RIBOSOME BIOGENESIS PATHWAY (PW:0001066)
Description
The ribosome is involved in the final stage of gene expression thereby the genetic information is decoded into the protein polypeptide chain. In all organisms the ribosome is built of two subunits, each with distinct functions. The small eukaryotic 40S subunit (30S in prokaryotes) is the decoder that reads the mRNA while the large 60S subunit (50S in prokaryotes) carries out the catalytic peptidyl transferase reaction. The small 40s subunit is composed of one rRNA and 33 ribosomal proteins (RPS); the large 60S subunit is composed of three rRNAs and 49 ribosomal proteins (RLS). The assembly of translation competent 80S ribosome is a complex journey that starts in the nucleolus/nucleus and ends in the cytoplasm, and along the way, involving more than 200 non-ribosomal, trans-acting factors. Ribosome biogenesis is an essential and one of the most energy-consuming cellular events. The yeast has been the model system for the studies of ribosome biogenesis but many aspects are still not well defined. How it takes place in humans is only beginning to be unraveled, showing core similarities but also differences. Recent work identifies a very large panel of human genes required for ribosome processing, a subset of which do not have an yeast ortholog. The ribosome biogenesis in higher eukaryotes, as currently known, is described here.
The initial stage of ribosome biogenesis is the transcription of ribosomal RNA (rRNA) genes. RNA polymerase I transcribes a large rRNA precursor that contains the mature 18S, 5.8S and 28S rRNAs, separated by internal (ITS) and flanked by external transcribed spacers (ETS). Of the three, 18S is the rRNA of the 40S subunit; the 5S rRNA component of the 60S subunit is transcribed by RNA polymerase III. As is transcribed, pre-rRNA associates co-transcriptionally with a subset of ribosomal and trans-acting proteins, with small nucleolar ribonucleotide particles (snoRNPs), folds and is subject to modifications while several endo- and exo-nucleolytic cleavage reactions will sequentially eliminate the spacers. Pre-rRNA maturation - the removal of internal and external spacers, is embedded within ribosome biogenesis. It starts with processing at the 5'-ETS site(s); the cleavage of an initial 90S pre-ribosome in the ITS1 spacer, produces the pre-40S and pre-60S ribosomal particles. From this point on, the two pre-ribosomal particles follow independent biogenesis and transport routes. The pre-40S undergoes relatively few compositional changes and is rapidly transported to the cytoplasm. In contrast, pre-60S associates with many trans-acting factors which, at various points during its biogenesis, are released and recycled. Site-specific pseudouridine formation and 2'-O-methylation of residues in regions important for ribosome function, are carried out by small nucleolar RNPs (snoRNPs). The presence of some is also required for initial cleavage reactions. The pol III transcribed 5S pre-rRNA is subject to 3'-exonuclease activity and assembles with a number of binding partners before joining the pre- 60S subunit either immediately delivered to the ribosome or arriving from a cytoplasmic pool. The ribosomal proteins of the small and large subunits assemble in a hierarchical fashion. Remodeling events along the ribosome maturation routes rely on the action of ATPases, GTPases, helicases, kinases and other protein classes. The two ribosomal subunits, independently exported to the cytoplasm, undergo final maturation. The transcriptionally competent 80S ribosome requires 40S, heavily regulated during the initiation phase of translation and 60S, recruited late during initiation, once the mRNA start codon has been located. Along the way, surveillance mechanisms assure its proper assembly, and the structural and functional integrity or, if necessary, its degradation. Defects in components of ribosome biogenesis result in a number of diseases collectively known as ribosomopathies. Several steps in the pathway are described.
rRNA cleavage and processing
The large pre-rRNA: 5' - ETS - 18S rRNA - ITS1 - 5.8S rRNA - ITS2 - 28S rRNA - 3'-ETS (see top of diagram). Both 5'-ETS and ITS contain several cleavage sites within and alternative routes may be followed (details not shown in diagram). Cleavage and processing of 5¿-ETS and at ITS1 sites mark the early stages of 18S rRNA formation. Factors involved in 5'-ETS processing include small nucleolar RNA particles (snoRNPs), ribosomal proteins and non-ribosomal proteins, exonuclease activities. Many have equivalents to components of the small subunit (SSU) processome identified in yeast.
ITS1 processing is dependent upon several factors of which some are also involved in 5'-ETS processing while others are specific. An important aspect of this step is the separation of 90S into the pre-ribosomal 40S and 60S subunits.
In the maturation of pre-60S, endo-nucleolytic processing of ITS2 and 3'-5' and 5'-3' exonuclease activities give rise to 5.8S and 28S (25S in yeast) rRNAs. Factors involved also include components of the exosome (catalytic Dis3 and associated factors Mpp6, C1D and Sklv2l2 known as Mtr4); some factors also play a role in earlier cleavage/processing steps.
Final cleavage reactions occur in the cytoplasm, carried out by Nob1 and Eri1 for the 40S and 60S particles, respectively.
Modification reactions
Site-specific pseudouridine formation and 2'-O-methylation of residues in regions are important for ribosome function; they are carried out by box H/ACA and box C/D small nucleolar ribonucleoproteins (snoRNPs), respectively. The snoRNAs base-pair with target rRNAs and 'guide' the proteins which organize and position the RNA and assure its proper modification.
U17 is the box H/ACA snoRNA; it contains a pseudouridylation loop within a hairpin structure to an H or ACA box. Four core proteins are within the complex: Nhp2, Nop10, Gar1 and dyskerin in humans, of which dyskerin is the pseudouridylase that catalyzes the uridine to pseudouridine (5-ribosyluracil) conversion. First, the nitrogen-carbon bond that links the base to the sugar (N1-C1') is broken; rotation of the base is followed by formation of a new carbon-carbon bond between the base and the sugar (C5-C1'). An extra hydrogen-bond donor distinguishes pseudouridine from other nucleotide. In eukaryotes, box H/ACA is a double hairpin with an H box in the hinge region and ACA box in the tail region, each with a set of core proteins.
Box C/D snoRNAs contain a C/D motif at their termini and an internal C'/D' motif and each assembles with two copies of the core proteins. Nop56 and Nop58, Nhpx and fibrillarin are the core proteins of which fibrillarin is the 2'-O-methyltransferase. U3 and U14, and U8 and U13 are C/D snoRNAs.
Of note is that both types of complexes also play a role in the cleavage/processing of rRNA.
SnoRNAs are transcribed by RNA polymerase II from introns or independently and the biogenesis of snoRNPs, from processing to assembly and localization, involves the concerted action of many factors.
Ribosomal proteins
Ribosomal proteins are specific for the small and the large subunits and they fulfill important roles in the structural assembly and pre-rRNA processing, nuclear export and proper folding of ribosomal particles. Their assembly along the route of ribosome maturation is hierarchical. While most findings come from yeast studies, experiments carried using mammalian systems including human, point to a similar hierarchical assembly. For instance, for the human ribosomal proteins of the small subunit (RPS,40S), using silencing RNA (siRNA) to target them, two functional groups were identified. One group includes RPSs that assemble with pre-RNA, likely co-transcriptionally, in the early steps of 40S maturation - the 'initiation RPSs' and the other group, required for the later steps, including transport and cytoplasmic processing, includes the 'progression RPSs' (some intermediate stages within). In yeast, the ribosomal proteins of the large subunit (RPL, 60S), show a hierarchical assembly, with various members specifically associated with the early, middle and late stages of 60S maturation. The complement of human RPS and of RPL proteins is evidenced in the structures of 80S ribosome solved by cryo electron microscopy.
Other trans-acting factors
In addition to the box C/D and H/ACA modifying enzymes described above, other factors such as ATPases, GTPases, and helicases, among others, participate in ribosome maturation and biogenesis (most involve 60S biogenesis). Their association and release, activity and role have best been characterized in yeast. It is believed that dissociation of non-ribosomal trans-acting factors is mediated by the activity of these power-consuming entities. For instance, the remodeling activity of Mdn1 ATPase (known as Rea1) within pre-60S may affect the activity of Gnl2 GTPase, among others. Gnl2, whose site overlaps with the export adapter Nmd3, possibly prevents the transport of an 'immature' 60S subunit. Mdn1 mediated structural rearrangements promote the K+-dependent GTPase activity of Gnl2 leading to its release from pre-60S and clearing the way to 60S export.
RNA helicases bind and remodel RNA and RNPs; the ATP-dependent helicase activity unwinds double-stranded RNA and also as act as RNA clamps (annealing). The role of DExD/H-box RNA helicases in both 40S and 60S biogenesis has been evidenced in yeast; the role of mammalian enzymes has been documented for some. Examples include Ddx10, Ddx18, Dhx15 and Dhx37 in 40S biogenesis, Ddx24 and Ddx56 in 60S biogenesis.
Several kinases have been shown to be involved in the maturation of 40S subunit and the recycling of its trans-acting factors. Some trans-acting factors are involved in the maturation of both particles.
Screening of a large panel of human nucleolar proteins identifies a substantial set of processing factors important for ribosome biogenesis. While a good fraction of genes have an yeast ortholog and many exhibit a similar function, a subset of genes have additional or alternative functions, others do not have an ortholog in yeast [check PMID: 23973377, Figure2 and supplemental information].
Nuclear export/transport to the cytoplasm
The transport of pre-40S and pre-60S occurs independently of each other but for both subunits, it is dependent on the GTP/GDP cycle of Ran. Most of what is known comes from yeast studies with relatively little information for the transport of the two subunits in higher eukaryotes. The nuclear export factor Xpo1 (known as Crm1) is required for both pre-40S and pre-60S subunits; pre-60S can also be exported by Xpo5. The adapters for Xpo1 mediated transport appear to be specific for either subunit. Nmd3 is the only adapter for pre-60S subunit while the adapters for pre-40S, better known in yeast, include Ltv1, also involved in pre-40S maturation. Several nucleoporins such as Nup214 and Nup88 are important for transport of human pre-60S; the FG-repeat region of Nup214 acting as binding site for Xpo1. Additional factors found only in higher eukaryotes could play a role in the transport of ribosomal particles based on function and/or location; their involvement remains to be established.
Cytoplasmic maturation, 80S formation, links to translation initiation
Upon nuclear export, the 18S rRNA in 40S and the 5.8 rRNA in 60S undergo final maturation steps carried out by Nob1 and Eri1, respectively. In addition, non-ribosomal proteins that have travelled to the cytoplasm and export factors must be released/recycled.
The formation of 80S is intimately connected to the initiation of translation. The 40S, in association with other factors and part of a 48S initiation complex, scans for the initiating codon (ATG), leading to recruitment of 60S and formation of 80S. Eif6 binds 60S at the interface between 40S and 60S preventing their association. The two subunits can interact in the absence of mRNA forming an inactive 80S ribosome. Phosphorylation of Eif6 leads to its dissociation and formation of the 80S which will then translate and elongate the nascent polypeptide. Gnb2l1, known as Rack1 and an adaptor for PKC enzymes in PKC signaling, binds the 40S ribosomes. Interaction with Eif6 and recruitment of PKC would then promote Eif6 phosphorylation and dissociation from 60S.
