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	116461
Gene name	TRNA splicing endonuclease subunit 15
Gene symbol	TSEN15
Synonyms (NCBI Gene)	C1orf19PCH2Fsen15
Chromosome	1
Chromosome location	1q25.3
Summary	This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by Ref

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882223	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879253779	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs879253780	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

254

Show/Hide all (254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052033	hsa-let-7b-5p	CLASH	23622248
MIRT044997	hsa-miR-186-5p	CLASH	23622248
MIRT1458384	hsa-miR-1208	CLIP-seq
MIRT1458385	hsa-miR-1243	CLIP-seq
MIRT1458386	hsa-miR-150	CLIP-seq
MIRT1458387	hsa-miR-185	CLIP-seq
MIRT1458388	hsa-miR-188-3p	CLIP-seq
MIRT1458389	hsa-miR-190	CLIP-seq
MIRT1458390	hsa-miR-190b	CLIP-seq
MIRT1458391	hsa-miR-193a-5p	CLIP-seq
MIRT1458392	hsa-miR-2054	CLIP-seq
MIRT1458393	hsa-miR-30a	CLIP-seq
MIRT1458394	hsa-miR-30b	CLIP-seq
MIRT1458395	hsa-miR-30c	CLIP-seq
MIRT1458396	hsa-miR-30d	CLIP-seq
MIRT1458397	hsa-miR-30e	CLIP-seq
MIRT1458398	hsa-miR-3125	CLIP-seq
MIRT1458399	hsa-miR-3148	CLIP-seq
MIRT1458400	hsa-miR-3161	CLIP-seq
MIRT1458401	hsa-miR-3613-5p	CLIP-seq
MIRT1458402	hsa-miR-3617	CLIP-seq
MIRT1458403	hsa-miR-3654	CLIP-seq
MIRT1458404	hsa-miR-3689a-5p	CLIP-seq
MIRT1458405	hsa-miR-3689b	CLIP-seq
MIRT1458406	hsa-miR-3689e	CLIP-seq
MIRT1458407	hsa-miR-3689f	CLIP-seq
MIRT1458408	hsa-miR-3916	CLIP-seq
MIRT1458409	hsa-miR-4272	CLIP-seq
MIRT1458410	hsa-miR-4306	CLIP-seq
MIRT1458411	hsa-miR-4501	CLIP-seq
MIRT1458412	hsa-miR-4644	CLIP-seq
MIRT1458413	hsa-miR-4713-5p	CLIP-seq
MIRT1458414	hsa-miR-4735-5p	CLIP-seq
MIRT1458415	hsa-miR-4768-5p	CLIP-seq
MIRT1458416	hsa-miR-498	CLIP-seq
MIRT1458417	hsa-miR-532-3p	CLIP-seq
MIRT1458418	hsa-miR-548a-5p	CLIP-seq
MIRT1458419	hsa-miR-548ab	CLIP-seq
MIRT1458420	hsa-miR-548ak	CLIP-seq
MIRT1458421	hsa-miR-548b-5p	CLIP-seq
MIRT1458422	hsa-miR-548c-5p	CLIP-seq
MIRT1458423	hsa-miR-548d-5p	CLIP-seq
MIRT1458424	hsa-miR-548h	CLIP-seq
MIRT1458425	hsa-miR-548i	CLIP-seq
MIRT1458426	hsa-miR-548j	CLIP-seq
MIRT1458427	hsa-miR-548n	CLIP-seq
MIRT1458428	hsa-miR-548w	CLIP-seq
MIRT1458429	hsa-miR-548y	CLIP-seq
MIRT1458430	hsa-miR-559	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT1458432	hsa-miR-570	CLIP-seq
MIRT1458433	hsa-miR-641	CLIP-seq
MIRT2137566	hsa-miR-1224-3p	CLIP-seq
MIRT1458385	hsa-miR-1243	CLIP-seq
MIRT2137567	hsa-miR-1260	CLIP-seq
MIRT2137568	hsa-miR-1260b	CLIP-seq
MIRT2137569	hsa-miR-1264	CLIP-seq
MIRT2137570	hsa-miR-1280	CLIP-seq
MIRT2137571	hsa-miR-135a	CLIP-seq
MIRT2137572	hsa-miR-135b	CLIP-seq
MIRT1458391	hsa-miR-193a-5p	CLIP-seq
MIRT2137573	hsa-miR-2110	CLIP-seq
MIRT2137574	hsa-miR-2113	CLIP-seq
MIRT2137575	hsa-miR-218	CLIP-seq
MIRT1458393	hsa-miR-30a	CLIP-seq
MIRT1458394	hsa-miR-30b	CLIP-seq
MIRT1458395	hsa-miR-30c	CLIP-seq
MIRT1458396	hsa-miR-30d	CLIP-seq
MIRT1458397	hsa-miR-30e	CLIP-seq
MIRT2137576	hsa-miR-3140-3p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT2137580	hsa-miR-3614-5p	CLIP-seq
MIRT1458402	hsa-miR-3617	CLIP-seq
