TSEN54 (tRNA splicing endonuclease subunit 54)

Gene

• Entrez ID: 283989
• Gene name: TRNA splicing endonuclease subunit 54
• Gene symbol: TSEN54
• Synonyms (NCBI Gene): PCH2A, PCH4, PCH5, SEN54L, sen54
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypopla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994152	G>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs113994153	C>T	Pathogenic	Coding sequence variant, stop gained
rs113994154	C>T	Pathogenic	Coding sequence variant, stop gained
rs143604970	A>C,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs587784475	G>C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs587784479	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs762142684	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs767505004	->GAGCACCACGCGGAGGCCG	Pathogenic	Frameshift variant, coding sequence variant
rs774157225	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs776960594	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778884343	C>T	Pathogenic	Stop gained, coding sequence variant
rs797046057	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037629	AGAGGAGCCAGCGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037740	T>C	Pathogenic	Splice donor variant
rs1012275384	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517911	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1337062385	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555644470	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1598477502	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022257	hsa-miR-124-3p	Microarray	18668037
MIRT042278	hsa-miR-484	CLASH	23622248
MIRT458058	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT458057	hsa-miR-9500	PAR-CLIP	23592263
MIRT458056	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT458055	hsa-miR-1178-5p	PAR-CLIP	23592263
MIRT458054	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT458053	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT458052	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT458051	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT458050	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT458049	hsa-miR-761	PAR-CLIP	23592263
MIRT458048	hsa-miR-7515	PAR-CLIP	23592263
MIRT458047	hsa-miR-3202	PAR-CLIP	23592263
MIRT458046	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT458045	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT458044	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT458043	hsa-miR-8085	PAR-CLIP	23592263
MIRT458042	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT458041	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT458039	hsa-miR-8073	PAR-CLIP	23592263
MIRT458055	hsa-miR-1178-5p	PAR-CLIP	26701625
MIRT458054	hsa-miR-128-3p	PAR-CLIP	26701625
MIRT458051	hsa-miR-214-3p	PAR-CLIP	26701625
MIRT458053	hsa-miR-216a-3p	PAR-CLIP	26701625
MIRT458042	hsa-miR-27a-3p	PAR-CLIP	26701625
MIRT458041	hsa-miR-27b-3p	PAR-CLIP	26701625
MIRT458047	hsa-miR-3202	PAR-CLIP	26701625
MIRT458050	hsa-miR-3619-5p	PAR-CLIP	26701625
MIRT458052	hsa-miR-3681-3p	PAR-CLIP	26701625
MIRT458046	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT458045	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT458058	hsa-miR-6510-5p	PAR-CLIP	26701625
MIRT458044	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT458056	hsa-miR-6760-5p	PAR-CLIP	26701625
MIRT458048	hsa-miR-7515	PAR-CLIP	26701625
MIRT458049	hsa-miR-761	PAR-CLIP	26701625
MIRT458039	hsa-miR-8073	PAR-CLIP	26701625
MIRT458043	hsa-miR-8085	PAR-CLIP	26701625
MIRT458057	hsa-miR-9500	PAR-CLIP	26701625
MIRT458058	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT458057	hsa-miR-9500	PAR-CLIP	23592263
MIRT458056	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT458055	hsa-miR-1178-5p	PAR-CLIP	23592263
MIRT458054	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT458053	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT458052	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT458051	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT458050	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT458049	hsa-miR-761	PAR-CLIP	23592263
MIRT458048	hsa-miR-7515	PAR-CLIP	23592263
MIRT458047	hsa-miR-3202	PAR-CLIP	23592263
