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	51095
Gene name	TRNA nucleotidyl transferase 1
Gene symbol	TRNT1
Synonyms (NCBI Gene)	CCA1CGI-47MtCCARPEMSIFD
Chromosome	3
Chromosome location	3p26.2
Summary	The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3` terminus of tR

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370011798	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs606231287	G>C,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs606231289	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs606231290	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs761516140	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs769317780	TTAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs776199133	CGGAACA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs876661297	AAG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs876661299	T>C	Pathogenic	Genic downstream transcript variant, intron variant
rs1553554007	C>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1575066836	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant

195

Show/Hide all (195)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032454	hsa-let-7b-5p	Proteomics	18668040
MIRT447873	hsa-miR-3168	PAR-CLIP	22100165
MIRT447872	hsa-miR-148b-5p	PAR-CLIP	22100165
MIRT447871	hsa-miR-6874-3p	PAR-CLIP	22100165
MIRT447870	hsa-miR-5584-3p	PAR-CLIP	22100165
MIRT447869	hsa-miR-4635	PAR-CLIP	22100165
MIRT447868	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447867	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447873	hsa-miR-3168	PAR-CLIP	22100165
MIRT447872	hsa-miR-148b-5p	PAR-CLIP	22100165
MIRT447871	hsa-miR-6874-3p	PAR-CLIP	22100165
MIRT447870	hsa-miR-5584-3p	PAR-CLIP	22100165
MIRT447869	hsa-miR-4635	PAR-CLIP	22100165
MIRT447868	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447867	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447873	hsa-miR-3168	PAR-CLIP	22100165
MIRT447872	hsa-miR-148b-5p	PAR-CLIP	22100165
MIRT447871	hsa-miR-6874-3p	PAR-CLIP	22100165
MIRT447870	hsa-miR-5584-3p	PAR-CLIP	22100165
MIRT447869	hsa-miR-4635	PAR-CLIP	22100165
MIRT447868	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447867	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447873	hsa-miR-3168	PAR-CLIP	22100165
MIRT447872	hsa-miR-148b-5p	PAR-CLIP	22100165
MIRT447871	hsa-miR-6874-3p	PAR-CLIP	22100165
MIRT447870	hsa-miR-5584-3p	PAR-CLIP	22100165
MIRT447869	hsa-miR-4635	PAR-CLIP	22100165