MIRT1458403	hsa-miR-3654	CLIP-seq
MIRT2137581	hsa-miR-371-5p	CLIP-seq
MIRT2137582	hsa-miR-371b-5p	CLIP-seq
MIRT2137583	hsa-miR-3924	CLIP-seq
MIRT2137584	hsa-miR-4271	CLIP-seq
MIRT2137585	hsa-miR-4274	CLIP-seq
MIRT2137586	hsa-miR-4487	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2137588	hsa-miR-4502	CLIP-seq
MIRT2137589	hsa-miR-451b	CLIP-seq
MIRT2137590	hsa-miR-4667-5p	CLIP-seq
MIRT2137591	hsa-miR-4700-5p	CLIP-seq
MIRT2137592	hsa-miR-4725-3p	CLIP-seq
MIRT2137593	hsa-miR-4762-5p	CLIP-seq
MIRT2137594	hsa-miR-4775	CLIP-seq
MIRT2137595	hsa-miR-4796-5p	CLIP-seq
MIRT2137596	hsa-miR-556-5p	CLIP-seq
MIRT2137597	hsa-miR-558	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT2137598	hsa-miR-590-3p	CLIP-seq
MIRT2137599	hsa-miR-604	CLIP-seq
MIRT2137600	hsa-miR-619	CLIP-seq
MIRT2137601	hsa-miR-622	CLIP-seq
MIRT2137602	hsa-miR-636	CLIP-seq
MIRT1458433	hsa-miR-641	CLIP-seq
MIRT2137603	hsa-miR-647	CLIP-seq
MIRT2137604	hsa-miR-668	CLIP-seq
MIRT2137605	hsa-miR-885-3p	CLIP-seq
MIRT2137606	hsa-miR-890	CLIP-seq
MIRT2358401	hsa-miR-1255a	CLIP-seq
MIRT2358402	hsa-miR-1255b	CLIP-seq
MIRT2358403	hsa-miR-15a	CLIP-seq
MIRT2358404	hsa-miR-15b	CLIP-seq
MIRT2358405	hsa-miR-16	CLIP-seq
MIRT2358406	hsa-miR-195	CLIP-seq
MIRT1458392	hsa-miR-2054	CLIP-seq
MIRT2137573	hsa-miR-2110	CLIP-seq
MIRT2358407	hsa-miR-3065-5p	CLIP-seq
MIRT2358408	hsa-miR-3120-3p	CLIP-seq
MIRT2358409	hsa-miR-3157-5p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT1458401	hsa-miR-3613-5p	CLIP-seq
MIRT2137580	hsa-miR-3614-5p	CLIP-seq
MIRT2358410	hsa-miR-424	CLIP-seq
MIRT2137584	hsa-miR-4271	CLIP-seq
MIRT1458409	hsa-miR-4272	CLIP-seq
MIRT2137586	hsa-miR-4487	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2358411	hsa-miR-4519	CLIP-seq
MIRT2358412	hsa-miR-4691-3p	CLIP-seq
MIRT2137592	hsa-miR-4725-3p	CLIP-seq
MIRT2358413	hsa-miR-4782-5p	CLIP-seq
MIRT2358414	hsa-miR-485-3p	CLIP-seq
MIRT2358415	hsa-miR-497	CLIP-seq
MIRT1458418	hsa-miR-548a-5p	CLIP-seq
MIRT1458419	hsa-miR-548ab	CLIP-seq
MIRT1458420	hsa-miR-548ak	CLIP-seq
MIRT1458421	hsa-miR-548b-5p	CLIP-seq
MIRT1458422	hsa-miR-548c-5p	CLIP-seq
MIRT1458423	hsa-miR-548d-5p	CLIP-seq
MIRT1458424	hsa-miR-548h	CLIP-seq
MIRT1458425	hsa-miR-548i	CLIP-seq
MIRT1458426	hsa-miR-548j	CLIP-seq
MIRT1458427	hsa-miR-548n	CLIP-seq
MIRT2358416	hsa-miR-548t	CLIP-seq
MIRT1458428	hsa-miR-548w	CLIP-seq
MIRT1458429	hsa-miR-548y	CLIP-seq
MIRT2358417	hsa-miR-549	CLIP-seq
MIRT2137596	hsa-miR-556-5p	CLIP-seq
MIRT2137597	hsa-miR-558	CLIP-seq
MIRT1458430	hsa-miR-559	CLIP-seq
MIRT2358418	hsa-miR-603	CLIP-seq
MIRT2137604	hsa-miR-668	CLIP-seq
MIRT2137606	hsa-miR-890	CLIP-seq
MIRT2651615	hsa-miR-124	CLIP-seq
MIRT2651616	hsa-miR-1291	CLIP-seq
MIRT2137571	hsa-miR-135a	CLIP-seq
MIRT2137572	hsa-miR-135b	CLIP-seq
MIRT2137574	hsa-miR-2113	CLIP-seq
MIRT2651617	hsa-miR-22	CLIP-seq
MIRT2358407	hsa-miR-3065-5p	CLIP-seq
MIRT2651618	hsa-miR-3150a-3p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2651619	hsa-miR-3163	CLIP-seq
MIRT2651620	hsa-miR-3175	CLIP-seq
MIRT2651621	hsa-miR-3176	CLIP-seq
MIRT2651622	hsa-miR-328	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT2651623	hsa-miR-3662	CLIP-seq
