Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79042
Gene name	TRNA splicing endonuclease subunit 34
Gene symbol	TSEN34
Synonyms (NCBI Gene)	LENG5PCH2CSEN34SEN34L
Chromosome	19
Chromosome location	19q13.42
Summary	This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene result

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1246937494	->CTGC	Likely-pathogenic	Coding sequence variant, frameshift variant

226

Show/Hide all (226)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025748	hsa-miR-7-5p	Microarray	19073608
MIRT029248	hsa-miR-26b-5p	Microarray	19088304
MIRT048138	hsa-miR-197-3p	CLASH	23622248
MIRT041464	hsa-miR-193b-3p	CLASH	23622248
MIRT545081	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	HITS-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707493	hsa-miR-129-5p	HITS-CLIP	21572407
MIRT545081	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT492048	hsa-miR-4803	PAR-CLIP	23592263
MIRT492047	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT492046	hsa-miR-619-3p	PAR-CLIP	23592263
MIRT235433	hsa-miR-4255	PAR-CLIP	23592263
MIRT235439	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT235438	hsa-miR-6073	PAR-CLIP	23592263
MIRT545081	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	HITS-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707493	hsa-miR-129-5p	HITS-CLIP	21572407
MIRT545081	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT492048	hsa-miR-4803	PAR-CLIP	23592263
MIRT492047	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT492046	hsa-miR-619-3p	PAR-CLIP	23592263
MIRT235433	hsa-miR-4255	PAR-CLIP	23592263
MIRT235439	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT235438	hsa-miR-6073	PAR-CLIP	23592263
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458483	hsa-miR-302a	CLIP-seq
MIRT1458484	hsa-miR-302b	CLIP-seq
MIRT1458485	hsa-miR-302c	CLIP-seq
MIRT1458486	hsa-miR-302d	CLIP-seq
MIRT1458487	hsa-miR-302e	CLIP-seq
MIRT1458488	hsa-miR-3120-5p	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT1458490	hsa-miR-3194-3p	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT1458495	hsa-miR-372	CLIP-seq
MIRT1458496	hsa-miR-373	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT1458501	hsa-miR-4705	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT1458504	hsa-miR-494	CLIP-seq
MIRT1458505	hsa-miR-519a	CLIP-seq
MIRT1458506	hsa-miR-519b-3p	CLIP-seq
MIRT1458507	hsa-miR-519c-3p	CLIP-seq
MIRT1458508	hsa-miR-520a-3p	CLIP-seq
MIRT1458509	hsa-miR-520b	CLIP-seq
MIRT1458510	hsa-miR-520c-3p	CLIP-seq
MIRT1458511	hsa-miR-520d-3p	CLIP-seq
MIRT1458512	hsa-miR-520e	CLIP-seq
MIRT1458513	hsa-miR-520f	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT1458515	hsa-miR-181a	CLIP-seq
MIRT1458516	hsa-miR-181b	CLIP-seq
MIRT1458517	hsa-miR-181c	CLIP-seq
MIRT1458518	hsa-miR-181d	CLIP-seq
MIRT1458519	hsa-miR-298	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458520	hsa-miR-3613-3p	CLIP-seq
MIRT1458521	hsa-miR-3671	CLIP-seq
MIRT1458522	hsa-miR-3678-3p	CLIP-seq
MIRT1458523	hsa-miR-410	CLIP-seq
MIRT1458524	hsa-miR-4262	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT1458501	hsa-miR-4705	CLIP-seq
MIRT1458525	hsa-miR-4729	CLIP-seq
MIRT1458526	hsa-miR-4762-5p	CLIP-seq
MIRT1458527	hsa-miR-607	CLIP-seq
MIRT2137607	hsa-miR-1343	CLIP-seq
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT2137608	hsa-miR-3663-5p	CLIP-seq
MIRT2137609	hsa-miR-371-5p	CLIP-seq
MIRT2137610	hsa-miR-371b-5p	CLIP-seq
MIRT2137611	hsa-miR-378g	CLIP-seq
MIRT2137612	hsa-miR-4312	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT2137613	hsa-miR-4437	CLIP-seq
MIRT2137614	hsa-miR-4487	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT2137615	hsa-miR-4674	CLIP-seq
MIRT1458501	hsa-miR-4705	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT2137616	hsa-miR-4757-5p	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT2358424	hsa-miR-1253	CLIP-seq
