SPLICEOSOME PATHWAY (PW:0001073)
Description
The production of mature mRNA involves the processing of 5'- and 3'-ends, and the removal of introns via specialized pathways. In higher eukaryotes, ~95% of protein-coding genes contain introns that are generally long (human introns can be several to hundreds of kilobases), and separate shorter exons. Their removal via splicing involves the formation of the spliceosome - one of the most complex macromolecular machines of the cell. It proceeds via a dynamic step-wise assembly of discrete complexes, culminating in the two trans-esterification reactions that result in ligation of exons and excision of the lariat intron, followed by spliceosome disassembly and re-assembly for another round of splicing. Introns can be the precursors of other non-coding molecules such as microRNAs, which can also be transcribed from independent genes. Some exons are constitutively spliced; however, many exons, particularly in higher eukaryotes, are subject to alternative splicing (AS), resulting in multiple and different mature mRNAs generated from the same pre-mRNA, vastly expanding the proteome. The core splicing machinery is conserved from yeast to man; additional factors in the human system likely represent the greater demand for regulatory mechanisms and added functionality associated with alternative splicing. Small nuclear ribonucleoprotein particles (snRNPs) with uridine-rich (U-rich) U1, U2, U4, U5 and U6 snRNAs, in the case of the major spliceosome, and some ~100 to possibly 300 proteins, in yeast and human, respectively, are the key components. An additional minor spliceosome is present in some metazoans, including humans and in plants. A consensus major spliceosome pathway, alternative splicing and integration of splicing, transcription and chromatin machineries are presented.
Spliceosome pathway
A generic pre-mRNA sequence shows two exons separated by an intron with the 5' splice site (5'SS) and 3' splice site (3'SS) with GU and AG exon/intron border sequences, respectively, a branch point sequence (BPS) in between and, in metazoans, a polypyrimidine tract (PPT) between the BPS and 3'SS. In the two reactions catalyzed by the spliceosome first, the phosphodiester bond at the 5'SS is attacked by the 2'-hydroxyl of an adenosine in the BPS generating a free 5'end exon and an intron lariat-3' exon; then, the 3'-hydroxyl of the cleaved 5' exon attacks the phosphodiester bond at the 3'SS, leading to exon ligation and excision of the lariat intron. The small sequence size and in mammals, poor conservation and great intron size, render the correct identification and positioning of 5'SS and 3'SS a rather formidable challenge. Additional factors include the cis-elements represented by exonic and intronic splicing enhancers (ESE, ISE) and silencers (ESS, ISS). Trans-elements, which bind to enhancers and silencers, include the members of the Ser/Arg-rich (SR) and heterogeneous nuclear ribonucleoprotein (hnRNP) protein families, respectively. The U1, U2, U4 and U5 snRNAs have an Sm site, bound by a group of seven Sm proteins that form a heptametic ring through which the seven nucleotides (nts) of the Sm site are threaded. Shared and unique snRNP and non-snRNP proteins associate with as well as dissociate from the spliceosome at various stages of its assembly. Assembly begins with binding of U1 to the 5'SS. Metazoan U1 snRNP is composed of U1 snRNA, the seven Sm proteins and three U1-specific proteins. Additional factors Sf1 and U2af bind to BPS and PPT, respectively; Sf1 interacts with U2af2 (the 65kDa subunit of U2af) via its RNA recognition motif (RRM) while the 35 kDa subunit (U2uaf1) of the U2af heterodimer interacts with the 3'SS. Together, they represent the early complex, Complex E. U2 assembly leads to formation of complex A (pre-spliceosome); formation of this and subsequent complexes require the action of DexD/H-box RNA-dependent ATPases/helicases. Human U2 contains U2 snRNA, the Sm proteins and several U2-specific proteins, mostly components of Sf3a and b complexes, the latter important for BPS recognition. U4/U6, pre-assembled with U5 as a tri-snRNP, join the spliceosome to form the complex B (pre-catalytic spliceosome), still inactive. Nts within U6 snRNA are components of the active site but are initially in an inactive form through base pairing with U4. During activation U1 is displaced, U4/U6 interactions are disrupted and U4 is displaced, the conserved ACAGAG box of U6 snRNA engages the intron nts at the 5'SS, U6/U2 duplexes form. The substantial compositional and conformational rearrangements yield complex B* (activated spliceosome) and the first catalytic step. The resulting complex C (catalytic spliceosome) undergoes further rearrangements and the second catalytic step takes place followed by postcatalytic rearrangements (post-spliceosome complex) with subsequent release of spliced mRNA, excised lariat and disassembly of snRNPs. During transition to complex C, the core of the exon junction complex (EJC) is deposited; EJC is found in spliceosomes that have catalyzed the first splicing step, remains associated with mRNA after the second step and travels with it to the cytoplasm where it is removed from mRNA after the first round of translation. EJC is deposited upstream of the exon-exon splice junction thus marking the positions of former introns and is critical for distinguishing premature stop/termination codons (PTC) upstream of the last EJC (natural stop codons are downstream of the last EJC). Prpf8 (known as Prp8), a component of U5 which also shows footprints and crosslinking sites on U6, U2 and pre-mRNA, is thought to have an essential role in formation of the catalytic core/splicing reaction. It interacts with Aar2, a U5 assembly factor and with Snrnp200 (Brr2) and Eftud2 (Snu14), which in addition to being components of U5 are also a helicase and a GTPase, respectively (the only GTPase is required for splicing). Other U5 components may be lost upon activation of the spliceosome. The U6 snRNA associates with seven Sm-like (LSM) proteins at its 3' end. Prp24 (human homolog is SART3) is an essential component of U6, along with the core LSM proteins. Of the non-snRNP factors, the Prp19 complex and Prp19-associated proteins are involved in the activation of the spliceosome: they associate with the spliceosome during/after dissociation of U4, stabilize the B* complex and remain associated with C complex during the second catalytic step. Prpf18 and Slu7, along with helicases, promote the second catalytic step. Other proteins present in many stages of the spliceosome include members of SR and hnRNP protein families and other spliceosome-associated proteins (SAP). Many spliceosomal components undergo post-transcriptional modification (PTM), of which phosphorylation is the better documented type.
DExD/H-type ATPases/helicases, other enzymes and factors
The dynamics of RNA and proteins interactions and remodeling during spliceosome assembly require enzyme activity. At least eight DExD/H-type RNA-dependent ATPases/helicases are involved in the various steps of spliceosomal assembly. They act as platforms that assemble and reconfigure the snRNPs and also have RNA-related roles beyond splicing. Ddx39b (known as Uap56) and Ddx46 (Prp5) promote formation of complex A and the latter physically interacts with U2 snRNP. Ddx23 (Prp28) promotes complex B formation and the human protein, unlike the yeast, is found in the tri-snRNP U4/U6.U5. Snrnp200 (Brr2) - an integral component of U5, promotes unwinding of U4/U6, an activity stimulated by Prpf8. Eftud2 - the only GTPase required for splicing and also an U5 component, regulates U4/U6 unwinding. And Snrnp200 and Eftud2 activities promote complex B* formation. Dhx16 (Prp2) is thought to regulate the first catalytic step while Dhx38 (Prp16) and Dhx8 (Prp22) function in the second step (along with Prpf18 and Slu7); the molecular mechanisms of their function remain to be elucidated. Finally, Dhx15 (Prp43) plays a role in spliceosome disassembly; Eftud2 and possibly Snrnp200 also play a role (not shown).
Other enzymes include the peptidyl-prolyl-cis/trans insomerases (PPIases) of which several are associated with the human spliceosome. They are members of the cyclophilin family of the immunophilin superfamily and while their exact function is still to be established, a potential role in the structural transitions spliceosome assembly undergoes can be envisioned, as the isomerization of a peptide bond preceding a proline residue is often rate-limiting in protein folding and activity. As many have no yeast orthologs, a possible role in AS is speculated; others include aiding the assembly/disassembly of complexes or the coupling of transcription and splicing. Of note is PPIH which forms distinct complexes with either the Prpf4 component of U4 snRNP or Prpf18 which promotes the second catalytic step and neither complex obstructs/disrupts the active site of the enzyme.
Other factors include splicing regulators acting at various stages of spliceosome assembly or controlling splice site selection and those that are differentially expressed between various cells and tissue types. Examples include but are not limited to regulators such as Ptbp1 and 2, Mbnl, Srrm, Qki and Tial1.
Alternative splicing
Splice sites, depending on how close or divergent they are from the consensus sequence, are classified as strong or weak, respectively. While strong sites are associated with constitutive splicing, weak sites are subject to alternative splicing (AS) and the extent of their usage depends on both cis- and trans-regulatory elements. The cis-elements - exonic and intronic splicing enhancers (ESE, ISE) and silencers (ESS, ISS) mentioned above, important for correct splice recognition, play an essential role in AS. Alternative exons can be included or skipped (cassette exon) as single, multiple or partial; others are mutually exclusive, certain introns may be retained and alternative 5' and/or 3' splice sites can be used, in a tissue- and time-specific manner. The cis-elements are binding sites for the trans-factors - SR proteins for enhancers, hnRNP for silencers, which in turn recruit snRNP subunits or prevent their association. SR proteins bind both pre-mRNA and proteins with low affinity and specificity. Low binding affinity is a common feature not only of regulatory splicing factors but also of core components and is essential for the dynamic nature of the spliceosome. Both SR and hnRNP proteins are modular in nature, undergo nucleocytoplasmic shuttling and have functions beyond splicing. While promoters, sequences, relative abundance/presence of transcription factors and regulatory proteins, chromatin remodelers and other chromatin-affecting factors impact on transcription and the largely co-occurring splicing, a detailed picture of the molecular mechanisms of AS is still lacking. Two non-mutually exclusive mechanisms are proposed: recruitment coupling and kinetic coupling. In the first, splicing factors are recruited via the transcriptional machinery, particularly the carboxy-terminal domain (CTD) of RNA polymerase II and possibly the Mediator. The involvement of CTD in all aspects of pre-mRNA processing is relatively well documented; yet, the details of its role in AS are not well understood. In the second, the rate at which pol II elongates, the emergence of pre-mRNA, splice sites and regulatory sequences affects AS, with high rates leading to skipping and low rates to inclusion of alternative exons. AS not only augments the actual size of the proteome but also its functional versatility, as the protein domain/region encoded by an exon can have its underlying function 'visible/active' or 'hidden/silent', depending on whether that exon is included or skipped, respectively.