MIRT458046	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT458045	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT458044	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT458043	hsa-miR-8085	PAR-CLIP	23592263
MIRT458042	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT458041	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT458039	hsa-miR-8073	PAR-CLIP	23592263
MIRT1458528	hsa-miR-1200	CLIP-seq
MIRT1458529	hsa-miR-1203	CLIP-seq
MIRT1458530	hsa-miR-125a-5p	CLIP-seq
MIRT1458531	hsa-miR-125b	CLIP-seq
MIRT1458532	hsa-miR-127-5p	CLIP-seq
MIRT1458533	hsa-miR-128	CLIP-seq
MIRT1458534	hsa-miR-1324	CLIP-seq
MIRT1458535	hsa-miR-146a	CLIP-seq
MIRT1458536	hsa-miR-146b-5p	CLIP-seq
MIRT1458537	hsa-miR-1915	CLIP-seq
MIRT1458538	hsa-miR-193a-3p	CLIP-seq
MIRT1458539	hsa-miR-193b	CLIP-seq
MIRT1458540	hsa-miR-214	CLIP-seq
MIRT1458541	hsa-miR-2276	CLIP-seq
MIRT1458542	hsa-miR-27a	CLIP-seq
MIRT1458543	hsa-miR-27b	CLIP-seq
MIRT1458544	hsa-miR-3176	CLIP-seq
MIRT1458545	hsa-miR-3180-5p	CLIP-seq
MIRT1458546	hsa-miR-3714	CLIP-seq
MIRT1458547	hsa-miR-3918	CLIP-seq
MIRT1458548	hsa-miR-3922-3p	CLIP-seq
MIRT1458549	hsa-miR-3922-5p	CLIP-seq
MIRT1458550	hsa-miR-4251	CLIP-seq
MIRT1458551	hsa-miR-4269	CLIP-seq
MIRT1458552	hsa-miR-4319	CLIP-seq
MIRT1458553	hsa-miR-4324	CLIP-seq
MIRT1458554	hsa-miR-4449	CLIP-seq
MIRT1458555	hsa-miR-4463	CLIP-seq
MIRT1458556	hsa-miR-4494	CLIP-seq
MIRT1458557	hsa-miR-4682	CLIP-seq
MIRT1458558	hsa-miR-4685-5p	CLIP-seq
MIRT1458559	hsa-miR-4690-5p	CLIP-seq
MIRT1458560	hsa-miR-4708-3p	CLIP-seq
MIRT1458561	hsa-miR-4732-3p	CLIP-seq
MIRT1458562	hsa-miR-4746-5p	CLIP-seq
MIRT1458563	hsa-miR-4757-5p	CLIP-seq
MIRT1458564	hsa-miR-4773	CLIP-seq
MIRT1458565	hsa-miR-4783-3p	CLIP-seq
MIRT1458566	hsa-miR-520a-5p	CLIP-seq
MIRT1458567	hsa-miR-525-5p	CLIP-seq
MIRT1458568	hsa-miR-544b	CLIP-seq
MIRT1458569	hsa-miR-548v	CLIP-seq
MIRT1458570	hsa-miR-552	CLIP-seq
MIRT1458571	hsa-miR-589	CLIP-seq
MIRT1458572	hsa-miR-670	CLIP-seq
MIRT1458528	hsa-miR-1200	CLIP-seq
MIRT2137617	hsa-miR-1224-3p	CLIP-seq
MIRT2137618	hsa-miR-124	CLIP-seq
MIRT1458532	hsa-miR-127-5p	CLIP-seq
MIRT1458533	hsa-miR-128	CLIP-seq
MIRT1458534	hsa-miR-1324	CLIP-seq
MIRT2137619	hsa-miR-1343	CLIP-seq
MIRT2137620	hsa-miR-1910	CLIP-seq
MIRT2137621	hsa-miR-1913	CLIP-seq
MIRT1458537	hsa-miR-1915	CLIP-seq
MIRT1458538	hsa-miR-193a-3p	CLIP-seq
MIRT1458539	hsa-miR-193b	CLIP-seq
MIRT1458540	hsa-miR-214	CLIP-seq
MIRT1458541	hsa-miR-2276	CLIP-seq
MIRT1458542	hsa-miR-27a	CLIP-seq
MIRT1458543	hsa-miR-27b	CLIP-seq
MIRT1458544	hsa-miR-3176	CLIP-seq
MIRT1458545	hsa-miR-3180-5p	CLIP-seq
MIRT2137622	hsa-miR-3183	CLIP-seq
MIRT2137623	hsa-miR-3189-5p	CLIP-seq
MIRT2137624	hsa-miR-324-3p	CLIP-seq
MIRT2137625	hsa-miR-361-5p	CLIP-seq
MIRT2137626	hsa-miR-3664-5p	CLIP-seq
MIRT1458546	hsa-miR-3714	CLIP-seq
MIRT2137627	hsa-miR-3909	CLIP-seq
MIRT1458547	hsa-miR-3918	CLIP-seq
MIRT1458548	hsa-miR-3922-3p	CLIP-seq
MIRT1458549	hsa-miR-3922-5p	CLIP-seq
MIRT1458551	hsa-miR-4269	CLIP-seq
MIRT1458553	hsa-miR-4324	CLIP-seq
MIRT1458555	hsa-miR-4463	CLIP-seq
MIRT2137628	hsa-miR-4484	CLIP-seq
MIRT1458556	hsa-miR-4494	CLIP-seq
MIRT2137629	hsa-miR-4639-3p	CLIP-seq
MIRT2137630	hsa-miR-4677-3p	CLIP-seq
MIRT2137631	hsa-miR-4679	CLIP-seq
MIRT1458557	hsa-miR-4682	CLIP-seq
MIRT1458558	hsa-miR-4685-5p	CLIP-seq
MIRT1458559	hsa-miR-4690-5p	CLIP-seq
MIRT1458560	hsa-miR-4708-3p	CLIP-seq
MIRT2137632	hsa-miR-4723-3p	CLIP-seq
MIRT2137633	hsa-miR-4727-5p	CLIP-seq
MIRT1458563	hsa-miR-4757-5p	CLIP-seq
MIRT2137634	hsa-miR-4758-3p	CLIP-seq
MIRT2137635	hsa-miR-496	CLIP-seq
MIRT2137636	hsa-miR-506	CLIP-seq
MIRT1458566	hsa-miR-520a-5p	CLIP-seq
MIRT1458567	hsa-miR-525-5p	CLIP-seq
MIRT1458568	hsa-miR-544b	CLIP-seq
MIRT2137637	hsa-miR-548an	CLIP-seq
MIRT2137617	hsa-miR-1224-3p	CLIP-seq
MIRT2137619	hsa-miR-1343	CLIP-seq
MIRT2137621	hsa-miR-1913	CLIP-seq
MIRT2137623	hsa-miR-3189-5p	CLIP-seq
MIRT2137624	hsa-miR-324-3p	CLIP-seq
MIRT2137634	hsa-miR-4758-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000214	Component	TRNA-intron endonuclease complex	IBA
GO:0000379	Process	TRNA-type intron splice site recognition and cleavage	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
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	IDA	17495927
GO:0006397	Process	MRNA processing	IEA
GO:0008033	Process	TRNA processing	IEA