MIRT2358425	hsa-miR-1265	CLIP-seq
MIRT2358426	hsa-miR-134	CLIP-seq
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458519	hsa-miR-298	CLIP-seq
MIRT2358427	hsa-miR-3118	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT2358428	hsa-miR-3155	CLIP-seq
MIRT2358429	hsa-miR-3155b	CLIP-seq
MIRT2358430	hsa-miR-3164	CLIP-seq
MIRT2358431	hsa-miR-3189-5p	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT2358432	hsa-miR-3605-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT1458522	hsa-miR-3678-3p	CLIP-seq
MIRT2358433	hsa-miR-3919	CLIP-seq
MIRT1458523	hsa-miR-410	CLIP-seq
MIRT2358434	hsa-miR-4266	CLIP-seq
MIRT2358435	hsa-miR-4305	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT2358436	hsa-miR-4691-3p	CLIP-seq
MIRT2358437	hsa-miR-4695-5p	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT2358438	hsa-miR-4777-5p	CLIP-seq
MIRT2358439	hsa-miR-4779	CLIP-seq
MIRT2358440	hsa-miR-484	CLIP-seq
MIRT2358441	hsa-miR-518d-5p	CLIP-seq
MIRT2358442	hsa-miR-519b-5p	CLIP-seq
MIRT2358443	hsa-miR-519c-5p	CLIP-seq
MIRT2358444	hsa-miR-520c-5p	CLIP-seq
MIRT2358445	hsa-miR-526a	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT2358446	hsa-miR-548m	CLIP-seq
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT2651651	hsa-miR-10a	CLIP-seq
MIRT2651652	hsa-miR-10b	CLIP-seq
MIRT2651653	hsa-miR-1245b-3p	CLIP-seq
MIRT2358424	hsa-miR-1253	CLIP-seq
MIRT2358425	hsa-miR-1265	CLIP-seq
MIRT2651654	hsa-miR-128	CLIP-seq
MIRT2651655	hsa-miR-1283	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT2651656	hsa-miR-27a	CLIP-seq
MIRT2651657	hsa-miR-27b	CLIP-seq
MIRT2358431	hsa-miR-3189-5p	CLIP-seq
MIRT2358432	hsa-miR-3605-5p	CLIP-seq
MIRT1458520	hsa-miR-3613-3p	CLIP-seq
MIRT2651658	hsa-miR-3647-3p	CLIP-seq
MIRT2358433	hsa-miR-3919	CLIP-seq
MIRT2358434	hsa-miR-4266	CLIP-seq
MIRT2651659	hsa-miR-4302	CLIP-seq
MIRT2358435	hsa-miR-4305	CLIP-seq
MIRT2358437	hsa-miR-4695-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT2358438	hsa-miR-4777-5p	CLIP-seq
MIRT2358439	hsa-miR-4779	CLIP-seq
MIRT1458504	hsa-miR-494	CLIP-seq
MIRT2358441	hsa-miR-518d-5p	CLIP-seq
MIRT2358442	hsa-miR-519b-5p	CLIP-seq
MIRT2358443	hsa-miR-519c-5p	CLIP-seq
MIRT2358444	hsa-miR-520c-5p	CLIP-seq
MIRT2358445	hsa-miR-526a	CLIP-seq
MIRT2651660	hsa-miR-548ae	CLIP-seq
MIRT2651661	hsa-miR-548aj	CLIP-seq
MIRT2651662	hsa-miR-548am	CLIP-seq
MIRT2358446	hsa-miR-548m	CLIP-seq
MIRT2651663	hsa-miR-548x	CLIP-seq
MIRT2651664	hsa-miR-570	CLIP-seq
MIRT2651665	hsa-miR-606	CLIP-seq
MIRT2651666	hsa-miR-619	CLIP-seq
MIRT2651651	hsa-miR-10a	CLIP-seq
MIRT2651652	hsa-miR-10b	CLIP-seq
MIRT2651653	hsa-miR-1245b-3p	CLIP-seq
MIRT2358425	hsa-miR-1265	CLIP-seq
MIRT2358431	hsa-miR-3189-5p	CLIP-seq
MIRT2358432	hsa-miR-3605-5p	CLIP-seq
MIRT1458520	hsa-miR-3613-3p	CLIP-seq
MIRT2358434	hsa-miR-4266	CLIP-seq
MIRT2358435	hsa-miR-4305	CLIP-seq
MIRT2358437	hsa-miR-4695-5p	CLIP-seq
MIRT2358438	hsa-miR-4777-5p	CLIP-seq
MIRT2358439	hsa-miR-4779	CLIP-seq
MIRT1458504	hsa-miR-494	CLIP-seq
MIRT2358441	hsa-miR-518d-5p	CLIP-seq
MIRT2358442	hsa-miR-519b-5p	CLIP-seq
MIRT2358443	hsa-miR-519c-5p	CLIP-seq
MIRT2358444	hsa-miR-520c-5p	CLIP-seq
MIRT2358445	hsa-miR-526a	CLIP-seq
MIRT2651660	hsa-miR-548ae	CLIP-seq
MIRT2651661	hsa-miR-548aj	CLIP-seq
MIRT2651662	hsa-miR-548am	CLIP-seq
MIRT2358446	hsa-miR-548m	CLIP-seq
MIRT2651663	hsa-miR-548x	CLIP-seq
MIRT2651664	hsa-miR-570	CLIP-seq
MIRT2651666	hsa-miR-619	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence
GO:0000213	Function	TRNA-intron lyase activity	IBA
GO:0000213	Function	TRNA-intron lyase activity	IEA
GO:0000214	Component	TRNA-intron endonuclease complex	IEA
GO:0000379	Process	TRNA-type intron splice site recognition and cleavage	IBA
GO:0000379	Process	TRNA-type intron splice site recognition and cleavage	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0016829	Function	Lyase activity	IEA

