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	9319
Gene name	Thyroid hormone receptor interactor 13
Gene symbol	TRIP13
Synonyms (NCBI Gene)	16E1BPMVA3OOMD9OZEMA9
Chromosome	5
Chromosome location	5p15.33
Summary	This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in e

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs376882637	C>A,G,T	Pathogenic	Stop gained, missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1131692330	G>C	Pathogenic	Splice acceptor variant

203

Show/Hide all (203)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001491	hsa-miR-155-5p	pSILAC	18668040
MIRT016349	hsa-miR-193b-3p	Microarray	20304954
MIRT001491	hsa-miR-155-5p	Proteomics	18668040
MIRT001491	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT024619	hsa-miR-215-5p	Microarray	19074876
MIRT026520	hsa-miR-192-5p	Microarray	19074876
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT167439	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448175	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT448174	hsa-miR-4635	PAR-CLIP	22100165
MIRT167432	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT001491	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT001491	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT167439	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448175	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT448174	hsa-miR-4635	PAR-CLIP	22100165
MIRT167432	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT756187	hsa-miR-139-3p	Luciferase reporter assayWestern blottingqRT-PCR	38067275
MIRT756327	hsa-miR-30c-1-3p	Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)Immunohistochemistry (IHC)	37627217
MIRT756328	hsa-miR-30c-2-3p	Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)Immunohistochemistry (IHC)	37627217
MIRT1456581	hsa-miR-190	CLIP-seq
MIRT1456582	hsa-miR-190b	CLIP-seq
MIRT1456583	hsa-miR-2115	CLIP-seq
MIRT1456584	hsa-miR-302f	CLIP-seq
MIRT1456585	hsa-miR-3176	CLIP-seq
MIRT1456586	hsa-miR-3647-3p	CLIP-seq
MIRT1456587	hsa-miR-3689a-5p	CLIP-seq
MIRT1456588	hsa-miR-3689b	CLIP-seq
MIRT1456589	hsa-miR-3689e	CLIP-seq
MIRT1456590	hsa-miR-3689f	CLIP-seq
MIRT1456591	hsa-miR-3922-3p	CLIP-seq
MIRT1456592	hsa-miR-3934	CLIP-seq
MIRT1456593	hsa-miR-4491	CLIP-seq
MIRT1456594	hsa-miR-4657	CLIP-seq
MIRT1456595	hsa-miR-4668-5p	CLIP-seq
MIRT1456596	hsa-miR-4728-3p	CLIP-seq
MIRT1456597	hsa-miR-5095	CLIP-seq
MIRT1456598	hsa-miR-516a-3p	CLIP-seq
MIRT1456599	hsa-miR-552	CLIP-seq
MIRT1456600	hsa-miR-758	CLIP-seq
MIRT1456601	hsa-miR-137	CLIP-seq
MIRT1456602	hsa-miR-147	CLIP-seq
MIRT1456603	hsa-miR-1537	CLIP-seq
MIRT1456604	hsa-miR-1909	CLIP-seq
MIRT1456605	hsa-miR-192	CLIP-seq
MIRT1456606	hsa-miR-215	CLIP-seq
MIRT1456607	hsa-miR-25	CLIP-seq
MIRT1456608	hsa-miR-298	CLIP-seq
MIRT1456609	hsa-miR-3119	CLIP-seq
MIRT1456610	hsa-miR-3154	CLIP-seq
MIRT1456611	hsa-miR-3192	CLIP-seq
MIRT1456612	hsa-miR-32	CLIP-seq
MIRT1456613	hsa-miR-363	CLIP-seq
MIRT1456614	hsa-miR-3668	CLIP-seq
MIRT1456615	hsa-miR-367	CLIP-seq
MIRT1456616	hsa-miR-3678-3p	CLIP-seq
MIRT1456587	hsa-miR-3689a-5p	CLIP-seq
MIRT1456588	hsa-miR-3689b	CLIP-seq
MIRT1456589	hsa-miR-3689e	CLIP-seq
MIRT1456590	hsa-miR-3689f	CLIP-seq
MIRT1456617	hsa-miR-3908	CLIP-seq
MIRT1456618	hsa-miR-3911	CLIP-seq
MIRT1456619	hsa-miR-3938	CLIP-seq
MIRT1456620	hsa-miR-4292	CLIP-seq
MIRT1456621	hsa-miR-4308	CLIP-seq
MIRT1456622	hsa-miR-4311	CLIP-seq
MIRT1456623	hsa-miR-4655-5p	CLIP-seq
MIRT1456624	hsa-miR-4786-5p	CLIP-seq
MIRT1456625	hsa-miR-494	CLIP-seq
MIRT1456626	hsa-miR-624	CLIP-seq