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Pathway Diagram:
Genes in Pathway:
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1700009N14Rikl
RIKEN cDNA 1700009N14 gene like
IEA
KEGG
rno:03008
NCBI chr 5:54,456,005...54,457,381
Ensembl chr 5:54,455,893...54,457,677
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Afg2a
AFG2 AAA ATPase homolog A
IEA
KEGG
rno:03008
NCBI chr 2:120,306,417...120,497,707
Ensembl chr 2:120,306,412...120,497,705
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Bms1
BMS1 ribosome biogenesis factor
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 4:151,558,163...151,595,187
Ensembl chr 4:151,558,163...151,595,127
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Bop1
BOP1 ribosomal biogenesis factor
ISO
RGD
PMID:25346433 PMID:23439679
RGD:9999448 , RGD:9999449
NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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Bysl
bystin-like
ISO
RGD
PMID:25346433 PMID:23439679 PMID:24424021
RGD:9999448 , RGD:9999449 , RGD:10002751
NCBI chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339
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C1d
C1D nuclear receptor corepressor
ISO
RGD
PMID:25346433
RGD:9999448
NCBI chr14:91,660,951...91,673,177
Ensembl chr14:91,660,989...91,672,852
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Csnk1d
casein kinase 1, delta
ISO
RGD
PMID:24424021
RGD:10002751
NCBI chr10:106,221,992...106,256,620
Ensembl chr10:106,221,992...106,256,614
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Csnk1e
casein kinase 1, epsilon
ISO
RGD
PMID:24424021
RGD:10002751
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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Csnk2a1
casein kinase 2 alpha 1
IEA
KEGG
rno:03008
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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Csnk2a2
casein kinase 2 alpha 2
IEA
KEGG
rno:03008
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
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Csnk2b
casein kinase 2 beta
IEA
KEGG
rno:03008
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
G
Ddx10
DEAD-box helicase 10
ISO
RGD
PMID:22922795
RGD:10002738
NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
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Ddx18
DEAD-box helicase 18
ISO
RGD
PMID:22922795
RGD:10002738
NCBI chr13:32,729,697...32,743,161
Ensembl chr13:32,729,700...32,743,161
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Ddx24
DEAD-box helicase 24
ISO
RGD
PMID:22922795
RGD:10002738
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
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Ddx56
DEAD-box helicase 56
ISO
RGD
PMID:22922795
RGD:10002738
NCBI chr14:81,112,008...81,122,331
Ensembl chr14:81,112,012...81,122,333
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Dhx15
DEAH-box helicase 15
ISO
RGD
PMID:22922795
RGD:10002738
NCBI chr14:58,787,147...58,825,083
Ensembl chr14:58,787,127...58,825,088
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Dhx37
DEAH-box helicase 37
ISO
RGD
PMID:22922795
RGD:10002738
NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
RGD
PMID:25346433
RGD:9999448
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dkc1
dyskerin pseudouridine synthase 1
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
G
Efl1
elongation factor like GTPase 1
IEA
KEGG
rno:03008
NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
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Eif6
eukaryotic translation initiation factor 6
IEA ISO
KEGG RGD
PMID:19373251
rno:03008, RGD:10002774
NCBI chr 3:144,325,038...144,331,396
Ensembl chr 3:144,325,036...144,331,401
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
IEA
KEGG
rno:03008
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Eri1
exoribonuclease 1
ISO
RGD
PMID:25346433
RGD:9999448
NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226
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Exosc10
exosome component 10
ISO
RGD
PMID:24550520
RGD:9999445
NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940
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Exosc5
exosome component 5
ISO
RGD
PMID:24550520
RGD:9999445
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Fau
FAU ubiquitin like and ribosomal protein S30 fusion
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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Fbl
fibrillarin
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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Fbll1
fibrillarin-like 1
IEA
KEGG
rno:03008
NCBI chr10:20,258,656...20,260,299
Ensembl chr10:20,258,656...20,260,299
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Fcf1
Fcf1 rRNA-processing protein
ISO
RGD
PMID:24550520
RGD:9999445
NCBI chr 6:104,617,780...104,629,643
Ensembl chr 6:104,617,770...104,629,643
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Gar1
GAR1 ribonucleoprotein
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr 2:218,375,231...218,382,509
Ensembl chr 2:218,375,353...218,382,524
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Gnl2
G protein nucleolar 2
IEA ISO
KEGG RGD
PMID:24240281
rno:03008, RGD:10002740
NCBI chr 5:137,293,141...137,318,528
Ensembl chr 5:137,293,081...137,318,526
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Gnl3
G protein nucleolar 3
IEA
KEGG
rno:03008
NCBI chr16:6,207,402...6,213,491
Ensembl chr16:6,207,402...6,213,392
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Gnl3l
G protein nucleolar 3 like
IEA
KEGG
rno:03008
NCBI chr X:19,961,277...19,994,454
Ensembl chr X:19,958,603...19,994,508
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Gtpbp4
GTP binding protein 4
IEA
KEGG
rno:03008
NCBI chr17:61,308,033...61,328,184
Ensembl chr17:61,308,014...61,418,009
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Heatr1
HEAT repeat containing 1
IEA
KEGG
rno:03008
NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948
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Imp3
IMP U3 small nucleolar ribonucleoprotein 3
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
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Imp4
IMP U3 small nucleolar ribonucleoprotein 4
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 9:36,654,127...36,659,265
Ensembl chr 9:36,654,401...36,660,075
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Lsg1
large 60S subunit nuclear export GTPase 1
IEA
KEGG
rno:03008
NCBI chr11:70,132,919...70,168,526
Ensembl chr11:70,143,847...70,168,518
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Ltv1
LTV1 ribosome biogenesis factor
ISO
RGD
PMID:20137954 PMID:24424021
RGD:10002748 , RGD:10002751
NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563
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Mdn1
midasin AAA ATPase 1
IEA ISO
KEGG RGD
PMID:21763358
rno:03008, RGD:10002739
NCBI chr 5:47,055,435...47,190,426
Ensembl chr 5:47,055,447...47,186,332
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Mphosph10
M-phase phosphoprotein 10
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 1:117,948,134...117,964,149
Ensembl chr 1:117,948,134...117,964,149
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Mtrex
Mtr4 exosome RNA helicase
ISO
RGD
PMID:24550520
RGD:9999445
NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627
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Nhp2
NHP2 ribonucleoprotein
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545
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Nmd3
NMD3 ribosome export adaptor
IEA ISO
KEGG RGD
PMID:17509569 PMID:20137954
rno:03008, RGD:10002749 , RGD:10002748
NCBI chr 2:154,012,973...154,038,466
Ensembl chr 2:154,013,020...154,039,259
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Nob1
NIN1 (RPN12) binding protein 1 homolog
IEA ISO
KEGG RGD
PMID:23439679 PMID:25346433 PMID:24424021
rno:03008, RGD:9999449 , RGD:9999448 , RGD:10002751
NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
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Nol12
nucleolar protein 12
ISO
RGD
PMID:25346433 PMID:23439679
RGD:9999448 , RGD:9999449
NCBI chr 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907
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Nop10
NOP10 ribonucleoprotein
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Nop56
NOP56 ribonucleoprotein
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
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Nop58
NOP58 ribonucleoprotein
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Nup214
nucleoporin 214
ISO
RGD
PMID:17509569
RGD:10002749
NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Nup88
nucleoporin 88
ISO
RGD
PMID:17509569
RGD:10002749
NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
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Nvl
nuclear VCP-like
IEA
KEGG
rno:03008
NCBI chr13:92,851,023...92,906,749
Ensembl chr13:92,853,650...92,906,049
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Nxf1
nuclear RNA export factor 1
IEA
KEGG
rno:03008
NCBI chr 1:205,655,442...205,668,637
Ensembl chr 1:205,655,375...205,668,636
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Nxf3
nuclear RNA export factor 3
IEA
KEGG
rno:03008
NCBI chr X:99,025,901...99,050,409
Ensembl chr X:99,025,901...99,039,261
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Nxf7
nuclear RNA export factor 7
IEA
KEGG
rno:03008
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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Nxt1
nuclear transport factor 2-like export factor 1
IEA
KEGG
rno:03008
NCBI chr 3:136,108,975...136,111,897
Ensembl chr 3:136,108,862...136,111,907
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Nxt2
nuclear transport factor 2-like export factor 2
IEA
KEGG
rno:03008
NCBI chr X:105,855,616...105,862,902
Ensembl chr X:105,855,608...105,862,899
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Pals2
protein associated with LIN7 2, MAGUK p55 family member
ISO
RGD
PMID:25346433
RGD:9999448
NCBI chr 4:79,173,488...79,257,542
Ensembl chr 4:79,124,806...79,254,140
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Pdcd11
programmed cell death 11
ISO
RGD
PMID:23439679
RGD:9999449
NCBI chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999
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Pes1
pescadillo ribosomal biogenesis factor 1
ISO
RGD
PMID:25346433
RGD:9999448
NCBI chr14:78,850,754...78,867,134
Ensembl chr14:78,850,709...78,867,134
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Pno1