Other IDs

• MIM: 608755
• HGNC: 27561
• e!Ensembl: ENSG00000182173

Protein

• UniProt ID: Q7Z6J9
• Protein name: tRNA-splicing endonuclease subunit Sen54 (SEN54 homolog) (HsSEN54) (tRNA-intron endonuclease Sen54)
• 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: 7UXA, 7ZRZ, 8HMY, 8HMZ, 8ISS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12928	tRNA_int_end_N2	63 → 130	tRNA-splicing endonuclease subunit sen54 N-term	Domain

• Sequence:

  MEPEPEPAAVEVPAGRVLSARELFAARSRSQKLPQRSHGPKDFLPDGSAAQAERLRRCRE
  ELWQLLAEQRVERLGSLVAAEWRPEEGFVELKSPAGKFWQTMGFSEQGRQRLHPEEALYL
  LECGSIHLFHQDLPLSIQEAYQLLLTDHTVTFLQYQVFSHLKRLGYVVRRFQPSSVLSPY
  ERQLNLDASVQHLEDGDGKRKRSSSSPRSINKKAKALDNSLQPKSLAASSPPPCSQPSQC
  PEEKPQESSPMKGPGGPFQLLGSLGPSPGPAREGVGCSWESGRAENGVTGAGKRRWNFEQ
  ISFPNMASDSRHTLLRAPAPELLPANVAGRETDAESWCQKLNQRKEKLSRREREHHAEAA
  QFQEDVNADPEVQRCSSWREYKELLQRRQVQRSQRRAPHLWGQPVTPLLSPGQASSPAVV
  LQHISVLQTTHLPDGGARLLEKSGGLEIIFDVYQADAVATFRKNNPGKPYARMCISGFDE
  PVPDLCSLKRLSYQSGDVPLIFALVDHGDISFYSFRDFTLPQDVGH

• Sequence length: 526

Pathways

Reactome:

tRNA processing in the nucleus

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Pathogenic	rs2147013931	RCV001814507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amblyopia	Pathogenic	rs113994152	RCV000627018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs113994152	RCV005887203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Pathogenic	rs113994152	RCV000415005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs113994152	RCV000414963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Huppke-Brendel syndrome	Pathogenic	rs113994152	RCV006258909	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertonia	Pathogenic	rs113994152	RCV000627018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs113994152	RCV001255369	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs113994152	RCV005887206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic aciduria and homocystinuria type cblD	Pathogenic	rs113994152, rs1266242324	RCV003153294 RCV003154618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs113994152	RCV000414963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Olivopontocerebellar hypoplasia	Pathogenic; Likely pathogenic	rs587784478, rs587784479, rs587784475, rs587784476, rs587784477, rs113994152	RCV000147778 RCV000147787 RCV000147769 RCV000147773 RCV000147776 RCV000147790	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 2	Pathogenic	rs113994152	RCV001824557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar hypoplasia type 2A	Likely pathogenic; Pathogenic	rs2147013169, rs113994152, rs797046057, rs797046054, rs797046055, rs766586470, rs2053430432, rs762142684, rs1016467909, rs199962683, rs774157225, rs1012275384, rs143604970, rs1598480419	RCV005016941 RCV000002201 RCV000193834 RCV000193727 RCV000194772 RCV005021770 RCV005021817 RCV002487169 RCV005014857 RCV005014865 RCV000585886 RCV000680133 RCV002493386 RCV000790621	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 4	Likely pathogenic; Pathogenic	rs2147013169, rs2147006296, rs2147005856, rs2546156895, rs113994152, rs113994153, rs113994154, rs766586470, rs2053430432, rs1266242324, rs762142684, rs1016467909, rs199962683, rs886037629, rs1012275384, rs143604970	RCV005016941 RCV002249193 RCV002246794 RCV002283969 RCV000157630 RCV000002204 RCV000002205 RCV005021770 RCV005021817 RCV003154618 RCV002487169 RCV005014857 RCV005014865 RCV000023730 RCV000680133 RCV002493386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 5	Likely pathogenic; Pathogenic	rs2147013169, rs113994152, rs113994153, rs886037740, rs766586470, rs2053430432, rs1266242324, rs762142684, rs1016467909, rs199962683, rs143604970, rs2053437943	RCV005016941 RCV000157631 RCV001197352 RCV000157632 RCV005021770 RCV005021817 RCV003154618 RCV002487169 RCV005014857 RCV005014865 RCV002493386 RCV001196549	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontoneocerebellar hypoplasia	Likely pathogenic; Pathogenic	rs2147019791, rs587784476, rs113994152, rs766586470, rs2546156325, rs774157225	RCV001797964 RCV001193387 RCV001193388 RCV003226573 RCV003988525 RCV003117356	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Pathogenic	rs113994152	RCV005887204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs113994152	RCV005887205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TSEN54 Pontocerebellar Hypoplasia	Pathogenic	rs113994152	RCV003335010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TSEN54-related disorder	Pathogenic	rs113994152	RCV004755700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs113994152	RCV005887207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGLUTITION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 4	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 5	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	24938831		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	26701950	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37059591	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	26701950	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	31493945		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	20952379, 21368912		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	20956791, 21273289, 21368912, 21383226, 23562994, 28823707, 31493945, 31584937		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CTD_human_DG	18711368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	20952379, 24886362		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	20952379	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	20952379		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	24886362	Associate	★☆☆☆☆ Found in Text Mining only
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
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing Loss Sensorineural	Hearing loss	Pubtator	32697043	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32697043	Associate	★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	CTD_human_DG	18711368		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	18711368		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Leukodystrophy	BEFREE	31584937		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21246566		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	18711368		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	18711368		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	26701950	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
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
Neoplasms	Neoplasms	BEFREE	20809206		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar hypoplasia, fetal-onset	Olivopontocerebellar hypoplasia, fetal-onset	GENOMICS_ENGLAND_DG	18711368, 20952379, 21368912		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar hypoplasia, fetal-onset	Olivopontocerebellar hypoplasia, fetal-onset	BEFREE	21368912		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar hypoplasia, fetal-onset	Olivopontocerebellar hypoplasia, fetal-onset	ORPHANET_DG	21368912		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar hypoplasia, fetal-onset	Olivopontocerebellar hypoplasia, fetal-onset	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	CTD_human_DG	18711368		★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	20952379, 21368912, 22452838, 32697043, 37059591	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	ORPHANET_DG	21468723		★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 1	Pontoneocerebellar hypoplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 2	Pontoneocerebellar hypoplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar Hypoplasia Type 2	Pontoneocerebellar hypoplasia	BEFREE	20803644, 20956791, 23307886		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar Hypoplasia Type 2	Pontocerebellar hypoplasia	Pubtator	20803644, 22452838, 24886362, 26701950, 27430971	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar Hypoplasia Type 2A	Pontoneocerebellar hypoplasia	UNIPROT_DG	18711368, 23307886		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 2A	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	18711368, 20952379, 21368912		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 2A	Pontoneocerebellar hypoplasia	CLINVAR_DG	18711368, 20803644, 21368912, 23177318, 23307886, 24886362, 27570394, 29410950		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 2A	Pontoneocerebellar hypoplasia	BEFREE	20956791		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 2A	Pontocerebellar hypoplasia	Pubtator	26701950	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 2A	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 4	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)	Amyloidosis	CLINVAR_DG	18711368, 23177318, 24886362		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)	Amyloidosis	UNIPROT_DG	18711368, 21824568		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)	Amyloidosis	GENOMICS_ENGLAND_DG	18711368, 20952379, 21368912		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)	Amyloidosis	BEFREE	21824568		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)	Amyloidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)	Amyloidosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	20956791, 21273289, 21368912, 21383226, 23562994, 28823707, 31493945, 31584937		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Profound Mental Retardation	Mental retardation	CTD_human_DG	18711368		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26423011	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26701950	Associate	★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	18711368		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34413861	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disability	Vision Disability	CTD_human_DG	18711368		★☆☆☆☆ Found in Text Mining only