MIRT1456627	hsa-miR-644	CLIP-seq
MIRT1456628	hsa-miR-659	CLIP-seq
MIRT1456629	hsa-miR-670	CLIP-seq
MIRT1456630	hsa-miR-92a	CLIP-seq
MIRT1456631	hsa-miR-92b	CLIP-seq
MIRT2136854	hsa-miR-495	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT1456601	hsa-miR-137	CLIP-seq
MIRT1456603	hsa-miR-1537	CLIP-seq
MIRT1456604	hsa-miR-1909	CLIP-seq
MIRT2357625	hsa-miR-198	CLIP-seq
MIRT1456607	hsa-miR-25	CLIP-seq
MIRT2357626	hsa-miR-2964a-5p	CLIP-seq
MIRT2357627	hsa-miR-3064-3p	CLIP-seq
MIRT2357628	hsa-miR-3074-3p	CLIP-seq
MIRT2357629	hsa-miR-3074-5p	CLIP-seq
MIRT1456609	hsa-miR-3119	CLIP-seq
MIRT2357630	hsa-miR-3130-3p	CLIP-seq
MIRT2357631	hsa-miR-3160-3p	CLIP-seq
MIRT1456611	hsa-miR-3192	CLIP-seq
MIRT1456612	hsa-miR-32	CLIP-seq
MIRT2357632	hsa-miR-338-3p	CLIP-seq
MIRT2357633	hsa-miR-361-5p	CLIP-seq
MIRT1456613	hsa-miR-363	CLIP-seq
MIRT2357634	hsa-miR-3649	CLIP-seq
MIRT1456615	hsa-miR-367	CLIP-seq
MIRT1456587	hsa-miR-3689a-5p	CLIP-seq
MIRT1456588	hsa-miR-3689b	CLIP-seq
MIRT1456589	hsa-miR-3689e	CLIP-seq
MIRT1456590	hsa-miR-3689f	CLIP-seq
MIRT1456617	hsa-miR-3908	CLIP-seq
MIRT1456619	hsa-miR-3938	CLIP-seq
MIRT2357635	hsa-miR-4254	CLIP-seq
MIRT2357636	hsa-miR-4264	CLIP-seq
MIRT1456620	hsa-miR-4292	CLIP-seq
MIRT1456621	hsa-miR-4308	CLIP-seq
MIRT2357637	hsa-miR-4325	CLIP-seq
MIRT2357638	hsa-miR-4446-5p	CLIP-seq
MIRT2357639	hsa-miR-450b-5p	CLIP-seq
MIRT2357640	hsa-miR-4530	CLIP-seq
MIRT1456623	hsa-miR-4655-5p	CLIP-seq
MIRT2357641	hsa-miR-4715-3p	CLIP-seq
MIRT2357642	hsa-miR-4755-5p	CLIP-seq
MIRT2357643	hsa-miR-4793-3p	CLIP-seq
MIRT2357644	hsa-miR-4797-3p	CLIP-seq
MIRT1456625	hsa-miR-494	CLIP-seq
MIRT2357645	hsa-miR-507	CLIP-seq
MIRT2357646	hsa-miR-557	CLIP-seq
MIRT2357647	hsa-miR-570	CLIP-seq
MIRT2357648	hsa-miR-619	CLIP-seq
MIRT1456628	hsa-miR-659	CLIP-seq
MIRT1456629	hsa-miR-670	CLIP-seq
MIRT2357649	hsa-miR-759	CLIP-seq
MIRT1456630	hsa-miR-92a	CLIP-seq
MIRT1456631	hsa-miR-92b	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462382	hsa-miR-4258	CLIP-seq
MIRT2462383	hsa-miR-4707-3p	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462382	hsa-miR-4258	CLIP-seq
MIRT2462383	hsa-miR-4707-3p	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462382	hsa-miR-4258	CLIP-seq
MIRT2462383	hsa-miR-4707-3p	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2694207	hsa-miR-5096	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001556	Process	Oocyte maturation	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003712	Function	Transcription coregulator activity	TAS	7776974
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 19060904, 21516116, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	9223484
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	TAS	7776974
GO:0005694	Component	Chromosome	IBA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	ISS
GO:0006366	Process	Transcription by RNA polymerase II	TAS	7776974
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	28553959
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007130	Process	Synaptonemal complex assembly	ISS
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007131	Process	Reciprocal meiotic recombination	ISS
GO:0007141	Process	Male meiosis I	IEA
GO:0007144	Process	Female meiosis I	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007286	Process	Spermatid development	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 25416956, 32296183
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051598	Process	Meiotic recombination checkpoint signaling	IBA