partner of NOB1 homolog
ISO
RGD
PMID:24424021
RGD:10002751
NCBI chr14:91,609,711...91,618,280
Ensembl chr14:91,609,233...91,618,324
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
IEA
KEGG
rno:03008
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Pop4
POP4 homolog, ribonuclease P/MRP subunit
IEA
KEGG
rno:03008
NCBI chr 1:90,960,026...90,968,360
Ensembl chr 1:90,960,022...90,968,443
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Pop5
POP5 homolog, ribonuclease P/MRP subunit
IEA
KEGG
rno:03008
NCBI chr12:41,376,755...41,384,882
Ensembl chr12:41,376,755...41,381,336
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Pop7
POP7 homolog, ribonuclease P/MRP subunit
IEA
KEGG
rno:03008
NCBI chr12:19,189,384...19,190,425
Ensembl chr12:19,189,138...19,190,674
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Prkcb
protein kinase C, beta
ISO
RGD
PMID:19373251
RGD:10002774
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Pwp2
PWP2, small subunit processome component
IEA
KEGG
rno:03008
NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
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Rack1
receptor for activated C kinase 1
ISO
RGD
PMID:19373251
RGD:10002774
NCBI chr10:33,169,415...33,174,896
Ensembl chr10:33,169,169...33,174,975
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Ran
RAN, member RAS oncogene family
IEA ISO
KEGG RGD
PMID:17509569
rno:03008, RGD:10002749
NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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Rasl2-9
RAS-like, family 2, locus 9
IEA
KEGG
rno:03008
NCBI chr 1:68,720,879...68,734,930
Ensembl chr 1:68,720,879...68,722,057
G
Rbm28
RNA binding motif protein 28
IEA ISO
KEGG RGD
PMID:23439679
rno:03008, RGD:9999449
NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653
G
Rcl1
RNA terminal phosphate cyclase-like 1
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 1:226,824,561...226,869,046
Ensembl chr 1:226,824,534...226,902,315
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Rexo1
RNA exonuclease 1 homolog
IEA
KEGG
rno:03008
NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454
G
Rexo1l1-ps1
REX1, RNA exonuclease 1 homolog-like 1, pseudogene 1
IEA
KEGG
rno:03008
NCBI chr 2:138,834,049...138,838,838
Ensembl chr 2:138,834,559...138,837,083
G
Rexo2
RNA exonuclease 2
IEA
KEGG
rno:03008
NCBI chr 8:48,811,900...48,823,622
Ensembl chr 8:48,811,900...48,823,622
G
Rexo5
RNA exonuclease 5
IEA
KEGG
rno:03008
NCBI chr 1:174,168,633...174,264,526
Ensembl chr 1:174,168,694...174,241,486
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Riok1
RIO kinase 1
IEA ISO
KEGG RGD
PMID:24424021
rno:03008, RGD:10002751
NCBI chr17:26,767,440...26,789,900
Ensembl chr17:26,766,947...26,789,900
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Riok2
RIO kinase 2
IEA ISO
KEGG RGD
PMID:24424021
rno:03008, RGD:10002751
NCBI chr 1:58,103,132...58,119,397
Ensembl chr 1:58,103,084...58,120,512
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Riok3
RIO kinase 3
ISO
RGD
PMID:24424021
RGD:10002751
NCBI chr18:3,327,776...3,353,350
Ensembl chr18:3,327,776...3,353,343
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Rpl10
ribosomal protein L10
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Rpl10a
ribosomal protein L10A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr20:6,388,800...6,391,358
Ensembl chr20:6,385,823...6,391,357
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Rpl11
ribosomal protein L11
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
G
Rpl12
ribosomal protein L12
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
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Rpl13
ribosomal protein L13
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Rpl13a
ribosomal protein L13A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 1:95,609,374...95,612,557
Ensembl chr 1:95,609,370...95,620,463
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Rpl14
ribosomal protein L14
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 8:120,286,035...120,289,160
Ensembl chr 8:120,284,645...120,289,064
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Rpl15
ribosomal protein L15
ISO
RGD
PMID:25346433 PMID:23636399
RGD:9999448 , RGD:10002762
NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
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Rpl17
ribosomal protein L17
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr18:68,581,141...68,584,253
Ensembl chr18:68,581,098...68,584,253
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Rpl18
ribosomal protein L18
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452
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Rpl18a
ribosomal protein L18A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546
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Rpl19
ribosomal protein L19
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
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Rpl21
ribosomal protein L21
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr12:8,268,641...8,272,278
Ensembl chr12:8,267,196...8,272,281 Ensembl chr 3:8,267,196...8,272,281 Ensembl chr13:8,267,196...8,272,281
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Rpl22
ribosomal protein L22
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 5:162,835,241...162,843,394
Ensembl chr 5:162,833,740...162,843,368 Ensembl chr 7:162,833,740...162,843,368 Ensembl chr 4:162,833,740...162,843,368
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Rpl23
ribosomal protein L23
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr10:82,771,878...82,775,840
Ensembl chr10:82,771,538...82,775,870
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Rpl23a
ribosomal protein L23A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr10:63,076,660...63,079,346
Ensembl chr10:63,076,066...63,079,346
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Rpl24
ribosomal protein L24
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370
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Rpl26
ribosomal protein L26
ISO
RGD
PMID:25346433 PMID:23636399
RGD:9999448 , RGD:10002762
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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Rpl27
ribosomal protein L27
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193
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Rpl27a
ribosomal protein L27A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 1:163,539,732...163,542,771
G
Rpl28
ribosomal protein L28
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 1:69,052,148...69,054,735
Ensembl chr 1:69,053,203...69,055,032
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Rpl29
ribosomal protein L29
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 8:107,068,929...107,070,963
Ensembl chr 8:107,068,480...107,070,914
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Rpl3
ribosomal protein L3
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 7:111,622,255...111,627,640
Ensembl chr 7:111,621,610...111,636,468
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Rpl30
ribosomal protein L30
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 7:65,648,266...65,651,401
Ensembl chr 7:65,645,991...65,651,363 Ensembl chr10:65,645,991...65,651,363 Ensembl chr10:65,645,991...65,651,363
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Rpl31
ribosomal protein L31
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 9:41,647,397...41,651,441
Ensembl chr 9:41,647,426...41,662,129
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Rpl32
ribosomal protein L32
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 4:148,864,048...148,867,612
Ensembl chr 4:148,864,044...148,867,612
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Rpl34
ribosomal protein L34
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 2:219,284,373...219,288,108
Ensembl chr 2:219,284,382...219,288,111
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Rpl35
ribosomal protein L35
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 3:22,753,255...22,756,217
Ensembl chr 3:22,753,253...22,756,243
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Rpl35a
ribosomal protein L35A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942 Ensembl chr 5:67,726,032...67,729,942
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Rpl36
ribosomal protein L36
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 9:1,441,986...1,447,397
Ensembl chr 6:98,809,534...98,809,897
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Rpl36a
ribosomal protein L36A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
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Rpl37
ribosomal protein L37
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 2:54,215,469...54,217,429
Ensembl chr 2:54,215,469...54,217,442
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Rpl37a
ribosomal protein L37A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 9:74,298,843...74,300,926
G
Rpl37l1
ribosomal protein L37-like 1
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr10:61,033,799...61,034,157
Ensembl chr10:61,033,797...61,034,168 Ensembl chr 9:61,033,797...61,034,168
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Rpl38
ribosomal protein L38
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr10:99,701,330...99,705,004
Ensembl chr10:99,701,362...99,705,004 Ensembl chr14:99,701,362...99,705,004 Ensembl chr 3:99,701,362...99,705,004 Ensembl chr 2:99,701,362...99,705,004 Ensembl chr16:99,701,362...99,705,004
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Rpl39
ribosomal protein L39
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692 Ensembl chr X:6,326,330...6,326,692
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Rpl4
ribosomal protein L4
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
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Rpl5
ribosomal protein L5
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Rpl6
ribosomal protein L6
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921
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Rpl7
ribosomal protein L7
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 5:3,217,184...3,220,192
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Rpl7a
ribosomal protein L7A
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
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Rpl8
ribosomal protein L8
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 7:108,626,194...108,628,485