MIRT447868	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447867	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT1457078	hsa-miR-10a	CLIP-seq
MIRT1457079	hsa-miR-10b	CLIP-seq
MIRT1457080	hsa-miR-1202	CLIP-seq
MIRT1457081	hsa-miR-1278	CLIP-seq
MIRT1457082	hsa-miR-1321	CLIP-seq
MIRT1457083	hsa-miR-140-3p	CLIP-seq
MIRT1457084	hsa-miR-186	CLIP-seq
MIRT1457085	hsa-miR-2053	CLIP-seq
MIRT1457086	hsa-miR-2355-5p	CLIP-seq
MIRT1457087	hsa-miR-23a	CLIP-seq
MIRT1457088	hsa-miR-23b	CLIP-seq
MIRT1457089	hsa-miR-23c	CLIP-seq
MIRT1457090	hsa-miR-3133	CLIP-seq
MIRT1457091	hsa-miR-3140-3p	CLIP-seq
MIRT1457092	hsa-miR-3155	CLIP-seq
MIRT1457093	hsa-miR-3155b	CLIP-seq
MIRT1457094	hsa-miR-3175	CLIP-seq
MIRT1457095	hsa-miR-3194-3p	CLIP-seq
MIRT1457096	hsa-miR-3194-5p	CLIP-seq
MIRT1457097	hsa-miR-323b-3p	CLIP-seq
MIRT1457098	hsa-miR-376a	CLIP-seq
MIRT1457099	hsa-miR-376b	CLIP-seq
MIRT1457100	hsa-miR-3972	CLIP-seq
MIRT1457101	hsa-miR-4275	CLIP-seq
MIRT1457102	hsa-miR-4289	CLIP-seq
MIRT1457103	hsa-miR-4293	CLIP-seq
MIRT1457104	hsa-miR-4328	CLIP-seq
MIRT1457105	hsa-miR-4419a	CLIP-seq
MIRT1457106	hsa-miR-4474-5p	CLIP-seq
MIRT1457107	hsa-miR-4504	CLIP-seq
MIRT1457108	hsa-miR-4510	CLIP-seq
MIRT1457109	hsa-miR-4511	CLIP-seq
MIRT1457110	hsa-miR-4662a-3p	CLIP-seq
MIRT1457111	hsa-miR-4728-5p	CLIP-seq
MIRT1457112	hsa-miR-4739	CLIP-seq
MIRT1457113	hsa-miR-4756-5p	CLIP-seq
MIRT1457114	hsa-miR-4773	CLIP-seq
MIRT1457115	hsa-miR-484	CLIP-seq
MIRT1457116	hsa-miR-486-5p	CLIP-seq
MIRT1457117	hsa-miR-491-3p	CLIP-seq
MIRT1457118	hsa-miR-542-3p	CLIP-seq
MIRT1457119	hsa-miR-548ag	CLIP-seq
MIRT1457120	hsa-miR-548ai	CLIP-seq
MIRT1457121	hsa-miR-548b-3p	CLIP-seq
MIRT1457122	hsa-miR-616	CLIP-seq
MIRT1457123	hsa-miR-642b	CLIP-seq
MIRT1457124	hsa-miR-758	CLIP-seq
MIRT1457125	hsa-miR-760	CLIP-seq
MIRT1457126	hsa-miR-890	CLIP-seq
MIRT1457127	hsa-miR-944	CLIP-seq
MIRT1457078	hsa-miR-10a	CLIP-seq
MIRT1457079	hsa-miR-10b	CLIP-seq
MIRT1457085	hsa-miR-2053	CLIP-seq
MIRT1457097	hsa-miR-323b-3p	CLIP-seq
MIRT2137064	hsa-miR-3689a-5p	CLIP-seq
MIRT2137065	hsa-miR-3689b	CLIP-seq
MIRT2137066	hsa-miR-3689e	CLIP-seq
MIRT2137067	hsa-miR-3689f	CLIP-seq
MIRT1457098	hsa-miR-376a	CLIP-seq
MIRT1457099	hsa-miR-376b	CLIP-seq
MIRT2137068	hsa-miR-4276	CLIP-seq
MIRT1457102	hsa-miR-4289	CLIP-seq
MIRT2137069	hsa-miR-4453	CLIP-seq
MIRT2137070	hsa-miR-4477a	CLIP-seq
MIRT2137071	hsa-miR-4538	CLIP-seq
MIRT1457114	hsa-miR-4773	CLIP-seq
MIRT1457116	hsa-miR-486-5p	CLIP-seq
MIRT2137072	hsa-miR-495	CLIP-seq
MIRT2137073	hsa-miR-518a-5p	CLIP-seq
