Definition: A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.
Synonyms: narrow_synonym: tissue maintenance
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ACACA
acetyl-CoA carboxylase alpha
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:17210641)
Ensembl MGI
PMID:17210641
GO_REF:0000107
NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
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AKR1B1
aldo-keto reductase family 1 member B
ISO
lens opacification
RGD
PMID:21376710
RGD:8548687
NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
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ANKRD11
ankyrin repeat domain containing 11
acts_upstream_of_or_within
ISO
(PMID:17986521)
MGI
PMID:17986521
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
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ASCL3
achaete-scute family bHLH transcription factor 3
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:8,937,578...8,943,016
Ensembl chr11:8,937,578...8,943,016
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BAP1
BRCA1 associated deubiquitinase 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BARD1
BRCA1 associated RING domain 1
involved_in
TAS
(PMID:15782130)
UniProt
PMID:15782130
NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
involved_in
ISO
(PMID:30735131)
MGI
PMID:30735131
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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CCN2
cellular communication network factor 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23839921)
Ensembl MGI
PMID:23839921
GO_REF:0000107
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CD34
CD34 molecule
involved_in
IDA
(PMID:12939361)
UniProt
PMID:12939361
NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402
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COL11A2
collagen type XI alpha 2 chain
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:11237662)
Ensembl MGI
PMID:11237662
GO_REF:0000107
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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COL2A1
collagen type II alpha 1 chain
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:11237662)
Ensembl MGI
PMID:11237662
GO_REF:0000107
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL3A1
collagen type III alpha 1 chain
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL9A1
collagen type IX alpha 1 chain
acts_upstream_of_or_within
ISO
(PMID:8197187)
MGI
PMID:8197187
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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CTNNB1
catenin beta 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18635608)
Ensembl MGI
PMID:18635608
GO_REF:0000107
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CUBN
cubilin
involved_in
NAS
(PMID:11994745)
UniProt
PMID:11994745
NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
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ERRFI1
ERBB receptor feedback inhibitor 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:19439667)
Ensembl MGI
PMID:19439667
GO_REF:0000107
NCBI chr 1:8,011,727...8,026,309
Ensembl chr 1:8,004,404...8,026,309
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GNAS
GNAS complex locus
acts_upstream_of_or_within
ISO
(PMID:20427744)
MGI
PMID:20427744
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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GNAS-AS1
GNAS antisense RNA 1
acts_upstream_of_or_within
ISO
(PMID:20427744)
MGI
PMID:20427744
NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903
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HOXA13
homeobox A13
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18483557)
Ensembl MGI
PMID:18483557
GO_REF:0000107
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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ITGB1
integrin subunit beta 1
ISO
RGD
PMID:17118629
RGD:1625131
NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
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KCNJ1
potassium inwardly rectifying channel subfamily J member 1
acts_upstream_of_or_within
ISO
(PMID:12122007)
MGI
PMID:12122007
NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
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MIR140
microRNA 140
acts_upstream_of_or_within
ISO
(PMID:20466812)
MGI
PMID:20466812
NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
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NANOS1
nanos C2HC-type zinc finger 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:25100735)
Ensembl MGI
PMID:25100735
GO_REF:0000107
NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730
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NFIB
nuclear factor I B
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:32393888)
Ensembl MGI
PMID:32393888
GO_REF:0000107
NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983
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NFIX
nuclear factor I X
acts_upstream_of_or_within
ISO
(PMID:32393888)
MGI
PMID:32393888
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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P2RX4
purinergic receptor P2X 4
involved_in
NAS
(PMID:17264311)
BHF-UCL
PMID:17264311
NCBI chr12:121,210,129...121,234,106
Ensembl chr12:121,210,065...121,234,106
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PDGFRB
platelet derived growth factor receptor beta
acts_upstream_of_or_within
ISO
(PMID:17143286)
MGI
PMID:17143286
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PERP
p53 apoptosis effector related to PMP22
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
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PRICKLE1
prickle planar cell polarity protein 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355
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PRLH
prolactin releasing hormone
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:19033670)
Ensembl MGI
PMID:19033670
GO_REF:0000107
NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175
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RB1
RB transcriptional corepressor 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:25100735)
Ensembl MGI
PMID:25100735
GO_REF:0000107
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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SCX
scleraxis bHLH transcription factor
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:144,266,453...144,268,481
Ensembl chr 8:144,266,453...144,268,481
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SOX9
SRY-box transcription factor 9
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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STK11
serine/threonine kinase 11
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18381428)
Ensembl MGI
PMID:18381428
GO_REF:0000107
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TP53INP2
tumor protein p53 inducible nuclear protein 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:24713655)
Ensembl MGI
PMID:24713655
GO_REF:0000107
NCBI chr20:34,704,344...34,713,436
Ensembl chr20:34,704,339...34,713,439
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TRIM32
tripartite motif containing 32
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:19155210)
Ensembl MGI
PMID:19155210
GO_REF:0000107
NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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WWTR1
WW domain containing transcription regulator 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714
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YAP1
Yes1 associated transcriptional regulator
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
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ACP5
acid phosphatase 5, tartrate resistant
acts_upstream_of_or_within involved_in
ISO IBA IEA
(PMID:8898228)
RGD MGI GO_Central Ensembl
PMID:8898228 PMID:20069278
GO_REF:0000033 GO_REF:0000107 RGD:2315871
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ADRB2
adrenoceptor beta 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15724149)
Ensembl MGI
PMID:15724149
GO_REF:0000107
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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BBLN
bublin coiled coil protein
acts_upstream_of_or_within
ISO
(PMID:32569872)
MGI
PMID:32569872
NCBI chr 9:128,160,265...128,163,924
Ensembl chr 9:128,160,265...128,163,924
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CCDC154