Ensembl chr 7:108,622,324...108,628,482 Ensembl chr 3:108,622,324...108,628,482
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Rpl9
ribosomal protein L9
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136 Ensembl chr 3:42,893,942...42,897,136
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Rplp0
ribosomal protein lateral stalk subunit P0
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr12:41,054,363...41,057,632
Ensembl chr12:41,054,179...41,057,632
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Rplp1
ribosomal protein lateral stalk subunit P1
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 8:62,394,008...62,395,341
Ensembl chr 8:62,393,177...62,395,339
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Rplp2
ribosomal protein lateral stalk subunit P2
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
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Rpp25
ribonuclease P and MRP subunit p25
IEA
KEGG
rno:03008
NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732
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Rpp30
ribonuclease P/MRP subunit p30
IEA
KEGG
rno:03008
NCBI chr 1:233,786,048...233,808,958
Ensembl chr 1:233,786,099...233,808,952
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Rpp38
ribonuclease P/MRP subunit p38
IEA
KEGG
rno:03008
NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431
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Rpp40
ribonuclease P/MRP subunit p40
IEA
KEGG
rno:03008
NCBI chr17:28,947,752...28,956,788
Ensembl chr17:28,947,734...28,956,788
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Rps10
ribosomal protein S10
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
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Rps11
ribosomal protein S11
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:95,605,690...95,607,798
Ensembl chr 1:95,605,692...95,607,874
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Rps12
ribosomal protein S12
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:21,680,854...21,683,010
Ensembl chr 1:21,680,852...21,683,014
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Rps13
ribosomal protein S13
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:170,572,925...170,575,355
Ensembl chr 1:170,572,921...170,575,355 Ensembl chr 3:170,572,921...170,575,355
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Rps14
ribosomal protein S14
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
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Rps15
ribosomal protein S15
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
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Rps15a
ribosomal protein S15a
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995
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Rps16
ribosomal protein S16
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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Rps17
ribosomal protein S17
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 RGD:10002762
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
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Rps18
ribosomal protein S18
ISO
RGD
PMID:25346433 PMID:20819938 PMID:23636399
RGD:9999448 , RGD:10002730 , RGD:10002762
NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146 Ensembl chr20:101,204,500...101,205,146
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Rps19
ribosomal protein S19
ISO
RGD
PMID:25346433 PMID:23439679 PMID:20819938 PMID:23636399
RGD:9999448 , RGD:9999449 , RGD:10002730 , RGD:10002762
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Rps2
ribosomal protein S2
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
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Rps20
ribosomal protein S20
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 5:16,819,095...16,820,476
Ensembl chr 5:16,819,304...16,820,475 Ensembl chr 9:16,819,304...16,820,475 Ensembl chr 3:16,819,304...16,820,475
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Rps21
ribosomal protein S21
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 3:167,346,437...167,347,459
Ensembl chr 3:167,346,201...167,347,470
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Rps21-ps1
ribosomal protein S21, pseudogene 1
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 RGD:10002762
NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
G
Rps23
ribosomal protein S23
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
G
Rps24
ribosomal protein S24
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Rps25
ribosomal protein s25
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
G
Rps26
ribosomal protein S26
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 7:1,057,332...1,058,882
G
Rps27
ribosomal protein S27
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
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Rps27a
ribosomal protein S27a
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr14:103,285,734...103,288,011
Ensembl chr14:103,285,734...103,288,011 Ensembl chr 5:103,285,734...103,288,011
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Rps27l
ribosomal protein S27-like
ISO
RGD
PMID:20819938
RGD:10002730
NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418
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Rps28
ribosomal protein S28
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170
G
Rps29
ribosomal protein S29
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
G
Rps3
ribosomal protein S3
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
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Rps3a
ribosomal protein S3a
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 2:171,524,685...171,529,054
Ensembl chr 2:171,524,500...171,529,055
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Rps4x
ribosomal protein S4, X-linked
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr X:67,298,522...67,302,965
Ensembl chr X:67,298,525...67,303,019 Ensembl chr 4:67,298,525...67,303,019
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Rps4y2
ribosomal protein S4, Y-linked 2
ISO
RGD
PMID:20819938
RGD:10002730
NCBI chr 4:181,269,507...181,270,440
Ensembl chr 4:181,269,081...181,270,349
G
Rps5
ribosomal protein S5
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 1:73,538,776...73,543,073
Ensembl chr 1:73,538,776...73,543,073
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Rps6
ribosomal protein S6
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 RGD:10002762
NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602 Ensembl chr 5:101,371,136...101,374,602
G
Rps7
ribosomal protein S7
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
G
Rps8
ribosomal protein S8
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268
G
Rps9
ribosomal protein S9
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 RGD:10002762
NCBI chr 1:65,511,723...65,515,076
Ensembl chr 1:65,511,723...65,515,123
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Rpsa
ribosomal protein SA
ISO
RGD
PMID:20819938 PMID:23636399
RGD:10002730 , RGD:10002762
NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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Rrp12
ribosomal RNA processing 12
ISO
RGD
PMID:24424021
RGD:10002751
NCBI chr 1:240,672,378...240,705,992
Ensembl chr 1:240,672,382...240,706,018
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Rrp7a
ribosomal RNA processing 7 homolog A
IEA
KEGG
rno:03008
NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
G
Sbds
Sbds, ribosome maturation factor
IEA
KEGG
rno:03008
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Snu13
small nuclear ribonucleoprotein 13
IEA ISO
KEGG RGD
PMID:22065625
rno:03008, RGD:9999451
NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872 Ensembl chr 1:113,565,295...113,570,872
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Snu13l1
small nuclear ribonucleoprotein 13 like 1
IEA
KEGG
rno:03008
NCBI chr X:150,624,087...150,624,525
Ensembl chr X:150,624,087...150,624,473
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Taf9
TATA-box binding protein associated factor 9
IEA
KEGG
rno:03008
NCBI chr 2:31,794,316...31,798,324
Ensembl chr 2:31,794,142...31,798,769
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Tbl3
transducin (beta)-like 3
IEA
KEGG
rno:03008
NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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Tcof1
treacle ribosome biogenesis factor 1
IEA
KEGG
rno:03008
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
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Uba52
ubiquitin A-52 residue ribosomal protein fusion product 1
ISO
RGD
PMID:23636399
RGD:10002762
NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807
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Utp14a
UTP14A small subunit processome component
IEA
KEGG
rno:03008
NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633
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Utp15
UTP15, small subunit processome component
IEA
KEGG
rno:03008
NCBI chr 2:29,594,405...29,612,819
Ensembl chr 2:29,594,941...29,612,773
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Utp18
UTP18 small subunit processome component
IEA
KEGG
rno:03008
NCBI chr10:78,811,879...78,839,338
Ensembl chr10:78,811,880...78,839,627
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Utp23
UTP23, small subunit processome component
ISO
RGD
PMID:24550520
RGD:9999445
NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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Utp4
UTP4 small subunit processome component
IEA
KEGG
rno:03008
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Utp6
UTP6 small subunit processome component
IEA
KEGG
rno:03008
NCBI chr10:64,897,321...64,927,997
Ensembl chr10:64,897,328...64,927,997
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Wdr3
WD repeat domain 3
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 2:187,505,816...187,528,432
Ensembl chr 2:187,505,816...187,528,432
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Wdr43
WD repeat domain 43
IEA
KEGG
rno:03008
NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846
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Wdr75
WD repeat domain 75
IEA
KEGG
rno:03008
NCBI chr 9:47,903,214...47,933,399
Ensembl chr 9:47,903,200...47,933,399
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Xpo1
exportin 1
IEA ISO
KEGG RGD
PMID:17509569 PMID:25802992
rno:03008, RGD:10002749 , RGD:10002750
NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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Xpo5
exportin 5
ISO
RGD
PMID:25802992
RGD:10002750
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Xrn1
5'-3' exoribonuclease 1
IEA
KEGG
rno:03008
NCBI chr 8:96,527,871...96,637,385
Ensembl chr 8:96,528,195...96,632,739
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Xrn2
5'-3' exoribonuclease 2
IEA ISO
KEGG RGD
PMID:24550520
rno:03008, RGD:9999445
NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
Pathway Gene Annotations
Disease Annotations Associated with Genes in the ribosome biogenesis pathway
Afg2a epilepsy , genetic disease , neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities , Neurodevelopmental Disorders , schizophrenia Bms1 ectodermal dysplasia , genetic disease , nonsyndromic aplasia cutis congenita Bop1 Brown-Vialetto-Van Laere syndrome 2 , Disease Progression , epidermolysis bullosa simplex with muscular dystrophy , genetic disease , holoprosencephaly , Stomach Neoplasms Bysl Brain Injuries , genetic disease , infantile Refsum disease , Zellweger syndrome C1d genetic disease Csnk1d advanced sleep phase syndrome 1 , advanced sleep phase syndrome 2 , Alzheimer's disease , genetic disease Csnk1e adenylosuccinase lyase deficiency , Alzheimer's disease , Cardiac Arrhythmias , developmental and epileptic encephalopathy 1 , Emery-Dreifuss muscular dystrophy , genetic disease , invasive ductal carcinoma , myoclonic dystonia 26 , neurodegeneration with brain iron accumulation 2A Csnk2a1 adult T-cell leukemia/lymphoma , autism spectrum disorder , breast cancer , Brown-Vialetto-Van Laere syndrome 1 , Developmental Disease , Experimental Mammary Neoplasms , genetic disease , intellectual disability , myocardial infarction , Neurodevelopmental Disorders , Okur-Chung Neurodevelopmental Syndrome , Oxygen-Induced Retinopathy , Polyglucosan Body Myopathy 1 with or without Immunodeficiency , Skin Neoplasms , squamous cell carcinoma Csnk2a2 Bardet-Biedl syndrome , developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , genetic disease , male infertility , Oxygen-Induced Retinopathy , Skin Neoplasms , squamous cell carcinoma Csnk2b adult T-cell leukemia/lymphoma , autism spectrum disorder , autosomal dominant intellectual developmental disorder , enophthalmos , epilepsy , genetic disease , Hypoglossal Nerve Injuries , intellectual disability , leiomyoma , Malocclusion, Angle Class III , megacolon , myocardial infarction , Neurodevelopmental Disorders , Oxygen-Induced Retinopathy , POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME , proteasome-associated autoinflammatory syndrome 1 , Skin Neoplasms , squamous cell carcinoma , syndactyly Ddx10 ataxia telangiectasia , Chromosome 11, Partial Trisomy 11q , genetic disease , intellectual disability , Neurodevelopmental Disorders Ddx18 genetic disease Ddx24 achondrogenesis type IA , DICER1 syndrome , genetic disease , pleuropulmonary blastoma Ddx56 genetic disease , pleomorphic xanthoastrocytoma Dhx15 acute myeloid leukemia , epilepsy , genetic disease Dhx37 Anorchia , coloboma of optic nerve , epilepsy , genetic disease , intellectual disability , NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES , Neurodevelopmental Disorders Dis3 chromosome 13q14 deletion syndrome , genetic disease , multiple myeloma , Perlman syndrome Dkc1 adrenoleukodystrophy , anemia , aplastic anemia , autistic disorder , B-Cell Chronic Lymphocytic Leukemia , Barth syndrome , Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 , cerebellar hypoplasia , cerebral creatine deficiency syndrome 1 , disease of cellular proliferation , dyskeratosis congenita , Emery-Dreifuss muscular dystrophy , favism , genetic disease , Hoyeraal Hreidarsson Syndrome , immunodeficiency 33 , lymphopenia , paraplegia , periventricular nodular heterotopia , primary immunodeficiency disease , pulmonary fibrosis , Splenomegaly , X-linked dyskeratosis congenita Efl1 Bloom syndrome , colorectal cancer , genetic disease , high grade glioma , Shwachman-Diamond Syndrome 2 Eif6 bladder exstrophy-epispadias-cloacal exstrophy complex , Breast Neoplasms , genetic disease , human immunodeficiency virus infectious disease Emg1 Bowen-Conradi syndrome , developmental and epileptic encephalopathy 21 , genetic disease , human immunodeficiency virus infectious disease , Hyperphosphatemic Familial Tumoral Calcinosis 1 , Klippel-Feil syndrome 3 , lymphoproliferative syndrome 2 , peroxisome biogenesis disorder 2B , Temtamy syndrome Eri1 amenorrhea , Developmental Disabilities , genetic disease , Hoxha-Aliu syndrome , Neurodevelopmental Disorders , Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type Exosc10 Charcot-Marie-Tooth disease type 2 , chromosome 1p36 deletion syndrome , Familial Atrial Fibrillation 6 , genetic disease , immunodeficiency 14 Exosc5 Carpenter Syndrome 2 , CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS , congenital hypoplastic anemia , craniosynostosis , Diamond-Blackfan anemia , Disease Progression , genetic disease , maple syrup urine disease , Stomach Neoplasms Fau Bardet-Biedl syndrome , genetic disease , glycogen storage disease V , high grade glioma , intellectual disability , leukocyte adhesion deficiency 3 Fbl Animal Disease Models , autoimmune disease , Breast Neoplasms , Carpenter Syndrome 2 , congenital hypoplastic anemia , craniosynostosis , Diamond-Blackfan anemia , genetic disease , lung adenocarcinoma , maple syrup urine disease , maturity-onset diabetes of the young type 1 , type 2 diabetes mellitus Fcf1 genetic disease , intellectual disability Gar1 Animal Disease Models , dyskeratosis congenita , genetic disease , hematopoietic system disease , lung adenocarcinoma Gnl2 Charcot-Marie-Tooth disease dominant intermediate C , genetic disease Gnl3 congenital disorder of glycosylation In , genetic disease Gnl3l autistic disorder , Cornelia de Lange syndrome 2 , genetic disease , syndromic X-linked intellectual disability Lubs type Gtpbp4 end stage renal disease , genetic disease Heatr1 gastrointestinal stromal tumor , genetic disease , glioblastoma , pancreatic ductal carcinoma , parathyroid carcinoma Imp3 Bloom syndrome , chromosome 15q24 deletion syndrome , colorectal cancer , epilepsy , genetic disease , schizophrenia Imp4 genetic disease Lsg1 Brain Injuries , genetic disease Ltv1 familial hemophagocytic lymphohistiocytosis 4 , genetic disease , inflammatory poikiloderma with hair abnormalities and acral keratoses Mdn1 genetic disease , long QT syndrome Mphosph10 dystonia , genetic disease , Methylmalonyl-CoA Epimerase Deficiency Mtrex amyotrophic lateral sclerosis , genetic disease , Marfanoid Mental Retardation Syndrome, Autosomal , Neurodevelopmental Disorders Nhp2 Autosomal Recessive Dyskeratosis Congenita , autosomal recessive dyskeratosis congenita 1 , autosomal recessive dyskeratosis congenita 2 , dyskeratosis congenita , Ehlers-Danlos syndrome dermatosparaxis type , Ehlers-Danlos syndrome spondylodysplastic type 2 , genetic disease , Sotos syndrome Nmd3 genetic disease , prostate cancer Nob1 autosomal dominant dyskeratosis congenita 6 , genetic disease , Hearing Loss, Noise-Induced Nol12 adenylosuccinase lyase deficiency , Emery-Dreifuss muscular dystrophy , genetic disease , myoclonic dystonia 26 , neurodegeneration with brain iron accumulation 2A Nop10 agenesis of the corpus callosum with peripheral neuropathy , Autosomal Recessive Dyskeratosis Congenita , autosomal recessive dyskeratosis congenita 1 , Bloom syndrome , Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 , colorectal cancer , dyskeratosis congenita , Hereditary Neoplastic Syndromes , hypertrophic cardiomyopathy 11 , Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 Nop56 Animal Disease Models , cerebellar ataxia , Disease Progression , genetic disease , Huntington's disease-like 1 , lung adenocarcinoma , pantothenate kinase-associated neurodegeneration , spinocerebellar ataxia type 36 , Spinocerebellar Ataxias , Stomach Neoplasms Nop58 Animal Disease Models , autoimmune lymphoproliferative syndrome type 2B , Autoimmune Lymphoproliferative Syndrome, Type V , common variable immunodeficiency 1 , genetic disease , lung adenocarcinoma , Neurodevelopmental Disorders , primary pulmonary hypertension , Primary Pulmonary Hypertension, 1 , Pulmonary Arterial Hypertension Nup214 acute lymphoblastic leukemia , acute myeloid leukemia , autosomal recessive limb-girdle muscular dystrophy type 2K , brain disease , Developmental Disabilities , Developmental Disease , ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 , Facies , genetic disease , Growth Disorders , microcephaly , primary coenzyme Q10 deficiency 7 Nup88 developmental and epileptic encephalopathy 25 , fetal akinesia deformation sequence syndrome 4 , genetic disease , human immunodeficiency virus infectious disease Nvl gastrointestinal stromal tumor , genetic disease , parathyroid carcinoma Nxf1 genetic disease , intellectual disability , leukocyte adhesion deficiency 3 Nxf3 autistic disorder , genetic disease , syndromic X-linked intellectual disability Lubs type Nxf7 autistic disorder , developmental and epileptic encephalopathy 9 , focal segmental glomerulosclerosis , genetic disease , isolated growth hormone deficiency type III , syndromic X-linked intellectual disability Lubs type Nxt1 genetic disease Nxt2 autistic disorder , Charcot-Marie-Tooth disease type X , genetic disease , syndromic X-linked intellectual disability Lubs type Pals2 COVID-19 , genetic disease , pleomorphic xanthoastrocytoma Pdcd11 genetic disease Pes1 cholangiocarcinoma , genetic disease Pno1 genetic disease Pop1 anauxetic dysplasia 1 , anauxetic dysplasia 2 , Cohen syndrome , genetic disease Pop4 genetic disease , Ovarian Neoplasms Pop5 genetic disease Pop7 genetic disease , pleomorphic xanthoastrocytoma Prkcb adult T-cell leukemia/lymphoma , Alzheimer's disease , autistic disorder , Cardiomegaly , Colorectal Neoplasms , congestive heart failure , Diabetic Nephropathies , dilated cardiomyopathy , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Fetal Diseases , genetic disease , Hyperalgesia , hyperglycemia , hypertension , immune system disease , Insulin Resistance , Left Ventricular Hypertrophy , lung non-small cell carcinoma , Myocardial Reperfusion Injury , obesity , sensorineural hearing loss , silicosis , status epilepticus , Stomach Neoplasms , type 2 diabetes mellitus Pwp2 autistic disorder , cataract 9 multiple types , developmental and epileptic encephalopathy 30 , genetic disease , homocystinuria , Neurodevelopmental Disorders , primary ciliary dyskinesia , progressive myoclonus epilepsy Rack1 morphine dependence , Mouth Neoplasms , squamous cell carcinoma , transient cerebral ischemia Ran Animal Mammary Neoplasms , carcinoma , Experimental Mammary Neoplasms , human immunodeficiency virus infectious disease , Keloid , osteoarthritis , sciatic neuropathy , type 1 diabetes mellitus Rbm28 alopecia, neurologic defects, and endocrinopathy syndrome , genetic disease , microcephaly , pleomorphic xanthoastrocytoma Rcl1 Animal Disease Models , chromosome 9p deletion syndrome , genetic disease , lung adenocarcinoma , psychotic disorder Rexo1 cyclic hematopoiesis , genetic disease , Neurodevelopmental Disorders , polycystic ovary syndrome , progressive myoclonus epilepsy 9 Rexo2 Chromosome 11, Partial Trisomy 11q , genetic disease , intellectual disability Rexo5 genetic disease Riok1 genetic disease Riok2 familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes , Neurodevelopmental Disorders Riok3 genetic disease , intellectual disability , Niemann-Pick disease type C1 Rpl10 adrenoleukodystrophy , autistic disorder , Barth syndrome , cerebral creatine deficiency syndrome 1 , dyskeratosis congenita , Emery-Dreifuss muscular dystrophy , favism , genetic disease , immunodeficiency 33 , paraplegia , periventricular nodular heterotopia , Prostatic Neoplasms , severe congenital encephalopathy due to MECP2 mutation , Splenomegaly , syndromic X-linked intellectual disability Lubs type , syndromic X-linked mental retardation 35 , T-cell acute lymphoblastic leukemia Rpl10a Animal Disease Models , genetic disease , lung adenocarcinoma , proteasome-associated autoinflammatory syndrome 1 Rpl11 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency , anemia , Diamond-Blackfan anemia , Diamond-Blackfan anemia 7 , genetic disease , lymphoma , Prostatic Neoplasms , T-cell acute lymphoblastic leukemia Rpl12 developmental and epileptic encephalopathy , developmental and epileptic encephalopathy 31A , early infantile epileptic encephalopathy , genetic disease , Prostatic Neoplasms , systemic lupus erythematosus Rpl13 16Q24.3 Microdeletion Syndrome , autosomal recessive chronic granulomatous disease 4 , Disease Progression , Fanconi anemia , genetic disease , KBG syndrome , primary ciliary dyskinesia 33 , spondyloepimetaphyseal dysplasia , Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type , Stomach Neoplasms Rpl13a Animal Disease Models , developmental and epileptic encephalopathy 12 , genetic disease , lung adenocarcinoma Rpl14 genetic disease , Parkinson's disease , renal cell carcinoma , systemic lupus erythematosus Rpl15 Diamond-Blackfan anemia 12 , Disease Progression , genetic disease , Stomach Neoplasms Rpl17 genetic disease , intellectual disability , Myocardial Ischemia Rpl18 Diamond-Blackfan anemia 18 , Disease Progression , genetic disease , Stomach Neoplasms Rpl18a alcohol use disorder , genetic disease , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 , severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive , Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Rpl19 congenital hypoplastic anemia , Diamond-Blackfan anemia Rpl21 genetic disease , hypotrichosis , hypotrichosis 12 Rpl22 chromosome 1p36 deletion syndrome , genetic disease , Neurodevelopmental Disorders Rpl23 genetic disease Rpl23a Breast Neoplasms , genetic disease , Parkinson's disease Rpl24 gastrointestinal stromal tumor , genetic disease , optic atrophy Rpl26 congenital hypoplastic anemia , Diamond-Blackfan anemia , Diamond-Blackfan anemia 11 , dyskeratosis congenita , Li-Fraumeni syndrome Rpl27 Diamond-Blackfan anemia 16 , genetic disease Rpl27a Animal Disease Models , cerebellar ataxia , genetic disease , Hyperpigmentation , lung adenocarcinoma , pancytopenia Rpl28 genetic disease , middle cerebral artery infarction , Weight Gain Rpl29 genetic disease Rpl3 adenylosuccinase lyase deficiency , Animal Mammary Neoplasms , carcinoma , Experimental Mammary Neoplasms , genetic disease Rpl30 genetic disease , herpes simplex Rpl31 Breast Neoplasms , genetic disease Rpl32 genetic disease Rpl34 genetic disease Rpl35 Diamond-Blackfan anemia 19 , genetic disease Rpl35a Diamond-Blackfan anemia , Diamond-Blackfan anemia 5 , glioblastoma Rpl36 genetic disease , myoepithelioma Rpl36a Animal Disease Models , autistic disorder , developmental and epileptic encephalopathy 9 , Fabry disease , isolated growth hormone deficiency type III , lung adenocarcinoma , ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED , syndromic X-linked intellectual disability Lubs type Rpl37 genetic disease , Neurodevelopmental Disorders Rpl37a genetic disease , Neurodevelopmental Disorders , polycystic ovary syndrome Rpl38 otitis media Rpl39 autistic disorder , genetic disease , syndromic X-linked intellectual disability 14 , syndromic X-linked intellectual disability Cabezas type , syndromic X-linked intellectual disability Lubs type Rpl4 bladder exstrophy-epispadias-cloacal exstrophy complex , Bloom syndrome , colorectal cancer , genetic disease , High Myopia , neuronal ceroid lipofuscinosis , Sepsis Rpl5 aplastic anemia , congenital hypoplastic anemia , Diamond-Blackfan anemia , Diamond-Blackfan anemia 1 , Diamond-Blackfan anemia 6 , genetic disease , glioblastoma , ovarian cyst , severe congenital neutropenia 2 , T-cell acute lymphoblastic leukemia Rpl6 Animal Mammary Neoplasms , carcinoma , Experimental Mammary Neoplasms , genetic disease , metachondromatosis , Noonan syndrome 1 , Noonan syndrome with multiple lentigines 1 , Parkinson's disease , RASopathy Rpl7 genetic disease Rpl7a developmental and epileptic encephalopathy 14 , Ehlers-Danlos syndrome classic type 1 , genetic disease , Leigh disease , primary coenzyme Q10 deficiency 7 , Rafiq syndrome , tuberous sclerosis 1 Rpl8 genetic disease Rpl9 genetic disease , Hyperglycinemia, Lactic Acidosis, and Seizures , Sepsis Rplp0 Down syndrome , genetic disease Rplp1 Bloom syndrome , colorectal cancer , genetic disease Rplp2 Breast Neoplasms , Chanarin-Dorfman syndrome , delta beta-thalassemia , developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , genetic disease , immunodeficiency 39 , neuronal ceroid lipofuscinosis , Segawa Syndrome, Autosomal Recessive Rpp25 autistic disorder , Bloom syndrome , colorectal cancer , genetic disease , schizophrenia Rpp30 genetic disease Rpp38 genetic disease , hypoparathyroidism-deafness-renal disease syndrome , melanoma Rpp40 genetic disease Rps10 congenital hypoplastic anemia , Diamond-Blackfan anemia , Diamond-Blackfan anemia 9 , genetic disease , Liver Failure , proteasome-associated autoinflammatory syndrome 1 Rps11 developmental and epileptic encephalopathy 12 , genetic disease Rps12 genetic disease , Hypertriglyceridemia Rps13 genetic disease , intellectual disability Rps14 Animal Mammary Neoplasms , carcinoma , chromosome 5q deletion syndrome , Experimental Mammary Neoplasms , familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes , Hypoxia , neutropenia Rps15 cerebral creatine deficiency syndrome , cyclic hematopoiesis , Disease Progression , genetic disease , insulinoma , Neurodevelopmental Disorders , Stomach Neoplasms Rps15a Diamond-Blackfan anemia 20 Rps16 Carpenter Syndrome 2 , congenital hypoplastic anemia , craniosynostosis , Diamond-Blackfan anemia , genetic disease , maple syrup urine disease , maturity-onset diabetes of the young type 1 , type 2 diabetes mellitus Rps17 Bloom syndrome , colorectal cancer , Diamond-Blackfan anemia , Diamond-Blackfan anemia 4 Rps18 autosomal dominant intellectual developmental disorder 5 , proteasome-associated autoinflammatory syndrome 1 Rps19 agammaglobulinemia 3 , Carpenter Syndrome 2 , congenital hypoplastic anemia , craniosynostosis , Diamond-Blackfan anemia , Diamond-Blackfan anemia 1 , Disease Progression , hepatoblastoma , maple syrup urine disease , Prostatic Neoplasms , schizophrenia , Stomach Neoplasms Rps2 atrial fibrillation , epilepsy , genetic disease , Hypoxia , idiopathic generalized epilepsy , short-rib thoracic dysplasia 9 with or without polydactyly , tuberous sclerosis 2 Rps20 Diamond-Blackfan anemia , Hereditary Neoplastic Syndromes , Lynch syndrome Rps21-ps1 developmental and epileptic encephalopathy , developmental and epileptic encephalopathy 33 , Disease Progression , early infantile epileptic encephalopathy , genetic disease , neuronal ceroid lipofuscinosis , Stomach Neoplasms Rps23 brachycephaly, trichomegaly, and developmental delay , Neurodevelopmental Disorders Rps24 congenital hypoplastic anemia , Diamond-Blackfan anemia , Diamond-Blackfan anemia 3 , Genitopatellar Syndrome , hypomyelinating leukodystrophy 7 Rps25 CD3epsilon deficiency , Chromosome 11, Partial Trisomy 11q , Dwarfism , genetic disease , glycogen storage disease Ib , immunodeficiency 17 , immunodeficiency 18 , immunodeficiency 19 , inflammatory bowel disease 28 , isolated microphthalmia 5 , long QT syndrome 10 , RASopathy , schizophrenia Rps26 anemia , bone marrow disease , Diamond-Blackfan anemia , Diamond-Blackfan anemia 10 , Diamond-Blackfan anemia 15 with mandibulofacial dysostosis , Disease Progression , Stomach Neoplasms Rps27 Diamond-Blackfan anemia 17 , GAND syndrome , gastrointestinal stromal tumor , immunodeficiency 42 , MHC class II deficiency , parathyroid carcinoma , severe congenital neutropenia 3 , severe congenital neutropenia 5 Rps27a Brain Injuries , genetic disease Rps27l Bloom syndrome , colorectal cancer , genetic disease , hypertrophic cardiomyopathy , nemaline myopathy 6 Rps28 autistic disorder , Diamond-Blackfan anemia 15 with mandibulofacial dysostosis , genetic disease , mucolipidosis type IV , Weight Gain Rps29 Brain-Lung-Thyroid Syndrome , Diamond-Blackfan anemia 13 , genetic disease , primary ciliary dyskinesia Rps3 3-methylglutaconic aciduria type 7b , Chromosomal Instability , genetic disease , intellectual disability , melanoma Rps3a genetic disease Rps4x autistic disorder , Breast Neoplasms , genetic disease , syndromic X-linked intellectual disability Lubs type Rps4y2 autistic disorder , Y-linked spermatogenic failure 2 Rps5 genetic disease Rps6 Breast Neoplasms , Disease Progression , Experimental Autoimmune Myocarditis , genetic disease , Hemimegalencephaly , hepatocellular carcinoma , Liver Failure , Stomach Neoplasms , Temporomandibular Joint Osteoarthritis , transient cerebral ischemia , vascular dementia Rps7 Breast Neoplasms , Diamond-Blackfan anemia , Diamond-Blackfan anemia 8 