Integration of splicing, transcription and chromatin pathways
Splicing is largely co-transcriptional and whether the recruitment or the kinetic model is the preponderant one (likely, a combination of both), the unfolding of transcriptional events affects splicing and its outcomes. Chromatin dynamics and structure influence transcription, the coupling between transcription and splicing, and AS. Nucleosome positioning is preferential in exons and differential in included (higher) versus excluded exons. Histone marks/modifications are enriched in exons and can prevent/allow for the recruitment of specific factors that favor/disfavor exon inclusion. DNA methylation is also enriched in exonic compared to intronic regions; it may slow transcription elongation and thus favor inclusion. In turn, splicing can affect transcription and chromatin. Reports show that splicing enhances transcription in yeast and mouse models. Interactions between splicing factors/regulators and components of the transcriptional and/or chromatin modification machineries impact on all their outcomes. They can mediate recruitment of factors essential for pol II transcriptional elongation, and impact on the activity of histone modifying enzymes that affect chromatin structure and modulate the events associated with them. While the molecular mechanisms of differential gene expression, the detailed pictures of pol II transcription, chromatin modification/modulation and spliceosomal pathways are still to be unraveled, current evidence increasingly points to a bi-directional mode of interconnectivity. Mutations in the core splicing machinery and aberrant alternative splicing are associated with cancer.
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Pathway Diagram:
Genes in Pathway:
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Aar2
AAR2 splicing factor
ISO
RGD
PMID:23592432
RGD:9686090
NCBI chr 3:145,057,368...145,079,838
Ensembl chr 3:145,057,458...145,080,166
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Acin1
apoptotic chromatin condensation inducer 1
IEA
KEGG
rno:03040
NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
G
Alyref
Aly/REF export factor
IEA
KEGG
rno:03040
NCBI chr10:105,871,424...105,875,076
Ensembl chr10:105,871,306...105,875,069
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Aqr
aquarius intron-binding spliceosomal factor
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044
G
Bcas2
BCAS2, pre-mRNA processing factor
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
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Bud31
BUD31 homolog
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr12:9,462,838...9,470,387
Ensembl chr12:9,462,441...9,470,509
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Ccdc12
coiled-coil domain containing 12
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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Cdc40
cell division cycle 40
IEA
KEGG
rno:03040
NCBI chr20:44,273,080...44,325,605
Ensembl chr20:44,273,089...44,325,358
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Cdc5l
cell division cycle 5-like
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450
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Cherp
calcium homeostasis endoplasmic reticulum protein
IEA
KEGG
rno:03040
NCBI chr16:17,367,455...17,380,507
Ensembl chr16:17,367,455...17,380,507
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Crnkl1
crooked neck pre-mRNA splicing factor 1
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302 Ensembl chr 6:133,337,039...133,354,302
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Ctnnbl1
catenin, beta like 1
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987
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Cwc15
CWC15 spliceosome-associated protein
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
G
Ddx23
DEAD-box helicase 23
IEA ISO
KEGG RGD
PMID:23454554 PMID:19239890
rno:03040, RGD:9686093 , RGD:9686089
NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949
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Ddx39b
DExD-box helicase 39B
ISO
RGD
PMID:23454554
RGD:9686093
NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996
G
Ddx42
DEAD-box helicase 42
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939
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Ddx46
DEAD-box helicase 46
IEA ISO
KEGG RGD
PMID:23454554
rno:03040, RGD:9686093
NCBI chr17:8,942,070...8,988,440
Ensembl chr17:8,944,454...8,988,439
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Ddx5
DEAD-box helicase 5
IEA
KEGG
rno:03040
NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
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Dhx15
DEAH-box helicase 15
IEA
KEGG
rno:03040
NCBI chr14:58,787,147...58,825,083
Ensembl chr14:58,787,127...58,825,088
G
Dhx16
DEAH-box helicase 16
IEA ISO
KEGG RGD
PMID:23454554
rno:03040, RGD:9686093
NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948
G
Dhx38
DEAH-box helicase 38
IEA ISO
KEGG RGD
PMID:23454554
rno:03040, RGD:9686093
NCBI chr19:37,512,893...37,530,135
Ensembl chr19:37,512,891...37,530,140
G
Dhx8
DEAH-box helicase 8
IEA ISO
KEGG RGD
PMID:23454554
rno:03040, RGD:9686093
NCBI chr10:86,667,641...86,704,198
Ensembl chr10:86,667,834...86,705,137
G
Eftud2
elongation factor Tu GTP binding domain containing 2
IEA ISO
KEGG RGD
PMID:23592432 PMID:23454554
rno:03040, RGD:9686090 , RGD:9686093
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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Eif4a3
eukaryotic translation initiation factor 4A3
IEA ISO
KEGG RGD
PMID:15145352
rno:03040, RGD:9686404
NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
G
Hnrnpa0
heterogeneous nuclear ribonucleoprotein A0
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr17:6,507,728...6,510,385
Ensembl chr17:6,507,275...6,509,375
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
G
Hnrnpa3
heterogeneous nuclear ribonucleoprotein A3
IEA
KEGG
rno:03040
NCBI chr 3:60,578,574...60,588,755
Ensembl chr 3:60,578,673...60,588,306
G
Hnrnpab
heterogeneous nuclear ribonucleoprotein A/B
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr10:35,857,040...35,862,935
Ensembl chr10:35,857,041...35,863,344
G
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
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Hnrnpd
heterogeneous nuclear ribonucleoprotein D
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr14:9,615,375...9,638,975
Ensembl chr14:9,615,479...9,633,786
G
Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
G
Hnrnph3
heterogeneous nuclear ribonucleoprotein H3
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr20:25,616,400...25,625,814
Ensembl chr20:25,614,733...25,625,750
G
Hnrnpk
heterogeneous nuclear ribonucleoprotein K
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
G
Hnrnpl
heterogeneous nuclear ribonucleoprotein L
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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Hnrnpm
heterogeneous nuclear ribonucleoprotein M
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762
G
Hnrnpr
heterogeneous nuclear ribonucleoprotein R
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867
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Hnrnpu
heterogeneous nuclear ribonucleoprotein U
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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Hspa1a
heat shock protein family A (Hsp70) member 1A
IEA
KEGG
rno:03040
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
IEA
KEGG
rno:03040
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
G
Hspa1l
heat shock protein family A (Hsp70) member 1 like
IEA
KEGG
rno:03040
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Hspa2
heat shock protein family A (Hsp70) member 2
IEA
KEGG
rno:03040
NCBI chr 6:95,128,504...95,131,281
Ensembl chr 6:95,128,350...95,131,287
G
Hspa8
heat shock protein family A (Hsp70) member 8
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
G
Isy1
ISY1 splicing factor homolog
ISO
RGD
PMID:23742842
RGD:9686094
NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
G
Lsm2
LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr20:3,843,467...3,847,217
Ensembl chr20:3,843,466...3,847,266
G
Lsm3
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269
G
Lsm4
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926
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Lsm5
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
IEA
KEGG
rno:03040
NCBI chr 4:85,951,073...85,954,289
Ensembl chr 6:104,652,477...104,654,165 Ensembl chr 4:104,652,477...104,654,165
G
Lsm6
LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr19:29,098,254...29,112,858
Ensembl chr13:42,114,032...42,116,484 Ensembl chr19:42,114,032...42,116,484
G
Lsm7
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr 7:8,856,698...8,859,113
Ensembl chr 7:8,856,489...8,859,119
G
Lsm8
LSM8 homolog, U6 small nuclear RNA associated
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 4:47,306,259...47,312,125
Ensembl chr 4:47,306,295...47,314,293
G
Magoh
mago homolog, exon junction complex subunit
IEA
KEGG
rno:03040
NCBI chr 5:122,639,268...122,646,650
Ensembl chr 5:122,639,308...122,646,617
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Magohb
mago homolog B, exon junction complex subunit
IEA ISO
KEGG RGD
PMID:15145352
rno:03040, RGD:9686404
NCBI chr 4:165,034,131...165,041,977
Ensembl chr 4:165,034,122...165,041,967
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Mbnl1
muscleblind-like splicing regulator 1
ISO
RGD
PMID:23498935