coiled-coil domain containing 154
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:20121924)
Ensembl MGI
PMID:20121924
GO_REF:0000107
NCBI chr16:1,434,383...1,444,556
Ensembl chr16:1,434,383...1,444,556
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CTNNB1
catenin beta 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15866165)
Ensembl MGI
PMID:15866165
GO_REF:0000107
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CTSK
cathepsin K
acts_upstream_of_or_within involved_in
ISO IEA
(PMID:19834056)
RGD MGI Ensembl
PMID:10430032 PMID:19834056
GO_REF:0000107 RGD:1601030
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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CTSS
cathepsin S
ISO
RGD
PMID:10470376
RGD:5687153
NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
involved_in
ISO
(PMID:28798354)
MGI
PMID:28798354
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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EXT1
exostosin glycosyltransferase 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:29415886)
Ensembl MGI
PMID:29415886
GO_REF:0000107
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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GPR55
G protein-coupled receptor 55
involved_in
IDA
(PMID:19805329)
UniProt
PMID:19805329
NCBI chr 2:230,907,328...230,961,201
Ensembl chr 2:230,907,318...230,961,066
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HNF1A
HNF1 homeobox A
acts_upstream_of_or_within
ISO
(PMID:15866165)
MGI
PMID:15866165
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
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IAPP
islet amyloid polypeptide
involved_in acts_upstream_of
IEA ISO
(PMID:14970190)
Ensembl MGI
PMID:14970190
GO_REF:0000107
NCBI chr12:21,354,959...21,379,980
Ensembl chr12:21,354,959...21,379,980
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IHH
Indian hedgehog signaling molecule
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:10208865)
Ensembl MGI
PMID:10208865
GO_REF:0000107
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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IL7
interleukin 7
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:12490655)
UniProt MGI Ensembl
PMID:12490655
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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LRRK1
leucine rich repeat kinase 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23526378)
Ensembl MGI
PMID:23526378
GO_REF:0000107
NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257
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MIR34A
microRNA 34a
acts_upstream_of_or_within_negative_effect
ISO
(PMID:25043055)
MGI
PMID:25043055
NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
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NCDN
neurochondrin
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:10231559)
Ensembl MGI
PMID:10231559
GO_REF:0000107
NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274
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NOX4
NADPH oxidase 4
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:11098048)
Ensembl MGI
PMID:11098048
GO_REF:0000107
NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
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PTH
parathyroid hormone
involved_in
NAS
(PMID:15080150)
UniProt
PMID:15080150
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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PTH1R
parathyroid hormone 1 receptor
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:9832460)
Ensembl MGI
PMID:9832460
GO_REF:0000107
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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PTK2B
protein tyrosine kinase 2 beta
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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RAB3D
RAB3D, member RAS oncogene family
involved_in
IDA
(PMID:21262767)
GO_Central
PMID:21262767
NCBI chr19:11,322,068...11,339,657
Ensembl chr19:11,322,068...11,346,270
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RAB7A
RAB7A, member RAS oncogene family
involved_in
ISO IEA
RGD Ensembl
PMID:11514537
GO_REF:0000107 RGD:729760
NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942
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RAC1
Rac family small GTPase 1
ISO
RGD
PMID:10350213
RGD:1599401
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RAC2
Rac family small GTPase 2
involved_in
ISO IEA
RGD Ensembl
PMID:10350213
GO_REF:0000107 RGD:1599401
NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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SNX10
sorting nexin 10
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:25811986)
Ensembl MGI
PMID:25811986
GO_REF:0000107
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:19448635)
Ensembl MGI UniProt
PMID:19448635
GO_REF:0000024 GO_REF:0000107
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23166162), (PMID:23908015) (PMID:21305608) (PMID:18768394), (PMID:22087326)
Ensembl MGI
PMID:18768394 PMID:21305608 PMID:22087326 PMID:23166162 PMID:23908015
GO_REF:0000107
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TNFSF11
TNF superfamily member 11
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:12490655)
Ensembl MGI
PMID:12490655
GO_REF:0000107
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TNS3
tensin 3
acts_upstream_of_or_within
ISO
(PMID:27505886)
MGI
PMID:27505886
NCBI chr 7:47,275,154...47,582,586
Ensembl chr 7:47,275,154...47,582,558
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TPP1
tripeptidyl peptidase 1
involved_in
IMP
(PMID:8215436)
UniProt
PMID:8215436
NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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TRAF6
TNF receptor associated factor 6
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
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ZNF675
zinc finger protein 675
involved_in
TAS
(PMID:11751921)
UniProt
PMID:11751921
NCBI chr19:23,652,801...23,687,212
Ensembl chr19:23,525,631...23,687,220
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COMP
cartilage oligomeric matrix protein
involved_in
IEA IDA
(PMID:32747625)
Ensembl UniProt
PMID:32747625
GO_REF:0000107
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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CYTL1
cytokine like 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:21652695)
Ensembl MGI
PMID:21652695
GO_REF:0000107
NCBI chr 4:5,014,586...5,019,458
Ensembl chr 4:5,014,586...5,019,458
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IDUA
alpha-L-iduronidase
acts_upstream_of_or_within
ISO
(PMID:19834056)
MGI
PMID:19834056
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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IFT80
intraflagellar transport 80
acts_upstream_of_or_within involved_in
ISO IEA
(PMID:32227389)
MGI Ensembl
PMID:32227389
GO_REF:0000107
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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MTF1
metal regulatory transcription factor 1
acts_upstream_of involved_in
ISO IEA
(MGI:5577232|PMID:24529376)
UniProt Ensembl
PMID:24529376
GO_REF:0000107 MGI:5577232
NCBI chr 1:37,809,574...37,859,592
Ensembl chr 1:37,809,574...37,859,592
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SLC39A8
solute carrier family 39 member 8
acts_upstream_of involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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TRPV4
transient receptor potential cation channel subfamily V member 4
involved_in
ISO
(PMID:24474754)
AgBase
PMID:24474754
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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CRACD
capping protein inhibiting regulator of actin dynamics
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 4:56,049,098...56,330,609
Ensembl chr 4:56,049,098...56,330,609
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CROCC
ciliary rootlet coiled-coil, rootletin
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15870283)
Ensembl MGI
PMID:15870283
GO_REF:0000107
NCBI chr 1:16,914,085...16,972,964
Ensembl chr 1:16,740,273...16,972,964
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CXADR
CXADR Ig-like cell adhesion molecule
involved_in
IMP
(PMID:15304526)
UniProt
PMID:15304526
NCBI chr21:17,513,043...17,636,262
Ensembl chr21:17,513,043...17,593,579