MIM	HGNC	e!Ensembl
608754	15506	ENSG00000170892

Q9BSV6

Protein name

tRNA-splicing endonuclease subunit Sen34 (EC 4.6.1.16) (Leukocyte receptor cluster member 5) (tRNA-intron endonuclease Sen34) (HsSen34)

Protein function

Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intr

PDB

6Z9U , 7UXA , 7ZRZ , 8HMY , 8HMZ , 8ISS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01974	tRNA_int_endo	217 → 301	tRNA intron endonuclease, catalytic C-terminal domain	Domain

Sequence

MLVVEVANGRSLVWGAEAVQALRERLGVGGRTVGALPRGPRQNSRLGLPLLLMPEEARLL
AEIGAVTLVSAPRPDSRHHSLALTSFKRQQEESFQEQSALAAEARETRRQELLEKITEGQ
AAKKQKLEQASGASSSQEAGSSQAAKEDETSDGQASGEQEEAGPSSSQAGPSNGVAPLPR
SALLVQLATARPRPVKARPLDWRVQSKDWPHAGRPAHELRYSIYRDLWERGFFLSAAGKF
GGDFLVYPGDPLRFHAHYIAQCWAPEDTIPLQDLVAAGRLGTSVRKTLLLCSPQPDGKVV
YTSLQWASLQ

Sequence length

310

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pontocerebellar hypoplasia type 2C	Pathogenic; Likely pathogenic	rs113994150, rs1246937494	RCV000002206 RCV000991058	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEGLUTITION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 2	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontoneocerebellar hypoplasia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TSEN34-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	20952379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CTD_human_DG	18711368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Dysphagia	Esophageal Dysphagia	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	18711368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	18711368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CTD_human_DG	18711368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2	Pontoneocerebellar hypoplasia	ORPHANET_DG	18711368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 2	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 2	Pontocerebellar hypoplasia	Pubtator	20803644	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 2A	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2C	Pontoneocerebellar hypoplasia	UNIPROT_DG	18711368		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar Hypoplasia Type 2C	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	18711368, 20952379		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar Hypoplasia Type 2C	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar Hypoplasia Type 2C	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	20952379		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Profound Mental Retardation	Mental retardation	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disability	Vision Disability	CTD_human_DG	18711368		★★★★★ ★☆☆☆☆ Found in Text Mining only

TSEN34 (tRNA splicing endonuclease subunit 34)