MIRT2137074	hsa-miR-527	CLIP-seq
MIRT1457119	hsa-miR-548ag	CLIP-seq
MIRT1457120	hsa-miR-548ai	CLIP-seq
MIRT1457122	hsa-miR-616	CLIP-seq
MIRT1457123	hsa-miR-642b	CLIP-seq
MIRT1457078	hsa-miR-10a	CLIP-seq
MIRT1457079	hsa-miR-10b	CLIP-seq
MIRT1457080	hsa-miR-1202	CLIP-seq
MIRT1457083	hsa-miR-140-3p	CLIP-seq
MIRT1457085	hsa-miR-2053	CLIP-seq
MIRT1457086	hsa-miR-2355-5p	CLIP-seq
MIRT1457090	hsa-miR-3133	CLIP-seq
MIRT1457092	hsa-miR-3155	CLIP-seq
MIRT1457093	hsa-miR-3155b	CLIP-seq
MIRT1457096	hsa-miR-3194-5p	CLIP-seq
MIRT1457097	hsa-miR-323b-3p	CLIP-seq
MIRT2357789	hsa-miR-3667-5p	CLIP-seq
MIRT2357790	hsa-miR-374c	CLIP-seq
MIRT1457098	hsa-miR-376a	CLIP-seq
MIRT1457099	hsa-miR-376b	CLIP-seq
MIRT1457100	hsa-miR-3972	CLIP-seq
MIRT2357791	hsa-miR-4273	CLIP-seq
MIRT1457102	hsa-miR-4289	CLIP-seq
MIRT2357792	hsa-miR-4643	CLIP-seq
MIRT2357793	hsa-miR-466	CLIP-seq
MIRT2357794	hsa-miR-4677-5p	CLIP-seq
MIRT2357795	hsa-miR-4719	CLIP-seq
MIRT2357796	hsa-miR-4738-3p	CLIP-seq
MIRT2357797	hsa-miR-4789-3p	CLIP-seq
MIRT1457115	hsa-miR-484	CLIP-seq
MIRT1457116	hsa-miR-486-5p	CLIP-seq
MIRT2137072	hsa-miR-495	CLIP-seq
MIRT2357798	hsa-miR-513b	CLIP-seq
MIRT2137073	hsa-miR-518a-5p	CLIP-seq
MIRT2137074	hsa-miR-527	CLIP-seq
MIRT1457119	hsa-miR-548ag	CLIP-seq
MIRT1457120	hsa-miR-548ai	CLIP-seq
MIRT1457122	hsa-miR-616	CLIP-seq
MIRT2357799	hsa-miR-617	CLIP-seq
MIRT1457123	hsa-miR-642b	CLIP-seq
MIRT2357800	hsa-miR-655	CLIP-seq
MIRT1457078	hsa-miR-10a	CLIP-seq
MIRT1457079	hsa-miR-10b	CLIP-seq
MIRT1457085	hsa-miR-2053	CLIP-seq
MIRT1457098	hsa-miR-376a	CLIP-seq
MIRT1457099	hsa-miR-376b	CLIP-seq
MIRT1457102	hsa-miR-4289	CLIP-seq
MIRT1457119	hsa-miR-548ag	CLIP-seq
MIRT1457120	hsa-miR-548ai	CLIP-seq
MIRT1457122	hsa-miR-616	CLIP-seq
MIRT1457123	hsa-miR-642b	CLIP-seq
MIRT1457078	hsa-miR-10a	CLIP-seq
MIRT1457079	hsa-miR-10b	CLIP-seq
MIRT1457081	hsa-miR-1278	CLIP-seq
MIRT1457085	hsa-miR-2053	CLIP-seq
MIRT1457090	hsa-miR-3133	CLIP-seq
MIRT2651382	hsa-miR-3156-5p	CLIP-seq
MIRT2651383	hsa-miR-3658	CLIP-seq
MIRT2137064	hsa-miR-3689a-5p	CLIP-seq
MIRT2137065	hsa-miR-3689b	CLIP-seq
MIRT2137066	hsa-miR-3689e	CLIP-seq
MIRT2137067	hsa-miR-3689f	CLIP-seq
MIRT1457098	hsa-miR-376a	CLIP-seq
MIRT1457099	hsa-miR-376b	CLIP-seq
MIRT2137068	hsa-miR-4276	CLIP-seq
MIRT1457102	hsa-miR-4289	CLIP-seq
MIRT1457109	hsa-miR-4511	CLIP-seq
MIRT2651384	hsa-miR-4659a-3p	CLIP-seq
MIRT2651385	hsa-miR-4659b-3p	CLIP-seq
MIRT2357796	hsa-miR-4738-3p	CLIP-seq
MIRT2137072	hsa-miR-495	CLIP-seq
MIRT2137073	hsa-miR-518a-5p	CLIP-seq