MIM	HGNC	e!Ensembl
604507	12307	ENSG00000071539

Q15645

Protein name

Pachytene checkpoint protein 2 homolog (Human papillomavirus type 16 E1 protein-binding protein) (16E1-BP) (HPV16 E1 protein-binding protein) (Thyroid hormone receptor interactor 13) (Thyroid receptor-interacting protein 13) (TR-interacting protein 13) (T

Protein function

Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis

PDB

5VQ9 , 5VQA , 5WC2 , 6F0X , 6LK0 , 7L9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	175 → 321	ATPase family associated with various cellular activities (AAA)	Domain

Sequence

MDEAVGDLKQALPCVAESPTVHVEVHQRGSSTAKKEDINLSVRKLLNRHNIVFGDYTWTE
FDEPFLTRNVQSVSIIDTELKVKDSQPIDLSACTVALHIFQLNEDGPSSENLEEETENII
AANHWVLPAAEFHGLWDSLVYDVEVKSHLLDYVMTTLLFSDKNVNSNLITWNRVVLLHGP
PGTGKTSLCKALAQKLTIRLSSRYRYGQLIEINSHSLFSKWFSESGKLVTKMFQKIQDLI
DDKDALVFVLIDEVESLTAARNACRAGTEPSDAIRVVNAVLTQIDQIKRHSNVVILTTSN
ITEKIDVAFVDRADIKQYIGPPSAAAIFKIYLSCLEELMKCQIIYPRQQLLTLRELEMIG
FIENNVSKLSLLLNDISRKSEGLSGRVLRKLPFLAHALYVQAPTVTIEGFLQALSLAVDK
QFEERKKLAAYI

Sequence length

432

Interactions

View interactions

	KEGG
	Cell cycle

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mosaic variegated aneuploidy syndrome 3	Pathogenic	rs376882637, rs1131692330	RCV000496081 RCV000496083	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oocyte maturation defect 9	Pathogenic	rs759712974, rs1754056948, rs1203102465	RCV001255424 RCV001255426 RCV001255427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
ANEUPLOIDY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIP13-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31093306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29567476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	31915374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30859296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30859296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Athetoid cerebral palsy	Athetoid cerebral palsy	BEFREE	29410950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	20956791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30927274, 31337978, 31396344, 31486418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26527623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40441196	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30720159, 31337978, 33136091, 35114976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31740732	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35907846, 36031387, 36785674, 40441196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30927274, 31337978, 31396344, 31486418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27827544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30720159	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29968393, 31739630, 32633782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40441196	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	40441196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30720159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	23562994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	29636883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28424416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29540729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27609023, 33237662, 35114976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37750623	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	20956791, 22452838, 23562994, 27392077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30720159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35601150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia	BEFREE	20803644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31740732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31740732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25078033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	34111559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28157697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32473092, 38216586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	32473092, 37340965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28256593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30564064, 31533816, 31666112, 31848930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28056099, 33136091, 34184074, 40441196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	31064720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31337978	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25078033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26527623, 28968952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27827544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30267820, 30685303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31648166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30927274, 31337978, 31396344, 31486418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27827544, 28564602, 30927274, 31321001, 31396344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27171439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	40441196	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	20803644, 23562994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic Variegated Aneuploidy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	ORPHANET_DG	28553959		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	CTD_human_DG	28553959		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3	Mosaic Variegated Aneuploidy	GENOMICS_ENGLAND_DG	28553959		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3	Mosaic Variegated Aneuploidy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28157697, 31732653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35197447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37904396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25078033, 28157697, 28968952, 29540729, 29567476, 30267820, 30542731, 30564064, 31064720, 31321001, 31337978, 31848930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28553959, 31574018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	ORPHANET_DG	28553959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2	Pontoneocerebellar hypoplasia	BEFREE	20803644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	20956791, 22452838, 23562994, 27392077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30267820, 30685303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22075945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22234486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31064720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25078033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	37904396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37904396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32065787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31648166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31648166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31648166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	40441196	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31337978, 31486418, 40441196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28553959, 32473092	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TRIP13 (thyroid hormone receptor interactor 13)