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DLG1
discs large MAGUK scaffold protein 1
involved_in
ISO
(PMID:21849460)
UniProt
PMID:21849460
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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ILDR1
immunoglobulin like domain containing receptor 1
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247
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LACRT
lacritin
involved_in
IDA
(PMID:25034600)
FlyBase
PMID:25034600
NCBI chr12:54,630,811...54,634,895
Ensembl chr12:54,630,811...54,634,895
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LDB1
LIM domain binding 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:17991461)
Ensembl MGI
PMID:17991461
GO_REF:0000107
NCBI chr10:102,102,088...102,121,442
Ensembl chr10:102,106,489...102,120,368
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LDB2
LIM domain binding 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:17991461)
Ensembl MGI
PMID:17991461
GO_REF:0000107
NCBI chr 4:16,501,541...16,898,645
Ensembl chr 4:16,501,541...16,898,678
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LSR
lipolysis stimulated lipoprotein receptor
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr19:35,249,002...35,267,964
Ensembl chr19:35,248,330...35,267,964
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MIR204
microRNA 204
acts_upstream_of
IDA
(PMID:20056717)
BHF-UCL
PMID:20056717
NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084
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MKS1
MKS transition zone complex subunit 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:21045211) (PMID:19776033) (PMID:23454480)
Ensembl MGI
PMID:19776033 PMID:21045211 PMID:23454480
GO_REF:0000107
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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PIWIL4
piwi like RNA-mediated gene silencing 4
involved_in
IMP
(PMID:28025795)
UniProt
PMID:28025795
NCBI chr11:94,567,368...94,621,421
Ensembl chr11:94,543,840...94,621,421
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PKP3
plakophilin 3
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr11:392,596...404,908
Ensembl chr11:392,614...404,908
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SCRIB
scribble planar cell polarity protein
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773
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SRF
serum response factor
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:20047077)
Ensembl MGI
PMID:20047077
GO_REF:0000107
NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
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ADD1
adducin 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18723693)
Ensembl MGI
PMID:18723693
GO_REF:0000107
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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AKT3
AKT serine/threonine kinase 3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15713641)
Ensembl MGI
PMID:15713641
GO_REF:0000107
NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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BAX
BCL2 associated X, apoptosis regulator
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15342910) (PMID:11413548)
Ensembl MGI
PMID:11413548 PMID:15342910
GO_REF:0000107
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:16427619) (PMID:9241272)
Ensembl MGI
PMID:9241272 PMID:16427619
GO_REF:0000107
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BRINP1
BMP/retinoic acid inducible neural specific 1
acts_upstream_of_or_within involved_in
ISO IEA
(PMID:29960053)
MGI Ensembl
PMID:29960053
GO_REF:0000107
NCBI chr 9:119,166,629...119,369,435
Ensembl chr 9:119,153,458...119,369,435
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CCR2
C-C motif chemokine receptor 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:9342361)
Ensembl MGI
PMID:9342361
GO_REF:0000107
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CD7
CD7 molecule
acts_upstream_of_or_within
ISO
(PMID:9637484)
MGI
PMID:9637484
NCBI chr17:82,314,873...82,317,608
Ensembl chr17:82,314,868...82,317,608
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COL14A1
collagen type XIV alpha 1 chain
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:22906538)
Ensembl MGI
PMID:22906538
GO_REF:0000107
NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573
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CORO1A
coronin 1A
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18836449)
Ensembl MGI
PMID:18836449
GO_REF:0000107
NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
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CSF1
colony stimulating factor 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:9215625)
Ensembl MGI
PMID:9215625
GO_REF:0000107
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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F2R
coagulation factor II thrombin receptor
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:18305483)
Ensembl MGI UniProt
PMID:18305483
GO_REF:0000024 GO_REF:0000107
NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
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FH
fumarate hydratase
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:17418408)
Ensembl MGI
PMID:17418408
GO_REF:0000107
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FLT3
fms related receptor tyrosine kinase 3
acts_upstream_of_or_within
ISO
(PMID:20457904) (PMID:22674806)
MGI
PMID:20457904 PMID:22674806
NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
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FLT3LG
fms related receptor tyrosine kinase 3 ligand
acts_upstream_of_or_within
ISO
(PMID:21048959)
MGI
PMID:21048959
NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231
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FOSL2
FOS like 2, AP-1 transcription factor subunit
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:33655757) (PMID:24464219)
Ensembl MGI
PMID:24464219 PMID:33655757
GO_REF:0000107
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
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GATA1
GATA binding protein 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:14504093)
Ensembl MGI
PMID:14504093
GO_REF:0000107
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
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GATA2
GATA binding protein 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15811962) (PMID:14504093)
Ensembl MGI
PMID:14504093 PMID:15811962
GO_REF:0000107
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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GIGYF2
GRB10 interacting GYF protein 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:19744960)
Ensembl MGI
PMID:19744960
GO_REF:0000107
NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605
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IL20RB
interleukin 20 receptor subunit beta
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:19124723)
Ensembl MGI
PMID:19124723
GO_REF:0000107
NCBI chr 3:136,957,983...137,011,085
Ensembl chr 3:136,946,230...137,011,085
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IL7
interleukin 7
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:9252127)
Ensembl MGI
PMID:9252127
GO_REF:0000107
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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ILDR2
immunoglobulin like domain containing receptor 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18654634)
Ensembl MGI
PMID:18654634
GO_REF:0000107
NCBI chr 1:166,908,187...166,975,540
Ensembl chr 1:166,895,711...166,975,540
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KLHL10
kelch like family member 10
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15136734)
Ensembl MGI
PMID:15136734
GO_REF:0000107
NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384
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KMT2A
lysine methyltransferase 2A
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:22674806)
Ensembl MGI
PMID:22674806
GO_REF:0000107
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KRAS
KRAS proto-oncogene, GTPase
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:24675817)
Ensembl MGI
PMID:24675817
GO_REF:0000107
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LINC01159
long intergenic non-protein coding RNA 1159
acts_upstream_of_or_within
ISO
(PMID:24381249)
MGI
PMID:24381249