RGD:9686382
NCBI chr 2:144,639,819...144,814,395
Ensembl chr 2:144,670,285...144,814,368
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Ncbp1
nuclear cap binding protein subunit 1
IEA
KEGG
rno:03040
NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
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Pcbp1
poly(rC) binding protein 1
IEA
KEGG
rno:03040
NCBI chr 4:118,972,698...118,974,705
Ensembl chr 4:118,972,661...118,976,500
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Phf5a
PHD finger protein 5A
IEA
KEGG
rno:03040
NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
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Pigz
phosphatidylinositol glycan anchor biosynthesis, class Z
IEA
KEGG
rno:03040
NCBI chr11:68,831,847...68,851,798
G
Plrg1
pleiotropic regulator 1
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 2:168,408,139...168,424,470
Ensembl chr 2:168,408,124...168,424,522
G
Pnn
pinin, desmosome associated protein
ISO
RGD
PMID:15145352
RGD:9686404
NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
G
Ppie
peptidylprolyl isomerase E
IEA ISO
KEGG RGD
PMID:23742842 PMID:18544344
rno:03040, RGD:9686094 , RGD:9686376
NCBI chr 5:135,406,172...135,419,332
Ensembl chr 5:135,406,176...135,419,235
G
Ppig
peptidylprolyl isomerase G
ISO
RGD
PMID:18544344
RGD:9686376
NCBI chr 3:54,484,023...54,512,929
Ensembl chr 3:54,484,023...54,512,926
G
Ppih
peptidylprolyl isomerase H
IEA ISO
KEGG RGD
PMID:18544344
rno:03040, RGD:9686376
NCBI chr 5:132,906,324...132,924,341
Ensembl chr 5:132,906,328...132,924,267
G
Ppil1
peptidylprolyl isomerase like 1
IEA ISO
KEGG RGD
PMID:23742842 PMID:18544344
rno:03040, RGD:9686094 , RGD:9686376
NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354
G
Ppil2
peptidylprolyl isomerase like 2
ISO
RGD
PMID:18544344
RGD:9686376
NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
G
Ppil3
peptidylprolyl isomerase like 3
ISO
RGD
PMID:18544344
RGD:9686376
NCBI chr 9:59,966,405...59,980,147
Ensembl chr 9:59,964,919...59,979,886
G
Pqbp1
polyglutamine binding protein 1
IEA
KEGG
rno:03040
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Prpf18
pre-mRNA processing factor 18
IEA ISO
KEGG RGD
PMID:24452469
rno:03040, RGD:9686092
NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979
G
Prpf19
pre-mRNA processing factor 19
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
G
Prpf3
pre-mRNA processing factor 3
IEA ISO
KEGG RGD
PMID:19239890
rno:03040, RGD:9686089
NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
G
Prpf31
pre-mRNA processing factor 31
IEA ISO
KEGG RGD
PMID:19239890
rno:03040, RGD:9686089
NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
G
Prpf38a
pre-mRNA processing factor 38A
IEA
KEGG
rno:03040
NCBI chr 5:123,312,461...123,324,160
Ensembl chr 5:123,311,482...123,323,972
G
Prpf38b
pre-mRNA processing factor 38B
IEA
KEGG
rno:03040
NCBI chr 2:196,553,224...196,562,271
Ensembl chr 2:196,553,225...196,562,250
G
Prpf4
pre-mRNA splicing tri-snRNP complex factor 4
IEA ISO
KEGG RGD
PMID:19239890
rno:03040, RGD:9686089
NCBI chr 5:75,859,934...75,873,924
Ensembl chr 5:75,859,924...75,873,919
G
Prpf40a
pre-mRNA processing factor 40 homolog A
IEA
KEGG
rno:03040
NCBI chr 3:37,625,585...37,689,859
Ensembl chr 3:37,627,690...37,690,886
G
Prpf6
pre-mRNA processing factor 6
IEA ISO
KEGG RGD
PMID:19239890
rno:03040, RGD:9686089
NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
G
Prpf8
pre-mRNA processing factor 8
IEA ISO
KEGG RGD
PMID:23592432
rno:03040, RGD:9686090
NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
G
Ptbp1
polypyrimidine tract binding protein 1
ISO
RGD
PMID:23385723
RGD:9686381
NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
G
Ptbp2
polypyrimidine tract binding protein 2
ISO
RGD
PMID:23498935
RGD:9686382
NCBI chr 2:207,812,659...207,874,019
Ensembl chr 2:207,812,920...207,873,506
G
Puf60
poly-U binding splicing factor 60
IEA
KEGG
rno:03040
NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531
G
Qki
QKI, KH domain containing RNA binding
ISO
RGD
PMID:23385723
RGD:9686381
NCBI chr 1:50,387,716...50,501,568
Ensembl chr 1:50,387,698...50,498,831
G
Rbm17
RNA binding motif protein 17
IEA
KEGG
rno:03040
NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014
G
Rbm22
RNA binding motif protein 22
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr18:54,013,374...54,024,182
Ensembl chr18:54,013,351...54,024,569
G
Rbm25
RNA binding motif protein 25
IEA
KEGG
rno:03040
NCBI chr 6:103,271,775...103,319,090
Ensembl chr 6:103,271,801...103,317,854
G
Rbm25l1
RNA binding motif protein 25-like 1
IEA
KEGG
rno:03040
NCBI chr10:10,267,026...10,270,510
Ensembl chr10:10,267,260...10,269,710
G
Rbm8a
RNA binding motif protein 8A
IEA ISO
KEGG RGD
PMID:15145352
rno:03040, RGD:9686404
NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
G
Rbmx
RNA binding motif protein, X-linked
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
G
Rbmxl1
Rbmx like 1
IEA
KEGG
rno:03040
NCBI chr19:29,407,902...29,411,519
Ensembl chr19:29,407,912...29,412,859
G
Rnps1
RNA binding protein with serine rich domain 1
ISO
RGD
PMID:15145352
RGD:9686404
NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
G
Sart1
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
IEA
KEGG
rno:03040
NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
G
Sart3
spliceosome associated factor 3, U4/U6 recycling protein
ISO
RGD
PMID:23592432
RGD:9686090
NCBI chr12:42,859,026...42,887,041
Ensembl chr12:42,859,305...42,887,038
G
Sf1
splicing factor 1
ISO
RGD
PMID:19239890
RGD:9686089
NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
G
Sf3a1
splicing factor 3A subunit 1
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr14:79,031,394...79,052,144
Ensembl chr14:79,031,394...79,052,144
G
Sf3a2
splicing factor 3A subunit 2
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 7:8,909,507...8,916,104
Ensembl chr 7:8,909,507...8,915,530
G
Sf3a3
splicing factor 3a, subunit 3
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 5:136,967,713...136,987,345
Ensembl chr 5:136,967,691...136,987,361
G
Sf3b1
splicing factor 3b, subunit 1
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
G
Sf3b2
splicing factor 3b, subunit 2
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
G
Sf3b3
splicing factor 3b, subunit 3
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
G
Sf3b4
splicing factor 3B subunit 4
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
G
Sf3b5
splicing factor 3b, subunit 5
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 1:7,357,040...7,357,752
Ensembl chr 1:7,350,731...7,357,839
G
Sf3b6
splicing factor 3B, subunit 6
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 6:27,826,044...27,835,086
Ensembl chr 6:27,826,029...27,835,156
G
Slu7
SLU7 homolog, splicing factor
IEA ISO
KEGG RGD
PMID:24452469
rno:03040, RGD:9686092
NCBI chr10:27,908,325...27,923,784
Ensembl chr10:27,908,396...27,923,349
G
Smndc1
survival motor neuron domain containing 1
IEA
KEGG
rno:03040
NCBI chr 1:252,389,675...252,400,749
Ensembl chr 1:252,389,673...252,401,616
G
Snrnp200
small nuclear ribonucleoprotein U5 subunit 200
ISO
RGD
PMID:23592432 PMID:23454554
RGD:9686090 , RGD:9686093
NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
G
Snrnp27
small nuclear ribonucleoprotein U4/U6.U5 subunit 27
IEA
KEGG
rno:03040
NCBI chr 4:119,123,676...119,133,234
Ensembl chr 4:119,121,877...119,133,234
G
Snrnp40
small nuclear ribonucleoprotein U5 subunit 40
IEA
KEGG
rno:03040
NCBI chr 5:142,700,632...142,733,776
Ensembl chr 5:142,700,534...142,733,776
G
Snrnp70
small nuclear ribonucleoprotein U1 subunit 70
IEA ISO
KEGG RGD
PMID:23592432
rno:03040, RGD:9686090
NCBI chr 1:95,856,038...95,876,434
Ensembl chr 1:95,856,036...95,876,392
G
Snrpa
small nuclear ribonucleoprotein polypeptide A
IEA ISO
KEGG RGD
PMID:23592432
rno:03040, RGD:9686090
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
G
Snrpa1
small nuclear ribonucleoprotein polypeptide A'
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 1:119,641,402...119,654,653
Ensembl chr 1:119,638,481...119,654,653
G
Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
G
Snrpb2
small nuclear ribonucleoprotein polypeptide B2
IEA ISO
KEGG RGD
PMID:17537823
rno:03040, RGD:9686091
NCBI chr 3:130,399,239...130,408,821
Ensembl chr 3:130,399,248...130,408,812
G
Snrpc
small nuclear ribonucleoprotein polypeptide C
IEA ISO
KEGG RGD
PMID:23592432
rno:03040, RGD:9686090
NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
G
Snrpd2
small nuclear ribonucleoprotein D2 polypeptide
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr 1:78,798,377...78,801,227
Ensembl chr 1:78,798,377...78,803,351
G
Snrpd3
small nuclear ribonucleoprotein D3 polypeptide
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr20:13,130,112...13,145,947
Ensembl chr20:13,130,119...13,145,978
G
Snrpe
small nuclear ribonucleoprotein polypeptide E
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
G
Snrpf
small nuclear ribonucleoprotein polypeptide F
IEA ISO
KEGG RGD
PMID:19239890 PMID:17537823
rno:03040, RGD:9686089 , RGD:9686091
NCBI chr 7:28,130,427...28,137,129
Ensembl chr 7:28,130,427...28,137,129
G
Snrpg
small nuclear ribonucleoprotein polypeptide G
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 4:118,812,278...118,819,827
Ensembl chr 4:118,812,252...118,819,826
G
Snu13
small nuclear ribonucleoprotein 13
IEA ISO
KEGG RGD
PMID:19239890
rno:03040, RGD:9686089
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
G
Snu13l1
small nuclear ribonucleoprotein 13 like 1
IEA
KEGG
rno:03040
NCBI chr X:150,624,087...150,624,525
Ensembl chr X:150,624,087...150,624,473