MIRT2651624	hsa-miR-3677-5p	CLIP-seq
MIRT2651625	hsa-miR-3922-3p	CLIP-seq
MIRT2137583	hsa-miR-3924	CLIP-seq
MIRT2651626	hsa-miR-3926	CLIP-seq
MIRT2651627	hsa-miR-4464	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2651628	hsa-miR-4645-3p	CLIP-seq
MIRT2137590	hsa-miR-4667-5p	CLIP-seq
MIRT2137591	hsa-miR-4700-5p	CLIP-seq
MIRT2651629	hsa-miR-4748	CLIP-seq
MIRT2651630	hsa-miR-4776-3p	CLIP-seq
MIRT2137595	hsa-miR-4796-5p	CLIP-seq
MIRT2651631	hsa-miR-506	CLIP-seq
MIRT2651632	hsa-miR-548ac	CLIP-seq
MIRT2651633	hsa-miR-548ae	CLIP-seq
MIRT2651634	hsa-miR-548aj	CLIP-seq
MIRT2651635	hsa-miR-548am	CLIP-seq
MIRT2651636	hsa-miR-548an	CLIP-seq
MIRT2651637	hsa-miR-548d-3p	CLIP-seq
MIRT2651638	hsa-miR-548s	CLIP-seq
MIRT2651639	hsa-miR-548x	CLIP-seq
MIRT2651640	hsa-miR-548z	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT2137599	hsa-miR-604	CLIP-seq
MIRT2651641	hsa-miR-624	CLIP-seq
MIRT2137603	hsa-miR-647	CLIP-seq
MIRT2137604	hsa-miR-668	CLIP-seq
MIRT2651642	hsa-miR-939	CLIP-seq
MIRT2651615	hsa-miR-124	CLIP-seq
MIRT2137569	hsa-miR-1264	CLIP-seq
MIRT2651616	hsa-miR-1291	CLIP-seq
MIRT2137571	hsa-miR-135a	CLIP-seq
MIRT2137572	hsa-miR-135b	CLIP-seq
MIRT2694288	hsa-miR-186	CLIP-seq
MIRT2137574	hsa-miR-2113	CLIP-seq
MIRT2651617	hsa-miR-22	CLIP-seq
MIRT2358407	hsa-miR-3065-5p	CLIP-seq
MIRT2694289	hsa-miR-3133	CLIP-seq
MIRT2137576	hsa-miR-3140-3p	CLIP-seq
MIRT2651618	hsa-miR-3150a-3p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2651619	hsa-miR-3163	CLIP-seq
MIRT2651620	hsa-miR-3175	CLIP-seq
MIRT2651621	hsa-miR-3176	CLIP-seq
MIRT2651622	hsa-miR-328	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT2694290	hsa-miR-3620	CLIP-seq
MIRT2694291	hsa-miR-3653	CLIP-seq
MIRT2694292	hsa-miR-3658	CLIP-seq
MIRT2651623	hsa-miR-3662	CLIP-seq
MIRT2651624	hsa-miR-3677-5p	CLIP-seq
MIRT2651625	hsa-miR-3922-3p	CLIP-seq
MIRT2137583	hsa-miR-3924	CLIP-seq
MIRT2651626	hsa-miR-3926	CLIP-seq
MIRT2694293	hsa-miR-4428	CLIP-seq
MIRT2651627	hsa-miR-4464	CLIP-seq
MIRT2694294	hsa-miR-448	CLIP-seq
MIRT2137586	hsa-miR-4487	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2137589	hsa-miR-451b	CLIP-seq
MIRT2137590	hsa-miR-4667-5p	CLIP-seq
MIRT2137591	hsa-miR-4700-5p	CLIP-seq
MIRT2651629	hsa-miR-4748	CLIP-seq
MIRT2137594	hsa-miR-4775	CLIP-seq
MIRT2651630	hsa-miR-4776-3p	CLIP-seq
MIRT2137595	hsa-miR-4796-5p	CLIP-seq
MIRT2694295	hsa-miR-495	CLIP-seq
MIRT2651631	hsa-miR-506	CLIP-seq
MIRT2651632	hsa-miR-548ac	CLIP-seq
MIRT2651633	hsa-miR-548ae	CLIP-seq
MIRT2651634	hsa-miR-548aj	CLIP-seq
MIRT2651635	hsa-miR-548am	CLIP-seq
MIRT2651636	hsa-miR-548an	CLIP-seq
MIRT2651637	hsa-miR-548d-3p	CLIP-seq
MIRT2651638	hsa-miR-548s	CLIP-seq
MIRT2651639	hsa-miR-548x	CLIP-seq
MIRT2651640	hsa-miR-548z	CLIP-seq
MIRT2137596	hsa-miR-556-5p	CLIP-seq
MIRT2137597	hsa-miR-558	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT2694296	hsa-miR-577	CLIP-seq
MIRT2137598	hsa-miR-590-3p	CLIP-seq
MIRT2137599	hsa-miR-604	CLIP-seq
MIRT2137603	hsa-miR-647	CLIP-seq
MIRT2137605	hsa-miR-885-3p	CLIP-seq
MIRT2651642	hsa-miR-939	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
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