NCBI chr 2:104,865,497...104,872,595
Ensembl chr 2:104,865,407...104,872,653
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LIPA
lipase A, lysosomal acid type
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:14644759)
Ensembl MGI
PMID:14644759
GO_REF:0000107
NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
G
MINAR2
membrane integral NOTCH2 associated receptor 2
acts_upstream_of_or_within involved_in
ISO IEA
(PMID:35727972)
MGI Ensembl
PMID:35727972
GO_REF:0000107
NCBI chr 5:129,748,094...129,766,732
Ensembl chr 5:129,748,094...129,766,732
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NFIX
nuclear factor I X
involved_in
ISO
(PMID:25331604) (PMID:27965439)
MGI
PMID:25331604 PMID:27965439
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NFKBIZ
NFKB inhibitor zeta
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:101,827,990...101,861,022
Ensembl chr 3:101,827,991...101,861,022
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NOS3
nitric oxide synthase 3
involved_in
IEA ISS
Ensembl BHF-UCL
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOTCH1
notch receptor 1
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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P2RX7
purinergic receptor P2X 7
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:16969386)
Ensembl MGI
PMID:16969386
GO_REF:0000107
NCBI chr12:121,132,876...121,188,032
Ensembl chr12:121,132,819...121,188,032
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PRDM14
PR/SET domain 14
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:18622394)
Ensembl MGI
PMID:18622394
GO_REF:0000107
NCBI chr 8:70,051,651...70,071,252
Ensembl chr 8:70,051,651...70,071,693
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PTH
parathyroid hormone
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:21048959)
Ensembl MGI
PMID:21048959
GO_REF:0000107
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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PTPN11
protein tyrosine phosphatase non-receptor type 11
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:24675817)
Ensembl MGI
PMID:24675817
GO_REF:0000107
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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RAC1
Rac family small GTPase 1
acts_upstream_of_or_within
ISO
(PMID:23258346)
MGI
PMID:23258346
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RAC3
Rac family small GTPase 3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23258346)
Ensembl MGI
PMID:23258346
GO_REF:0000107
NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204
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RPA1
replication protein A1
acts_upstream_of_or_within
ISO
(PMID:15965476)
MGI
PMID:15965476
NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
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SASH3
SAM and SH3 domain containing 3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:16227612)
Ensembl MGI
PMID:16227612
GO_REF:0000107
NCBI chr X:129,779,949...129,795,201
Ensembl chr X:129,779,949...129,795,201
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SMO
smoothened, frizzled class receptor
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23680462)
Ensembl MGI
PMID:23680462
GO_REF:0000107
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SOX9
SRY-box transcription factor 9
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:24218621)
Ensembl MGI
PMID:24218621
GO_REF:0000107
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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TEX15
testis expressed 15, meiosis and synapsis associated
acts_upstream_of_or_within
ISO
(PMID:18283110)
MGI
PMID:18283110
NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008
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TUBA1A
tubulin alpha 1a
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
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VEGFA
vascular endothelial growth factor A
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:22886301)
Ensembl MGI
PMID:22886301
GO_REF:0000107
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VPS54
VPS54 subunit of GARP complex
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:8815872)
Ensembl MGI
PMID:8815872
GO_REF:0000107
NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428
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EPG5
ectopic P-granules 5 autophagy tethering factor
acts_upstream_of_or_within involved_in
ISO IEA
(PMID:27715390)
MGI Ensembl
PMID:27715390
GO_REF:0000107
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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GNAT2
G protein subunit alpha transducin 2
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23580486)
Ensembl MGI
PMID:23580486
GO_REF:0000107
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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VHL
von Hippel-Lindau tumor suppressor
acts_upstream_of_or_within
ISO
(PMID:22627278)
MGI
PMID:22627278
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
G
ABCC6
ATP binding cassette subfamily C member 6
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
G
ALPL
alkaline phosphatase, biomineralization associated
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
G
ANKH
ANKH inorganic pyrophosphate transport regulator
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
involved_in
ISO
(PMID:25644539) (PMID:23798568), (PMID:26624227), (PMID:26763447), (PMID:27959908), (PMID:28402956), (PMID:28652107) (PMID:24732453) (PMID:21490328) (PMID:15625282)
MGI
PMID:15625282 PMID:21490328 PMID:23798568 PMID:24732453 PMID:25644539 PMID:26624227 PMID:26763447 PMID:27959908 PMID:28402956 PMID:28652107 More...
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
G
NT5E
5'-nucleotidase ecto
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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IL10RA
interleukin 10 receptor subunit alpha
involved_in
IDA
(PMID:29454749)
UniProt
PMID:29454749
NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
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IL17A
interleukin 17A
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
INAVA
innate immunity activator
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742
G
SOX9
SRY-box transcription factor 9
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:17681175)
UniProt MGI Ensembl
PMID:17681175
GO_REF:0000024 GO_REF:0000107
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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TLR4
toll like receptor 4
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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ZNF830
zinc finger protein 830
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:23213458)
Ensembl MGI
PMID:23213458
GO_REF:0000107
NCBI chr17:34,961,540...34,963,777
Ensembl chr17:34,961,540...34,963,777
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ABCB1
ATP binding cassette subfamily B member 1
ISO
RGD
PMID:26830080
RGD:11041002
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ACTB
actin beta
acts_upstream_of_or_within
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ACTG1
actin gamma 1
acts_upstream_of_or_within
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
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BDKRB2
bradykinin receptor B2
ISO
RGD
PMID:20080302
RGD:4891047
NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
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CD2AP
CD2 associated protein
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:26358779)
Ensembl MGI
PMID:26358779
GO_REF:0000107
NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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CDH5
cadherin 5
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784
G
CLDN1
claudin 1
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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CLDN12
claudin 12
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 7:90,403,461...90,415,954
Ensembl chr 7:90,383,721...90,513,402
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CLDN3
claudin 3
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 7:73,768,997...73,770,270
Ensembl chr 7:73,768,997...73,770,270
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CLDN5
claudin 5
involved_in
IMP NAS
(PMID:28961379) (PMID:30280653)
ARUK-UCL
PMID:28961379 PMID:30280653
NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
G
DMD
dystrophin
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
G
ESAM
endothelial cell adhesion molecule
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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F11R
F11 receptor
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,175
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GJA1
gap junction protein alpha 1
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
G
GJB6
gap junction protein beta 6
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
G
IL6
interleukin 6
acts_upstream_of_or_within
TAS
(PMID:29702085)
ARUK-UCL
PMID:29702085
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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ITGB1
integrin subunit beta 1
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
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JAM2
junctional adhesion molecule 2
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
G
JAM3
junctional adhesion molecule 3
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001
G
LAMA2
laminin subunit alpha 2
acts_upstream_of_or_within
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
G
LAMC1
laminin subunit gamma 1
acts_upstream_of_or_within
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 1:183,023,420...183,145,592
Ensembl chr 1:183,023,420...183,145,592
G
LSR
lipolysis stimulated lipoprotein receptor
acts_upstream_of_or_within
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr19:35,249,002...35,267,964
Ensembl chr19:35,248,330...35,267,964
G
MBP
myelin basic protein
involved_in
IDA
(PMID:22524708)
CAFA
PMID:22524708
NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
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MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
involved_in acts_upstream_of_or_within
IEA ISS
(PMID:26005868)
Ensembl ARUK-UCL
PMID:26005868
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
G
NAGLU
N-acetyl-alpha-glucosaminidase
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:21408219)
Ensembl MGI
PMID:21408219
GO_REF:0000107
NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
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OCLN
occludin
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
G
PECAM1
platelet and endothelial cell adhesion molecule 1
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
RGD
PMID:17704356
RGD:2325928
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
G
PTGS2
prostaglandin-endoperoxide synthase 2
involved_in
ISO IEA
RGD Ensembl
PMID:17704356
GO_REF:0000107 RGD:2325928
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
G
SLC12A2
solute carrier family 12 member 2
acts_upstream_of_or_within
ISS TAS
(PMID:27782176)
ARUK-UCL
PMID:27782176
GO_REF:0000024
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
G
SLC1A1
solute carrier family 1 member 1
acts_upstream_of_or_within involved_in
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469
G
TJP1
tight junction protein 1
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
G
TJP2
tight junction protein 2
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
G
TJP3
tight junction protein 3
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr19:3,708,384...3,750,813
Ensembl chr19:3,708,362...3,750,813
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TSPAN12
tetraspanin 12
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:30478038)
Ensembl MGI
PMID:30478038
GO_REF:0000107
NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
G
VCL
vinculin
involved_in
NAS
(PMID:30280653)
ARUK-UCL
PMID:30280653
NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
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WNK3
WNK lysine deficient protein kinase 3
acts_upstream_of_or_within involved_in
ISS IEA
(PMID:27782176)
ARUK-UCL Ensembl
PMID:27782176
GO_REF:0000107
NCBI chr X:54,192,823...54,358,900
Ensembl chr X:54,192,823...54,358,642
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CRACD
capping protein inhibiting regulator of actin dynamics
involved_in
ISS IBA
UniProt GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr 4:56,049,098...56,330,609
Ensembl chr 4:56,049,098...56,330,609
G
HTR4
5-hydroxytryptamine receptor 4
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:148,451,032...148,654,527
Ensembl chr 5:148,446,042...148,677,235
G
MUC13
mucin 13, cell surface associated
involved_in
IMP
(PMID:17058067)
UniProt
PMID:17058067
NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819
G
MUC2
mucin 2, oligomeric mucus/gel-forming
involved_in
IMP
(PMID:17058067)
UniProt
PMID:17058067
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
G
MUC4
mucin 4, cell surface associated
involved_in
IMP
(PMID:17058067)
UniProt
PMID:17058067
NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
G
MUC6
mucin 6, oligomeric mucus/gel-forming
involved_in
NAS
(PMID:7680650)
UniProt
PMID:7680650
NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
G
NOD2
nucleotide binding oligomerization domain containing 2
involved_in
IMP
(PMID:17058067)
UniProt
PMID:17058067
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
G
PBLD
phenazine biosynthesis like protein domain containing
involved_in
IMP
(PMID:17929853)
UniProt
PMID:17929853
NCBI chr10:68,282,660...68,332,928
Ensembl chr10:68,282,660...68,333,049
G
RBP4
retinol binding protein 4
involved_in
IDA
(PMID:10944490)
BHF-UCL
PMID:10944490
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
G
SERPINA3
serpin family A member 3
involved_in
NAS
(PMID:8647626)
UniProt
PMID:8647626
NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055
G
STRAP
serine/threonine kinase receptor associated protein
involved_in
IMP
(PMID:17929853)
UniProt
PMID:17929853
NCBI chr12:15,882,387...15,903,478
Ensembl chr12:15,882,387...15,903,478
G
TFF1
trefoil factor 1
involved_in
ISO IBA IEA
RGD GO_Central Ensembl
PMID:8836141
GO_REF:0000033 GO_REF:0000107 RGD:625375
NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
G
TFF2
trefoil factor 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr21:42,346,357...42,350,994
Ensembl chr21:42,346,357...42,350,997
G
TFF3
trefoil factor 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409
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TLR9
toll like receptor 9
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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VSIG1
V-set and immunoglobulin domain containing 1
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:21991385)
InterPro MGI GO_Central
PMID:21991385
GO_REF:0000002 GO_REF:0000033
NCBI chr X:108,018,879...108,079,184
Ensembl chr X:108,044,970...108,079,184
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ALDH1A1
aldehyde dehydrogenase 1 family member A1
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 9:72,900,671...72,953,053
Ensembl chr 9:72,900,671...73,080,442
G
APBB2
amyloid beta precursor protein binding family B member 2
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 4:40,810,027...41,214,542
Ensembl chr 4:40,810,027...41,216,714
G
CHMP4B
charged multivesicular body protein 4B
involved_in
IMP
(PMID:17701905)
UniProt
PMID:17701905
NCBI chr20:33,811,348...33,854,366
Ensembl chr20:33,811,348...33,854,366
G
FOXC1
forkhead box C1
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
G
GCNT2
glucosaminyl (N-acetyl) transferase 2 (I blood group)
involved_in
IMP
(PMID:12424189)
UniProt
PMID:12424189
NCBI chr 6:10,521,351...10,629,368
Ensembl chr 6:10,492,223...10,629,368
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
acts_upstream_of_or_within
ISO
(PMID:23272068)
MGI
PMID:23272068
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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STK39
serine/threonine kinase 39
involved_in
ISS IEA
ParkinsonsUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:167,954,022...168,247,595
Ensembl chr 2:167,954,020...168,247,595
G
VPS13B
vacuolar protein sorting 13 homolog B
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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ABCC8
ATP binding cassette subfamily C member 8
involved_in
ISO IEA
RGD Ensembl
PMID:18854840
GO_REF:0000107 RGD:2325137
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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IFNB1
interferon beta 1
ISO
RGD
PMID:12973019 PMID:12973022
RGD:401851924 RGD:401851925
NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
G
SH3GL2
SH3 domain containing GRB2 like 2, endophilin A1
involved_in
IMP
(PMID:24854121)
ARUK-UCL
PMID:24854121
NCBI chr 9:17,579,066...17,797,124
Ensembl chr 9:17,579,066...17,797,124
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VEGFA
vascular endothelial growth factor A
involved_in
IMP
(PMID:19148554)
ARUK-UCL
PMID:19148554
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
G
CALCA
calcitonin related polypeptide alpha
involved_in
IDA
(PMID:10822112), (PMID:17241109)
UniProt
PMID:10822112 PMID:17241109
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
G
CARTPT
CART prepropeptide
involved_in
IMP IEA
(PMID:16614075)
HGNC-UCL Ensembl
PMID:16614075
GO_REF:0000107
NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048
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CD38
CD38 molecule
involved_in
ISO IEA
RGD Ensembl
PMID:10477767
GO_REF:0000107 RGD:2307268
NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232
G
CEACAM1
CEA cell adhesion molecule 1
acts_upstream_of_or_within
ISO
(PMID:25490771)
MGI
PMID:25490771
NCBI chr19:42,507,306...42,528,481
Ensembl chr19:42,507,304...42,561,234
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CLDN18
claudin 18
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:22437732)
Ensembl MGI
PMID:22437732
GO_REF:0000107
NCBI chr 3:137,998,816...138,033,649
Ensembl chr 3:137,998,735...138,033,655
G
CSK
C-terminal Src kinase
involved_in
ISO IEA
RGD Ensembl
PMID:10411542
GO_REF:0000107 RGD:5134371
NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197
G
CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
RGD
PMID:8694895
RGD:7257714
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
G
FSHR
follicle stimulating hormone receptor
acts_upstream_of_or_within
ISO
(PMID:11089565), (PMID:17332067)
MGI
PMID:11089565 PMID:17332067
NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
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GPR137
G protein-coupled receptor 137
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr11:64,270,531...64,289,500
Ensembl chr11:64,270,062...64,289,494
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GPR137B
G protein-coupled receptor 137B
involved_in
ISS IBA
UniProt GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr 1:236,142,539...236,208,907
Ensembl chr 1:236,142,505...236,221,865
G
HAMP
hepcidin antimicrobial peptide
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:24561287)
Ensembl MGI
PMID:24561287
GO_REF:0000107
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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IAPP
islet amyloid polypeptide
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:14970190)
Ensembl MGI
PMID:14970190
GO_REF:0000107
NCBI chr12:21,354,959...21,379,980
Ensembl chr12:21,354,959...21,379,980
G
IL6
interleukin 6
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
INPP5D
inositol polyphosphate-5-phosphatase D
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:12161749)
Ensembl MGI GO_Central
PMID:12161749
GO_REF:0000033 GO_REF:0000107
NCBI chr 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903
G
P2RX7
purinergic receptor P2X 7
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:12677010)
BHF-UCL MGI Ensembl
PMID:12677010
GO_REF:0000024 GO_REF:0000107
NCBI chr12:121,132,876...121,188,032
Ensembl chr12:121,132,819...121,188,032
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TMEM119
transmembrane protein 119
involved_in
IEA ISS
Ensembl ARUK-UCL
GO_REF:0000024 GO_REF:0000107
NCBI chr12:108,589,851...108,598,084
Ensembl chr12:108,589,851...108,598,320
G
TNFAIP3
TNF alpha induced protein 3
involved_in
NAS
(PMID:21127049)
BHF-UCL
PMID:21127049
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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TNFRSF11B
TNF receptor superfamily member 11b
involved_in
ISO IEA
RGD Ensembl
PMID:11839361 PMID:16912914
GO_REF:0000107 RGD:1624170 RGD:730196
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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UBASH3B
ubiquitin associated and SH3 domain containing B
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:23149425)
Ensembl MGI GO_Central
PMID:23149425
GO_REF:0000033 GO_REF:0000107
NCBI chr11:122,655,722...122,814,473
Ensembl chr11:122,655,722...122,814,473
G
VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:15312247
RGD:1580559
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
G
ABCA4
ATP binding cassette subfamily A member 4
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:11431429)
Ensembl MGI
PMID:11431429
GO_REF:0000107
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
G
ADGRV1
adhesion G protein-coupled receptor V1
involved_in
IMP
(PMID:14740321)
HGNC-UCL
PMID:14740321
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
acts_upstream_of_or_within involved_in
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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BBS1
Bardet-Biedl syndrome 1
involved_in
IMP
(PMID:17980398)
BHF-UCL
PMID:17980398
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
G
BBS10
Bardet-Biedl syndrome 10
involved_in
IMP
(PMID:17980398)
BHF-UCL
PMID:17980398
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
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BBS12
Bardet-Biedl syndrome 12
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:22869374), (PMID:22958920)
Ensembl MGI GO_Central
PMID:22869374 PMID:22958920
GO_REF:0000033 GO_REF:0000107
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
G
BBS2
Bardet-Biedl syndrome 2
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:15539463)
BHF-UCL MGI Ensembl
PMID:15539463
GO_REF:0000024 GO_REF:0000107
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
G
BBS4
Bardet-Biedl syndrome 4
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:17591906), (PMID:20398886), (PMID:23943788) (PMID:23943788) (PMID:16794820), (PMID:21444805)
BHF-UCL MGI Ensembl
PMID:16794820 PMID:17591906 PMID:20398886 PMID:21444805 PMID:23943788
GO_REF:0000024 GO_REF:0000107
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
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BSG
basigin (Ok blood group)
involved_in
IDA
(PMID:25957687)
UniProt
PMID:25957687
NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494
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CDH23
cadherin related 23
involved_in
IMP
(PMID:16679490)
HGNC-UCL
PMID:16679490
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
CDHR1
cadherin related family member 1
involved_in acts_upstream_of_or_within
IMP ISO IEA
(PMID:20805371) (PMID:11738025)
UniProt MGI Ensembl
PMID:11738025 PMID:20805371
GO_REF:0000107
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
G
CEP290
centrosomal protein 290
acts_upstream_of_or_within
ISO
(PMID:23943788)
MGI
PMID:23943788
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
G
CIB2
calcium and integrin binding family member 2
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
G
CLCN3
chloride voltage-gated channel 3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:11182090)
Ensembl MGI
PMID:11182090
GO_REF:0000107
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
G
CLN8
CLN8 transmembrane ER and ERGIC protein
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15565184), (PMID:9151333)
Ensembl MGI
PMID:9151333 PMID:15565184
GO_REF:0000107
NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
G
CLRN1
clarin 1
involved_in
IMP
(PMID:15521980)
HGNC-UCL
PMID:15521980
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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CNGB1
cyclic nucleotide gated channel subunit beta 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15634774)
Ensembl MGI
PMID:15634774
GO_REF:0000107
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
G
CRB1
crumbs cell polarity complex component 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:17234588), (PMID:25147295)
Ensembl MGI
PMID:17234588 PMID:25147295
GO_REF:0000107
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
G
CRB2
crumbs cell polarity complex component 2
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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CROCC
ciliary rootlet coiled-coil, rootletin
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15870283)
Ensembl MGI
PMID:15870283
GO_REF:0000107
NCBI chr 1:16,914,085...16,972,964
Ensembl chr 1:16,740,273...16,972,964