MIRT2137074	hsa-miR-527	CLIP-seq
MIRT1457119	hsa-miR-548ag	CLIP-seq
MIRT1457120	hsa-miR-548ai	CLIP-seq
MIRT1457122	hsa-miR-616	CLIP-seq
MIRT1457123	hsa-miR-642b	CLIP-seq
MIRT2651386	hsa-miR-935	CLIP-seq
MIRT1457078	hsa-miR-10a	CLIP-seq
MIRT1457079	hsa-miR-10b	CLIP-seq
MIRT1457085	hsa-miR-2053	CLIP-seq
MIRT1457090	hsa-miR-3133	CLIP-seq
MIRT1457098	hsa-miR-376a	CLIP-seq
MIRT1457099	hsa-miR-376b	CLIP-seq
MIRT2137068	hsa-miR-4276	CLIP-seq
MIRT1457102	hsa-miR-4289	CLIP-seq
MIRT1457109	hsa-miR-4511	CLIP-seq
MIRT2651384	hsa-miR-4659a-3p	CLIP-seq
MIRT2651385	hsa-miR-4659b-3p	CLIP-seq
MIRT2357796	hsa-miR-4738-3p	CLIP-seq
MIRT2137072	hsa-miR-495	CLIP-seq
MIRT2137073	hsa-miR-518a-5p	CLIP-seq
MIRT2137074	hsa-miR-527	CLIP-seq
MIRT1457119	hsa-miR-548ag	CLIP-seq
MIRT1457120	hsa-miR-548ai	CLIP-seq
MIRT1457122	hsa-miR-616	CLIP-seq
MIRT1457123	hsa-miR-642b	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0000049	Function	TRNA binding	IDA	11504732
GO:0000166	Function	Nucleotide binding	IEA
GO:0001680	Process	TRNA 3'-terminal CCA addition	IBA
GO:0001680	Process	TRNA 3'-terminal CCA addition	IDA	25193871, 25652405, 29454993, 30959222, 31011209, 32075755, 34023389
GO:0001680	Process	TRNA 3'-terminal CCA addition	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004810	Function	CCA tRNA nucleotidyltransferase activity	IDA	11504732, 25652405, 29454993, 30959222, 31011209, 32075755, 34023389
GO:0004810	Function	CCA tRNA nucleotidyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	11504732
GO:0005634	Component	Nucleus	IDA	27317422
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	27317422
GO:0005739	Component	Mitochondrion	IDA	11504732
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	27317422
GO:0006396	Process	RNA processing	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0034062	Function	5'-3' RNA polymerase activity	TAS
GO:0042780	Process	TRNA 3'-end processing	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	30959222
GO:0046872	Function	Metal ion binding	IEA
GO:0072344	Process	Rescue of stalled ribosome	IDA	32075755
GO:0106354	Process	TRNA surveillance	IDA	22076379, 25640237
GO:0160016	Function	CCACCA tRNA nucleotidyltransferase activity	IDA	22076379, 25640237
GO:0160016	Function	CCACCA tRNA nucleotidyltransferase activity	IEA
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IBA
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IDA	11504732
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	TAS