G
Snw1
SNW domain containing 1
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 6:107,095,450...107,119,536
Ensembl chr 6:107,095,457...107,119,536
G
Srrm1
serine and arginine repetitive matrix 1
ISO
RGD
PMID:17537823 PMID:15145352
RGD:9686091 , RGD:9686404
NCBI chr 5:147,559,515...147,591,895
Ensembl chr 5:147,559,514...147,591,849
G
Srrm2
serine/arginine repetitive matrix 2
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
G
Srrm4
serine/arginine repetitive matrix 4
ISO
RGD
PMID:23498935
RGD:9686382
NCBI chr12:39,998,975...40,158,897
Ensembl chr12:39,999,488...40,155,725
G
Srsf1
serine and arginine rich splicing factor 1
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
G
Srsf10
serine and arginine rich splicing factor 10
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768
G
Srsf11
serine and arginine rich splicing factor 11
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425
G
Srsf12
serine and arginine rich splicing factor 12
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 5:47,606,526...47,631,509
Ensembl chr 5:47,606,285...47,629,778
G
Srsf2
serine and arginine rich splicing factor 2
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
G
Srsf3
serine and arginine rich splicing factor 3
ISO
RGD
PMID:17537823 PMID:19239890
RGD:9686089 RGD:9686091
NCBI chr20:7,091,928...7,101,860
Ensembl chr20:7,091,910...7,101,078
G
Srsf4
serine and arginine rich splicing factor 4
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229
G
Srsf5
serine and arginine rich splicing factor 5
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 6:100,605,165...100,610,192
Ensembl chr 6:100,605,456...100,610,177
G
Srsf6
serine and arginine rich splicing factor 6
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
G
Srsf7
serine and arginine rich splicing factor 7
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr 6:14,811,775...14,818,968
Ensembl chr 6:14,811,808...14,818,965
G
Srsf9
serine and arginine rich splicing factor 9
ISO
RGD
PMID:19239890 PMID:17537823
RGD:9686089 , RGD:9686091
NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499
G
Syf2
SYF2 pre-mRNA-splicing factor
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr 5:147,156,492...147,164,416
Ensembl chr 5:147,156,480...147,164,414
G
Syncrip
synaptotagmin binding, cytoplasmic RNA interacting protein
ISO
RGD
PMID:17537823
RGD:9686091
NCBI chr 8:89,402,487...89,435,517
Ensembl chr 8:89,402,866...89,435,515
G
Tcerg1
transcription elongation regulator 1
IEA
KEGG
rno:03040
NCBI chr18:34,505,708...34,566,470
Ensembl chr18:34,505,751...34,566,470
G
Thoc1
THO complex subunit 1
IEA
KEGG
rno:03040
NCBI chr18:983,824...1,019,123
Ensembl chr18:983,824...1,019,114
G
Thoc2
THO complex subunit 2
IEA
KEGG
rno:03040
NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513
G
Thoc3
THO complex subunit 3
IEA
KEGG
rno:03040
NCBI chr17:10,143,184...10,152,375
Ensembl chr17:10,143,139...10,152,370
G
Tial1
Tia1 cytotoxic granule-associated RNA binding protein-like 1
ISO
RGD
PMID:23385723
RGD:9686381
NCBI chr 1:183,008,358...183,045,092
Ensembl chr 1:183,009,253...183,031,637
G
Tra2a
transformer 2 alpha
IEA
KEGG
rno:03040
NCBI chr 4:78,220,838...78,239,737
Ensembl chr 4:78,220,883...78,239,712
G
Tra2b
transformer 2 beta
IEA
KEGG
rno:03040
NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249
G
Txnl4a
thioredoxin-like 4A
ISO
RGD
PMID:19239890
RGD:9686089
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
G
U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
RGD
PMID:19239890
RGD:9686089
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
G
U2af2
U2 small nuclear RNA auxiliary factor 2
IEA ISO
KEGG RGD
PMID:19239890
rno:03040, RGD:9686089
NCBI chr 1:68,760,911...68,779,730
Ensembl chr 1:68,760,924...68,778,492
G
U2surp
U2 snRNP-associated SURP domain containing
IEA
KEGG
rno:03040
NCBI chr 8:96,018,932...96,075,795
Ensembl chr 8:96,022,957...96,075,691
G
Usp39
ubiquitin specific peptidase 39
IEA
KEGG
rno:03040
NCBI chr 4:104,373,948...104,406,359
Ensembl chr 4:104,373,955...104,406,359
G
Wbp11
WW domain binding protein 11
IEA
KEGG
rno:03040
NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443
G
Xab2
XPA binding protein 2
IEA ISO
KEGG RGD
PMID:23742842
rno:03040, RGD:9686094
NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692
G
Zmat2
zinc finger, matrin type 2
IEA
KEGG
rno:03040
NCBI chr18:28,409,606...28,414,241
Ensembl chr18:28,398,795...28,414,747
Pathway Gene Annotations
Disease Annotations Associated with Genes in the spliceosome pathway
Aar2 Developmental Disabilities , genetic disease Acin1 Brain-Lung-Thyroid Syndrome , genetic disease , lysinuric protein intolerance , Specific Granule Deficiency Alyref genetic disease , human immunodeficiency virus infectious disease Aqr Bloom syndrome , colorectal cancer , genetic disease Bcas2 breast cancer , diffuse large B-cell lymphoma , genetic disease , hereditary spastic paraplegia 47 , RASopathy Bud31 genetic disease , pleomorphic xanthoastrocytoma , schistosomiasis Ccdc12 genetic disease , gray platelet syndrome , Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Cdc40 genetic disease , pontocerebellar hypoplasia , pontocerebellar hypoplasia type 15 Cdc5l CAKUT , esophagus adenocarcinoma , genetic disease , Lung Neoplasms , osteosarcoma Cherp genetic disease Crnkl1 basal cell carcinoma , genetic disease , melanoma , skin melanoma Ctnnbl1 Aicardi-Goutieres Syndrome 5 , colorectal cancer , focal epilepsy , genetic disease , Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias , morbid obesity Cwc15 ataxia telangiectasia , genetic disease , intellectual disability Ddx23 bilateral perisylvian polymicrogyria , Failure to Thrive , Fetal Growth Retardation , genetic disease , intellectual disability , Neurodevelopmental Disorders Ddx39b genetic disease , megacolon , Neurodevelopmental Disorders , proteasome-associated autoinflammatory syndrome 1 , type 1 diabetes mellitus Ddx42 Cachexia , genetic disease , myelodysplastic syndrome Ddx46 autistic disorder , familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes , Neurodevelopmental Disorders Ddx5 Developmental Disabilities , endometriosis , genetic disease , hyperkalemic periodic paralysis , skin squamous cell carcinoma Dhx15 acute myeloid leukemia , epilepsy , genetic disease Dhx16 Agenesis of Corpus Callosum , epilepsy , genetic disease , intellectual disability , megacolon , Neurodevelopmental Disorders , Neuromuscular Oculoauditory Syndrome Dhx38 autosomal dominant dyskeratosis congenita 6 , fundus dystrophy , genetic disease , retinitis pigmentosa , retinitis pigmentosa 84 Dhx8 CAKUT , genetic disease , hereditary breast ovarian cancer syndrome Eftud2 colon cancer , Developmental Disabilities , esophageal atresia , genetic disease , Hearing Loss , hepatitis B , hepatocellular carcinoma , Hydatidiform Mole , Mandibulofacial Dysostosis , mandibulofacial dysostosis, Guion-Almeida type , microcephaly , Neurodevelopmental Disorders , Spontaneous Abortions , Tracheoesophageal Fistula Eif4a3 genetic disease , glycogen storage disease II , intellectual disability , mucopolysaccharidosis type IIIA , pancreatic cancer , pityriasis rubra pilaris , Richieri Costa Pereira Syndrome Hnrnpa0 autosomal dominant intellectual developmental disorder 31 , familial adenomatous polyposis 1 , gastric adenocarcinoma , genetic disease , Hereditary Neoplastic Syndromes , Neurodevelopmental Disorders , STING-associated vasculopathy with onset in infancy Hnrnpa1 Alzheimer's disease , amyotrophic lateral sclerosis type 20 , Animal Disease Models , Animal Mammary Neoplasms , carcinoma , Colorectal Neoplasms , distal myopathy 3 , Experimental Mammary Neoplasms , genetic disease , hepatocellular carcinoma , inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 , inclusion body myopathy with Paget disease of bone and frontotemporal dementia , lung adenocarcinoma , lung non-small cell carcinoma , Neurodevelopmental Disorders , primary progressive multiple sclerosis , relapsing-remitting multiple sclerosis , secondary progressive multiple sclerosis , tropical spastic paraparesis Hnrnpa2b1 adult T-cell leukemia/lymphoma , Alzheimer's disease , Experimental Diabetes Mellitus , frontotemporal dementia , genetic disease , hepatocellular carcinoma , inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 , inclusion body myopathy with Paget disease of bone and frontotemporal dementia , lung non-small cell carcinoma , Oculopharyngeal Muscular Dystrophy 2 , pancreatic carcinoma , pleomorphic xanthoastrocytoma , rheumatoid arthritis , transient cerebral ischemia Hnrnpa3 genetic disease , schizophrenia , silicosis , split hand-foot malformation 5 Hnrnpab Ehlers-Danlos syndrome dermatosparaxis type , Ehlers-Danlos syndrome spondylodysplastic type 2 , Experimental Mammary Neoplasms , genetic disease , hepatocellular carcinoma , Sotos syndrome , transient cerebral ischemia Hnrnpc Acute Lung Injury , atherosclerosis , Autosomal Dominant Intellectual Developmental Disorder 74 , Brain-Lung-Thyroid Syndrome , cervical cancer , cone-rod dystrophy 13 , genetic disease , purine nucleoside phosphorylase deficiency Hnrnpd chromosome 4q21 deletion syndrome , genetic disease , hepatocellular carcinoma , uremia Hnrnph1 Colorectal Neoplasms , Ehlers-Danlos syndrome dermatosparaxis type , Experimental Autoimmune Orchitis , frontotemporal dementia and/or amyotrophic lateral sclerosis 1 , genetic disease , hepatocellular carcinoma , Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects , Prostatic Neoplasms , Sjogren's syndrome , Sotos syndrome , syndromic X-linked intellectual developmental disorder Bain type Hnrnph3 genetic disease Hnrnpk amyotrophic lateral sclerosis , Au-Kline Syndrome , brain disease , Breast Neoplasms , Cardiac Allograft Vasculopathy , colorectal cancer , Experimental Diabetes Mellitus , genetic disease , intellectual disability , Muscle Hypotonia , Perinatal Asphyxia , Pituitary Neoplasms , prostate cancer , Prostatic Neoplasms , Raynaud disease Hnrnpl brain cancer , Breast Neoplasms , Disease Progression , genetic disease , hepatocellular carcinoma , lung cancer , maturity-onset diabetes of the young type 1 , Sertoli cell-only syndrome , Stomach Neoplasms , systemic scleroderma , type 2 diabetes mellitus Hnrnpm autistic disorder , colorectal carcinoma , genetic disease , leiomyoma , long QT syndrome , mucolipidosis type IV Hnrnpr 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency , Breast Neoplasms , genetic disease , NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES Hnrnpu autism spectrum disorder , colorectal cancer , developmental and epileptic encephalopathy 1 , developmental and epileptic encephalopathy 54 , epilepsy , gastrointestinal stromal tumor , Generalized Epilepsy , genetic disease , intellectual disability , Myoclonic Epilepsies , Neurodevelopmental Disorders , parathyroid carcinoma , Senior-Loken Syndrome 7 Hspa1a Acute Coronary Syndrome , acute kidney failure , Alzheimer's disease , atherosclerosis , Brain Hypoxia-Ischemia , Brain Injuries , cardiovascular system disease , chronic obstructive pulmonary disease , Coronary Disease , Coronary Occlusion , cystic fibrosis , Diabetic Nephropathies , drug allergy , genetic disease , graft-versus-host disease , Hearing Loss, Noise-Induced , Heat Stress Disorders , Hemorrhagic Shock , Kawasaki disease , liver disease , major depressive disorder , melanoma , Meniere's disease , Myocardial Ischemia , Myocardial Reperfusion Injury , Neoplasm Metastasis , Osteoarthritis, Experimental , pancreatic ductal carcinoma , paranoid schizophrenia , Parkinson's disease , Parkinsonism , Prostatic Neoplasms , proteasome-associated autoinflammatory syndrome 1 , pulmonary fibrosis , Reperfusion Injury , schizophrenia , status epilepticus , Sudden Hearing Loss , systemic lupus erythematosus , systolic heart failure , urinary bladder cancer , vascular dementia , visual epilepsy , vitiligo Hspa1b Alzheimer's disease , Arsenic Poisoning , atherosclerosis , brain ischemia , Breast Neoplasms , CAKUT , chronic obstructive pulmonary disease , Diabetic Foot , Diabetic Nephropathies , facioscapulohumeral muscular dystrophy , familial hyperlipidemia , genetic disease , graft-versus-host disease , Hearing Loss, Noise-Induced , Hypoxia , obesity , pancreatic ductal carcinoma , proteasome-associated autoinflammatory syndrome 1 , pulmonary fibrosis , Reperfusion Injury , schizophrenia , senile cataract , skin disease , Sudden Hearing Loss , toxic shock syndrome , type 2 diabetes mellitus , urinary tract infection Hspa1l chronic obstructive pulmonary disease , Crohn's disease , drug allergy , Drug Hypersensitivity Syndrome , genetic disease , Hearing Loss, Noise-Induced , inflammatory bowel disease 1 , Kawasaki disease , major depressive disorder , proteasome-associated autoinflammatory syndrome 1 , schizophrenia , Sudden Hearing Loss , systemic lupus erythematosus , uveitis Hspa2 Colonic Neoplasms , genetic disease , Myocardial Ischemia Hspa8 Acute Coronary Syndrome , acute kidney failure , Acute Liver Failure , adenocarcinoma , brain ischemia , cervical cancer , Chemical and Drug Induced Liver Injury , Chromosome 11, Partial Trisomy 11q , colorectal cancer , Diabetic Nephropathies , disease of metabolism , Dwarfism , genetic disease , graft-versus-host disease , Huntington's disease , hypertension , inflammatory bowel disease , Kidney Reperfusion Injury , macular degeneration , Mouth Neoplasms , multiple sclerosis , Ocular Paraneoplastic Syndromes , pancreatic ductal adenocarcinoma , Parkinson's disease , relapsing-remitting multiple sclerosis , renal hypertension , Reperfusion Injury , schizophrenia , spinocerebellar ataxia type 17 , squamous cell carcinoma , Stomach Neoplasms , transient cerebral ischemia Isy1 alkaptonuria , genetic disease , immunodeficiency 21 , Primary Lymphedema with Myelodysplasia Lsm2 proteasome-associated autoinflammatory syndrome 1 Lsm3 3p deletion syndrome , genetic disease Lsm4 atherosclerosis , genetic disease , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Lsm5 genetic disease , pleomorphic xanthoastrocytoma , polycystic ovary syndrome Lsm6 genetic disease , methylmalonic acidemia cblA type Lsm7 genetic disease , leukodystrophy , Neurodevelopmental Disorders , progressive myoclonus epilepsy 9 Lsm8 pleomorphic xanthoastrocytoma Magoh genetic disease Magohb genetic disease , ovarian cyst Mbnl1 Familial Prostate Cancer , genetic disease , Myotonia , myotonic disease , schizophrenia Ncbp1 congenital disorder of glycosylation Ii , congenital disorder of glycosylation type II , congenital myasthenic syndrome 14 , Generalized Epilepsy , genetic disease , intellectual disability , nephronophthisis , thoracic aortic aneurysm Pcbp1 Breast Neoplasms , COVID-19 , genetic disease , Neurodevelopmental Disorders Phf5a adenylosuccinase lyase deficiency , common variable immunodeficiency 4 Pigz autistic disorder , chromosome 3q29 microdeletion syndrome , genetic disease , schizophrenia Plrg1 genetic disease Pnn Brain-Lung-Thyroid Syndrome , genetic disease Ppie Charcot-Marie-Tooth disease dominant intermediate C , genetic disease Ppig genetic disease Ppih Charcot-Marie-Tooth disease dominant intermediate C , genetic disease Ppil1 genetic disease , microcephaly , Neurodevelopmental Disorders , pontocerebellar hypoplasia , pontocerebellar hypoplasia type 14 , proteasome-associated autoinflammatory syndrome 1 Ppil2 chromosome 22q11.2 deletion syndrome, distal , DiGeorge syndrome , genetic disease Ppil3 genetic disease , Neurodevelopmental Disorders , Primary Pulmonary Hypertension, 1 , Pulmonary Arterial Hypertension Pqbp1 atrial heart septal defect , autism spectrum disorder , autistic disorder , congenital disorder of glycosylation type IIm , genetic disease , Growth Disorders , hereditary spastic paraplegia , immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome , intellectual disability , microcephaly , neurodegeneration with brain iron accumulation 5 , Renpenning syndrome , syndromic X-linked intellectual disability Lubs type , X-linked epilepsy with variable learning disabilities and behavior disorders , X-Linked Intellectual Developmental Disorders , X-linked severe congenital neutropenia Prpf18 genetic disease , hypoparathyroidism-deafness-renal disease syndrome Prpf19 Disease Progression , genetic disease , Hydrops Fetalis , intellectual disability , leukocyte adhesion deficiency 3 , Stomach Neoplasms Prpf3 fundus dystrophy , gastrointestinal stromal tumor , genetic disease , immunodeficiency 42 , MHC class II deficiency , parathyroid carcinoma , retinitis pigmentosa , retinitis pigmentosa 18 , severe congenital neutropenia 3 , severe congenital neutropenia 5 Prpf31 fundus dystrophy , genetic disease , Leber congenital amaurosis , retinitis pigmentosa , retinitis pigmentosa 11 Prpf38a genetic disease Prpf38b autistic disorder , genetic disease , hereditary spastic paraplegia 63 , High Myopia Prpf4 fundus dystrophy , genetic disease , retinitis pigmentosa 70 , substance-related disorder Prpf40a genetic disease Prpf6 developmental and epileptic encephalopathy , developmental and epileptic encephalopathy 33 , early infantile epileptic encephalopathy , fundus dystrophy , genetic disease , neuronal ceroid lipofuscinosis , retinitis pigmentosa , retinitis pigmentosa 60 Prpf8 Developmental Disease , fundus dystrophy , genetic disease , human immunodeficiency virus infectious disease , Neurodevelopmental Disorders , Peters anomaly , retinitis pigmentosa , retinitis pigmentosa 13 , retinitis pigmentosa 14 , Stroke Ptbp1 Animal Mammary Neoplasms , carcinoma , cerebral creatine deficiency syndrome , cyclic hematopoiesis , Experimental Mammary Neoplasms , genetic disease , osteosarcoma Ptbp2 genetic disease Puf60 Brown-Vialetto-Van Laere syndrome 2 , CHARGE syndrome , epidermolysis bullosa simplex with muscular dystrophy , Experimental Neoplasms , genetic disease , Hittner Hirsch Kreh Syndrome , holoprosencephaly , Mesothelioma , Necrosis , NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES , Verheij Syndrome Qki demyelinating disease , Experimental Autoimmune Encephalomyelitis , genetic disease , high grade glioma Rbm17 genetic disease , hypoparathyroidism-deafness-renal disease syndrome , schizophrenia , Spinocerebellar Ataxias Rbm22 familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes Rbm25 genetic disease , intellectual disability Rbm8a Developmental Disabilities , gastrointestinal stromal tumor , genetic disease , parathyroid carcinoma , schizophrenia , thrombocytopenia-absent radius syndrome Rbmx autistic disorder , Christianson syndrome , Chromosome Xq26.3 Duplication Syndrome , Congenital Heart Defects, Multiple Types, 1, X-Linked , genetic disease , Spinal Cord Injuries , syndromic X-linked intellectual disability Lubs type , syndromic X-linked intellectual disability Shashi type , X-linked hyper IgM syndrome , X-linked mental retardation Gustavson type Rbmxl1 genetic disease Rnps1 developmental and epileptic encephalopathy 1 , endometrial carcinoma , epilepsy , genetic disease , idiopathic generalized epilepsy , short-rib