MIM	HGNC	e!Ensembl
608756	16791	ENSG00000198860

Q8WW01

Protein name

tRNA-splicing endonuclease subunit Sen15 (SEN15 homolog) (HsSEN15) (tRNA-intron endonuclease Sen15)

Protein function

Non-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 intron. The products are an

PDB

2GW6 , 6Z9U , 7UXA , 7ZRZ , 8HMY , 8HMZ , 8ISS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09631	Sen15	65 → 166	Sen15 protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis and uterus. {ECO:0000269|PubMed:11318611}.

Sequence

MEERGDSEPTPGCSGLGPGGVRGFGDGGGAPSWAPEDAWMGTHPKYLEMMELDIGDATQV
YVAFLVYLDLMESKSWHEVNCVGLPELQLICLVGTEIEGEGLQTVVPTPITASLSHNRIR
EILKASRKLQGDPDLPMSFTLAIVESDSTIVYYKLTDGFMLPDPQNISLRR

Sequence length

171

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 2F	Pathogenic; Likely pathogenic	rs879253779, rs879253780	RCV000234975 RCV000234984	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 2	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TSEN15-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial fibrillation	Pubtator	24944287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27392077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27392077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27392077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	25558065		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	28744006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25558065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27392077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27392077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27392077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37208701	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	27392077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2	Pontoneocerebellar hypoplasia	ORPHANET_DG	27392077		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 2	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 2A	Pontocerebellar hypoplasia	Pubtator	27392077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F	Pontoneocerebellar hypoplasia	UNIPROT_DG	25558065, 27392077		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	25558065, 27392077		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27392077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TSEN15 (tRNA splicing endonuclease subunit 15)