Rps8 Breast Neoplasms , Charcot-Marie-Tooth disease dominant intermediate C , developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , genetic disease , Parkinson's disease , Weight Gain Rps9 genetic disease , Liver Failure Rpsa Animal Disease Models , arrhythmogenic right ventricular dysplasia 5 , Diamond-Blackfan anemia , irritable bowel syndrome , lung adenocarcinoma , Neoplasm Invasiveness , sciatic neuropathy , Spinal Cord Injuries , Splenic Hypoplasia Rrp12 genetic disease Rrp7a common variable immunodeficiency 4 , Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities , genetic disease , intellectual disability , Primary Autosomal Recessive Microcephaly 28 Sbds Anodontia of Permanent Dentition , aplastic anemia , argininosuccinic aciduria , Dwarfism , enophthalmos , genetic disease , intellectual disability , microcephaly , pleomorphic xanthoastrocytoma , Shwachman-Diamond syndrome , Splenomegaly Snu13 adenylosuccinase lyase deficiency , common variable immunodeficiency 4 Taf9 genetic disease , human immunodeficiency virus infectious disease , Neurodevelopmental Disorders Tbl3 epilepsy , genetic disease , idiopathic generalized epilepsy , short-rib thoracic dysplasia 9 with or without polydactyly , tuberous sclerosis 2 Tcof1 Craniofacial Abnormalities , Crouzon syndrome , familial adenomatous polyposis 1 , genetic disease , Hearing Loss , Hereditary Neoplastic Syndromes , Mandibulofacial Dysostosis , microcephaly , Treacher Collins syndrome , Treacher Collins syndrome 1 Uba52 Brain Injuries , colon carcinoma , Diabetic Nephropathies , Experimental Diabetes Mellitus , genetic disease , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Utp14a autistic disorder , genetic disease , syndromic X-linked intellectual disability Lubs type , syndromic X-linked intellectual disability Raymond type Utp15 genetic disease , Neurodevelopmental Disorders Utp18 genetic disease Utp23 colorectal adenocarcinoma , Cornelia de Lange syndrome 4 , genetic disease , hereditary multiple exostoses , trichorhinophalangeal syndrome type I Utp4 autosomal dominant dyskeratosis congenita 6 , cholestasis , genetic disease , North American Indian Childhood Cirrhosis , primary biliary cholangitis Utp6 cerebral palsy , genetic disease Wdr3 genetic disease , thyroid gland papillary carcinoma Wdr43 genetic disease , Neuroblastoma 3 Wdr75 Ehlers-Danlos syndrome classic type 1 , Ehlers-Danlos Syndrome Type 4 , genetic disease , immunodeficiency 31B , Neurodevelopmental Disorders Xpo1 amenorrhea , atrial fibrillation , B-Cell Chronic Lymphocytic Leukemia , Breast Neoplasms , chronic lymphocytic leukemia , colorectal cancer , colorectal carcinoma , Colorectal Neoplasms , epilepsy , esophagus squamous cell carcinoma , extrahepatic bile duct carcinoma , gastric adenocarcinoma , genetic disease , hepatocellular carcinoma , lung adenocarcinoma , lung carcinoma , lung non-small cell carcinoma , pancreatic cancer , peroxisome biogenesis disorder 11A , prostate adenocarcinoma , Prostatic Neoplasms , schizophrenia , stomach cancer , stomach carcinoma , uterine cancer Xpo5 breast cancer , colorectal cancer , genetic disease , hepatocellular carcinoma , Huntington's disease , infantile Refsum disease , Lead Poisoning , lung non-small cell carcinoma , lung small cell carcinoma , Microsatellite Instability , multiple myeloma , nephroblastoma , nephrotic syndrome type 2 , pancreatic cancer , primary ovarian insufficiency , transitional cell carcinoma , Zellweger syndrome Xrn1 Alzheimer's disease , genetic disease , Staphylococcal Infections Xrn2 adenoid cystic carcinoma , genetic disease , leiomyosarcoma , lung cancer , status epilepticus
16Q24.3 Microdeletion Syndrome Rpl13 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Rpl11 3-methylglutaconic aciduria type 7b Rps3 achondrogenesis type IA Ddx24 acute lymphoblastic leukemia Nup214 acute myeloid leukemia Dhx15 , Nup214 adenoid cystic carcinoma Xrn2 adenylosuccinase lyase deficiency Csnk1e , Nol12 , Rpl3 , Snu13 adrenoleukodystrophy Dkc1 , Rpl10 adult T-cell leukemia/lymphoma Csnk2a1 , Csnk2b , Prkcb advanced sleep phase syndrome 1 Csnk1d advanced sleep phase syndrome 2 Csnk1d agammaglobulinemia 3 Rps19 agenesis of the corpus callosum with peripheral neuropathy Nop10 alcohol use disorder Rpl18a alopecia, neurologic defects, and endocrinopathy syndrome Rbm28 Alzheimer's disease Csnk1d , Csnk1e , Prkcb , Xrn1 amenorrhea Eri1 , Xpo1 amyotrophic lateral sclerosis Mtrex anauxetic dysplasia 1 Pop1 anauxetic dysplasia 2 Pop1 anemia Dkc1 , Rpl11 , Rps26 Animal Disease Models Fbl , Gar1 , Nop56 , Nop58 , Rcl1 , Rpl10a , Rpl13a , Rpl27a , Rpl36a , Rpsa Animal Mammary Neoplasms Ran , Rpl3 , Rpl6 , Rps14 Anodontia of Permanent Dentition Sbds Anorchia Dhx37 aplastic anemia Dkc1 , Rpl5 , Sbds argininosuccinic aciduria Sbds arrhythmogenic right ventricular dysplasia 5 Rpsa ataxia telangiectasia Ddx10 atrial fibrillation Rps2 , Xpo1 autism spectrum disorder Csnk2a1 , Csnk2b autistic disorder Dkc1 , Gnl3l , Nxf3 , Nxf7 , Nxt2 , Prkcb , Pwp2 , Rpl10 , Rpl36a , Rpl39 , Rpp25 , Rps28 , Rps4x , Rps4y2 , Utp14a autoimmune disease Fbl autoimmune lymphoproliferative syndrome type 2B Nop58 Autoimmune Lymphoproliferative Syndrome, Type V Nop58 autosomal dominant dyskeratosis congenita 6 Nob1 , Utp4 autosomal dominant intellectual developmental disorder Csnk2b autosomal dominant intellectual developmental disorder 5 Rps18 autosomal recessive chronic granulomatous disease 4 Rpl13 Autosomal Recessive Dyskeratosis Congenita Nhp2 , Nop10 autosomal recessive dyskeratosis congenita 1 Nhp2 , Nop10 autosomal recessive dyskeratosis congenita 2 Nhp2 autosomal recessive limb-girdle muscular dystrophy type 2K Nup214 B-Cell Chronic Lymphocytic Leukemia Dkc1 , Xpo1 Bardet-Biedl syndrome Csnk2a2 , Fau Barth syndrome Dkc1 , Rpl10 bladder exstrophy-epispadias-cloacal exstrophy complex Eif6 , Rpl4 Bloom syndrome Efl1 , Imp3 , Nop10 , Rpl4 , Rplp1 , Rpp25 , Rps17 , Rps27l bone marrow disease Rps26 Bowen-Conradi syndrome Emg1 brachycephaly, trichomegaly, and developmental delay Rps23 brain disease Nup214 Brain Injuries Bysl , Lsg1 , Rps27a , Uba52 Brain-Lung-Thyroid Syndrome Rps29 breast cancer Csnk2a1 , Xpo5 Breast Neoplasms Eif6 , Fbl , Rpl23a , Rpl31 , Rplp2 , Rps4x , Rps6 , Rps7 , Rps8 , Xpo1 Brown-Vialetto-Van Laere syndrome 1 Csnk2a1 Brown-Vialetto-Van Laere syndrome 2 Bop1 carcinoma Ran , Rpl3 , Rpl6 , Rps14 Cardiac Arrhythmias Csnk1e Cardiomegaly Prkcb Carpenter Syndrome 2 Exosc5 , Fbl , Rps16 , Rps19 cataract 9 multiple types Pwp2 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 Dkc1 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 Nop10 CD3epsilon deficiency Rps25 cerebellar ataxia Nop56 , Rpl27a CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS Exosc5 cerebellar hypoplasia Dkc1 cerebral creatine deficiency syndrome Rps15 cerebral creatine deficiency syndrome 1 Dkc1 , Rpl10 cerebral palsy Utp6 Chanarin-Dorfman syndrome Rplp2 Charcot-Marie-Tooth disease dominant intermediate C Gnl2 , Rps8 Charcot-Marie-Tooth disease type 2 Exosc10 Charcot-Marie-Tooth disease type X Nxt2 cholangiocarcinoma Pes1 cholestasis Utp4 Chromosomal Instability Rps3 Chromosome 11, Partial Trisomy 11q Ddx10 , Rexo2 , Rps25 chromosome 13q14 deletion syndrome Dis3 chromosome 15q24 deletion syndrome Imp3 chromosome 1p36 deletion syndrome Exosc10 , Rpl22 chromosome 5q deletion syndrome Rps14 chromosome 9p deletion syndrome Rcl1 chronic lymphocytic leukemia Xpo1 Cohen syndrome Pop1 coloboma of optic nerve Dhx37 colon carcinoma Uba52 colorectal adenocarcinoma Utp23 colorectal cancer Efl1 , Imp3 , Nop10 , Rpl4 , Rplp1 , Rpp25 , Rps17 , Rps27l , Xpo1 , Xpo5 colorectal carcinoma Xpo1 Colorectal Neoplasms Prkcb , Xpo1 common variable immunodeficiency 1 Nop58 common variable immunodeficiency 4 Rrp7a , Snu13 congenital disorder of glycosylation In Gnl3 congenital hypoplastic anemia Exosc5 , Fbl , Rpl19 , Rpl26 , Rpl5 , Rps10 , Rps16 , Rps19 , Rps24 congestive heart failure Prkcb Cornelia de Lange syndrome 2 Gnl3l Cornelia de Lange syndrome 4 Utp23 COVID-19 Pals2 Craniofacial Abnormalities Tcof1 craniosynostosis Exosc5 , Fbl , Rps16 , Rps19 Crouzon syndrome Tcof1 cyclic hematopoiesis Rexo1 , Rps15 delta beta-thalassemia Rplp2 developmental and epileptic encephalopathy Csnk2a2 , Rpl12 , Rplp2 , Rps21-ps1 , Rps8 developmental and epileptic encephalopathy 1 Csnk1e developmental and epileptic encephalopathy 12 Rpl13a , Rps11 developmental and epileptic encephalopathy 14 Rpl7a developmental and epileptic encephalopathy 21 Emg1 developmental and epileptic encephalopathy 25 Nup88 developmental and epileptic encephalopathy 30 Pwp2 developmental and epileptic encephalopathy 31A Rpl12 developmental and epileptic encephalopathy 33 Rps21-ps1 developmental and epileptic encephalopathy 9 Nxf7 , Rpl36a Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities Rrp7a Developmental Disabilities Eri1 , Nup214 Developmental Disease Csnk2a1 , Nup214 Diabetic Nephropathies Prkcb , Uba52 Diamond-Blackfan anemia Exosc5 , Fbl , Rpl11 , Rpl19 , Rpl26 , Rpl35a , Rpl5 , Rps10 , Rps16 , Rps17 , Rps19 , Rps20 , Rps24 , Rps26 , Rps7 , Rpsa Diamond-Blackfan anemia 1 Rpl5 , Rps19 Diamond-Blackfan anemia 10 Rps26 Diamond-Blackfan anemia 11 Rpl26 Diamond-Blackfan anemia 12 Rpl15 Diamond-Blackfan anemia 13 Rps29 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Rps26 , Rps28 Diamond-Blackfan anemia 16 Rpl27 Diamond-Blackfan anemia 17 Rps27 Diamond-Blackfan anemia 18 Rpl18 Diamond-Blackfan anemia 19 Rpl35 Diamond-Blackfan anemia 20 Rps15a Diamond-Blackfan anemia 3 Rps24 Diamond-Blackfan anemia 4 Rps17 Diamond-Blackfan anemia 5 Rpl35a Diamond-Blackfan anemia 6 Rpl5 Diamond-Blackfan anemia 7 Rpl11 Diamond-Blackfan anemia 8 Rps7 Diamond-Blackfan anemia 9 Rps10 DICER1 syndrome Ddx24 dilated cardiomyopathy Prkcb disease of cellular proliferation Dkc1 Disease Progression Bop1 , Exosc5 , Nop56 , Rpl13 , Rpl15 , Rpl18 , Rps15 , Rps19 , Rps21-ps1 , Rps26 , Rps6 Down syndrome Rplp0 Dwarfism Rps25 , Sbds dyskeratosis congenita Dkc1 , Gar1 , Nhp2 , Nop10 , Rpl10 , Rpl26 dystonia Mphosph10 early infantile epileptic encephalopathy Csnk2a2 , Rpl12 , Rplp2 , Rps21-ps1 , Rps8 ectodermal dysplasia Bms1 Ehlers-Danlos syndrome classic type 1 Rpl7a , Wdr75 Ehlers-Danlos syndrome dermatosparaxis type Nhp2 Ehlers-Danlos syndrome spondylodysplastic type 2 Nhp2 Ehlers-Danlos Syndrome Type 4 Wdr75 Emery-Dreifuss muscular dystrophy Csnk1e , Dkc1 , Nol12 , Rpl10 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 Nup214 