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DRAM2
DNA damage regulated autophagy modulator 2
involved_in acts_upstream_of_or_within
IMP ISO IBA IEA
(PMID:25983245) (PMID:37691820)
UniProt MGI GO_Central Ensembl
PMID:25983245 PMID:37691820
GO_REF:0000033 GO_REF:0000107
NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:17145777)
Ensembl MGI
PMID:17145777
GO_REF:0000107
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ESRRB
estrogen related receptor beta
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837
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IQCB1
IQ motif containing B1
involved_in
IMP
(PMID:15723066)
HGNC-UCL
PMID:15723066
NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
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LCA5
lebercilin LCA5
acts_upstream_of_or_within
ISS
UniProt
GO_REF:0000024
NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
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MAK
male germ cell associated kinase
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:21148103)
UniProt MGI Ensembl
PMID:21148103
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
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MAP1A
microtubule associated protein 1A
acts_upstream_of_or_within
ISO
(PMID:22323461)
MGI
PMID:22323461
NCBI chr15:43,510,954...43,531,611
Ensembl chr15:43,510,958...43,531,620
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MDM1
Mdm1 nuclear protein
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:68,294,566...68,332,362
Ensembl chr12:68,272,443...68,332,381
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MKKS
MKKS centrosomal shuttling protein
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:16170314) (PMID:15772095)
Ensembl MGI BHF-UCL
PMID:15772095 PMID:16170314
GO_REF:0000024 GO_REF:0000107
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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NPHP3
nephrocystin 3
involved_in
IMP
(PMID:12872122)
HGNC-UCL
PMID:12872122
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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NPHP4
nephrocystin 4
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:21078623)
Ensembl MGI
PMID:21078623
GO_REF:0000107
NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
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NXNL1
nucleoredoxin like 1
involved_in
IEA IMP
(PMID:25957687)
InterPro UniProt Ensembl
PMID:25957687
GO_REF:0000002 GO_REF:0000107
NCBI chr19:17,455,425...17,460,926
Ensembl chr19:17,455,425...17,460,926
G
NXNL2
nucleoredoxin like 2
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr 9:88,535,178...88,584,510
Ensembl chr 9:88,534,033...88,584,274
G
PCDH15
protocadherin related 15
involved_in
IMP
(PMID:11398101)
HGNC-UCL
PMID:11398101
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
G
PDE6A
phosphodiesterase 6A
acts_upstream_of_or_within
ISO
(PMID:22183357)
MGI
PMID:22183357
NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793
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PROM1
prominin 1
involved_in
IMP IBA
(PMID:18654668)
BHF-UCL GO_Central
PMID:18654668
GO_REF:0000033
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
G
RDH12
retinol dehydrogenase 12
involved_in
TAS
(PMID:12226107)
UniProt
PMID:12226107
NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
G
RHO
rhodopsin
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:22183357)
Ensembl MGI
PMID:22183357
GO_REF:0000107
NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
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RP1
RP1 axonemal microtubule associated
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
G
RP1L1
RP1 like 1
involved_in
IMP ISS
(PMID:23281133)
BHF-UCL UniProt
PMID:23281133
GO_REF:0000024
NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
G
SLC2A1
solute carrier family 2 member 1
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
G
SPATA7
spermatogenesis associated 7
involved_in
ISS IBA IEA
UniProt GO_Central Ensembl
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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TUB
TUB bipartite transcription factor
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:10629044)
Ensembl MGI
PMID:10629044
GO_REF:0000107
NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
G
TULP1
TUB like protein 1
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:10549638), (PMID:17525220) (PMID:10607826) (PMID:22183357)
Ensembl MGI UniProt
PMID:10549638 PMID:10607826 PMID:17525220 PMID:22183357
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
G
USH1C
USH1 protein network component harmonin
involved_in
IMP
(PMID:11398101)
HGNC-UCL
PMID:11398101
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
USH1G
USH1 protein network component sans
involved_in
IMP
(PMID:11398101)
HGNC-UCL
PMID:11398101
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
G
USH2A
usherin
involved_in acts_upstream_of_or_within
IMP ISO IEA
(PMID:10090909) (PMID:17360538)
HGNC-UCL MGI Ensembl
PMID:10090909 PMID:17360538
GO_REF:0000107
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
G
USP45
ubiquitin specific peptidase 45
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728
G
ANGPT1
angiopoietin 1
involved_in
IMP
(PMID:19148554)
ARUK-UCL
PMID:19148554
NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
G
OCLN
occludin
involved_in
IMP
(PMID:24854121)
ARUK-UCL
PMID:24854121
NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
G
TJP1
tight junction protein 1
involved_in
IMP IBA
(PMID:24854121)
ARUK-UCL GO_Central
PMID:24854121
GO_REF:0000033
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
G
TJP2
tight junction protein 2
involved_in
IMP IBA
(PMID:19148554)
ARUK-UCL GO_Central
PMID:19148554
GO_REF:0000033
NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
G
TJP3
tight junction protein 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr19:3,708,384...3,750,813
Ensembl chr19:3,708,362...3,750,813
G
ADAM8
ADAM metallopeptidase domain 8
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr10:133,262,423...133,276,868
Ensembl chr10:133,262,420...133,276,868
G
AHSG
alpha 2-HS glycoprotein
ISO
RGD
PMID:10500999
RGD:1625797
NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
G
CA2
carbonic anhydrase 2
ISO
RGD
PMID:8674544
RGD:1600722
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
G
DCSTAMP
dendrocyte expressed seven transmembrane protein
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:104,339,796...104,356,689
Ensembl chr 8:104,339,087...104,356,689
G
DEF8
differentially expressed in FDCP 8 homolog
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr16:89,948,755...89,968,060
Ensembl chr16:89,948,697...89,968,060
G
DLK1
delta like non-canonical Notch ligand 1
acts_upstream_of_or_within
ISO
(PMID:21308776)
MGI
PMID:21308776
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
G
EGFR
epidermal growth factor receptor
involved_in
ISO IEA
RGD Ensembl
PMID:2981075
GO_REF:0000107 RGD:10395245
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
FCGR3A
Fc gamma receptor IIIa
involved_in
ISO
(MGI:5641770|PMID:25824719) (PMID:25824719)
UniProt
PMID:25824719
MGI:5641770
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
G
FSHB
follicle stimulating hormone subunit beta
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:16630814)
Ensembl MGI
PMID:16630814
GO_REF:0000107
NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
G
IDUA
alpha-L-iduronidase
acts_upstream_of_or_within
ISO
(PMID:19834056)
MGI
PMID:19834056
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
G
ITGB3
integrin subunit beta 3
involved_in
ISO IEA
RGD Ensembl
PMID:8603604
GO_REF:0000107 RGD:5024929
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
G
LRP6
LDL receptor related protein 6
acts_upstream_of_or_within
ISO
(PMID:18505367)
MGI
PMID:18505367
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
G
LTBP3
latent transforming growth factor beta binding protein 3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15878314)
Ensembl MGI
PMID:15878314
GO_REF:0000107
NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
G
MC4R
melanocortin 4 receptor
involved_in
IEA IMP
(PMID:16614075)
Ensembl HGNC-UCL
PMID:16614075
GO_REF:0000107
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
G
OSCAR
osteoclast associated Ig-like receptor
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:11805147)
Ensembl MGI