thoracic dysplasia 9 with or without polydactyly Sart1 Aicardi-Goutieres Syndrome 3 , autosomal recessive cutis laxa type IB , Bardet-Biedl syndrome , genetic disease , glycogen storage disease V , intellectual disability , Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Sart3 genetic disease , Porokeratosis 3, Multiple Types Sf1 Bardet-Biedl syndrome , genetic disease , glycogen storage disease V , high grade glioma , intellectual disability , ischemia , leukocyte adhesion deficiency 3 , melanoma , Neurodevelopmental Disorders Sf3a1 diffuse large B-cell lymphoma , genetic disease Sf3a2 genetic disease , Neurodevelopmental Disorders , progressive myoclonus epilepsy 9 Sf3a3 Charcot-Marie-Tooth disease dominant intermediate C , genetic disease , human immunodeficiency virus infectious disease Sf3b1 acute myeloid leukemia , adenoid cystic carcinoma , B-Cell Chronic Lymphocytic Leukemia , Breast Neoplasms , chronic lymphocytic leukemia , chronic myelogenous leukemia, BCR-ABL1 positive , chronic myeloid leukemia , genetic disease , hepatocellular carcinoma , malignant mesothelioma , myelodysplastic syndrome , Neurodevelopmental Disorders , Prostatic Neoplasms , renal cell carcinoma , Renal Cell Carcinoma 1 , skin melanoma , transitional cell carcinoma , uveal melanoma Sf3b2 acute myeloid leukemia , Aicardi-Goutieres Syndrome 3 , autosomal recessive cutis laxa type IB , B-Cell Chronic Lymphocytic Leukemia , Bardet-Biedl syndrome , Breast Neoplasms , chronic lymphocytic leukemia , genetic disease , glycogen storage disease V , Goldenhar syndrome , hepatocellular carcinoma , intellectual disability , medulloblastoma , myelodysplastic syndrome , pancreatic adenocarcinoma , Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations , renal cell carcinoma , Renal Cell Carcinoma 1 , skin melanoma Sf3b3 autosomal dominant dyskeratosis congenita 6 , Charcot-Marie-Tooth disease type 2 , genetic disease , prostate cancer Sf3b4 cervical cancer , gastrointestinal stromal tumor , genetic disease , Hearing Loss , hepatocellular carcinoma , immunodeficiency 42 , lung metastasis , MHC class II deficiency , Micrognathism , Nager acrofacial dysostosis , pancreatic cancer , parathyroid carcinoma , severe congenital neutropenia 3 , severe congenital neutropenia 5 Sf3b5 familial hemophagocytic lymphohistiocytosis 4 Sf3b6 genetic disease Slu7 genetic disease , Weight Gain Smndc1 Cornelia de Lange syndrome 3 , genetic disease Snrnp200 cone-rod dystrophy , fundus dystrophy , genetic disease , intellectual disability , retinitis pigmentosa , retinitis pigmentosa 33 , schizophrenia , Stargardt disease Snrnp27 atrial fibrillation , genetic disease Snrnp40 genetic disease Snrnp70 Alzheimer's disease , developmental and epileptic encephalopathy 12 , Developmental Disabilities , disease of mental health , genetic disease , progressive familial heart block type IB , systemic lupus erythematosus Snrpa Alzheimer's disease , Carpenter Syndrome 2 , congenital hypoplastic anemia , connective tissue disease , craniosynostosis , Diamond-Blackfan anemia , genetic disease , maple syrup urine disease Snrpa1 connective tissue disease , genetic disease Snrpb cerebrocostomandibular syndrome , Disease Progression , genetic disease , Huntington's disease-like 1 , intellectual disability , lung adenocarcinoma , mixed connective tissue disease , pantothenate kinase-associated neurodegeneration , Stomach Neoplasms , Weissenbacher-Zweymuller syndrome Snrpb2 connective tissue disease , disease of cellular proliferation , genetic disease Snrpc connective tissue disease , genetic disease , mixed connective tissue disease , proteasome-associated autoinflammatory syndrome 1 , systemic lupus erythematosus Snrpd1 connective tissue disease , genetic disease , intellectual disability , nasopharynx carcinoma , nephritis , Niemann-Pick disease type C1 , proteinuria , systemic lupus erythematosus Snrpd2 genetic disease , systemic lupus erythematosus Snrpd3 Animal Mammary Neoplasms , carcinoma , epilepsy , Experimental Mammary Neoplasms , genetic disease , human immunodeficiency virus infectious disease , schizophrenia , Soft Tissue Neoplasms , systemic lupus erythematosus Snrpe acute lymphoblastic leukemia , familial adult myoclonic epilepsy 5 , gastrointestinal stromal tumor , genetic disease , hepatocellular carcinoma , hypogonadism , Hypokalemic Periodic Paralysis, Type 1 , hypotrichosis , hypotrichosis 1 , hypotrichosis 11 , lung adenocarcinoma , lupus nephritis , nasopharynx carcinoma , neuroblastoma , parathyroid carcinoma , prostate cancer Snrpf Colorectal Neoplasms , nasopharynx carcinoma Snrpg Animal Disease Models , genetic disease , lung adenocarcinoma , nasopharynx carcinoma Snu13 adenylosuccinase lyase deficiency , common variable immunodeficiency 4 Snw1 Brain Injuries , breast cancer , breast carcinoma , genetic disease , hepatocellular carcinoma , Optic Nerve Injuries , pancreatic cancer , sciatic neuropathy Srrm1 genetic disease , gestational diabetes Srrm2 Autosomal Dominant Intellectual Developmental Disorder 72 , epilepsy , genetic disease , idiopathic generalized epilepsy , Neurodevelopmental Disorders , Parkinson's disease , short-rib thoracic dysplasia 9 with or without polydactyly Srrm4 genetic disease , Hearing Disorders , vestibular disease Srsf1 autism spectrum disorder , Cardiomegaly , cervix uteri carcinoma in situ , chronic myeloid leukemia , clear cell renal cell carcinoma , colon cancer , genetic disease , hepatocellular carcinoma , human immunodeficiency virus infectious disease , intellectual disability , Joubert syndrome 1 , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung squamous cell carcinoma , myeloid leukemia , myocardial infarction , myositis , Neoplasm Metastasis , neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities , Ovarian Neoplasms , Pituitary Neoplasms , renovascular hypertension , schizophrenia , stomach cancer Srsf10 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency , Endometrial Neoplasms , genetic disease , macular degeneration , Ovarian Neoplasms , polycystic ovary syndrome Srsf11 autism spectrum disorder , genetic disease , intellectual disability , myelodysplastic syndrome Srsf12 genetic disease Srsf2 acute myeloid leukemia , Animal Mammary Neoplasms , atypical chronic myeloid leukemia , carcinoma , clear cell renal cell carcinoma , congestive heart failure , Experimental Mammary Neoplasms , genetic disease , Head and Neck Neoplasms , hepatocellular carcinoma , lung adenocarcinoma , lung non-small cell carcinoma , lung squamous cell carcinoma , myelodysplastic syndrome , myeloid leukemia associated with Down Syndrome , Neoplasm Metastasis , progressive supranuclear palsy , pulmonary neuroendocrine tumor Srsf3 bipolar disorder , genetic disease , ovary epithelial cancer , proteasome-associated autoinflammatory syndrome 1 , Wallerian Degeneration Srsf4 acute myeloid leukemia , clear cell renal cell carcinoma , colon adenocarcinoma , Down syndrome , genetic disease Srsf5 breast cancer , clear cell renal cell carcinoma , colon adenocarcinoma , genetic disease , liver disease , Neoplasm Metastasis , toxic encephalopathy Srsf6 clear cell renal cell carcinoma , colon adenocarcinoma , Epidermal Hyperplasia , focal epilepsy , genetic disease , Huntington's disease , lung cancer , Neoplasm Metastasis , proliferative diabetic retinopathy , skin cancer , spermatogenic failure 3 Srsf7 clear cell renal cell carcinoma , genetic disease , Glomerular Hyperfiltration , Lynch syndrome , RASopathy Srsf9 Experimental Autoimmune Encephalomyelitis , genetic disease , human immunodeficiency virus infectious disease , urinary bladder cancer Syf2 encephalitis , genetic disease Syncrip autism spectrum disorder , genetic disease , intellectual disability , leukemia , Neurodevelopmental Disorders Tcerg1 colorectal cancer , familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes , Neurodevelopmental Disorders Thoc1 autistic disorder , Autosomal Dominant Nonsyndromic Deafness 86 , genetic disease , Neurodevelopmental Disorders Thoc2 autistic disorder , genetic disease , intellectual disability , Neurodevelopmental Disorders , syndromic X-linked intellectual disability Lubs type , X Chromosome, Trisomy Xq25 , X-linked intellectual disability-short stature-overweight syndrome , X-linked lymphoproliferative syndrome 2 Thoc3 Ehlers-Danlos syndrome dermatosparaxis type , genetic disease , Sotos syndrome Tial1 Disease Progression , Experimental Liver Cirrhosis , genetic disease , malignant astrocytoma , transient cerebral ischemia Tra2a Arsenic Poisoning , genetic disease , pleomorphic xanthoastrocytoma , skin disease Tra2b COVID-19 , genetic disease , macular degeneration , progressive supranuclear palsy Txnl4a Burn-McKeown syndrome , chromosome 18q deletion syndrome , genetic disease , intestinal volvulus , Neurodevelopmental Disorders , Oculootofacial Dysplasia , pulmonary valve stenosis , Volvulus Of Midgut U2af1 acute myeloid leukemia , cataract 9 multiple types , developmental and epileptic encephalopathy 30 , genetic disease , head and neck squamous cell carcinoma , homocystinuria , human immunodeficiency virus infectious disease , lung adenocarcinoma , myelodysplastic syndrome , osteoporosis , pancreatic adenocarcinoma , primary ciliary dyskinesia , progressive myoclonus epilepsy , Prostatic Neoplasms , transitional cell carcinoma , uterine cancer , uterine carcinosarcoma , Uterine Cervical Neoplasms U2af2 developmental delay, dysmorphic facies, and brain anomalies , genetic disease , leukodystrophy , Neurodevelopmental Disorders U2surp Experimental Liver Cirrhosis , genetic disease Usp39 Colonic Neoplasms , Experimental Neoplasms , genetic disease , hereditary spastic paraplegia 31 Wbp11 autosomal dominant intellectual developmental disorder 6 , genetic disease , VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS Xab2 familial hemophagocytic lymphohistiocytosis 5 , genetic disease , mucolipidosis type IV Zmat2 autosomal dominant intellectual developmental disorder 31 , familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes , Neurodevelopmental Disorders