end stage renal disease Gtpbp4 enophthalmos Csnk2b , Sbds epidermolysis bullosa simplex with muscular dystrophy Bop1 epilepsy Afg2a , Csnk2b , Dhx15 , Dhx37 , Imp3 , Rps2 , Tbl3 , Xpo1 esophagus squamous cell carcinoma Xpo1 Experimental Autoimmune Myocarditis Rps6 Experimental Diabetes Mellitus Prkcb , Uba52 Experimental Liver Cirrhosis Prkcb Experimental Mammary Neoplasms Csnk2a1 , Ran , Rpl3 , Rpl6 , Rps14 extrahepatic bile duct carcinoma Xpo1 Fabry disease Rpl36a Facies Nup214 familial adenomatous polyposis 1 Riok2 , Rps14 , Tcof1 Familial Atrial Fibrillation 6 Exosc10 familial hemophagocytic lymphohistiocytosis 4 Ltv1 Fanconi anemia Rpl13 favism Dkc1 , Rpl10 fetal akinesia deformation sequence syndrome 4 Nup88 Fetal Diseases Prkcb focal segmental glomerulosclerosis Nxf7 GAND syndrome Rps27 gastric adenocarcinoma Xpo1 gastrointestinal stromal tumor Heatr1 , Nvl , Rpl24 , Rps27 genetic disease Afg2a , Bms1 , Bop1 , Bysl , C1d , Csnk1d , Csnk1e , Csnk2a1 , Csnk2a2 , Csnk2b , Ddx10 , Ddx18 , Ddx24 , Ddx56 , Dhx15 , Dhx37 , Dis3 , Dkc1 , Efl1 , Eif6 , Emg1 , Eri1 , Exosc10 , Exosc5 , Fau , Fbl , Fcf1 , Gar1 , Gnl2 , Gnl3 , Gnl3l , Gtpbp4 , Heatr1 , Imp3 , Imp4 , Lsg1 , Ltv1 , Mdn1 , Mphosph10 , Mtrex , Nhp2 , Nmd3 , Nob1 , Nol12 , Nop56 , Nop58 , Nup214 , Nup88 , Nvl , Nxf1 , Nxf3 , Nxf7 , Nxt1 , Nxt2 , Pals2 , Pdcd11 , Pes1 , Pno1 , Pop1 , Pop4 , Pop5 , Pop7 , Prkcb , Pwp2 , Rbm28 , Rcl1 , Rexo1 , Rexo2 , Rexo5 , Riok1 , Riok2 , Riok3 , Rpl10 , Rpl10a , Rpl11 , Rpl12 , Rpl13 , Rpl13a , Rpl14 , Rpl15 , Rpl17 , Rpl18 , Rpl18a , Rpl21 , Rpl22 , Rpl23 , Rpl23a , Rpl24 , Rpl27 , Rpl27a , Rpl28 , Rpl29 , Rpl3 , Rpl30 , Rpl31 , Rpl32 , Rpl34 , Rpl35 , Rpl36 , Rpl37 , Rpl37a , Rpl39 , Rpl4 , Rpl5 , Rpl6 , Rpl7 , Rpl7a , Rpl8 , Rpl9 , Rplp0 , Rplp1 , Rplp2 , Rpp25 , Rpp30 , Rpp38 , Rpp40 , Rps10 , Rps11 , Rps12 , Rps13 , Rps14 , Rps15 , Rps16 , Rps2 , Rps21-ps1 , Rps25 , Rps27a , Rps27l , Rps28 , Rps29 , Rps3 , Rps3a , Rps4x , Rps5 , Rps6 , Rps8 , Rps9 , Rrp12 , Rrp7a , Sbds , Taf9 , Tbl3 , Tcof1 , Uba52 , Utp14a , Utp15 , Utp18 , Utp23 , Utp4 , Utp6 , Wdr3 , Wdr43 , Wdr75 , Xpo1 , Xpo5 , Xrn1 , Xrn2 Genitopatellar Syndrome Rps24 glioblastoma Heatr1 , Rpl35a , Rpl5 glycogen storage disease Ib Rps25 glycogen storage disease V Fau Growth Disorders Nup214 Hearing Loss Tcof1 Hearing Loss, Noise-Induced Nob1 hematopoietic system disease Gar1 Hemimegalencephaly Rps6 hepatoblastoma Rps19 hepatocellular carcinoma Rps6 , Xpo1 , Xpo5 hereditary multiple exostoses Utp23 Hereditary Neoplastic Syndromes Nop10 , Riok2 , Rps14 , Rps20 , Tcof1 herpes simplex Rpl30 high grade glioma Efl1 , Fau High Myopia Rpl4 holoprosencephaly Bop1 homocystinuria Pwp2 Hoxha-Aliu syndrome Eri1 Hoyeraal Hreidarsson Syndrome Dkc1 human immunodeficiency virus infectious disease Eif6 , Emg1 , Nup88 , Ran , Taf9 Huntington's disease Xpo5 Huntington's disease-like 1 Nop56 Hyperalgesia Prkcb hyperglycemia Prkcb Hyperglycinemia, Lactic Acidosis, and Seizures Rpl9 Hyperphosphatemic Familial Tumoral Calcinosis 1 Emg1 Hyperpigmentation Rpl27a hypertension Prkcb Hypertriglyceridemia Rps12 hypertrophic cardiomyopathy Rps27l hypertrophic cardiomyopathy 11 Nop10 Hypoglossal Nerve Injuries Csnk2b hypomyelinating leukodystrophy 7 Rps24 hypoparathyroidism-deafness-renal disease syndrome Rpp38 hypotrichosis Rpl21 hypotrichosis 12 Rpl21 Hypoxia Rps14 , Rps2 idiopathic generalized epilepsy Rps2 , Tbl3 immune system disease Prkcb immunodeficiency 14 Exosc10 immunodeficiency 17 Rps25 immunodeficiency 18 Rps25 immunodeficiency 19 Rps25 immunodeficiency 31B Wdr75 immunodeficiency 33 Dkc1 , Rpl10 immunodeficiency 39 Rplp2 immunodeficiency 42 Rps27 infantile Refsum disease Bysl , Xpo5 inflammatory bowel disease 28 Rps25 inflammatory poikiloderma with hair abnormalities and acral keratoses Ltv1 Insulin Resistance Prkcb insulinoma Rps15 intellectual disability Csnk2a1 , Csnk2b , Ddx10 , Dhx37 , Fau , Fcf1 , Nxf1 , Rexo2 , Riok3 , Rpl17 , Rps13 , Rps3 , Rrp7a , Sbds invasive ductal carcinoma Csnk1e irritable bowel syndrome Rpsa isolated growth hormone deficiency type III Nxf7 , Rpl36a isolated microphthalmia 5 Rps25 KBG syndrome Rpl13 Keloid Ran Klippel-Feil syndrome 3 Emg1 Lead Poisoning Xpo5 Left Ventricular Hypertrophy Prkcb Leigh disease Rpl7a leiomyoma Csnk2b leiomyosarcoma Xrn2 leukocyte adhesion deficiency 3 Fau , Nxf1 Li-Fraumeni syndrome Rpl26 Liver Failure Rps10 , Rps6 , Rps9 long QT syndrome Mdn1 long QT syndrome 10 Rps25 lung adenocarcinoma Fbl , Gar1 , Nop56 , Nop58 , Rcl1 , Rpl10a , Rpl13a , Rpl27a , Rpl36a , Rpsa , Xpo1 lung cancer Xrn2 lung carcinoma Xpo1 lung non-small cell carcinoma Prkcb , Xpo1 , Xpo5 lung small cell carcinoma Xpo5 lymphoma Rpl11 lymphopenia Dkc1 lymphoproliferative syndrome 2 Emg1 Lynch syndrome Rps20 male infertility Csnk2a2 Malocclusion, Angle Class III Csnk2b Mandibulofacial Dysostosis Tcof1 maple syrup urine disease Exosc5 , Fbl , Rps16 , Rps19 Marfanoid Mental Retardation Syndrome, Autosomal Mtrex maturity-onset diabetes of the young type 1 Fbl , Rps16 megacolon Csnk2b Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Rpl18a , Uba52 melanoma Rpp38 , Rps3 metachondromatosis Rpl6 Methylmalonyl-CoA Epimerase Deficiency Mphosph10 MHC class II deficiency Rps27 microcephaly Nup214 , Rbm28 , Sbds , Tcof1 Microsatellite Instability Xpo5 middle cerebral artery infarction Rpl28 morphine dependence Rack1 Mouth Neoplasms Rack1 mucolipidosis type IV Rps28 multiple myeloma Dis3 , Xpo5 myocardial infarction Csnk2a1 , Csnk2b Myocardial Ischemia Rpl17 Myocardial Reperfusion Injury Prkcb myoclonic dystonia 26 Csnk1e , Nol12 myoepithelioma Rpl36 nemaline myopathy 6 Rps27l Neoplasm Invasiveness Rpsa nephroblastoma Xpo5 nephrotic syndrome type 2 Xpo5 Neuroblastoma 3 Wdr43 neurodegeneration with brain iron accumulation 2A Csnk1e , Nol12 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES Dhx37 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities Afg2a Neurodevelopmental Disorders Afg2a , Csnk2a1 , Csnk2b , Ddx10 , Dhx37 , Eri1 , Mtrex , Nop58 , Pwp2 , Rexo1 , Riok2 , Rpl22 , Rpl37 , Rpl37a , Rps15 , Rps23 , Taf9 , Utp15 , Wdr75 neuronal ceroid lipofuscinosis Rpl4 , Rplp2 , Rps21-ps1 neutropenia Rps14 Niemann-Pick disease type C1 Riok3 nonsyndromic aplasia cutis congenita Bms1 Noonan syndrome 1 Rpl6 Noonan syndrome with multiple lentigines 1 Rpl6 North American Indian Childhood Cirrhosis Utp4 obesity Prkcb Okur-Chung Neurodevelopmental Syndrome Csnk2a1 optic atrophy Rpl24 osteoarthritis Ran otitis media Rpl38 ovarian cyst Rpl5 Ovarian Neoplasms Pop4 Oxygen-Induced Retinopathy Csnk2a1 , Csnk2a2 , Csnk2b pancreatic cancer Xpo1 , Xpo5 pancreatic ductal carcinoma Heatr1 pancytopenia Rpl27a pantothenate kinase-associated neurodegeneration Nop56 paraplegia Dkc1 , Rpl10 parathyroid carcinoma Heatr1 , Nvl , Rps27 Parkinson's disease Rpl14 , Rpl23a , Rpl6 , Rps8 periventricular nodular heterotopia Dkc1 , Rpl10 Perlman syndrome Dis3 peroxisome biogenesis disorder 11A Xpo1 peroxisome biogenesis disorder 2B Emg1 pleomorphic xanthoastrocytoma Ddx56 , Pals2 , Pop7 , Rbm28 , Sbds pleuropulmonary blastoma Ddx24 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME Csnk2b polycystic ovary syndrome Rexo1 , Rpl37a Polyglucosan Body Myopathy 1 with or without Immunodeficiency Csnk2a1 Primary Autosomal Recessive Microcephaly 28 Rrp7a primary biliary cholangitis Utp4 primary ciliary dyskinesia Pwp2 , Rps29 primary ciliary dyskinesia 33 Rpl13 primary coenzyme Q10 deficiency 7 Nup214 , Rpl7a primary immunodeficiency disease Dkc1 primary ovarian insufficiency Xpo5 primary pulmonary hypertension Nop58 Primary Pulmonary Hypertension, 1 Nop58 progressive myoclonus epilepsy Pwp2 progressive myoclonus epilepsy 9 Rexo1 prostate adenocarcinoma Xpo1 prostate cancer Nmd3 Prostatic Neoplasms Rpl10 , Rpl11 , Rpl12 , Rps19 , Xpo1 proteasome-associated autoinflammatory syndrome 1 Csnk2b , Rpl10a , Rps10 , Rps18 psychotic disorder Rcl1 Pulmonary Arterial Hypertension Nop58 pulmonary fibrosis Dkc1 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 Nop10 Rafiq syndrome Rpl7a RASopathy Rpl6 , Rps25 renal cell carcinoma Rpl14 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED Rpl36a schizophrenia Afg2a , Imp3 , Rpp25 , Rps19 , Rps25 , Xpo1 sciatic neuropathy Ran , Rpsa Segawa Syndrome, Autosomal Recessive Rplp2 sensorineural hearing loss Prkcb Sepsis Rpl4 , Rpl9 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Rpl18a Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Rpl18a severe congenital encephalopathy due to MECP2 mutation Rpl10 severe congenital neutropenia 2 Rpl5 severe congenital neutropenia 3 Rps27 severe congenital neutropenia 5 Rps27 short-rib thoracic dysplasia 9 with or without polydactyly Rps2 , Tbl3 Shwachman-Diamond syndrome Sbds Shwachman-Diamond Syndrome 2 Efl1 silicosis Prkcb Skin Neoplasms Csnk2a1 , Csnk2a2 , Csnk2b Sotos syndrome Nhp2 Spinal Cord Injuries Rpsa spinocerebellar ataxia type 36 Nop56 Spinocerebellar Ataxias Nop56 Splenic Hypoplasia Rpsa Splenomegaly Dkc1 , Rpl10 , Sbds spondyloepimetaphyseal dysplasia Rpl13 Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type Eri1 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type Rpl13 squamous cell carcinoma Csnk2a1 , Csnk2a2 , Csnk2b , Rack1 Staphylococcal Infections Xrn1 status epilepticus Prkcb , Xrn2 stomach cancer Xpo1 stomach carcinoma Xpo1 Stomach Neoplasms Bop1 , Exosc5 , Nop56 , Prkcb , Rpl13 , Rpl15 , Rpl18 , Rps15 , Rps19 , Rps21-ps1 , Rps26 , Rps6 syndactyly Csnk2b syndromic X-linked intellectual disability 14 Rpl39 syndromic X-linked intellectual disability Cabezas type Rpl39 syndromic X-linked intellectual disability Lubs type Gnl3l , Nxf3 , Nxf7 , Nxt2 , Rpl10 , Rpl36a , Rpl39 , Rps4x , Utp14a syndromic X-linked intellectual disability Raymond type Utp14a syndromic X-linked mental retardation 35 Rpl10 systemic lupus erythematosus Rpl12 , Rpl14 T-cell acute lymphoblastic leukemia Rpl10 , Rpl11 , Rpl5 Temporomandibular Joint Osteoarthritis Rps6 Temtamy syndrome Emg1 thyroid gland papillary carcinoma Wdr3 transient cerebral ischemia Rack1 , Rps6 transitional cell carcinoma Xpo5 Treacher Collins syndrome Tcof1 Treacher Collins syndrome 1 Tcof1 trichorhinophalangeal syndrome type I Utp23 tuberous sclerosis 1 Rpl7a tuberous sclerosis 2 Rps2 , Tbl3 type 1 diabetes mellitus Ran type 2 diabetes mellitus Fbl , Prkcb , Rps16 uterine cancer Xpo1 vascular dementia Rps6 Weight Gain Rpl28 , Rps28 , Rps8 X-linked dyskeratosis congenita Dkc1 Y-linked spermatogenic failure 2 Rps4y2 Zellweger syndrome Bysl , Xpo5