PMID:11805147
GO_REF:0000107
NCBI chr19:54,094,668...54,100,803
Ensembl chr19:54,094,668...54,102,692
G
PLEKHM1
pleckstrin homology and RUN domain containing M1
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
G
PPARGC1B
PPARG coactivator 1 beta
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022
G
PRKCA
protein kinase C alpha
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
G
PTGER4
prostaglandin E receptor 4
ISO
RGD
PMID:11792579
RGD:729815
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
G
SPP1
secreted phosphoprotein 1
involved_in
ISO IBA IEA
RGD GO_Central Ensembl
PMID:11792563
GO_REF:0000033 GO_REF:0000107 RGD:1581129
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
G
SRC
SRC proto-oncogene, non-receptor tyrosine kinase
involved_in
ISO IEA
RGD Ensembl
PMID:8514886
GO_REF:0000107 RGD:150524326
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
G
SYK
spleen associated tyrosine kinase
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
G
TF
transferrin
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
G
TFRC
transferrin receptor
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
G
TMEM64
transmembrane protein 64
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:23395171)
Ensembl MGI GO_Central
PMID:23395171
GO_REF:0000033 GO_REF:0000107
NCBI chr 8:90,621,995...90,646,083
Ensembl chr 8:90,621,995...90,791,632
G
TNFRSF11A
TNF receptor superfamily member 11a
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:11805147)
Ensembl MGI GO_Central
PMID:11805147
GO_REF:0000033 GO_REF:0000107
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
G
TNFSF11
TNF superfamily member 11
involved_in
ISO IDA
(PMID:17241109)
RGD UniProt
PMID:11092398 PMID:17241109
RGD:730134
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
G
SLC22A5
solute carrier family 22 member 5
involved_in
IMP
(PMID:18005709)
BHF-UCL
PMID:18005709
NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613
G
PRDX5
peroxiredoxin 5
involved_in
IDA
(PMID:15276323)
UniProt
PMID:15276323
NCBI chr11:64,318,121...64,321,811
Ensembl chr11:64,318,121...64,321,811
G
XIAP
X-linked inhibitor of apoptosis
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
G
ZEB2
zinc finger E-box binding homeobox 2
involved_in
ISO IEA
RGD Ensembl
PMID:34334113
GO_REF:0000107 RGD:155882538
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
G
BGLAP
bone gamma-carboxyglutamate protein
involved_in
NAS
(PMID:10486212)
UniProt
PMID:10486212
NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
G
CALCR
calcitonin receptor
NOT|acts_upstream_of_or_within
ISO
(PMID:14970190)
MGI
PMID:14970190
NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730
G
CSF1R
colony stimulating factor 1 receptor
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
G
IL20RA
interleukin 20 receptor subunit alpha
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:21844205)
Ensembl MGI
PMID:21844205
GO_REF:0000107
NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180
G
ITGB3
integrin subunit beta 3
involved_in
TAS
(PMID:19267251)
BHF-UCL
PMID:19267251
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
G
NF1
neurofibromin 1
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:17053831)
HGNC-UCL MGI Ensembl
PMID:17053831
GO_REF:0000024 GO_REF:0000107
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
G
PDK4
pyruvate dehydrogenase kinase 4
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:95,583,499...95,596,516
Ensembl chr 7:95,583,499...95,596,516
G
S1PR1
sphingosine-1-phosphate receptor 1
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:101,236,899...101,242,313
Ensembl chr 1:101,236,865...101,243,713
G
SIGLEC15
sialic acid binding Ig like lectin 15
involved_in acts_upstream_of_or_within
IEA ISO IBA
(PMID:22451653)
Ensembl MGI GO_Central
PMID:22451653
GO_REF:0000033 GO_REF:0000107
NCBI chr18:45,825,675...45,844,094
Ensembl chr18:45,825,675...45,844,094
G
SLC4A2
solute carrier family 4 member 2
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
G
SRC
SRC proto-oncogene, non-receptor tyrosine kinase
involved_in
TAS
(PMID:19267251)
BHF-UCL
PMID:19267251
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
G
SOX9
SRY-box transcription factor 9
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:17698607)
Ensembl MGI UniProt
PMID:17698607
GO_REF:0000024 GO_REF:0000107
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
G
NEUROD1
neuronal differentiation 1
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827
G
NDP
norrin cystine knot growth factor NDP
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:28575130)
Ensembl MGI
PMID:28575130
GO_REF:0000107
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
G
VSTM4
V-set and transmembrane domain containing 4
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:31698979)
Ensembl MGI
PMID:31698979
GO_REF:0000107
NCBI chr10:49,014,236...49,115,522
Ensembl chr10:49,014,236...49,115,522
G
AIPL1
aryl hydrocarbon receptor interacting protein like 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15365173) (PMID:15365178)
Ensembl MGI
PMID:15365173 PMID:15365178
GO_REF:0000107
NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
G
ARMS2
age-related maculopathy susceptibility 2
involved_in
IMP
(PMID:18511946)
BHF-UCL
PMID:18511946
NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
acts_upstream_of_or_within involved_in
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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BBS1
Bardet-Biedl syndrome 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:15322545)
Ensembl MGI
PMID:15322545
GO_REF:0000107
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BBS4
Bardet-Biedl syndrome 4
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:15322545) (PMID:15173597)
Ensembl MGI BHF-UCL
PMID:15173597 PMID:15322545
GO_REF:0000024 GO_REF:0000107
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
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CCDC66
coiled-coil domain containing 66
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 3:56,557,156...56,621,837
Ensembl chr 3:56,557,161...56,621,837
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CDH3
cadherin 3
involved_in
IMP
(PMID:23143461)
UniProt
PMID:23143461
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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CNGB1
cyclic nucleotide gated channel subunit beta 1
involved_in
IMP IBA
(PMID:15557452)
UniProt GO_Central
PMID:15557452
GO_REF:0000033
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
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CRB2
crumbs cell polarity complex component 2
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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POC1B
POC1 centriolar protein B
involved_in
IMP
(PMID:25044745)
UniProt
PMID:25044745
NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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RPE65
retinoid isomerohydrolase RPE65
involved_in
IMP
(PMID:15557452)
UniProt
PMID:15557452
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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SLC28A2
solute carrier family 28 member 2
involved_in
ISO IBA
RGD GO_Central
PMID:16487924
GO_REF:0000033 RGD:2317453
NCBI chr15:45,252,234...45,277,846
Ensembl chr15:45,252,234...45,277,846
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SLC28A3
solute carrier family 28 member 3
ISO
RGD
PMID:16487924
RGD:2317453
NCBI chr 9:84,275,457...84,368,727
Ensembl chr 9:84,275,457...84,340,758
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SOD1
superoxide dismutase 1
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:16844785)
Ensembl MGI UniProt
PMID:16844785
GO_REF:0000024 GO_REF:0000107
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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TULP1
TUB like protein 1
involved_in
IMP
(PMID:15557452)
UniProt
PMID:15557452
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
G
WDR36
WD repeat domain 36
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:20631153)
Ensembl MGI
PMID:20631153
GO_REF:0000107
NCBI chr 5:111,092,348...111,130,502
Ensembl chr 5:111,092,321...111,130,502
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WHRN
whirlin
involved_in
IEA ISS IMP
(PMID:17171570)
Ensembl UniProt HGNC-UCL
PMID:17171570
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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