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Hnrnpr , Srsf10 3p deletion syndrome Lsm3 Acute Coronary Syndrome Hspa1a , Hspa8 acute kidney failure Hspa1a , Hspa8 Acute Liver Failure Hspa8 Acute Lung Injury Hnrnpc acute lymphoblastic leukemia Snrpe acute myeloid leukemia Dhx15 , Sf3b1 , Sf3b2 , Srsf2 , Srsf4 , U2af1 adenocarcinoma Hspa8 adenoid cystic carcinoma Sf3b1 adenylosuccinase lyase deficiency Phf5a , Snu13 adult T-cell leukemia/lymphoma Hnrnpa2b1 Agenesis of Corpus Callosum Dhx16 Aicardi-Goutieres Syndrome 3 Sart1 , Sf3b2 Aicardi-Goutieres Syndrome 5 Ctnnbl1 alkaptonuria Isy1 Alzheimer's disease Hnrnpa1 , Hnrnpa2b1 , Hspa1a , Hspa1b , Snrnp70 , Snrpa amyotrophic lateral sclerosis Hnrnpk amyotrophic lateral sclerosis type 20 Hnrnpa1 Animal Disease Models Hnrnpa1 , Snrpg Animal Mammary Neoplasms Hnrnpa1 , Ptbp1 , Snrpd3 , Srsf2 Arsenic Poisoning Hspa1b , Tra2a ataxia telangiectasia Cwc15 atherosclerosis Hnrnpc , Hspa1a , Hspa1b , Lsm4 atrial fibrillation Snrnp27 atrial heart septal defect Pqbp1 atypical chronic myeloid leukemia Srsf2 Au-Kline Syndrome Hnrnpk autism spectrum disorder Hnrnpu , Pqbp1 , Srsf1 , Srsf11 , Syncrip autistic disorder Ddx46 , Hnrnpm , Pigz , Pqbp1 , Prpf38b , Rbmx , Thoc1 , Thoc2 autosomal dominant dyskeratosis congenita 6 Dhx38 , Sf3b3 autosomal dominant intellectual developmental disorder 31 Hnrnpa0 , Zmat2 autosomal dominant intellectual developmental disorder 6 Wbp11 Autosomal Dominant Intellectual Developmental Disorder 72 Srrm2 Autosomal Dominant Intellectual Developmental Disorder 74 Hnrnpc Autosomal Dominant Nonsyndromic Deafness 86 Thoc1 autosomal recessive cutis laxa type IB Sart1 , Sf3b2 B-Cell Chronic Lymphocytic Leukemia Sf3b1 , Sf3b2 Bardet-Biedl syndrome Sart1 , Sf1 , Sf3b2 basal cell carcinoma Crnkl1 bilateral perisylvian polymicrogyria Ddx23 bipolar disorder Srsf3 Bloom syndrome Aqr brain cancer Hnrnpl brain disease Hnrnpk Brain Hypoxia-Ischemia Hspa1a Brain Injuries Hspa1a , Snw1 brain ischemia Hspa1b , Hspa8 Brain-Lung-Thyroid Syndrome Acin1 , Hnrnpc , Pnn breast cancer Bcas2 , Snw1 , Srsf5 breast carcinoma Snw1 Breast Neoplasms Hnrnpk , Hnrnpl , Hnrnpr , Hspa1b , Pcbp1 , Sf3b1 , Sf3b2 Brown-Vialetto-Van Laere syndrome 2 Puf60 Burn-McKeown syndrome Txnl4a Cachexia Ddx42 CAKUT Cdc5l , Dhx8 , Hspa1b carcinoma Hnrnpa1 , Ptbp1 , Snrpd3 , Srsf2 Cardiac Allograft Vasculopathy Hnrnpk Cardiomegaly Srsf1 cardiovascular system disease Hspa1a Carpenter Syndrome 2 Snrpa cataract 9 multiple types U2af1 cerebral creatine deficiency syndrome Ptbp1 cerebrocostomandibular syndrome Snrpb cervical cancer Hnrnpc , Hspa8 , Sf3b4 cervix uteri carcinoma in situ Srsf1 Charcot-Marie-Tooth disease dominant intermediate C Ppie , Ppih , Sf3a3 Charcot-Marie-Tooth disease type 2 Sf3b3 CHARGE syndrome Puf60 Chemical and Drug Induced Liver Injury Hspa8 Christianson syndrome Rbmx Chromosome 11, Partial Trisomy 11q Hspa8 chromosome 18q deletion syndrome Txnl4a chromosome 22q11.2 deletion syndrome, distal Ppil2 chromosome 3q29 microdeletion syndrome Pigz chromosome 4q21 deletion syndrome Hnrnpd Chromosome Xq26.3 Duplication Syndrome Rbmx chronic lymphocytic leukemia Sf3b1 , Sf3b2 chronic myelogenous leukemia, BCR-ABL1 positive Sf3b1 chronic myeloid leukemia Sf3b1 , Srsf1 chronic obstructive pulmonary disease Hspa1a , Hspa1b , Hspa1l clear cell renal cell carcinoma Srsf1 , Srsf2 , Srsf4 , Srsf5 , Srsf6 , Srsf7 colon adenocarcinoma Srsf4 , Srsf5 , Srsf6 colon cancer Eftud2 , Srsf1 Colonic Neoplasms Hspa2 , Usp39 colorectal cancer Aqr , Ctnnbl1 , Hnrnpk , Hnrnpu , Hspa8 , Tcerg1 colorectal carcinoma Hnrnpm Colorectal Neoplasms Hnrnpa1 , Hnrnph1 , Snrpf common variable immunodeficiency 4 Phf5a , Snu13 cone-rod dystrophy Snrnp200 cone-rod dystrophy 13 Hnrnpc congenital disorder of glycosylation Ii Ncbp1 congenital disorder of glycosylation type II Ncbp1 congenital disorder of glycosylation type IIm Pqbp1 Congenital Heart Defects, Multiple Types, 1, X-Linked Rbmx congenital hypoplastic anemia Snrpa congenital myasthenic syndrome 14 Ncbp1 congestive heart failure Srsf2 connective tissue disease Snrpa , Snrpa1 , Snrpb2 , Snrpc , Snrpd1 Cornelia de Lange syndrome 3 Smndc1 Coronary Disease Hspa1a Coronary Occlusion Hspa1a COVID-19 Pcbp1 , Tra2b craniosynostosis Snrpa Crohn's disease Hspa1l cyclic hematopoiesis Ptbp1 cystic fibrosis Hspa1a demyelinating disease Qki developmental and epileptic encephalopathy Prpf6 developmental and epileptic encephalopathy 1 Hnrnpu , Rnps1 developmental and epileptic encephalopathy 12 Snrnp70 developmental and epileptic encephalopathy 30 U2af1 developmental and epileptic encephalopathy 33 Prpf6 developmental and epileptic encephalopathy 54 Hnrnpu developmental delay, dysmorphic facies, and brain anomalies U2af2 Developmental Disabilities Aar2 , Ddx5 , Eftud2 , Rbm8a , Snrnp70 Developmental Disease Prpf8 Diabetic Foot Hspa1b Diabetic Nephropathies Hspa1a , Hspa1b , Hspa8 Diamond-Blackfan anemia Snrpa diffuse large B-cell lymphoma Bcas2 , Sf3a1 DiGeorge syndrome Ppil2 disease of cellular proliferation Snrpb2 disease of mental health Snrnp70 disease of metabolism Hspa8 Disease Progression Hnrnpl , Prpf19 , Snrpb , Tial1 distal myopathy 3 Hnrnpa1 Down syndrome Srsf4 drug allergy Hspa1a , Hspa1l Drug Hypersensitivity Syndrome Hspa1l Dwarfism Hspa8 early infantile epileptic encephalopathy Prpf6 Ehlers-Danlos syndrome dermatosparaxis type Hnrnpab , Hnrnph1 , Thoc3 Ehlers-Danlos syndrome spondylodysplastic type 2 Hnrnpab encephalitis Syf2 endometrial carcinoma Rnps1 Endometrial Neoplasms Srsf10 endometriosis Ddx5 Epidermal Hyperplasia Srsf6 epidermolysis bullosa simplex with muscular dystrophy Puf60 epilepsy Dhx15 , Dhx16 , Hnrnpu , Rnps1 , Snrpd3 , Srrm2 esophageal atresia Eftud2 esophagus adenocarcinoma Cdc5l Experimental Autoimmune Encephalomyelitis Qki , Srsf9 Experimental Autoimmune Orchitis Hnrnph1 Experimental Diabetes Mellitus Hnrnpa2b1 , Hnrnpk Experimental Liver Cirrhosis Tial1 , U2surp Experimental Mammary Neoplasms Hnrnpa1 , Hnrnpab , Ptbp1 , Snrpd3 , Srsf2 Experimental Neoplasms Puf60 , Usp39 facioscapulohumeral muscular dystrophy Hspa1b Failure to Thrive Ddx23 familial adenomatous polyposis 1 Ddx46 , Hnrnpa0 , Rbm22 , Tcerg1 , Zmat2 familial adult myoclonic epilepsy 5 Snrpe familial hemophagocytic lymphohistiocytosis 4 Sf3b5 familial hemophagocytic lymphohistiocytosis 5 Xab2 familial hyperlipidemia Hspa1b Familial Prostate Cancer Mbnl1 Fetal Growth Retardation Ddx23 focal epilepsy Ctnnbl1 , Srsf6 frontotemporal dementia Hnrnpa2b1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Hnrnph1 fundus dystrophy Dhx38 , Prpf3 , Prpf31 , Prpf4 , Prpf6 , Prpf8 , Snrnp200 gastric adenocarcinoma Hnrnpa0 gastrointestinal stromal tumor Hnrnpu , Prpf3 , Rbm8a , Sf3b4 , Snrpe Generalized Epilepsy Hnrnpu , Ncbp1 genetic disease Aar2 , Acin1 , Alyref , Aqr , Bcas2 , Bud31 , Ccdc12 , Cdc40 , Cdc5l , Cherp , Crnkl1 , Ctnnbl1 , Cwc15 , Ddx23 , Ddx39b , Ddx42 , Ddx46 , Ddx5 , Dhx15 , Dhx16 , Dhx38 , Dhx8 , Eftud2 , Eif4a3 , Hnrnpa0 , Hnrnpa1 , Hnrnpa2b1 , Hnrnpa3 , Hnrnpab , Hnrnpc , Hnrnpd , Hnrnph1 , Hnrnph3 , Hnrnpk , Hnrnpl , Hnrnpm , Hnrnpr , Hnrnpu , Hspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8 , Isy1 , Lsm3 , Lsm4 , Lsm5 , Lsm6 , Lsm7 , Magoh , Magohb , Mbnl1 , Ncbp1 , Pcbp1 , Pigz , Plrg1 , Pnn , Ppie , Ppig , Ppih , Ppil1 , Ppil2 , Ppil3 , Pqbp1 , Prpf18 , Prpf19 , Prpf3 , Prpf31 , Prpf38a , Prpf38b , Prpf4 , Prpf40a , Prpf6 , Prpf8 , Ptbp1 , Ptbp2 , Puf60 , Qki , Rbm17 , Rbm22 , Rbm25 , Rbm8a , Rbmx , Rbmxl1 , Rnps1 , Sart1 , Sart3 , Sf1 , Sf3a1 , Sf3a2 , Sf3a3 , Sf3b1 , Sf3b2 , Sf3b3 , Sf3b4 , Sf3b6 , Slu7 , Smndc1 , Snrnp200 , Snrnp27 , Snrnp40 , Snrnp70 , Snrpa , Snrpa1 , Snrpb , Snrpb2 , Snrpc , Snrpd1 , Snrpd2 , Snrpd3 , Snrpe , Snrpg , Snw1 , Srrm1 , Srrm2 , Srrm4 , Srsf1 , Srsf10 , Srsf11 , Srsf12 , Srsf2 , Srsf3 , Srsf4 , Srsf5 , Srsf6 , Srsf7 , Srsf9 , Syf2 , Syncrip , Tcerg1 , Thoc1 , Thoc2 , Thoc3 , Tial1 , Tra2a , Tra2b , Txnl4a , U2af1 , U2af2 , U2surp , Usp39 , Wbp11 , Xab2 , Zmat2 gestational diabetes Srrm1 Glomerular Hyperfiltration Srsf7 glycogen storage disease II Eif4a3 glycogen storage disease V Sart1 , Sf1 , Sf3b2 Goldenhar syndrome Sf3b2 graft-versus-host disease Hspa1a , Hspa1b , Hspa8 gray platelet syndrome Ccdc12 Growth Disorders Pqbp1 Head and Neck Neoplasms Srsf2 head and neck squamous cell carcinoma U2af1 Hearing Disorders Srrm4 Hearing Loss Eftud2 , Sf3b4 Hearing Loss, Noise-Induced Hspa1a , Hspa1b , Hspa1l Heat Stress Disorders Hspa1a Hemorrhagic Shock Hspa1a hepatitis B Eftud2 hepatocellular carcinoma Eftud2 , Hnrnpa1 , Hnrnpa2b1 , Hnrnpab , Hnrnpd , Hnrnph1 , Hnrnpl , Sf3b1 , Sf3b2 , Sf3b4 , Snrpe , Snw1 , Srsf1 , Srsf2 hereditary breast ovarian cancer syndrome Dhx8 Hereditary Neoplastic Syndromes Ddx46 , Hnrnpa0 , Rbm22 , Tcerg1 , Zmat2 hereditary spastic paraplegia Pqbp1 hereditary spastic paraplegia 31 Usp39 hereditary spastic paraplegia 47 Bcas2 hereditary spastic paraplegia 63 Prpf38b high grade glioma Qki , Sf1 High Myopia