MIM	HGNC	e!Ensembl
612907	17341	ENSG00000072756

Q96Q11

Protein name

CCA tRNA nucleotidyltransferase 1, mitochondrial (EC 2.7.7.72) (Mitochondrial tRNA nucleotidyl transferase, CCA-adding) (mt CCA-adding enzyme) (mt tRNA CCA-diphosphorylase) (mt tRNA CCA-pyrophosphorylase) (mt tRNA adenylyltransferase)

Protein function

Nucleotidyltransferase that catalyzes the addition and repair of the essential 3'-terminal CCA sequence in tRNAs, which is necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates (PubMed:

PDB

1OU5 , 4X4W , 8CBM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01743	PolyA_pol	59 → 182	Poly A polymerase head domain	Domain
PF12627	PolyA_pol_RNAbd	215 → 272	Probable RNA and SrmB- binding site of polymerase A	Domain

Sequence

MLRCLYHWHRPVLNRRWSRLCLPKQYLFTMKLQSPEFQSLFTEGLKSLTELFVKENHELR
IAGGAVRDLLNGVKPQDIDFATTATPTQMKEMFQSAGIRMINNRGEKHGTITARLHEENF
EITTLRIDVTTDGRHAEVEFTTDWQKDAERRDLTINSMFLGFDGTLFDYFNGYEDLKNKK
VRFVGHAKQRIQEDYLRILRYFRFYGRIVDKPGDHDPETLEAIAENAKGLAGISGERIWV
ELKKILVGNHVNHLIHLIYDLDVAPYIGLPANASLEEFDKVSKNVDGFSPKPVTLLASLF
KVQDDVTKLDLRLKIAKEEKNLGLFIVKNRKDLIKATDSSDPLKPYQDFIIDSREPDATT
RVCELLKYQGEHCLLKEMQQWSIPPFPVSGHDIRKVGISSGKEIGALLQQLREQWKKSGY
QMEKDELLSYIKKT

Sequence length

434

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus tRNA processing in the mitochondrion

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Likely pathogenic	rs750995691	RCV005908951	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Pathogenic; Likely pathogenic	rs763685455, rs1415152805, rs746154279, rs1297648080, rs1410048027, rs2126034894, rs2126036713, rs2126038227, rs754883449, rs370699359, rs770760147, rs2126038249, rs529290186, rs1249830698, rs1259648157 View all (47 more)	RCV001380232 RCV001380482 RCV001390601 RCV001388130 RCV001382772 View all (61 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 57	Likely pathogenic; Pathogenic	rs372367989	RCV005860335	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs763685455, rs754883449, rs772722561, rs876661298, rs769317780	RCV004815508 RCV004815632 RCV004816809 RCV004816375 RCV003889906	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa and erythrocytic microcytosis	Likely pathogenic; Pathogenic	rs754883449, rs370699359, rs876661298, rs876661299, rs772805677, rs199931785	RCV002279738 RCV002478158 RCV000223667 RCV000223673 RCV000223676 RCV002480658 RCV001249658 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRNT1-related disorder	Likely pathogenic; Pathogenic	rs746154279, rs754883449, rs370011798, rs876661298, rs1421591155, rs769317780	RCV003331147 RCV004552018 RCV004551271 RCV003226259 RCV004552705 RCV004551590 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

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.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SIDEROBLASTIC ANEMIA, B-CELL IMMUNODEFICIENCY, PERIODIC FEVER, DEVELOPMENTAL DELAY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	25652405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	26494905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	31338833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	25193871, 25652405, 27317422, 33936027, 36729249, 37239403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Neonatal	Anemia	BEFREE	29055896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	25652405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31512554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29055896, 30758723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27389523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Congenital, Cerulean Type, 2	Cataract	BEFREE	31233886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22276153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	33859323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25652405, 27317422, 29055896, 37239403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	25652405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25193871, 26494905, 27317422, 29055896, 29454993, 31338833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25652405, 33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	31619706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33936027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31338833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	31338833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	31338833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27370603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27370603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31619706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	31338833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	27389523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26494905, 27370603, 28390992, 29055896, 30758723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27370603, 28390992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS	Retinitis Pigmentosa And Erythrocytic Microcytosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS	Retinitis Pigmentosa And Erythrocytic Microcytosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS	Retinitis Pigmentosa And Erythrocytic Microcytosis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures	Seizures	Pubtator	25652405, 33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	26494905, 29055896, 30758723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	31338833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	31338833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TRNT1 (tRNA nucleotidyl transferase 1)