Prpf38b Hittner Hirsch Kreh Syndrome Puf60 holoprosencephaly Puf60 homocystinuria U2af1 human immunodeficiency virus infectious disease Alyref , Prpf8 , Sf3a3 , Snrpd3 , Srsf1 , Srsf9 , U2af1 Huntington's disease Hspa8 , Srsf6 Huntington's disease-like 1 Snrpb Hydatidiform Mole Eftud2 Hydrops Fetalis Prpf19 hyperkalemic periodic paralysis Ddx5 hypertension Hspa8 hypogonadism Snrpe Hypokalemic Periodic Paralysis, Type 1 Snrpe hypoparathyroidism-deafness-renal disease syndrome Prpf18 , Rbm17 hypotrichosis Snrpe hypotrichosis 1 Snrpe hypotrichosis 11 Snrpe Hypoxia Hspa1b idiopathic generalized epilepsy Rnps1 , Srrm2 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Pqbp1 immunodeficiency 21 Isy1 immunodeficiency 42 Prpf3 , Sf3b4 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias Ctnnbl1 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Hnrnpa2b1 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Hnrnpa1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia Hnrnpa1 , Hnrnpa2b1 inflammatory bowel disease Hspa8 inflammatory bowel disease 1 Hspa1l intellectual disability Cwc15 , Ddx23 , Dhx16 , Eif4a3 , Hnrnpk , Hnrnpu , Ncbp1 , Pqbp1 , Prpf19 , Rbm25 , Sart1 , Sf1 , Sf3b2 , Snrnp200 , Snrpb , Snrpd1 , Srsf1 , Srsf11 , Syncrip , Thoc2 intestinal volvulus Txnl4a ischemia Sf1 Joubert syndrome 1 Srsf1 Kawasaki disease Hspa1a , Hspa1l Kidney Reperfusion Injury Hspa8 Leber congenital amaurosis Prpf31 leiomyoma Hnrnpm leukemia Syncrip leukocyte adhesion deficiency 3 Prpf19 , Sf1 leukodystrophy Lsm7 , U2af2 liver disease Hspa1a , Srsf5 long QT syndrome Hnrnpm lung adenocarcinoma Hnrnpa1 , Snrpb , Snrpe , Snrpg , Srsf1 , Srsf2 , U2af1 lung cancer Hnrnpl , Srsf6 lung metastasis Sf3b4 Lung Neoplasms Cdc5l , Srsf1 lung non-small cell carcinoma Hnrnpa1 , Hnrnpa2b1 , Srsf1 , Srsf2 lung squamous cell carcinoma Srsf1 , Srsf2 lupus nephritis Snrpe Lynch syndrome Srsf7 lysinuric protein intolerance Acin1 macular degeneration Hspa8 , Srsf10 , Tra2b major depressive disorder Hspa1a , Hspa1l malignant astrocytoma Tial1 malignant mesothelioma Sf3b1 Mandibulofacial Dysostosis Eftud2 mandibulofacial dysostosis, Guion-Almeida type Eftud2 maple syrup urine disease Snrpa maturity-onset diabetes of the young type 1 Hnrnpl medulloblastoma Sf3b2 megacolon Ddx39b , Dhx16 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Lsm4 melanoma Crnkl1 , Hspa1a , Sf1 Meniere's disease Hspa1a Mesothelioma Puf60 methylmalonic acidemia cblA type Lsm6 MHC class II deficiency Prpf3 , Sf3b4 microcephaly Eftud2 , Ppil1 , Pqbp1 Micrognathism Sf3b4 mixed connective tissue disease Snrpb , Snrpc morbid obesity Ctnnbl1 Mouth Neoplasms Hspa8 mucolipidosis type IV Hnrnpm , Xab2 mucopolysaccharidosis type IIIA Eif4a3 multiple sclerosis Hspa8 Muscle Hypotonia Hnrnpk myelodysplastic syndrome Ddx42 , Sf3b1 , Sf3b2 , Srsf11 , Srsf2 , U2af1 myeloid leukemia Srsf1 myeloid leukemia associated with Down Syndrome Srsf2 myocardial infarction Srsf1 Myocardial Ischemia Hspa1a , Hspa2 Myocardial Reperfusion Injury Hspa1a Myoclonic Epilepsies Hnrnpu myositis Srsf1 Myotonia Mbnl1 myotonic disease Mbnl1 Nager acrofacial dysostosis Sf3b4 nasopharynx carcinoma Snrpd1 , Snrpe , Snrpf , Snrpg Necrosis Puf60 Neoplasm Metastasis Hspa1a , Srsf1 , Srsf2 , Srsf5 , Srsf6 nephritis Snrpd1 nephronophthisis Ncbp1 neuroblastoma Snrpe neurodegeneration with brain iron accumulation 5 Pqbp1 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects Hnrnph1 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities Srsf1 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES Hnrnpr NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES Puf60 Neurodevelopmental Disorders Ddx23 , Ddx39b , Ddx46 , Dhx16 , Eftud2 , Hnrnpa0 , Hnrnpa1 , Hnrnpu , Lsm7 , Pcbp1 , Ppil1 , Ppil3 , Prpf8 , Sf1 , Sf3a2 , Sf3b1 , Srrm2 , Syncrip , Tcerg1 , Thoc1 , Thoc2 , Txnl4a , U2af2 , Zmat2 Neuromuscular Oculoauditory Syndrome Dhx16 neuronal ceroid lipofuscinosis Prpf6 Niemann-Pick disease type C1 Snrpd1 obesity Hspa1b Ocular Paraneoplastic Syndromes Hspa8 Oculootofacial Dysplasia Txnl4a Oculopharyngeal Muscular Dystrophy 2 Hnrnpa2b1 Optic Nerve Injuries Snw1 Osteoarthritis, Experimental Hspa1a osteoporosis U2af1 osteosarcoma Cdc5l , Ptbp1 ovarian cyst Magohb Ovarian Neoplasms Srsf1 , Srsf10 ovary epithelial cancer Srsf3 pancreatic adenocarcinoma Sf3b2 , U2af1 pancreatic cancer Eif4a3 , Sf3b4 , Snw1 pancreatic carcinoma Hnrnpa2b1 pancreatic ductal adenocarcinoma Hspa8 pancreatic ductal carcinoma Hspa1a , Hspa1b pantothenate kinase-associated neurodegeneration Snrpb paranoid schizophrenia Hspa1a parathyroid carcinoma Hnrnpu , Prpf3 , Rbm8a , Sf3b4 , Snrpe Parkinson's disease Hspa1a , Hspa8 , Srrm2 Parkinsonism Hspa1a Perinatal Asphyxia Hnrnpk Peters anomaly Prpf8 Pituitary Neoplasms Hnrnpk , Srsf1 pityriasis rubra pilaris Eif4a3 pleomorphic xanthoastrocytoma Bud31 , Hnrnpa2b1 , Lsm5 , Lsm8 , Tra2a polycystic ovary syndrome Lsm5 , Srsf10 pontocerebellar hypoplasia Cdc40 , Ppil1 pontocerebellar hypoplasia type 14 Ppil1 pontocerebellar hypoplasia type 15 Cdc40 Porokeratosis 3, Multiple Types Sart3 primary ciliary dyskinesia U2af1 Primary Lymphedema with Myelodysplasia Isy1 primary progressive multiple sclerosis Hnrnpa1 Primary Pulmonary Hypertension, 1 Ppil3 progressive familial heart block type IB Snrnp70 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Ccdc12 progressive myoclonus epilepsy U2af1 progressive myoclonus epilepsy 9 Lsm7 , Sf3a2 progressive supranuclear palsy Srsf2 , Tra2b proliferative diabetic retinopathy Srsf6 prostate cancer Hnrnpk , Sf3b3 , Snrpe Prostatic Neoplasms Hnrnph1 , Hnrnpk , Hspa1a , Sf3b1 , U2af1 proteasome-associated autoinflammatory syndrome 1 Ddx39b , Hspa1a , Hspa1b , Hspa1l , Lsm2 , Ppil1 , Snrpc , Srsf3 proteinuria Snrpd1 Pulmonary Arterial Hypertension Ppil3 pulmonary fibrosis Hspa1a , Hspa1b pulmonary neuroendocrine tumor Srsf2 pulmonary valve stenosis Txnl4a purine nucleoside phosphorylase deficiency Hnrnpc RASopathy Bcas2 , Srsf7 Raynaud disease Hnrnpk Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Sart1 , Sf3b2 relapsing-remitting multiple sclerosis Hnrnpa1 , Hspa8 renal cell carcinoma Sf3b1 , Sf3b2 Renal Cell Carcinoma 1 Sf3b1 , Sf3b2 renal hypertension Hspa8 renovascular hypertension Srsf1 Renpenning syndrome Pqbp1 Reperfusion Injury Hspa1a , Hspa1b , Hspa8 retinitis pigmentosa Dhx38 , Prpf3 , Prpf31 , Prpf6 , Prpf8 , Snrnp200 retinitis pigmentosa 11 Prpf31 retinitis pigmentosa 13 Prpf8 retinitis pigmentosa 14 Prpf8 retinitis pigmentosa 18 Prpf3 retinitis pigmentosa 33 Snrnp200 retinitis pigmentosa 60 Prpf6 retinitis pigmentosa 70 Prpf4 retinitis pigmentosa 84 Dhx38 rheumatoid arthritis Hnrnpa2b1 Richieri Costa Pereira Syndrome Eif4a3 schistosomiasis Bud31 schizophrenia Hnrnpa3 , Hspa1a , Hspa1b , Hspa1l , Hspa8 , Mbnl1 , Pigz , Rbm17 , Rbm8a , Snrnp200 , Snrpd3 , Srsf1 sciatic neuropathy Snw1 secondary progressive multiple sclerosis Hnrnpa1 senile cataract Hspa1b Senior-Loken Syndrome 7 Hnrnpu Sertoli cell-only syndrome Hnrnpl severe congenital neutropenia 3 Prpf3 , Sf3b4 severe congenital neutropenia 5 Prpf3 , Sf3b4 short-rib thoracic dysplasia 9 with or without polydactyly Rnps1 , Srrm2 silicosis Hnrnpa3 Sjogren's syndrome Hnrnph1 skin cancer Srsf6 skin disease Hspa1b , Tra2a skin melanoma Crnkl1 , Sf3b1 , Sf3b2 skin squamous cell carcinoma Ddx5 Soft Tissue Neoplasms Snrpd3 Sotos syndrome Hnrnpab , Hnrnph1 , Thoc3 Specific Granule Deficiency Acin1 spermatogenic failure 3 Srsf6 Spinal Cord Injuries Rbmx spinocerebellar ataxia type 17 Hspa8 Spinocerebellar Ataxias Rbm17 split hand-foot malformation 5 Hnrnpa3 Spontaneous Abortions Eftud2 squamous cell carcinoma Hspa8 Stargardt disease Snrnp200 status epilepticus Hspa1a STING-associated vasculopathy with onset in infancy Hnrnpa0 stomach cancer Srsf1 Stomach Neoplasms Hnrnpl , Hspa8 , Prpf19 , Snrpb Stroke Prpf8 substance-related disorder Prpf4 Sudden Hearing Loss Hspa1a , Hspa1b , Hspa1l syndromic X-linked intellectual developmental disorder Bain type Hnrnph1 syndromic X-linked intellectual disability Lubs type Pqbp1 , Rbmx , Thoc2 syndromic X-linked intellectual disability Shashi type Rbmx systemic lupus erythematosus Hspa1a , Hspa1l , Snrnp70 , Snrpc , Snrpd1 , Snrpd2 , Snrpd3 systemic scleroderma Hnrnpl systolic heart failure Hspa1a thoracic aortic aneurysm Ncbp1 thrombocytopenia-absent radius syndrome Rbm8a toxic encephalopathy Srsf5 toxic shock syndrome Hspa1b Tracheoesophageal Fistula Eftud2 transient cerebral ischemia Hnrnpa2b1 , Hnrnpab , Hspa8 , Tial1 transitional cell carcinoma Sf3b1 , U2af1 tropical spastic paraparesis Hnrnpa1 type 1 diabetes mellitus Ddx39b type 2 diabetes mellitus Hnrnpl , Hspa1b uremia Hnrnpd urinary bladder cancer Hspa1a , Srsf9 urinary tract infection Hspa1b uterine cancer U2af1 uterine carcinosarcoma U2af1 Uterine Cervical Neoplasms U2af1 uveal melanoma Sf3b1 uveitis Hspa1l vascular dementia Hspa1a Verheij Syndrome Puf60 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS Wbp11 vestibular disease Srrm4 visual epilepsy Hspa1a vitiligo Hspa1a Volvulus Of Midgut Txnl4a Wallerian Degeneration Srsf3 Weight Gain Slu7 Weissenbacher-Zweymuller syndrome Snrpb X Chromosome, Trisomy Xq25 Thoc2 X-linked epilepsy with variable learning disabilities and behavior disorders Pqbp1 X-linked hyper IgM syndrome Rbmx X-Linked Intellectual Developmental Disorders Pqbp1 X-linked intellectual disability-short stature-overweight syndrome Thoc2 X-linked lymphoproliferative syndrome 2 Thoc2 X-linked mental retardation Gustavson type Rbmx X-linked severe congenital neutropenia Pqbp1